"Ambry Genetics"[submitter] AND "GATAD1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392322	NM_021167.5(GATAD1):c.-3A>G	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2625757	NM_021167.5(GATAD1):c.9G>A (p.Leu3=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +1 more	GLikely benign
Select item 3098765	NM_021167.5(GATAD1):c.19C>T (p.Pro7Ser)	GATAD1, LOC129998793 (P7S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227579	NM_021167.5(GATAD1):c.24C>T (p.Thr8=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1728792	NM_021167.5(GATAD1):c.31G>A (p.Val11Ile)	GATAD1, LOC129998793 (V11I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 137447	NM_021167.5(GATAD1):c.48G>A (p.Ser16=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +2 more	GBenign/Likely benign
Select item 1752705	NM_021167.5(GATAD1):c.62A>G (p.Lys21Arg)	GATAD1, LOC129998793 (K21R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1760216	NM_021167.5(GATAD1):c.76G>C (p.Gly26Arg)	GATAD1, LOC129998793 (G26R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2448826	NM_021167.5(GATAD1):c.79G>A (p.Glu27Lys)	GATAD1, LOC129998793 (E27K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1763997	NM_021167.5(GATAD1):c.85C>A (p.Leu29Ile)	GATAD1, LOC129998793 (L29I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1535656	NM_021167.5(GATAD1):c.87C>T (p.Leu29=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +1 more	GLikely benign
Select item 2625759	NM_021167.5(GATAD1):c.94C>T (p.His32Tyr)	GATAD1, LOC129998793 (H32Y)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 228696	NM_021167.5(GATAD1):c.96T>G (p.His32Gln)	GATAD1, LOC129998793 (H32Q)	Single nucleotide variant (missense variant +1 more)	GATAD1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 2625760	NM_021167.5(GATAD1):c.104G>T (p.Gly35Val)	GATAD1, LOC129998793 (G35V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 834600	NM_021167.5(GATAD1):c.106C>T (p.Arg36Trp)	GATAD1, LOC129998793 (R36W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1786097	NM_021167.5(GATAD1):c.107G>C (p.Arg36Pro)	GATAD1, LOC129998793 (R36P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 951279	NM_021167.5(GATAD1):c.107G>A (p.Arg36Gln)	GATAD1, LOC129998793 (R36Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1788886	NM_021167.5(GATAD1):c.108G>A (p.Arg36=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 1412428	NM_021167.5(GATAD1):c.112_120del (p.Gly38_Gly40del)	GATAD1, LOC129998793	Deletion (inframe_deletion +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1728015	NM_021167.5(GATAD1):c.112G>T (p.Gly38Cys)	GATAD1, LOC129998793 (G38C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 834582	NM_021167.5(GATAD1):c.117_131del (p.38_42GAGSG[1])	GATAD1, LOC129998793	Deletion (inframe_deletion +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1760388	NM_021167.5(GATAD1):c.124G>A (p.Gly42Arg)	GATAD1, LOC129998793 (G42R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1762757	NM_021167.5(GATAD1):c.125G>A (p.Gly42Glu)	GATAD1, LOC129998793 (G42E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2448822	NM_021167.5(GATAD1):c.128G>A (p.Gly43Asp)	GATAD1, LOC129998793 (G43D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1769068	NM_021167.5(GATAD1):c.128G>T (p.Gly43Val)	GATAD1, LOC129998793 (G43V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1773328	NM_021167.5(GATAD1):c.146C>T (p.Ala49Val)	GATAD1, LOC129998793 (A49V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 933989	NM_021167.5(GATAD1):c.151G>T (p.Gly51Trp)	GATAD1, LOC129998793 (G51W)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 515249	NM_021167.5(GATAD1):c.156T>A (p.Thr52=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 1381957	NM_021167.5(GATAD1):c.157G>C (p.Gly53Arg)	GATAD1, LOC129998793 (G53R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 574542	NM_021167.5(GATAD1):c.157G>T (p.Gly53Trp)	GATAD1, LOC129998793 (G53W)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1776093	NM_021167.5(GATAD1):c.159G>A (p.Gly53=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227577	