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Recognized gene
AARS1, ABAT, ABCA3, ABCA4, ABCG5 and 19 more
Normalized c.HGVS
c.1073C>T, c.1073G>T, c.1166C>T, c.1205T>C, c.1222G>A and 45 more
Normalized p.HGVS
p.(=), p.(Ala1039Val), p.(Ala1287Val), p.(Ala162Thr), p.(Ala266Ser) and 43 more
Matching records
1078
PM3-positive records
44
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 | |
| SGCA |
NM_000023.4:c.582A>C
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.115A>G; T39A
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 | |
| ACE |
NM_000789.4:c.2416G>A
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with M883T
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 | |
| POR |
NM_001395413.1:c.1702C>T
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with c.75610480G>A; D211N
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 | |
| EIF2B5 |
NM_003907.3:c.362G>A
|
Phase-unconfirmed biallelic evidence
High confidence
|
Possible compound heterozygous with R638H
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 | |
| COL6A3 |
NM_004369.4:c.3040A>C
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 2:238253403:G:A; R2420W
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 | |
| CPAP |
NM_018451.5:c.3653C>T
|
Phase-unconfirmed biallelic evidence
Needs review
|
Possible compound heterozygous with 13:25457367:C:T; R1322Q
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 | |