HAND1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 57483	GRCh38/hg38 5q23.3-33.2(chr5:130860928-155321811)x3	ABLIM3, ACSL6 +1218 more	Copy number gain	See cases	GPathogenic
Select item 58118	GRCh38/hg38 5q32-35.3(chr5:149714592-181272151)x3	LOC132089226, LOC132089227 +1167 more	Copy number gain	See cases	GPathogenic
Select item 149231	GRCh38/hg38 5q33.1-34(chr5:152443869-166104392)x1	ADAM19, ADRA1B +295 more	Copy number loss	See cases	GPathogenic
Select item 58390	GRCh38/hg38 5q33.1-34(chr5:152761187-167248053)x1	ADAM19, ADRA1B +280 more	Copy number loss	See cases	GPathogenic
Select item 2063908	NM_004821.3(HAND1):c.647G>A (p.Ter216=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2067824	NM_004821.3(HAND1):c.640A>C (p.Asn214His)	HAND1 (N214H)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2886080	NM_004821.3(HAND1):c.615G>C (p.Pro205=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2712651	NM_004821.3(HAND1):c.615G>T (p.Pro205=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2175953	NM_004821.3(HAND1):c.609C>G (p.Gly203=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2632015	NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)	HAND1 (G203A)	Single nucleotide variant (missense variant)	HAND1-related disorder +1 more	GUncertain significance
Select item 2420885	NM_004821.3(HAND1):c.606C>T (p.Thr202=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1450516	NM_004821.3(HAND1):c.604A>G (p.Thr202Ala)	HAND1 (T202A)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2086288	NM_004821.3(HAND1):c.600A>G (p.Gly200=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1552152	NM_004821.3(HAND1):c.600A>C (p.Gly200=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 240076	NM_004821.3(HAND1):c.587A>G (p.Lys196Arg)	HAND1 (K196R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2270657	NM_004821.3(HAND1):c.581T>C (p.Val194Ala)	HAND1 (V194A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1916720	NM_004821.3(HAND1):c.579A>C (p.Pro193=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1383106	NM_004821.3(HAND1):c.574G>A (p.Gly192Ser)	HAND1 (G192S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1495405	NM_004821.3(HAND1):c.566C>T (p.Pro189Leu)	HAND1 (P189L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1958995	NM_004821.3(HAND1):c.565C>T (p.Pro189Ser)	HAND1 (P189S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1623814	NM_004821.3(HAND1):c.564T>C (p.Pro188=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2469474	NM_004821.3(HAND1):c.562C>G (p.Pro188Ala)	HAND1 (P188A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104174	NM_004821.3(HAND1):c.551A>G (p.His184Arg)	HAND1 (H184R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1023202	NM_004821.3(HAND1):c.551A>T (p.His184Leu)	HAND1 (H184L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2897860	NM_004821.3(HAND1):c.544-13T>G	HAND1	Single nucleotide variant (intron variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1365402	NM_004821.3(HAND1):c.544-18C>G	HAND1	Single nucleotide variant (intron variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1282978	NM_004821.3(HAND1):c.543+70A>G	HAND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273310	NM_004821.3(HAND1):c.543+52G>C	HAND1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2086340	NM_004821.3(HAND1):c.543+19A>T	HAND1	Single nucleotide variant (intron variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2099273	NM_004821.3(HAND1):c.535A>T (p.Arg179Trp)	HAND1 (R179W)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 413857	NM_004821.3(HAND1):c.531G>C (p.Arg177=)	HAND1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1570143	NM_004821.3(HAND1):c.518G>T (p.Arg173Leu)	HAND1 (R173L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2119795	NM_004821.3(HAND1):c.516C>A (p.Gly172=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2039631	NM_004821.3(HAND1):c.512G>A (p.Gly171Asp)	HAND1 (G171D)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1548125	NM_004821.3(HAND1):c.504G>A (p.Lys168=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3020853	NM_004821.3(HAND1):c.500A>G (p.Lys167Arg)	HAND1 (K167R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1433570	NM_004821.3(HAND1):c.496C>T (p.Leu166Phe)	HAND1 (L166F)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2914477	NM_004821.3(HAND1):c.480G>A (p.Glu160=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2869781	NM_004821.3(HAND1):c.479A>G (p.Glu160Gly)	HAND1 (E160G)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2815171	NM_004821.3(HAND1):c.473A>T (p.Asp158Val)	HAND1 (D158V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1148213	NM_004821.3(HAND1):c.468T>C (p.Ser156=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 413856	NM_004821.3(HAND1):c.468T>G (p.Ser156=)	HAND1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2739349	NM_004821.3(HAND1):c.455A>C (p.Lys152Thr)	HAND1 (K152T)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1509887	NM_004821.3(HAND1):c.454A>G (p.Lys152Glu)	HAND1 (K152E)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1994039	NM_004821.3(HAND1):c.447G>A (p.Val149=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1954447	NM_004821.3(HAND1):c.422G>A (p.Ser141Asn)	HAND1 (S141N)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2122433	NM_004821.3(HAND1):c.420C>T (p.Thr140=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1394020	NM_004821.3(HAND1):c.400A>T (p.Lys134Ter)	HAND1 (K134*)	Single nucleotide variant (nonsense)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2837758	NM_004821.3(HAND1):c.379G>T (p.Asp127Tyr)	HAND1 (D127Y)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2857569	NM_004821.3(HAND1):c.374C>G (p.Pro125Arg)	HAND1 (P125R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2197208	NM_004821.3(HAND1):c.374C>T (p.Pro125Leu)	HAND1 (P125L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2632020	NM_004821.3(HAND1):c.370G>A (p.Val124Met)	HAND1 (V124M)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome +1 more	GUncertain significance
