pair_id pmid title journal year gene query_variant normalized_hgvsc normalized_hgvsp evidence_status evidence_confidence evidence_confidence_reason evidence_confidence_source pm3_genotype_summary evidence_source_display used_supplement main_source_resolved_format release_version 1b629bae5d4fd09c30fdd7d0 22629021 Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome. Journal of cardiovascular disease research 2012 KCNQ1 NM_000218.3:c.574C>T c.574C>T p.(Arg192Cys) PM3_EVIDENCE high exact_target_present query_evidence_snv_audit_20260710 Confirmed in trans with c.1032G>A; Ala344Alasp; p.Ala344Alasp main no nxml webdb_threshold_completion_missing10_20260508 c5a2efe0077e10885e7d3107 22443853 Patients with CDH23 mutations and the 1555A>G mitochondrial mutation are good candidates for electric acoustic stimulation (EAS). Acta oto-laryngologica 2012 CDH23 NM_022124.6:c.902G>A c.902G>A p.(Arg301Gln) PM3_EVIDENCE medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Confirmed in trans with p.P240L main no nxml webdb_threshold_completion_missing10_20260508 dd448ab877f6fee186a95623 22146522 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. British journal of cancer 2012 ATM NM_000051.4:c.8672G>A c.8672G>A p.(Gly2891Asp) PM3_EVIDENCE high exact_target_present query_evidence_snv_audit_20260710 Confirmed in trans with c.1A>G main no nxml webdb_threshold_completion_missing10_20260508 0550dc6eb207ad22b7ce45f4 24409374 Functional Analysis of Retinal Flecks in Stargardt Disease. Journal of clinical & experimental ophthalmology 2012 ABCA4 NM_000350.3:c.3610G>A c.3610G>A p.(Asp1204Asn) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Potential PM3 evidence identified; genotype context not structured main no nxml webdb_threshold_completion_missing10_20260508 774f353a0c68131af4a4c253 23285130 Genotyping of fanconi anemia patients by whole exome sequencing: advantages and challenges. PloS one 2012 BRIP1 NM_032043.3:c.2301G>C c.2301G>C p.(Glu767Asp) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 3e2b0a16fa662deaf6aacfa0 23098067 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC cardiovascular disorders 2012 KCNQ1 NM_000218.3:c.217C>A c.217C>A p.(Pro73Thr) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Potential PM3 evidence identified; genotype context not structured main no nxml webdb_threshold_completion_missing10_20260508 427634c1a2678e6f43131c71 23000897 Comprehensive molecular portraits of human breast tumours. Nature 2012 JAK3 NM_000215.4:c.2222G>A c.2222G>A p.(Arg741Gln) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with F110fs supplement yes nxml webdb_threshold_completion_missing10_20260508 646d4512e4b9a01ecc1f2df3 22998683 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet journal of rare diseases 2012 SMARCAL1 NM_014140.4:c.1427G>A c.1427G>A p.(Arg476Gln) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 6978f3b8e71fac0fa03aac57 22998683 Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet journal of rare diseases 2012 SMARCAL1 NM_014140.4:c.2321C>T c.2321C>T p.(Ser774Leu) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with c.[1191delG]; c.[1736C>T]; c.[1920_1921insG]; +2 more main no nxml webdb_threshold_completion_missing10_20260508 8f9655df3c1bcfb15e775841 22972948 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of medical genetics 2012 SDHA NM_004168.4:c.1522A>T c.1522A>T p.(Thr508Ser) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Confirmed in trans with c.1526C>T; p.Ser509Leu main no nxml webdb_threshold_completion_missing10_20260508 b56fc7bb80d9d324dcf8a0ae 22972948 Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency. Journal of medical genetics 2012 SDHA NM_004168.4:c.1526C>T c.1526C>T p.(Ser509Leu) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Confirmed in trans with c.1523C>T; p.Thr508Ile main no nxml webdb_threshold_completion_missing10_20260508 b75795dd231f4b8f704a471a 22952635 Creation of an open-access, mutation-defined fibroblast resource for neurological disease research. PloS one 2012 PINK1 NM_032409.3:c.1573G>A c.1573G>A p.(Asp525Asn) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with W577R main no nxml webdb_threshold_completion_missing10_20260508 50a675ff7b64998156e60682 22952606 CSF N-glycan profiles to investigate biomarkers in brain developmental disorders: application to leukodystrophies related to eIF2B mutations. PloS one 2012 EIF2B5 NM_003907.3:c.1153A>G c.1153A>G p.