ClinVar for Gene (Select 3008) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3373696	NM_005321.3(H1-4):c.322_324delinsTAT (p.Asn108Tyr)	H1-4 (N108Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 3369231	NM_005321.3(H1-4):c.513A>T (p.Lys171Asn)	H1-4 (K171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365715	NM_005321.3(H1-4):c.548_549del (p.Lys183fs)	H1-4 (K183fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3364416	NM_005321.3(H1-4):c.658_660del (p.Ter220del)	H1-4 (:220del)	Deletion (stop lost)	not provided	GUncertain significance
Select item 3350462	NM_005321.3(H1-4):c.-1C>G	H1-4	Single nucleotide variant (5 prime UTR variant)	H1-4-related disorder	GUncertain significance
Select item 3340665	NM_005321.3(H1-4):c.446_447insT (p.Lys149fs)	H1-4 (K149fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 3338096	NM_005321.3(H1-4):c.502_518del (p.Lys168fs)	H1-4 (K168fs)	Deletion (frameshift variant)	Rahman syndrome	GLikely pathogenic
Select item 3336891	NM_005321.3(H1-4):c.436dup (p.Thr146fs)	H1-4 (T146fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 3283272	NM_005321.3(H1-4):c.56C>T (p.Pro19Leu)	H1-4 (P19L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283271	NM_005321.3(H1-4):c.272G>C (p.Gly91Ala)	H1-4 (G91A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283270	NM_005321.3(H1-4):c.74G>T (p.Arg25Leu)	H1-4 (R25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283269	NM_005321.3(H1-4):c.329A>C (p.Lys110Thr)	H1-4 (K110T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283268	NM_005321.3(H1-4):c.328A>G (p.Lys110Glu)	H1-4 (K110E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283267	NM_005321.3(H1-4):c.340G>A (p.Gly114Arg)	H1-4 (G114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283266	NM_005321.3(H1-4):c.481C>T (p.Pro161Ser)	H1-4 (P161S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283265	NM_005321.3(H1-4):c.373G>A (p.Ala125Thr)	H1-4 (A125T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283264	NM_005321.3(H1-4):c.104C>T (p.Ala35Val)	H1-4 (A35V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3252590	NM_005321.3(H1-4):c.636del (p.Lys213fs)	H1-4 (K213fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3250889	NM_005321.3(H1-4):c.240C>T (p.Ile80=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3103581	NM_005321.3(H1-4):c.94A>C (p.Lys32Gln)	H1-4 (K32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103580	NM_005321.3(H1-4):c.89C>G (p.Ala30Gly)	H1-4 (A30G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103578	NM_005321.3(H1-4):c.88G>A (p.Ala30Thr)	H1-4 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103577	NM_005321.3(H1-4):c.83C>T (p.Ala28Val)	H1-4 (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103576	NM_005321.3(H1-4):c.653A>G (p.Lys218Arg)	H1-4 (K218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103575	NM_005321.3(H1-4):c.630G>T (p.Lys210Asn)	H1-4 (K210N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103574	NM_005321.3(H1-4):c.586C>T (p.Pro196Ser)	H1-4 (P196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103573	NM_005321.3(H1-4):c.577G>A (p.Ala193Thr)	H1-4 (A193T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103572	NM_005321.3(H1-4):c.562C>T (p.Pro188Ser)	H1-4 (P188S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103571	NM_005321.3(H1-4):c.554C>G (p.Pro185Arg)	H1-4 (P185R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103570	NM_005321.3(H1-4):c.53C>T (p.Thr18Ile)	H1-4 (T18I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103569	NM_005321.3(H1-4):c.533C>T (p.Ala178Val)	H1-4 (A178V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103568	NM_005321.3(H1-4):c.527C>G (p.Ala176Gly)	H1-4 (A176G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103567	NM_005321.3(H1-4):c.49A>G (p.Lys17Glu)	H1-4 (K17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103566	