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Recognized gene
AARS1, ABCA3, ABCA4, ABCB4, ABCD4 and 20 more
Normalized c.HGVS
c.104C>T, c.1061G>A, c.1061G>C, c.1061G>T, c.10882C>T and 45 more
Normalized p.HGVS
p.(=), p.(Ala35Val), p.(Ala824Asp), p.(Arg1097Cys), p.(Arg1132Cys) and 44 more
Matching records
911
PM3-positive records
25
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 |
|---|---|---|---|---|---|---|
| PKD1 |
NM_001009944.3:c.776G>A
|
Phase-confirmed PM3 evidence
High confidence
|
Confirmed in trans with c.4369_4370delTC; p.Ala1458fs
context: Confirmed in trans
|
35778421
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
NPJ genomic medicine, 2022
|
Main article | |
| DARS2 |
NM_018122.5:c.473A>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.829 G > A; p.E277K
context: Compound heterozygous candidate
|
41315317
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.
NPJ genomic medicine, 2025
|
Main article | |
| DARS2 |
NM_018122.5:c.829G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.473 A > T; p.E158V
context: Compound heterozygous candidate
|
41315317
A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.
NPJ genomic medicine, 2025
|
Main article | |
| PMS2 |
NM_000535.7:c.943C>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with c.1732 C > T; c.943 C > T; p.Arg315*; +1 more
context: Compound heterozygous candidate
|
41168197
Whole genome sequencing-based analysis of genetic predisposition to adult glioblastoma.
NPJ genomic medicine, 2025
|
Main article | |
| MERTK |
NM_006343.3:c.2220G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
40603303
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
NPJ genomic medicine, 2025
|
Main article | |
| BBS1 |
NM_024649.5:c.808G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Confirmed in trans with c.339T>C; c.50T>C; p.(Met17Thr); +1 more
context: Confirmed in trans
|
40603303
New genetic diagnoses for inherited retinal dystrophies by integrating splicing tools into NGS pipelines.
NPJ genomic medicine, 2025
|
Main article | |
| ATM |
NM_000051.4:c.8307G>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
39794353
Assessment of candidate high-grade serous ovarian carcinoma predisposition genes through integrated germline and tumour sequencing.
NPJ genomic medicine, 2025
|
Main article | |
| PKD1 |
NM_001009944.3:c.1360C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38374194
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ genomic medicine, 2024
|
Main article | |
| OTOA |
NM_144672.4:c.1727T>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
38374194
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
NPJ genomic medicine, 2024
|
Supplementary material | |
| RPE65 |
NM_000329.3:c.314C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37217489
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
NPJ genomic medicine, 2023
|
Supplementary material | |
| ARL6 |
NM_001278293.3:c.344A>G
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
37217489
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.
NPJ genomic medicine, 2023
|
Supplementary material | |
| COQ4 |
NM_016035.5:c.376G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.692 G > A; p.(Cys231Tyr)
context: Compound heterozygous candidate
|
36266294
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype.
NPJ genomic medicine, 2022
|
Main article | |
| PKD1 |
NM_001009944.3:c.10102G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.10710_10715delGGCTGT; p.Ala3571_Val3572del
context: Compound heterozygous candidate
|
35778421
PKD2 founder mutation is the most common mutation of polycystic kidney disease in Taiwan.
NPJ genomic medicine, 2022
|
Main article | |
| DCHS1 |
NM_003737.4:c.3722C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with chr11:6,654,195:G>A; p.R850C
context: Compound heterozygous candidate
|
35190550
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
NPJ genomic medicine, 2022
|
Main article | |
| ADAM9 |
NM_003816.3:c.2074A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
35190550
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
NPJ genomic medicine, 2022
|
Main article | |
| RTTN |
NM_173630.4:c.998C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with chr18:67,860,533:G>A; p.T129S
context: Compound heterozygous candidate
|
35190550
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
NPJ genomic medicine, 2022
|
Main article | |
| SYNE1 |
NM_182961.4:c.6031C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with 152,757,224:G>A; p.R1395W
context: Compound heterozygous candidate
|
35190550
Analysis of recent shared ancestry in a familial cohort identifies coding and noncoding autism spectrum disorder variants.
NPJ genomic medicine, 2022
|
Main article | |
| HGD |
NM_000187.4:c.587C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1031delG; c.1084 G > A; c.16-2063 A > C; +7 more
context: Compound heterozygous candidate
|
34686677
A novel deep intronic variant strongly associates with Alkaptonuria.
NPJ genomic medicine, 2021
|
Main article | |
| INPP5E |
NM_019892.6:c.1094C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.1800C>G; p.(Asp600Glu)
context: Compound heterozygous candidate
|
34188062
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD.
NPJ genomic medicine, 2021
|
Main article | |
| COQ4 |
NM_016035.5:c.473G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.245T>A
context: Compound heterozygous candidate
|
31396399
Primary coenzyme Q10 deficiency-7: expanded phenotypic spectrum and a founder mutation in southern Chinese.
NPJ genomic medicine, 2019
|
Main article | |