(Ile385Val) PM3_SUPPORTING high llm_exact_query_supported query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with p.Tyr343Cys main no nxml webdb_threshold_completion_missing10_20260508 be8fabc9a7136a949f721f22 22899989 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PloS one 2012 CDH23 NM_022124.6:c.4103C>T c.4103C>T p.(Thr1368Met) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with p.P240L main no nxml webdb_threshold_completion_missing10_20260508 02c65e894f28dd2bcab2b4fd 22899989 Prevalence and clinical features of hearing loss patients with CDH23 mutations: a large cohort study. PloS one 2012 CDH23 NM_022124.6:c.902G>A c.902G>A p.(Arg301Gln) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.719C>T; p.P240L main no nxml webdb_threshold_completion_missing10_20260508 5cfe81add77b21c721e7c5b7 22863007 Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. Cell 2012 ZNF423 NM_001379286.1:c.2762C>T c.2762C>T p.(Pro921Leu) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no bioc webdb_threshold_completion_missing10_20260508 7c4735b3bddf595f3005468b 22773737 Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes. Journal of medical genetics 2012 NPHP4 NM_015102.5:c.2021G>A c.2021G>A p.(Arg674His) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with 565C→T; R189* main no nxml webdb_threshold_completion_missing10_20260508 b2636f6c699884106765f7f6 22764206 Pharmacological rescue of mitochondrial deficits in iPSC-derived neural cells from patients with familial Parkinson's disease. Science translational medicine 2012 PINK1 NM_032409.3:c.1573G>A c.1573G>A p.(Asp525Asn) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with W577R main no bioc webdb_threshold_completion_missing10_20260508 f55276cbd8d5a488c6adad35 22742934 Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients. Neuromuscular disorders : NMD 2012 ANO5 NM_213599.3:c.1609T>C c.1609T>C p.(Ser537Pro) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.220C>T; p.Arg74X main no nxml webdb_threshold_completion_missing10_20260508 f6d4b87190e6b3f60acdb913 22737209 Developmental splicing deregulation in leukodystrophies related to EIF2B mutations. PloS one 2012 EIF2B5 NM_003907.3:c.1153A>G c.1153A>G p.(Ile385Val) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.1028A>G main no nxml webdb_threshold_completion_missing10_20260508 deef5c1725fcc61c4ff991c9 22713736 Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon. Hereditary cancer in clinical practice 2012 BRCA1 NM_007294.4:c.1648A>G c.1648A>G p.(Asn550Asp) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with F486L; Y179C main no nxml webdb_threshold_completion_missing10_20260508 89bd0cfd3091b58ef5079bbc 22676771 Miglustat therapy in the French cohort of paediatric patients with Niemann-Pick disease type C. Orphanet journal of rare diseases 2012 NPC1 NM_000271.5:c.2509A>G c.2509A>G p.(Ile837Val) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with A470P main no nxml webdb_threshold_completion_missing10_20260508 732c64e195ce97d678490d1f 22653152 Identification of two novel mutations in SLC29A3 encoding an equilibrative nucleoside transporter (hENT3) in two distinct Syrian families with H syndrome: expression studies of SLC29A3 (hENT3) in human skin. Dermatology (Basel, Switzerland) 2012 SLC29A3 NM_018344.6:c.1157G>A c.1157G>A p.(Arg386Gln) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.890dupC main no nxml webdb_threshold_completion_missing10_20260508 2fed940ada65f708225f7a5d 22644603 Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. Journal of inherited metabolic disease 2012 NDUFV1 NM_007103.4:c.166T>A c.166T>A p.(Ser56Thr) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with p.Thr423Met main no nxml webdb_threshold_completion_missing10_20260508 bed5a4e7545539d4feea111f 22642865 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet journal of rare diseases 2012 MCCC1 NM_020166.5:c.559T>C c.559T>C p.(Ser187Pro) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.1155A>C; p.R385S main no nxml webdb_threshold_completion_missing10_20260508 6c73bf23d6925eb53c5ac959 22642865 3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals. Orphanet journal of rare diseases 2012 MCCC2 NM_022132.5:c.116C>T c.116C>T p.