Select item 999716	NM_004821.3(HAND1):c.370G>T (p.Val124Leu)	HAND1 (V124L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2180435	NM_004821.3(HAND1):c.364C>T (p.Pro122Ser)	HAND1 (P122S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1597432	NM_004821.3(HAND1):c.357G>C (p.Glu119Asp)	HAND1 (E119D)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2892027	NM_004821.3(HAND1):c.355G>C (p.Glu119Gln)	HAND1 (E119Q)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1623502	NM_004821.3(HAND1):c.345G>T (p.Ala115=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2761285	NM_004821.3(HAND1):c.339A>C (p.Ala113=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1550666	NM_004821.3(HAND1):c.339A>G (p.Ala113=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3283441	NM_004821.3(HAND1):c.310C>G (p.Arg104Gly)	HAND1 (R104G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2177881	NM_004821.3(HAND1):c.308A>G (p.Glu103Gly)	HAND1 (E103G)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 240075	NM_004821.3(HAND1):c.289G>T (p.Gly97Cys)	HAND1 (G97C)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1999641	NM_004821.3(HAND1):c.280C>A (p.Arg94=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1145336	NM_004821.3(HAND1):c.279C>T (p.Gly93=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2893645	NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)	HAND1 (R91G)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1399711	NM_004821.3(HAND1):c.271C>A (p.Arg91Ser)	HAND1 (R91S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1596270	NM_004821.3(HAND1):c.261G>T (p.Ala87=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 528329	NM_004821.3(HAND1):c.257A>T (p.Glu86Val)	HAND1 (E86V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1133411	NM_004821.3(HAND1):c.252G>A (p.Arg84=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2048857	NM_004821.3(HAND1):c.250C>G (p.Arg84Gly)	HAND1 (R84G)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2333168	NM_004821.3(HAND1):c.247G>A (p.Gly83Arg)	HAND1 (G83R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 252637	NM_004821.3(HAND1):c.247G>T (p.Gly83Trp)	HAND1 (G83W)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome +1 more	GBenign/Likely benign
Select item 1372110	NM_004821.3(HAND1):c.245C>T (p.Pro82Leu)	HAND1 (P82L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1604914	NM_004821.3(HAND1):c.237G>A (p.Gly79=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2964424	NM_004821.3(HAND1):c.235G>C (p.Gly79Arg)	HAND1 (G79R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2886096	NM_004821.3(HAND1):c.231G>T (p.Arg77Ser)	HAND1 (R77S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1624724	NM_004821.3(HAND1):c.225C>T (p.Asp75=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1580133	NM_004821.3(HAND1):c.219T>C (p.Gly73=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1019101	NM_004821.3(HAND1):c.215A>G (p.Tyr72Cys)	HAND1 (Y72C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1956548	NM_004821.3(HAND1):c.210C>A (p.Thr70=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1582158	NM_004821.3(HAND1):c.204C>T (p.Ala68=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1404364	NM_004821.3(HAND1):c.202G>C (p.Ala68Pro)	HAND1 (A68P)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1974560	NM_004821.3(HAND1):c.196G>A (p.Ala66Thr)	HAND1 (A66T)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 656575	NM_004821.3(HAND1):c.187C>T (p.Pro63Ser)	HAND1 (P63S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2056807	NM_004821.3(HAND1):c.186G>T (p.Pro62=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1604176	NM_004821.3(HAND1):c.183G>A (p.Pro61=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2715598	NM_004821.3(HAND1):c.182C>A (p.Pro61Gln)	HAND1 (P61Q)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 528330	NM_004821.3(HAND1):c.180G>A (p.Gly60=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GBenign
Select item 2712836	NM_004821.3(HAND1):c.174G>T (p.Ala58=)	HAND1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1446649	NM_004821.3(HAND1):c.174G>A (p.Ala58=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 698415	NM_004821.3(HAND1):c.174G>C (p.Ala58=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2960457	NM_004821.3(HAND1):c.173C>A (p.Ala58Glu)	HAND1 (A58E)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1927777	NM_004821.3(HAND1):c.173C>T (p.Ala58Val)	HAND1 (A58V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2876399	NM_004821.3(HAND1):c.168C>G (p.Phe56Leu)	HAND1 (F56L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 695808	NM_004821.3(HAND1):c.162G>A (p.Pro54=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome +1 more	GBenign/Likely benign
Select item 1988182	NM_004821.3(HAND1):c.161C>T (p.Pro54Leu)	HAND1 (P54L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1406901	NM_004821.3(HAND1):c.161C>G (p.Pro54Arg)	HAND1 (P54R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2181456	NM_004821.3(HAND1):c.158C>T (p.Ala53Val)	HAND1 (A53V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1396928	NM_004821.3(HAND1):c.152A>T (p.Asp51Val)	HAND1 (D51V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance

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