NM_005321.3(H1-4):c.485C>G (p.Ala162Gly)	H1-4 (A162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103565	NM_005321.3(H1-4):c.461C>A (p.Thr154Asn)	H1-4 (T154N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103564	NM_005321.3(H1-4):c.459G>C (p.Lys153Asn)	H1-4 (K153N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103563	NM_005321.3(H1-4):c.454A>C (p.Lys152Gln)	H1-4 (K152Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103562	NM_005321.3(H1-4):c.421G>C (p.Ala141Pro)	H1-4 (A141P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103561	NM_005321.3(H1-4):c.401C>T (p.Ala134Val)	H1-4 (A134V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103560	NM_005321.3(H1-4):c.395C>T (p.Ala132Val)	H1-4 (A132V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103559	NM_005321.3(H1-4):c.38C>T (p.Ala13Val)	H1-4 (A13V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103558	NM_005321.3(H1-4):c.376G>A (p.Ala126Thr)	H1-4 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103557	NM_005321.3(H1-4):c.374C>T (p.Ala125Val)	H1-4 (A125V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103556	NM_005321.3(H1-4):c.366G>T (p.Lys122Asn)	H1-4 (K122N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103555	NM_005321.3(H1-4):c.356A>C (p.Lys119Thr)	H1-4 (K119T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103554	NM_005321.3(H1-4):c.350A>G (p.Lys117Arg)	H1-4 (K117R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103553	NM_005321.3(H1-4):c.32C>T (p.Ala11Val)	H1-4 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103552	NM_005321.3(H1-4):c.29C>T (p.Ala10Val)	H1-4 (A10V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3103551	NM_005321.3(H1-4):c.297_298insA (p.Gly100fs)	H1-4 (G100fs)	Insertion (frameshift variant)	not specified	GUncertain significance
Select item 3103550	NM_005321.3(H1-4):c.194C>T (p.Ala65Val)	H1-4 (A65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3103549	NM_005321.3(H1-4):c.173C>T (p.Ser58Phe)	H1-4 (S58F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064024	NM_005321.3(H1-4):c.410_415delinsTCCT (p.Lys137fs)	H1-4 (K137fs)	Indel (frameshift variant)	Rahman syndrome	GPathogenic
Select item 3058379	NM_005321.3(H1-4):c.117G>A (p.Pro39=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3058172	NM_005321.3(H1-4):c.425C>T (p.Thr142Met)	H1-4 (T142M)	Single nucleotide variant (missense variant)	H1-4-related disorder	GLikely benign
Select item 3055132	NM_005321.3(H1-4):c.336C>T (p.Ala112=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related disorder	GLikely benign
Select item 3045623	NM_005321.3(H1-4):c.561C>T (p.Ser187=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related disorder	GLikely benign
Select item 3032188	NM_005321.3(H1-4):c.111G>A (p.Gly37=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related disorder	GLikely benign
Select item 3030566	NM_005321.3(H1-4):c.377C>T (p.Ala126Val)	H1-4 (A126V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3029846	NM_005321.3(H1-4):c.609C>T (p.Thr203=)	H1-4	Single nucleotide variant (synonymous variant)	H1-4-related disorder	GLikely benign
Select item 3025631	NM_005321.3(H1-4):c.204C>T (p.Ala68=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025591	NM_005321.3(H1-4):c.55C>T (p.Pro19Ser)	H1-4 (P19S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3024464	NM_005321.3(H1-4):c.410dup (p.Pro138fs)	H1-4 (P138fs)	Duplication (frameshift variant)	Rahman syndrome	GPathogenic
Select item 2690479	NM_005321.3(H1-4):c.548A>G (p.Lys183Arg)	H1-4 (K183R)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2685197	GRCh37/hg19 6p22.3-22.2(chr6:21704602-26187420)x1	ACOT13, ALDH5A1 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 2673046	NM_005321.3(H1-4):c.210C>T (p.Gly70=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2663829	NM_005321.3(H1-4):c.455AGA[1] (p.Lys153del)	H1-4 (K153del)	Microsatellite (inframe_deletion)	Rahman syndrome	GPathogenic