(Ser39Phe) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 6c7ed07a05705e5cdb5a10ef 22634753 Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nature genetics 2012 NNT NM_182977.3:c.188A>T c.188A>T p.(Lys63Ile) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with c.1669C>T; c.1864-1G>T; p.Gln557X; +1 more main no bioc webdb_threshold_completion_missing10_20260508 7ebf9303c6c717d11235dd97 22613756 Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss. International journal of pediatric otorhinolaryngology 2012 GJB2 NM_004004.6:c.100A>T c.100A>T p.(Met34Leu) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 d41a834c8caf8bc51ee54df4 22605929 Clinical and molecular findings in three Lebanese families with Bietti crystalline dystrophy: report on a novel mutation. Molecular vision 2012 CYP4V2 NM_207352.4:c.1372G>A c.1372G>A p.(Val458Met) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 152ab235812952cbbb76ac72 22583432 Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease. CNS & neurological disorders drug targets 2012 TH NM_000360.4:c.733A>C c.733A>C p.(Thr245Pro) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with T283M main no bioc webdb_threshold_completion_missing10_20260508 c68e28dd9bb9272f8b37e01f 22550138 NPHP4 variants are associated with pleiotropic heart malformations. Circulation research 2012 NPHP4 NM_015102.5:c.3131G>A c.3131G>A p.(Arg1044His) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.3706G>A; p.Val1236Met main no bioc webdb_threshold_completion_missing10_20260508 6700eeca09aeee18799f0b4a 22550138 NPHP4 variants are associated with pleiotropic heart malformations. Circulation research 2012 NPHP4 NM_015102.5:c.3706G>A c.3706G>A p.(Val1236Met) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.3131G>A; p.Arg1044His main no bioc webdb_threshold_completion_missing10_20260508 50d254f83ac46c1f3a30d985 22487062 Mutations in LRP5 cause primary osteoporosis without features of OI by reducing Wnt signaling activity. BMC medical genetics 2012 LRP5 NM_002335.4:c.2773C>T c.2773C>T p.(Arg925Cys) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 4b484f9a13495d8647c25abf 22476911 Additional diverse findings expand the clinical presentation of DOCK8 deficiency. Journal of clinical immunology 2012 DOCK8 NM_203447.4:c.2593G>A c.2593G>A p.(Val865Met) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.2389A>G; c.4698C>G; p.Thr1566X main no bioc webdb_threshold_completion_missing10_20260508 dda23d80a77ba6f6f64e93bb 22443334 Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. BMC musculoskeletal disorders 2012 CA2 NM_000067.3:c.575C>T c.575C>T p.(Thr192Ile) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with p.Y537X main no nxml webdb_threshold_completion_missing10_20260508 727bc6b83cea42253e963bc3 22443334 Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies. BMC musculoskeletal disorders 2012 CAPN3 NM_000070.3:c.1336G>A c.1336G>A p.(Gly446Ser) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 0f580ae3195df3358b0e91d9 22415584 Boy with autosomal recessive polycystic kidney and autosomal dominant polycystic liver disease. Pediatric nephrology (Berlin, Germany) 2012 PKHD1 NM_138694.4:c.5585C>T c.5585C>T p.(Ser1862Leu) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Confirmed in trans with c.1486C>T; p.Arg496X main no nxml webdb_threshold_completion_missing10_20260508 e4d9c1d2b77706b51f0c4669 22410365 IL-7 in human health and disease. Seminars in immunology 2012 IL7R NM_002185.5:c.553A>T c.553A>T p.(Ser185Cys) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no bioc webdb_threshold_completion_missing10_20260508 b48b3d58d56564ec0f0e377f 22384008 Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study. PloS one 2012 GJB2 NM_004004.6:c.23C>T c.23C>T p.(Thr8Met) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with V37I main no nxml webdb_threshold_completion_missing10_20260508 45fec24be8065ff15319ea1e 22363543 Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population. PloS one 2012 EYS NM_001142800.2:c.7793G>A c.7793G>A p.(Gly2598Asp) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with c.4957_4958insA; p.S1653KfsX2 main no nxml webdb_threshold_completion_missing10_20260508 0a89b220db04a698e7eca73c 22334370 Next-generation genetic testing for retinitis pigmentosa. Human mutation 2012 EYS NM_001142800.2:c.4891C>T c.4891C>T p.(Pro1631Ser) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.7796A>G; p.