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Input query
Recognized gene
ABCG5, ACSF3, ADGRV1, ATM, ATP7B and 30 more
Normalized c.HGVS
c.-3G>A, c.1001T>C, c.1073C>T, c.1171G>C, c.1171G>T and 44 more
Normalized p.HGVS
p.(=), p.(Ala1039Val), p.(Ala1078Thr), p.(Ala800Thr), p.(Ala8Pro) and 41 more
Matching records
1076
PM3-positive records
31
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 |
|---|---|---|---|---|---|---|
| SGCA |
NM_000023.4:c.115A>G
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 17:48245931:A:C; E194D
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| LYST |
NM_000081.4:c.2438G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 1:235894468:C:G; W2937C
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| ABCA4 |
NM_000350.3:c.3164G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 1:94473286:A:C; L1970R
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| ABCA4 |
NM_000350.3:c.6218G>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 1:94564480:A:T; F213Y
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| HEXA |
NM_000520.6:c.740G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.508C>T; R170W
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| RYR1 |
NM_000540.3:c.2500C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 19:38989817:A:G; I2321V
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| ALDH5A1 |
NM_001080.3:c.1531G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 6:24503657:C:T; T202I
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| TTN |
NM_001267550.2:c.82408C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 2:179659709:G:GGCAGCACCC; A395delinsAGAA; nonframeshift_insertion
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| COL6A2 |
NM_001849.4:c.638G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 21:47537813:C:T; A360V
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| PYGL |
NM_002863.5:c.1196G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 14:51382586:C:T; E274K
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| FAT1 |
NM_005245.4:c.7957G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| BRCA1 |
NM_007294.4:c.442-1G>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Homozygous for query variant
context: Homozygous evidence
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| IFT140 |
NM_014714.4:c.2303G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 16:1630771:G:A; R505X; p.Arg505*
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| MYH2 |
NM_017534.6:c.5122G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| BBS1 |
NM_024649.5:c.1385G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 11:66294120:G:A; G394D; Gly394Asp
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| MYO18B |
NM_032608.7:c.4207C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 22:26317261:G:A; R1801Q
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| VPS13B |
NM_152564.5:c.2282C>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 8:100147957:A:G; H520R
context: Compound heterozygous candidate
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| CRB2 |
NM_173689.7:c.347C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Homozygous for query variant
context: Homozygous evidence
|
28991257
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Nature genetics, 2017
|
Supplementary material | |
| SLC25A46 |
NM_138773.4:c.746G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.165_166insC; p.His56fs*94
context: Compound heterozygous candidate
|
26168012
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Nature genetics, 2015
|
Main article | |
| NEU1 |
NM_000434.4:c.914G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.625delG; p.Glu209SerfsTer94
context: Compound heterozygous candidate
|
25401298
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Nature genetics, 2015
|
Main article | |