ClinVar for MedGen (Select 57746) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 161

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3723270	NM_004821.3(HAND1):c.599G>A (p.Gly200Glu)	HAND1 (G200E)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3719347	NM_004821.3(HAND1):c.410G>T (p.Arg137Leu)	HAND1 (R137L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3718057	NM_004821.3(HAND1):c.44A>C (p.His15Pro)	HAND1 (H15P)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3716513	NM_004821.3(HAND1):c.445G>T (p.Val149Leu)	HAND1 (V149L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3715085	NM_004821.3(HAND1):c.7C>A (p.Leu3Ile)	HAND1 (L3I)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3708585	NM_004821.3(HAND1):c.98C>T (p.Ser33Leu)	HAND1 (S33L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3708375	NM_004821.3(HAND1):c.375G>A (p.Pro125=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3706445	NM_004821.3(HAND1):c.613C>A (p.Pro205Thr)	HAND1 (P205T)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3704279	NM_004821.3(HAND1):c.178G>C (p.Gly60Arg)	HAND1 (G60R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3702840	NM_004821.3(HAND1):c.147G>C (p.Pro49=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3702661	NM_004821.3(HAND1):c.319A>C (p.Thr107Pro)	HAND1 (T107P)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3701619	NM_004821.3(HAND1):c.628G>C (p.Ala210Pro)	HAND1 (A210P)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3696009	NM_004821.3(HAND1):c.22G>T (p.Ala8Ser)	HAND1 (A8S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3687537	NM_004821.3(HAND1):c.154G>A (p.Ala52Thr)	HAND1 (A52T)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3686819	NM_004821.3(HAND1):c.402G>T (p.Lys134Asn)	HAND1 (K134N)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3681565	NM_004821.3(HAND1):c.159C>G (p.Ala53=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3672589	NM_004821.3(HAND1):c.4A>G (p.Asn2Asp)	HAND1 (N2D)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3663987	NM_004821.3(HAND1):c.36C>T (p.His12=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3653153	NM_004821.3(HAND1):c.159C>T (p.Ala53=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 3650799	NM_004821.3(HAND1):c.7C>T (p.Leu3Phe)	HAND1 (L3F)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3645879	NM_004821.3(HAND1):c.629C>T (p.Ala210Val)	HAND1 (A210V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 3627595	NM_004821.3(HAND1):c.444C>A (p.Asp148Glu)	HAND1 (D148E)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
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 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 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 2958199	NM_004821.3(HAND1):c.6C>A (p.Asn2Lys)	HAND1 (N2K)	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 2908835	NM_004821.3(HAND1):c.96C>T (p.Ala32=)	HAND1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 2893645	NM_004821.3(HAND1):c.271C>G (p.Arg91Gly)	HAND1 (R91G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
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 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 2886080	NM_004821.3(HAND1):c.615G>C (p.Pro205=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2884973	NM_004821.3(HAND1):c.112G>A (p.Glu38Lys)	HAND1 (E38K)	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 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 2863537	NM_004821.3(HAND1):c.51C>G (p.His17Gln)	HAND1 (H17Q)	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 2854719	NM_004821.3(HAND1):c.111G>C (p.Gln37His)	HAND1 (Q37H)	Single nucleotide variant (missense variant)	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 2827454	NM_004821.3(HAND1):c.110A>G (p.Gln37Arg)	HAND1 (Q37R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2821714	NM_004821.3(HAND1):c.72C>G (p.His24Gln)	HAND1 (H24Q)	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 2769784	NM_004821.3(HAND1):c.36C>A (p.His12Gln)	HAND1 (H12Q)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
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 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 2722451	NM_004821.3(HAND1):c.126C>A (p.Phe42Leu)	HAND1 (F42L)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
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 2712836	NM_004821.3(HAND1):c.174G>T (p.Ala58=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome +1 more	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 2696724	NM_004821.3(HAND1):c.55_63dup (p.Pro21_Met22insAlaHisPro)	HAND1	Duplication (inframe_insertion)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2692441	NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)	MYH6 (G408D)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GLikely pathogenic
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 2632015	NM_004821.3(HAND1):c.608G>C (p.Gly203Ala)	HAND1 (G203A)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome +1 more	GUncertain significance
Select item 2469474	NM_004821.3(HAND1):c.562C>G (p.Pro188Ala)	HAND1 (P188A)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2425232	NC_000005.9:g.(?_153855366)_(153857568_?)dup	HAND1	Duplication	Hypoplastic left heart syndrome	GUncertain significance
Select item 2425231	NC_000005.9:g.(?_153855366)_(153857568_?)del	HAND1	Deletion	Hypoplastic left heart syndrome	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 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 2194504	NM_004821.3(HAND1):c.7C>G (p.Leu3Val)	HAND1 (L3V)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2184070	NM_004821.3(HAND1):c.76C>T (p.Pro26Ser)	HAND1 (P26S)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GLikely benign
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 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 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 2175953	NM_004821.3(HAND1):c.609C>G (p.Gly203=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2169888	NM_004821.3(HAND1):c.146C>G (p.Pro49Arg)	HAND1 (P49R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2150186	NM_004821.3(HAND1):c.29ATCACCACC[1] (p.His13_His15del)	HAND1	Microsatellite (inframe_deletion)	Hypoplastic left heart syndrome	GUncertain significance
Select item 2139274	NM_004821.3(HAND1):c.1A>G (p.Met1Val)	HAND1 (M1V)	Single nucleotide variant (missense variant +1 more)	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 2119795	NM_004821.3(HAND1):c.516C>A (p.Gly172=)	HAND1	Single nucleotide variant (synonymous 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 2091151	NM_004821.3(HAND1):c.37C>T (p.His13Tyr)	HAND1 (H13Y)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
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 2086288	NM_004821.3(HAND1):c.600A>G (p.Gly200=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
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 2063908	NM_004821.3(HAND1):c.647G>A (p.Ter216=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 2060146	NM_004821.3(HAND1):c.118C>A (p.Pro40Thr)	HAND1 (P40T)	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 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 2044852	NM_004821.3(HAND1):c.132C>G (p.Ser44Arg)	HAND1 (S44R)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome +2 more	GUncertain significance
Select item 2040057	NM_004821.3(HAND1):c.88G>A (p.Gly30Ser)	HAND1 (G30S)	Single nucleotide variant (missense 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 1999641	NM_004821.3(HAND1):c.280C>A (p.Arg94=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
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 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 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 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 1956548	NM_004821.3(HAND1):c.210C>A (p.Thr70=)	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 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 1916720	NM_004821.3(HAND1):c.579A>C (p.Pro193=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
Select item 1720871	NM_004821.3(HAND1):c.10G>A (p.Val4Met)	HAND1 (V4M)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome	GUncertain significance
Select item 1699029	NM_001349999.2(RBFOX2):c.352C>T (p.Gln118Ter)	RBFOX2 (Q118* +2 more)	Single nucleotide variant (nonsense)	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 1623814	NM_004821.3(HAND1):c.564T>C (p.Pro188=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign
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 1604914	NM_004821.3(HAND1):c.237G>A (p.Gly79=)	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 1597432	NM_004821.3(HAND1):c.357G>C (p.Glu119Asp)	HAND1 (E119D)	Single nucleotide variant (missense variant)	Hypoplastic left heart syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1596270	NM_004821.3(HAND1):c.261G>T (p.Ala87=)	HAND1	Single nucleotide variant (synonymous variant)	Hypoplastic left heart syndrome	GLikely benign

<< First< Prev

Page of 2