(H2599R) supplement yes nxml webdb_threshold_completion_missing10_20260508 9f0b413a8dcd509799327d6a 22334370 Next-generation genetic testing for retinitis pigmentosa. Human mutation 2012 NPHP4 NM_015102.5:c.3385G>A c.3385G>A p.(Val1129Met) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.2902G>A; p.(A968T) supplement yes nxml webdb_threshold_completion_missing10_20260508 39c90896217d149104ee3ad2 22334370 Next-generation genetic testing for retinitis pigmentosa. Human mutation 2012 NPHP3 NM_153240.5:c.944A>T c.944A>T p.(Asp315Val) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.154G>A; p.(A52T) supplement yes nxml webdb_threshold_completion_missing10_20260508 27faf20845a4056d8d211adf 22334370 Next-generation genetic testing for retinitis pigmentosa. Human mutation 2012 USH2A NM_206933.4:c.7379G>A c.7379G>A p.(Arg2460His) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with c.10073G>A; c.4957C>T; C3358Y; +1 more main no nxml webdb_threshold_completion_missing10_20260508 ff899b8a8425aa8cc4e92458 22276143 Activation mobilizes the cholesterol in the late endosomes-lysosomes of Niemann Pick type C cells. PloS one 2012 NPC2 NM_006432.5:c.58G>A c.58G>A p.(Glu20Lys) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no bioc webdb_threshold_completion_missing10_20260508 56b0d1e4bfb1f7417d2fc3a0 22275357 Mislocalization of fukutin protein by disease-causing missense mutations can be rescued with treatments directed at folding amelioration. The Journal of biological chemistry 2012 FKTN NM_001079802.2:c.509C>T c.509C>T p.(Ala170Val) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with Y371C; retrotransposal insertion main no html webdb_threshold_completion_missing10_20260508 157ff15d417975b93c60ecc1 22252923 Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. American journal of medical genetics. Part C, Seminars in medical genetics 2012 GAA NM_000152.5:c.1719C>A c.1719C>A p.(Asn573Lys) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no bioc webdb_threshold_completion_missing10_20260508 1f707ae4bea31504ca1d9364 22252923 Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience. American journal of medical genetics. Part C, Seminars in medical genetics 2012 GAA NM_000152.5:c.2783A>G c.2783A>G p.(Tyr928Cys) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Potential PM3 evidence identified; genotype context not structured main no bioc webdb_threshold_completion_missing10_20260508 ed9420df16e53b497dc6dae3 22252118 Base excision repair and cancer. Cancer letters 2012 MUTYH NM_001048174.2:c.1103G>T c.1103G>T p.(Gly368Val) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with Tyr165Cys main no bioc webdb_threshold_completion_missing10_20260508 e16cf4e8db843d63b72d69cd 22237106 The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012 IL7R NM_002185.5:c.232G>A c.232G>A p.(Val78Met) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with transmembrane domain mutation main no bioc webdb_threshold_completion_missing10_20260508 ffd5bb03722cc456860bdba1 22184204 Mutations of DNAH11 in patients with primary ciliary dyskinesia with normal ciliary ultrastructure. Thorax 2012 DNAH11 NM_001277115.2:c.11663G>A c.11663G>A p.(Arg3888His) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Homozygous for query variant main no bioc webdb_threshold_completion_missing10_20260508 d75ba0dac838ccd9842ce183 22146522 Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia. British journal of cancer 2012 ATM NM_000051.4:c.7271T>C c.7271T>C p.(Val2424Ala) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Homozygous for query variant main no nxml webdb_threshold_completion_missing10_20260508 139ab74f781d60671251fd20 22135276 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of medical genetics 2012 MYO7A NM_000260.4:c.2476G>A c.2476G>A p.(Ala826Thr) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with p.Trp1431X main no nxml webdb_threshold_completion_missing10_20260508 945e17d06617429dddacb74f 22135276 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of medical genetics 2012 CDH23 NM_022124.6:c.3337G>C c.3337G>C p.(=) PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Confirmed in trans with c.8722G>A; p.Gly2908Arg main no nxml webdb_threshold_completion_missing10_20260508 ec2cda24375890215f7dc95e 22135276 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of medical genetics 2012 USH2A NM_206933.4:c.6854A>G c.6854A>G p.