NM_021167.5(GATAD1):c.161G>A (p.Gly54Asp)	GATAD1, LOC129998793 (G54D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1776997	NM_021167.5(GATAD1):c.163A>G (p.Ser55Gly)	GATAD1, LOC129998793 (S55G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 228693	NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)	GATAD1, LOC129998793	Microsatellite (inframe_insertion +1 more)	GATAD1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1777441	NM_021167.5(GATAD1):c.165C>T (p.Ser55=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2563693	NM_021167.5(GATAD1):c.170G>A (p.Gly57Asp)	GATAD1, LOC129998793 (G57D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 2560529	NM_021167.5(GATAD1):c.174C>G (p.Gly58=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 163496	NM_021167.5(GATAD1):c.176G>C (p.Gly59Ala)	GATAD1, LOC129998793 (G59A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +3 more	GLikely benign
Select item 2448823	NM_021167.5(GATAD1):c.180C>T (p.Phe60=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2563694	NM_021167.5(GATAD1):c.182G>A (p.Gly61Asp)	GATAD1, LOC129998793 (G61D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1012067	NM_021167.5(GATAD1):c.184G>A (p.Ala62Thr)	GATAD1, LOC129998793 (A62T)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1782037	NM_021167.5(GATAD1):c.188C>G (p.Ala63Gly)	GATAD1, LOC129998793 (A63G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1783933	NM_021167.5(GATAD1):c.198C>T (p.Ala66=)	LOC129998793, GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1784122	NM_021167.5(GATAD1):c.199A>G (p.Ser67Gly)	GATAD1, LOC129998793 (S67G)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1785351	NM_021167.5(GATAD1):c.206C>T (p.Ser69Phe)	GATAD1, LOC129998793 (S69F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 746523	NM_021167.5(GATAD1):c.213C>T (p.Thr71=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +1 more	GLikely benign
Select item 1787079	NM_021167.5(GATAD1):c.216T>G (p.Pro72=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1005144	NM_021167.5(GATAD1):c.231GGGCGG[3] (p.Gly80_Gly81dup)	GATAD1, LOC129998793	Microsatellite (inframe_insertion +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1108961	NM_021167.5(GATAD1):c.234C>T (p.Gly78=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3227578	NM_021167.5(GATAD1):c.242G>A (p.Gly81Asp)	GATAD1, LOC129998793 (G81D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1792302	NM_021167.5(GATAD1):c.250-5A>G	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 45826	NM_021167.5(GATAD1):c.276T>G (p.Ser92=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 416774	NM_021167.5(GATAD1):c.285C>T (p.Leu95=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3227580	NM_021167.5(GATAD1):c.300C>G (p.Tyr100Ter)	GATAD1 (Y100*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 857748	NM_021167.5(GATAD1):c.308C>T (p.Ala103Val)	GATAD1 (A103V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2448323	NM_021167.5(GATAD1):c.354A>G (p.Arg118=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2497138	NM_021167.5(GATAD1):c.358A>G (p.Ile120Val)	GATAD1 (I120V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1733400	NM_021167.5(GATAD1):c.362T>C (p.Phe121Ser)	GATAD1 (F121S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 416773	NM_021167.5(GATAD1):c.367T>C (p.Leu123=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2563692	NM_021167.5(GATAD1):c.368T>G (p.Leu123Trp)	GATAD1 (L123W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227581	NM_021167.5(GATAD1):c.374A>T (p.Asn125Ile)	GATAD1 (N125I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 3227582	NM_021167.5(GATAD1):c.376-4A>G	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 957756	NM_021167.5(GATAD1):c.406A>G (p.Ile136Val)	GATAD1 (I136V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1737692	NM_021167.5(GATAD1):c.408A>T (p.Ile136=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +1 more	GLikely benign
