GATAD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 527121	NC_000007.13:g.(?_91570394)_(92085896_?)dup	ANKIB1, CYP51A1 +19 more	Duplication	Long QT syndrome	GUncertain significance
Select item 1262925	NC_000007.14:g.92447335C>A	GATAD1	Single nucleotide variant	not provided	GBenign
Select item 1226007	NC_000007.14:g.92447466del	GATAD1, LOC129998793	Deletion (genic upstream transcript variant)	not provided	GBenign
Select item 1316690	NC_000007.14:g.92447466C>G	GATAD1, LOC129998793	Single nucleotide variant (genic upstream transcript variant)	not provided	GLikely benign
Select item 1316287	NM_021167.5(GATAD1):c.-217C>G	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 510224	NM_021167.5(GATAD1):c.-40C>T	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 668316	NM_021167.5(GATAD1):c.-9C>T	GATAD1, LOC129998793	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
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 2707503	NM_021167.5(GATAD1):c.7C>T (p.Leu3=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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 999382	NM_021167.5(GATAD1):c.22A>T (p.Thr8Ser)	GATAD1, LOC129998793 (T8S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 797231	NM_021167.5(GATAD1):c.27C>T (p.Cys9=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	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 2071664	NM_021167.5(GATAD1):c.36C>T (p.Cys12=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 1917356	NM_021167.5(GATAD1):c.38A>G (p.Lys13Arg)	GATAD1, LOC129998793 (K13R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 1402048	NM_021167.5(GATAD1):c.57G>A (p.Met19Ile)	GATAD1, LOC129998793 (M19I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 392370	NM_021167.5(GATAD1):c.71C>T (p.Ala24Val)	GATAD1, LOC129998793 (A24V)	Single nucleotide variant (missense variant +1 more)	not provided	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 2990279	NM_021167.5(GATAD1):c.84C>T (p.Ile28=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2023990	NM_021167.5(GATAD1):c.102T>C (p.Thr34=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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)	GATAD1-related condition +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 2756728	NM_021167.5(GATAD1):c.109G>A (p.Gly37Ser)	GATAD1, LOC129998793 (G37S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 578819	NM_021167.5(GATAD1):c.109G>C (p.Gly37Arg)	GATAD1, LOC129998793 (G37R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 2158044	NM_021167.5(GATAD1):c.131_144del (p.Ala44fs)	GATAD1, LOC129998793 (A44fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 2B	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 2414978	NM_021167.5(GATAD1):c.141G>A (p.Gly47=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1349772	NM_021167.5(GATAD1):c.145G>T (p.Ala49Ser)	GATAD1, LOC129998793 (A49S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 1566960	NM_021167.5(GATAD1):c.153G>A (p.Gly51=)	GATAD1, LOC129998793	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1442509	NM_021167.5(GATAD1):c.155C>G (p.Thr52Ser)	GATAD1, LOC129998793 (T52S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 45825	NM_021167.5(GATAD1):c.160G>A (p.Gly54Ser)	GATAD1, LOC129998793 (G54S)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 1500685	NM_021167.5(GATAD1):c.163A>T (p.Ser55Cys)	GATAD1, LOC129998793 (S55C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 228693	NM_021167.5(GATAD1):c.166GGC[5] (p.Gly59dup)	GATAD1, LOC129998793	Microsatellite (inframe_insertion +1 more)	Cardiovascular phenotype +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 1007739	NM_021167.5(GATAD1):c.170G>C (p.Gly57Ala)	GATAD1, LOC129998793 (G57A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 1128775	NM_021167.5(GATAD1):c.171C>T (p.Gly57=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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 473162	NM_021167.5(GATAD1):c.184G>T (p.Ala62Ser)	GATAD1, LOC129998793 (A62S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 567498	NM_021167.5(GATAD1):c.185C>T (p.Ala62Val)	GATAD1, LOC129998793 (A62V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 540377	NM_021167.5(GATAD1):c.192C>T (p.Thr64=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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 2724747	NM_021167.5(GATAD1):c.204C>T (p.Thr68=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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 373266	NM_021167.5(GATAD1):c.233del (p.Gly78fs)	GATAD1, LOC129998793 (G78fs)	Deletion (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2912920	NM_021167.5(GATAD1):c.234C>G (p.Gly78=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
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 2016429	NM_021167.5(GATAD1):c.235G>A (p.Gly79Arg)	GATAD1, LOC129998793 (G79R)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 2742516	NM_021167.5(GATAD1):c.237G>A (p.Gly79=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
Select item 953858	NM_021167.5(GATAD1):c.241G>A (p.Gly81Ser)	GATAD1, LOC129998793 (G81S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 2103087	NM_021167.5(GATAD1):c.243C>T (p.Gly81=)	GATAD1, LOC129998793	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 228694	NM_021167.5(GATAD1):c.249+2T>C	GATAD1, LOC129998793	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1077542	NM_021167.5(GATAD1):c.249+8C>T	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 385347	NM_021167.5(GATAD1):c.249+11C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2153770	NM_021167.5(GATAD1):c.249+12C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 227372	NM_021167.5(GATAD1):c.249+13G>A	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 137445	NM_021167.5(GATAD1):c.249+15C>T	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 2058162	NM_021167.5(GATAD1):c.249+18C>A	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1914849	NM_021167.5(GATAD1):c.249+18C>T	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 2910283	NM_021167.5(GATAD1):c.249+20C>T	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 137446	NM_021167.5(GATAD1):c.249+20C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 671241	NM_021167.5(GATAD1):c.249+95C>G	GATAD1, LOC129998793	Single nucleotide variant (intron variant)	not provided	GBenign

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