(Asn2285Ser) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with p.Arg1777Trp main no nxml webdb_threshold_completion_missing10_20260508 8a3d1f72c19a0c50f22d5820 21997714 Congenital myasthenic syndromes in 2012. Current neurology and neuroscience reports 2012 SCN4A NM_000334.4:c.737C>T c.737C>T p.(Ser246Leu) PM3_SUPPORTING medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Possible compound heterozygous with p.V1442E main no bioc webdb_threshold_completion_missing10_20260508 db823687b12a4536c9811fb2 21837758 The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex. Molecular carcinogenesis 2012 MSH2 NM_000251.3:c.1A>C c.1A>C p.? PM3_SUPPORTING high exact_target_present query_evidence_snv_audit_20260710 Possible compound heterozygous with deletion of the first 6 exons of MSH2 main no bioc webdb_threshold_completion_missing10_20260508 8ddfddd5f7014864d6035676 23351400 Founder mutations and genotype-phenotype correlations in Meckel-Gruber syndrome and associated ciliopathies. Cilia 2012 RPGRIP1L NM_015272.5:c.466C>T c.466C>T p.(Arg156Cys) OTHER_PATIENT_EVIDENCE high exact_target_present query_evidence_snv_audit_20260710 Patient-level evidence found, not PM3 main no nxml webdb_threshold_completion_missing10_20260508 29ac6a9ee23295241836ddad 23160421 How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Current opinion in neurology 2012 GRN NM_002087.4:c.881A>G c.881A>G p.(Tyr294Cys) OTHER_PATIENT_EVIDENCE medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Patient-level evidence found, not PM3 main no bioc webdb_threshold_completion_missing10_20260508 b60e08d50c533eb0be0e2085 23107375 The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives. Orphanet journal of rare diseases 2012 SLC52A3 NM_033409.4:c.1238T>C c.1238T>C p.(Val413Ala) OTHER_PATIENT_EVIDENCE high exact_target_present query_evidence_snv_audit_20260710 Patient-level evidence found, not PM3 main no nxml webdb_threshold_completion_missing10_20260508 c48c16d61e02197bb473549a 22704718 Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease. Orphanet journal of rare diseases 2012 GALC NM_000153.4:c.909-10A>G c.909-10A>G OTHER_PATIENT_EVIDENCE high exact_target_present query_evidence_snv_audit_20260710 Patient-level evidence found, not PM3 main no nxml webdb_threshold_completion_missing10_20260508 5001257958dd287761a3d9f2 22410797 Atypical hemolytic uremic syndrome in children: complement mutations and clinical characteristics. Pediatric nephrology (Berlin, Germany) 2012 CFH NM_000186.4:c.1198C>A c.1198C>A p.(Gln400Lys) OTHER_PATIENT_EVIDENCE high exact_target_present query_evidence_snv_audit_20260710 Patient-level evidence found, not PM3 main no nxml webdb_threshold_completion_missing10_20260508 55fa0387221b0483dc300c8c 22337229 An intronic ABCA3 mutation that is responsible for respiratory disease. Pediatric research 2012 ABCA3 NM_001089.3:c.4253A>G c.4253A>G p.(Asn1418Ser) OTHER_PATIENT_EVIDENCE medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Patient-level evidence found, not PM3 main no nxml webdb_threshold_completion_missing10_20260508 208c4c62309b0ae942b1c669 22135276 Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. Journal of medical genetics 2012 CDH23 NM_022124.6:c.3178C>T c.3178C>T p.(Arg1060Trp) OTHER_PATIENT_EVIDENCE medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Patient-level evidence found, not PM3 main no nxml webdb_threshold_completion_missing10_20260508 0e3d821be4ba2bbcd8f1da7c 22106379 The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis. Human molecular genetics 2012 NEK8 NM_178170.3:c.988C>T c.988C>T p.(Leu330Phe) OTHER_PATIENT_EVIDENCE medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Patient-level evidence found, not PM3 both yes nxml webdb_threshold_completion_missing10_20260508 2adb9b9a7bba4c10f1bc6b23 22104196 Current status of the congenital myasthenic syndromes. Neuromuscular disorders : NMD 2012 SCN4A NM_000334.4:c.737C>T c.737C>T p.(Ser246Leu) OTHER_PATIENT_EVIDENCE medium llm_review_not_conclusive_for_removal query_evidence_llm_review_recall_first_20260713 Patient-level evidence found, not PM3 main no bioc webdb_threshold_completion_missing10_20260508 2e1b9449ccb55597f5ea1f86 26316937 Molecular Markers with Predictive and Prognostic Relevance in Lung Cancer. Lung cancer international 2012 DDR2 NM_006182.4:c.716T>C c.716T>C p.