Select item 1503551	NM_021167.5(GATAD1):c.411C>G (p.Ile137Met)	GATAD1 (I137M)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1739060	NM_021167.5(GATAD1):c.424A>G (p.Ile142Val)	GATAD1 (I142V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 264373	NM_021167.5(GATAD1):c.431A>G (p.Tyr144Cys)	GATAD1 (Y144C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1739931	NM_021167.5(GATAD1):c.435+5G>A	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1740145	NM_021167.5(GATAD1):c.437G>A (p.Gly146Glu)	GATAD1 (G146E)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 696578	NM_021167.5(GATAD1):c.477T>C (p.Asp159=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3227583	NM_021167.5(GATAD1):c.480A>G (p.Glu160=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 2448827	NM_021167.5(GATAD1):c.487G>A (p.Gly163Arg)	GATAD1 (G163R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1744750	NM_021167.5(GATAD1):c.500A>T (p.Tyr167Phe)	GATAD1 (Y167F)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 964944	NM_021167.5(GATAD1):c.507A>G (p.Gln169=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 581797	NM_021167.5(GATAD1):c.512G>A (p.Arg171Lys)	GATAD1 (R171K)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 643238	NM_021167.5(GATAD1):c.515G>C (p.Gly172Ala)	GATAD1 (G172A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 3227584	NM_021167.5(GATAD1):c.520A>G (p.Ile174Val)	GATAD1 (I174V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1345396	NM_021167.5(GATAD1):c.524A>G (p.Gln175Arg)	GATAD1 (Q175R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1746494	NM_021167.5(GATAD1):c.526G>A (p.Asp176Asn)	GATAD1 (D176N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 163497	NM_021167.5(GATAD1):c.537C>G (p.Cys179Trp)	GATAD1 (C179W)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 639273	NM_021167.5(GATAD1):c.539A>T (p.Glu180Val)	GATAD1 (E180V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1748026	NM_021167.5(GATAD1):c.550G>T (p.Ala184Ser)	GATAD1 (A184S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 45828	NM_021167.5(GATAD1):c.558G>A (p.Thr186=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1748843	NM_021167.5(GATAD1):c.564C>T (p.Leu188=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1749229	NM_021167.5(GATAD1):c.570T>C (p.Pro190=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 1373182	NM_021167.5(GATAD1):c.578C>G (p.Ser193Cys)	GATAD1 (S193C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1123972	NM_021167.5(GATAD1):c.591C>T (p.Asp197=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 163498	NM_021167.5(GATAD1):c.603C>T (p.Pro201=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +2 more	GLikely benign
Select item 163499	NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)	GATAD1 (A202T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +2 more	GUncertain significance
Select item 2448824	NM_021167.5(GATAD1):c.609C>T (p.Ser203=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 518928	NM_021167.5(GATAD1):c.611A>G (p.Tyr204Cys)	GATAD1 (Y204C)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2625758	NM_021167.5(GATAD1):c.620-4C>T	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 1752492	NM_021167.5(GATAD1):c.625G>C (p.Glu209Gln)	GATAD1 (E209Q)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1524956	NM_021167.5(GATAD1):c.646A>T (p.Met216Leu)	GATAD1 (M216L)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1753756	NM_021167.5(GATAD1):c.647T>C (p.Met216Thr)	GATAD1 (M216T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 518980	NM_021167.5(GATAD1):c.681T>A (p.Ser227=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1756463	NM_021167.5(GATAD1):c.698G>A (p.Arg233Gln)	GATAD1 (R233Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1756710	NM_021167.5(GATAD1):c.701C>A (p.Ser234Ter)	GATAD1 (S234*)	Single nucleotide variant (nonsense +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1756760	NM_021167.5(GATAD1):c.702A>G (p.Ser234=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3227585	NM_021167.5(GATAD1):c.716C>T (p.Thr239Ile)	GATAD1 (T239I)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance

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