GATAD1[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1262925	NC_000007.14:g.92447335C>A	GATAD1	Single nucleotide variant	not provided	GBenign
Select item 1182112	NM_021167.5(GATAD1):c.249+199A>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316759	NM_021167.5(GATAD1):c.249+311G>T	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317565	NM_021167.5(GATAD1):c.250-316A>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883559	NM_021167.5(GATAD1):c.250-19T>C	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1981057	NM_021167.5(GATAD1):c.250-11_250-8del	GATAD1	Microsatellite (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1662432	NM_021167.5(GATAD1):c.250-14T>G	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
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)	Dilated cardiomyopathy 2B +2 more	GBenign/Likely benign
Select item 1131412	NM_021167.5(GATAD1):c.285C>G (p.Leu95=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely 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 2824454	NM_021167.5(GATAD1):c.288A>T (p.Arg96Ser)	GATAD1 (R96S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 638934	NM_021167.5(GATAD1):c.299A>G (p.Tyr100Cys)	GATAD1 (Y100C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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 31656	NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro)	GATAD1 (S102P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GPathogenic
Select item 2914061	NM_021167.5(GATAD1):c.306T>A (p.Ser102=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1414569	NM_021167.5(GATAD1):c.307G>T (p.Ala103Ser)	GATAD1 (A103S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 857748	NM_021167.5(GATAD1):c.308C>T (p.Ala103Val)	GATAD1 (A103V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 847058	NM_021167.5(GATAD1):c.311_312delinsAA (p.Pro104Gln)	GATAD1 (P104Q)	Indel (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 837705	NM_021167.5(GATAD1):c.311C>T (p.Pro104Leu)	GATAD1 (P104L)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 942669	NM_021167.5(GATAD1):c.353G>A (p.Arg118Lys)	GATAD1 (R118K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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 1400160	NM_021167.5(GATAD1):c.375+3A>G	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 1618781	NM_021167.5(GATAD1):c.375+7T>G	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1624156	NM_021167.5(GATAD1):c.375+18A>G	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1266953	NM_021167.5(GATAD1):c.375+202T>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675497	NM_021167.5(GATAD1):c.376-56A>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 228695	NM_021167.5(GATAD1):c.376-13dup	GATAD1	Duplication	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2191549	NM_021167.5(GATAD1):c.376-5C>T	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 3227582	NM_021167.5(GATAD1):c.376-4A>G	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 1494990	NM_021167.5(GATAD1):c.389C>A (p.Pro130His)	GATAD1 (P130H)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
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)	Cardiovascular phenotype +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 227373	NM_021167.5(GATAD1):c.435+15_435+16del	GATAD1	Microsatellite (intron variant)	not specified	GLikely benign
Select item 1317770	NM_021167.5(GATAD1):c.435+251G>A	GATAD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678495	NM_021167.5(GATAD1):c.436-234C>G	GATAD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2744837	NM_021167.5(GATAD1):c.436-17T>C	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 2701090	NM_021167.5(GATAD1):c.436-13_436-12del	GATAD1	Deletion (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 227374	NM_021167.5(GATAD1):c.436-13del	GATAD1	Deletion (intron variant)	not specified	GLikely benign
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 2100780	NM_021167.5(GATAD1):c.456T>C (p.Gly152=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	GLikely benign
Select item 411577	NM_021167.5(GATAD1):c.466T>G (p.Ser156Ala)	GATAD1 (S156A)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 227375	NM_021167.5(GATAD1):c.468T>C (p.Ser156=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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 3280859	NM_021167.5(GATAD1):c.484G>C (p.Asp162His)	GATAD1 (D162H)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 45827	NM_021167.5(GATAD1):c.492G>A (p.Lys164=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 2758817	NM_021167.5(GATAD1):c.503C>G (p.Ala168Gly)	GATAD1 (A168G)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 758086	NM_021167.5(GATAD1):c.504T>C (p.Ala168=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 964944	NM_021167.5(GATAD1):c.507A>G (p.Gln169=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B +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)	Dilated cardiomyopathy 2B +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)	Cardiovascular phenotype +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)	Dilated cardiomyopathy 2B +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 2698940	NM_021167.5(GATAD1):c.538G>C (p.Glu180Gln)	GATAD1 (E180Q)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 639273	NM_021167.5(GATAD1):c.539A>T (p.Glu180Val)	GATAD1 (E180V)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2168178	NM_021167.5(GATAD1):c.547G>A (p.Ala183Thr)	GATAD1 (A183T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 3280860	NM_021167.5(GATAD1):c.550G>C (p.Ala184Pro)	GATAD1 (A184P)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	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)	Dilated cardiomyopathy 2B +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 373242	NM_021167.5(GATAD1):c.575T>C (p.Leu192Pro)	GATAD1 (L192P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 1150286	NM_021167.5(GATAD1):c.576C>A (p.Leu192=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 2B	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 1924122	NM_021167.5(GATAD1):c.583C>A (p.Pro195Thr)	GATAD1 (P195T)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 511020	NM_021167.5(GATAD1):c.585C>G (p.Pro195=)	GATAD1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
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)	not specified +2 more	GLikely benign
Select item 2823732	NM_021167.5(GATAD1):c.604G>C (p.Ala202Pro)	GATAD1 (A202P)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 540376	NM_021167.5(GATAD1):c.604G>T (p.Ala202Ser)	GATAD1 (A202S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 163499	NM_021167.5(GATAD1):c.604G>A (p.Ala202Thr)	GATAD1 (A202T)	Single nucleotide variant (missense variant +1 more)	not specified +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)	Dilated cardiomyopathy 2B +1 more	GUncertain significance
Select item 201784	NM_021167.5(GATAD1):c.613A>G (p.Ile205Val)	GATAD1 (I205V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1954533	NM_021167.5(GATAD1):c.619+11C>A	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1612584	NM_021167.5(GATAD1):c.619+16G>A	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 2146770	NM_021167.5(GATAD1):c.619+19A>G	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1317685	NM_021167.5(GATAD1):c.619+32dup	GATAD1	Duplication (intron variant)	not provided	GLikely benign
Select item 2083671	NM_021167.5(GATAD1):c.620-17C>T	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 1975952	NM_021167.5(GATAD1):c.620-16C>G	GATAD1	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 2B	GLikely benign
Select item 2625758	NM_021167.5(GATAD1):c.620-4C>T	GATAD1	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 3280861	NM_021167.5(GATAD1):c.622C>T (p.Pro208Ser)	GATAD1 (P208S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
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 1414222	NM_021167.5(GATAD1):c.627G>T (p.Glu209Asp)	GATAD1 (E209D)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	GUncertain significance
Select item 1353904	NM_021167.5(GATAD1):c.632A>T (p.Asp211Val)	GATAD1 (D211V)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 2B	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

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