(Leu239Pro) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 36749b6532ff34985b0e0560 23961350 BRCA1 And BRCA2 analysis of Argentinean breast/ovarian cancer patients selected for age and family history highlights a role for novel mutations of putative south-American origin. SpringerPlus 2012 BRCA1 NM_007294.4:c.1648A>G c.1648A>G p.(Asn550Asp) NO_MATCH low deterministic_and_llm_different_variant query_evidence_llm_review_recall_first_20260713 No PM3 candidate genotype identified both yes nxml webdb_threshold_completion_missing10_20260508 ef42a29129554cc56f531e4a 23843830 Bone density in patients with late onset Pompe disease. International journal of endocrinology and metabolism 2012 GAA NM_000152.5:c.-32-13T>G c.-32-13T>G NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 5dec285f5e1f3fda22ca974b 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.227C>T c.227C>T p.(Ser76Leu) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 7e2f8c3935766516dcd5abca 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.2359G>A c.2359G>A p.(Gly787Ser) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 5487a9664b38e5c4a03a73fa 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.2456A>G c.2456A>G p.(Lys819Arg) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 48072cd508f091b9a069b213 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.2938A>G c.2938A>G p.(Thr980Ala) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 a2d5ff708a27fd656250a205 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.3067G>A c.3067G>A p.(Val1023Met) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 502a7cce8489fdb2bde10f99 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.3067G>T c.3067G>T p.(Val1023Leu) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 ed59986189cf80a5f5b1c215 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.3754A>G c.3754A>G p.(Ile1252Val) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 202c03c85c3f97f2cc32f300 23772360 In silico prediction of a disease-associated STIL mutant and its affect on the recruitment of centromere protein J (CENPJ). FEBS open bio 2012 STIL NM_001048166.1:c.467A>G c.467A>G p.(His156Arg) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 ca0c2f91e7f8b3d706c98f66 23716935 Molecular analysis of exons 6 and 7 of phenylalanine hydroxylase gene mutations in Phenylketonuria patients in Western Iran. Indian journal of human genetics 2012 PAH NM_000277.3:c.781C>G c.781C>G p.(Arg261Gly) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 b1b032af528c757e58822b17 23585771 The genetics of Fuchs' corneal dystrophy. Expert review of ophthalmology 2012 LOXHD1 NM_001384474.1:c.1639C>T c.1639C>T p.(Arg547Cys) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 04aaa736e71b443e2efcaa6a 23505398 Multi-Scale Continuum Modeling of Biological Processes: From Molecular Electro-Diffusion to Sub-Cellular Signaling Transduction. Computational science & discovery 2012 TNNI3 NM_000363.5:c.143A>C c.143A>C p.(Gln48Pro) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 f9cdc5d5a2d8b00b5cfed56f 23431742 Autosomal dominant polycystic kidney disease in University Clinic of Nephrology and Haemodialysis of Cotonou: clinical and genetical findings. Genetic counseling (Geneva, Switzerland) 2012 PKD1 NM_001009944.3:c.2896C>T c.2896C>T p.(Arg966Trp) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 968a431f0f0e3dff7970852d 23397629 Gap junctions and blood-tissue barriers. Advances in experimental medicine and biology 2012 GJB2 NM_004004.6:c.400T>C c.400T>C p.(Trp134Arg) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 3cfd90ecbf75a978a3f0612c 23391804 Novel mutations in the neuraminidase-1 (NEU1) gene in two patients of sialidosis in India. The Indian journal of medical research 2012 GLB1 NM_000404.4:c.218A>G c.218A>G p.(Lys73Arg) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 033867a5b1015b34b35d15eb 23323072 Universal iron fortification of foods: the view of a hematologist. Revista brasileira de hematologia e hemoterapia 2012 HFE NM_000410.4:c.766G>A c.766G>A p.(Val256Ile) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 6c24c5d13be7af71f7a7c013 23304551 Cardiac ion channelopathies and the sudden infant death syndrome. ISRN cardiology 2012 KCNQ1 NM_000218.3:c.1378G>A c.1378G>A p.