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Recognized gene
A4GALT, AARS1, AARS2, AASS, ABAT and 15 more
Normalized c.HGVS
c.109G>A, c.1150C>T, c.1184A>C, c.1186A>G, c.1211C>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala1324Thr), p.(Ala631Thr), p.(Arg136Trp), p.(Arg19Ser) and 41 more
Matching records
2709
PM3-positive records
16
Results are ordered by PM3-relevant evidence first. Reviewed source only indicates whether main text, supplementary material, or both were reviewed; it is not the evidence conclusion.
| Gene | Variant | Evidence | PM3 context | Publication | Reviewed source | Actions |
|---|---|---|---|---|---|---|
| TTN |
NM_001267550.2:c.51377A>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.31426 + 1G > C; splice donor
context: Confirmed in trans
|
39277846
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics, 2024
|
Main article | |
| TTN |
NM_001267550.2:c.95234T>G
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.29024C > A; p.Ser9675*
context: Confirmed in trans
|
39277846
Pathomechanisms of Monoallelic variants in TTN causing skeletal muscle disease.
Human molecular genetics, 2024
|
Main article | |
| DNAH11 |
NM_001277115.2:c.7772C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.8698C>T; p.Arg2900Ter
context: Compound heterozygous candidate
|
39536325
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysis.
Human molecular genetics, 2025
|
Main article | |
| DNAJB2 |
NM_006736.6:c.184C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37070754
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
Human molecular genetics, 2023
|
Main article | |
| DOK7 |
NM_173660.5:c.415G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Confirmed in trans with c.653-1G>C
context: Confirmed in trans
|
36579833
A mutation in DOK7 in congenital myasthenic syndrome forms aggresome in cultured cells, and reduces DOK7 expression and MuSK phosphorylation in patient-derived iPS cells.
Human molecular genetics, 2023
|
Main article | |
| CFH |
NM_000186.4:c.1198C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3148A>T; p.Asn1050Tyr
context: Compound heterozygous candidate
|
34508573
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics, 2022
|
Main article | |
| CFH |
NM_000186.4:c.3130A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.3148A>T; p.Asn1050Tyr
context: Compound heterozygous candidate
|
34508573
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics, 2022
|
Main article | |
| CFH |
NM_000186.4:c.481G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2850G>T; p.Gln950His
context: Confirmed in trans
|
34508573
Systemic complement levels in patients with age-related macular degeneration carrying rare or low-frequency variants in the CFH gene.
Human molecular genetics, 2022
|
Main article | |
| AARS1 |
NM_001605.3:c.2176A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2267C > T; p.Thr756Ile
context: Confirmed in trans
|
33909043
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Human molecular genetics, 2021
|
Main article | |
| AARS1 |
NM_001605.3:c.2267C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.2176A > G; p.Thr726Ala
context: Confirmed in trans
|
33909043
Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy.
Human molecular genetics, 2021
|
Main article | |
| TNFRSF13B |
NM_012452.3:c.706G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with A181V
context: Compound heterozygous candidate
|
33751038
Sequencing at lymphoid neoplasm susceptibility loci maps six myeloma risk genes.
Human molecular genetics, 2021
|
Supplementary material | |
| NDUFV1 |
NM_007103.4:c.262C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with R199P
context: Compound heterozygous candidate
|
26345448
Characterization of clinically identified mutations in NDUFV1, the flavin-binding subunit of respiratory complex I, using a yeast model system.
Human molecular genetics, 2015
|
Main article | |
| HGSNAT |
NM_152419.3:c.1209G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with p.A615T
context: Compound heterozygous candidate
|
25859010
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Human molecular genetics, 2015
|
Main article | |
| AHI1 |
NM_001134831.2:c.3263_3264del
|
Phase-unconfirmed biallelic evidence
Not assessed
|
Homozygous for query variant
context: Homozygous evidence
|
25616960
Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Human molecular genetics, 2015
|
Main article | |
| FRAS1 |
NM_025074.7:c.5205C>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1918C>T; p.640R>C
context: Compound heterozygous candidate
|
24476948
Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Human molecular genetics, 2014
|
Main article | |
| LRP4 |
NM_002334.4:c.3697G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.3830G > A; RH mutation; p.Arg1277His
context: Confirmed in trans
|
24234652
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
Human molecular genetics, 2014
|
Main article | |
| COL11A2 |
NM_080680.3:c.388C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
37462524
COL11A2 as a candidate gene for vertebral malformations and congenital scoliosis.
Human molecular genetics, 2023
|
Main article | |
| SDHA |
NM_004168.4:c.1157C>T
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
36905328
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Human molecular genetics, 2023
|
Main article and supplement | |
| RYR1 |
NM_000540.3:c.14693T>C
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
29701772
Inositol trisphosphate receptor-mediated Ca2+ signalling stimulates mitochondrial function and gene expression in core myopathy patients.
Human molecular genetics, 2018
|
Main article | |
| ANK3 |
NM_020987.5:c.3139G>A
|
Other Patient-Level Evidence
High confidence
|
Patient-level evidence found, not PM3
context: Other patient-level evidence
|
24463883
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Human molecular genetics, 2014
|
Supplementary material | |