Select item 2661931	NM_005321.3(H1-4):c.43_54dup (p.Thr18_Pro19insAlaGluLysThr)	H1-4	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2656307	NM_005321.3(H1-4):c.606G>A (p.Lys202=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656306	NM_005321.3(H1-4):c.485C>T (p.Ala162Val)	H1-4 (A162V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656305	NM_005321.3(H1-4):c.431C>T (p.Ala144Val)	H1-4 (A144V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2656304	NM_005321.3(H1-4):c.378C>T (p.Ala126=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656303	NM_005321.3(H1-4):c.339T>C (p.Ser113=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656302	NM_005321.3(H1-4):c.276C>G (p.Thr92=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656301	NM_005321.3(H1-4):c.171A>G (p.Val57=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656300	NM_005321.3(H1-4):c.105G>T (p.Ala35=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656299	NM_005321.3(H1-4):c.14C>T (p.Ala5Val)	H1-4 (A5V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656298	NM_005321.3(H1-4):c.-6T>C	H1-4	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2637866	NM_005321.3(H1-4):c.341G>A (p.Gly114Glu)	H1-4 (G114E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2631828	NM_005321.3(H1-4):c.445_446del (p.Lys149fs)	H1-4 (K149fs)	Deletion (frameshift variant)	H1-4-related disorder	GPathogenic
Select item 2624031	NM_005321.3(H1-4):c.548A>T (p.Lys183Met)	H1-4 (K183M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617766	NM_005321.3(H1-4):c.319C>G (p.Leu107Val)	H1-4 (L107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611020	NM_005321.3(H1-4):c.167G>C (p.Gly56Ala)	H1-4 (G56A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599030	NM_005321.3(H1-4):c.89C>T (p.Ala30Val)	H1-4 (A30V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2591290	NM_005321.3(H1-4):c.610G>A (p.Ala204Thr)	H1-4 (A204T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2588960	NM_005321.3(H1-4):c.422C>T (p.Ala141Val)	H1-4 (A141V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2580814	NM_005321.3(H1-4):c.85G>T (p.Gly29Cys)	H1-4 (G29C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577944	NM_005321.3(H1-4):c.444dup (p.Lys149fs)	H1-4 (K149fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2572223	NM_005321.3(H1-4):c.152C>T (p.Ser51Phe)	H1-4 (S51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2537819	NM_005321.3(H1-4):c.641C>T (p.Ala214Val)	H1-4 (A214V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2508801	NM_005321.3(H1-4):c.623C>T (p.Ala208Val)	H1-4 (A208V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502562	NM_005321.3(H1-4):c.2T>A (p.Met1Lys)	H1-4 (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2477415	NM_005321.3(H1-4):c.493G>A (p.Ala165Thr)	H1-4 (A165T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463445	NM_005321.3(H1-4):c.332C>T (p.Ala111Val)	H1-4 (A111V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2459362	NM_005321.3(H1-4):c.134C>T (p.Thr45Ile)	H1-4 (T45I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1879649	NM_005321.3(H1-4):c.611C>G (p.Ala204Gly)	H1-4 (A204G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1707045	NM_005321.3(H1-4):c.658T>G (p.Ter220Glu)	H1-4	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1702696	NM_005321.3(H1-4):c.220_222del (p.Glu74del)	H1-4 (E74del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1696708	NM_005321.3(H1-4):c.526G>T (p.Ala176Ser)	H1-4 (A176S)	Single nucleotide variant (missense variant)	Rahman syndrome	GUncertain significance
Select item 1695153	NM_005321.3(H1-4):c.462C>T (p.Thr154=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1695152	NM_005321.3(H1-4):c.129C>T (p.Leu43=)	H1-4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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