(Gly460Ser) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 f9589c68dc6ee5bcbead7239 23304551 Cardiac ion channelopathies and the sudden infant death syndrome. ISRN cardiology 2012 KCNQ1 NM_000218.3:c.1876G>A c.1876G>A p.(Gly626Ser) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 0b171e75b662798663960a97 23304067 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. Molecular vision 2012 WHRN NM_015404.4:c.1222C>A c.1222C>A p.(Pro408Thr) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 780219e49de3f7002fef4b51 23304067 Two novel disease-causing mutations in the CLRN1 gene in patients with Usher syndrome type 3. Molecular vision 2012 CLRN1 NM_174878.3:c.359T>C c.359T>C p.(Met120Thr) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 de2611e65aca5111f537fc25 23300914 Structure of the TPR domain of AIP: lack of client protein interaction with the C-terminal α-7 helix of the TPR domain of AIP is sufficient for pituitary adenoma predisposition. PloS one 2012 DNAH8 NM_001206927.2:c.718C>T c.718C>T p.(Arg240Cys) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 4830c1fa6e62c22dcdbc972d 23300780 High-throughput mutation profiling of primary and metastatic endometrial cancers identifies KRAS, FGFR2 and PIK3CA to be frequently mutated. PloS one 2012 NTRK1 NM_002529.4:c.1125G>A c.1125G>A p.(Met375Ile) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified both yes nxml webdb_threshold_completion_missing10_20260508 11be1a04410fece97528f08b 23300780 High-throughput mutation profiling of primary and metastatic endometrial cancers identifies KRAS, FGFR2 and PIK3CA to be frequently mutated. PloS one 2012 NTRK1 NM_002529.4:c.320C>T c.320C>T p.(Ala107Val) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified both yes nxml webdb_threshold_completion_missing10_20260508 1786081fe202729edde3bac2 23300679 On the interplay of telomeres, nevi and the risk of melanoma. PloS one 2012 ATM NM_000051.4:c.3161C>A c.3161C>A p.(Pro1054His) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 79ebd873bced774b68d8d2ca 23284679 HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer. PloS one 2012 MSH6 NM_000179.3:c.3700G>A c.3700G>A p.(Glu1234Lys) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified both yes bioc webdb_threshold_completion_missing10_20260508 de1e064566a9bd74a1f543e6 23284679 HSD3B and gene-gene interactions in a pathway-based analysis of genetic susceptibility to bladder cancer. PloS one 2012 MSH6 NM_000179.3:c.3700G>C c.3700G>C p.(Glu1234Gln) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified both yes bioc webdb_threshold_completion_missing10_20260508 12127b94aef8291b972afd17 23279425 X-linked Charcot-Marie-Tooth disease. Journal of the peripheral nervous system : JPNS 2012 GJC2 NM_020435.4:c.530C>T c.530C>T p.(Ala177Val) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 07e58a3cbb6fb2cdbcb23c78 23272087 Inactivation of ATM/ATR DNA damage checkpoint promotes androgen induced chromosomal instability in prostate epithelial cells. PloS one 2012 ATM NM_000051.4:c.3161C>A c.3161C>A p.(Pro1054His) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 fe84ab1a61f722b64f6004bd 23268599 Adaptive evolution by recombination is not associated with increased mutation rates in Maize streak virus. BMC evolutionary biology 2012 CP NM_000096.4:c.164A>G c.164A>G p.(Tyr55Cys) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified both yes nxml webdb_threshold_completion_missing10_20260508 73b0bcff9f49dc2042835811 23260667 MORC2 signaling integrates phosphorylation-dependent, ATPase-coupled chromatin remodeling during the DNA damage response. Cell reports 2012 ATM NM_000051.4:c.1319C>T c.1319C>T p.(Ser440Phe) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no bioc webdb_threshold_completion_missing10_20260508 9d354209724fdaf917486bbf 23251483 Inner ear morphology is perturbed in two novel mouse models of recessive deafness. PloS one 2012 CDH23 NM_022124.6:c.7442C>T c.7442C>T p.(Pro2481Leu) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508 35b256701021e81883bcb9a4 23251443 Mutation in Parkinson disease-associated, G-protein-coupled receptor 37 (GPR37/PaelR) is related to autism spectrum disorder. PloS one 2012 CNTNAP2 NM_014141.6:c.2417C>T c.2417C>T p.(Pro806Leu) NO_MATCH not_assessed not_assessed No PM3 candidate genotype identified main no nxml webdb_threshold_completion_missing10_20260508