ClinVar for Gene (Select 3299) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376935	NM_001374675.1(HSF4):c.965C>G (p.Pro322Arg)	HSF4 (P292R +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 3376746	NM_001374675.1(HSF4):c.1213C>T (p.Arg405Ter)	HSF4 (R375* +1 more)	Single nucleotide variant (nonsense)	Cataract 5 multiple types	GPathogenic
Select item 3360708	NM_001374675.1(HSF4):c.158G>A (p.Arg53His)	HSF4 (R53H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3347734	NM_001374675.1(HSF4):c.233A>C (p.Tyr78Ser)	HSF4 (Y78S)	Single nucleotide variant (missense variant)	HSF4-related disorder	GUncertain significance
Select item 3344292	NM_001374675.1(HSF4):c.352C>G (p.Arg118Gly)	HSF4 (R118G)	Single nucleotide variant (missense variant)	HSF4-related disorder	GUncertain significance
Select item 3340602	NM_001374675.1(HSF4):c.187T>C (p.Phe63Leu)	HSF4 (F63L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3284891	NM_001374675.1(HSF4):c.849C>A (p.Gly283=)	HSF4 (A288E)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3107223	NM_001374675.1(HSF4):c.779C>T (p.Pro260Leu)	HSF4 (P265S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107222	NM_001374675.1(HSF4):c.599C>T (p.Pro200Leu)	HSF4 (P200L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107221	NM_001374675.1(HSF4):c.364C>A (p.Pro122Thr)	HSF4 (P122T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107220	NM_001374675.1(HSF4):c.1406C>A (p.Ala469Asp)	HSF4 (A439D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107219	NM_001374675.1(HSF4):c.1391T>C (p.Leu464Pro)	HSF4 (L434P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3107218	NM_001374675.1(HSF4):c.1237G>A (p.Asp413Asn)	HSF4 (D383N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3047298	NM_018378.3(FBXL8):c.*191C>G	FBXL8, HSF4	Single nucleotide variant (3 prime UTR variant +1 more)	FBXL8-related disorder	GLikely benign
Select item 3041882	NM_001374675.1(HSF4):c.915C>T (p.Ala305=)	HSF4	Single nucleotide variant (synonymous variant +1 more)	HSF4-related disorder	GBenign
Select item 3036843	NM_001374675.1(HSF4):c.1104C>T (p.Ser368=)	HSF4	Single nucleotide variant (synonymous variant)	HSF4-related disorder	GLikely benign
Select item 3033052	NM_001374675.1(HSF4):c.1132C>T (p.Pro378Ser)	HSF4 (P348S +1 more)	Single nucleotide variant (missense variant)	HSF4-related disorder	GLikely benign
Select item 3032590	NM_001374675.1(HSF4):c.1213C>A (p.Arg405=)	HSF4	Single nucleotide variant (synonymous variant)	HSF4-related disorder	GLikely benign
Select item 2881886	NM_001374675.1(HSF4):c.40C>A (p.Pro14Thr)	HSF4, LOC125177334 (P14T)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2812611	NM_001374675.1(HSF4):c.730-22G>A	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GLikely benign
Select item 2806742	NM_001374675.1(HSF4):c.413G>A (p.Arg138Gln)	HSF4 (R138Q)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2740101	NM_001374675.1(HSF4):c.561+16del	HSF4	Deletion (intron variant)	Cataract 5 multiple types	GLikely benign
Select item 2729322	NM_001374675.1(HSF4):c.821G>A (p.Gly274Glu)	HSF4 (G279R +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2728063	NM_001374675.1(HSF4):c.33G>T (p.Glu11Asp)	HSF4, LOC125177334 (E11D)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2718138	NM_001374675.1(HSF4):c.1475C>T (p.Pro492Leu)	HSF4 (P492L +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2684807	GRCh37/hg19 16q21-22.1(chr16:66110708-67240652)x3	B3GNT9, BEAN1 +30 more	Copy number gain	not provided	GUncertain significance
Select item 2636718	NM_001374675.1(HSF4):c.406C>G (p.Leu136Val)	HSF4 (L136V)	Single nucleotide variant (missense variant)	HSF4-related disorder	GUncertain significance
Select item 2636308	NM_001374675.1(HSF4):c.562-1G>C	HSF4	Single nucleotide variant (splice acceptor variant)	HSF4-related disorder	GUncertain significance
Select item 2636293	NM_001374675.1(HSF4):c.7G>T (p.Glu3Ter)	HSF4, LOC125177334 (E3*)	Single nucleotide variant (nonsense)	HSF4-related disorder	GLikely pathogenic
Select item 2634990	NM_001374675.1(HSF4):c.904del (p.Asp302fs)	HSF4 (D302fs)	Deletion (frameshift variant +1 more)	HSF4-related disorder	GLikely pathogenic
Select item 2615767	NM_001374675.1(HSF4):c.1367A>C (p.Gln456Pro)	HSF4 (Q426P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2606530	NM_001374675.1(HSF4):c.92C>T (p.Pro31Leu)	HSF4 (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592164	NM_001374675.1(HSF4):c.157C>T (p.Arg53Cys)	HSF4 (R53C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2561262	NM_001374675.1(HSF4):c.1219T>A (p.Trp407Arg)	HSF4 (W377R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2556076	NM_001374675.1(HSF4):c.815C>A (p.Pro272His)	HSF4 (P272H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515860	NM_001374675.1(HSF4):c.1364T>C (p.Val455Ala)	HSF4 (V455A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493853	NM_001374675.1(HSF4):c.1447T>C (p.Tyr483His)	HSF4 (Y453H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470818	NM_001374675.1(HSF4):c.686C>T (p.Pro229Leu)	HSF4 (P229L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463079	NM_001374675.1(HSF4):c.319G>T (p.Val107Leu)	HSF4 (V107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459582	NM_001374675.1(HSF4):c.728C>T (p.Ser243Leu)	HSF4 (S243L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2431622	NM_001374675.1(HSF4):c.627-2A>G	HSF4	Single nucleotide variant (splice acceptor variant)	Cataract 5 multiple types	GPathogenic
Select item 2424194	NC_000016.9:g.(?_65821800)_(67208957_?)del	B3GNT9, BEAN1 +25 more	Deletion	not provided	GPathogenic
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2391394	NM_001374675.1(HSF4):c.353G>A (p.Arg118Gln)	HSF4 (R118Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328891	NM_001374675.1(HSF4):c.1277G>C (p.Arg426Pro)	HSF4 (R396P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316438	NM_001374675.1(HSF4):c.431A>G (p.Gln144Arg)	HSF4 (Q144R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285233	NM_001374675.1(HSF4):c.1325G>A (p.Gly442Glu)	HSF4, LOC130059183 (G442E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264611	NM_001374675.1(HSF4):c.384C>A (p.Asp128Glu)	HSF4 (D128E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259686	NM_001374675.1(HSF4):c.214G>A (p.Val72Met)	HSF4 (V72M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2137837	NM_001374675.1(HSF4):c.69G>T (p.Lys23Asn)	HSF4 (K23N)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GPathogenic
Select item 2116889	NM_001374675.1(HSF4):c.217C>T (p.Arg73Cys)	HSF4 (R73C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2048803	NM_001374675.1(HSF4):c.1475C>G (p.Pro492Arg)	HSF4 (P492R +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 2021439	NM_001374675.1(HSF4):c.361-17G>A	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GLikely benign
Select item 1999411	NM_001374675.1(HSF4):c.353G>C (p.Arg118Pro)	HSF4 (R118P)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 1997623	NM_001374675.1(HSF4):c.360G>A (p.Lys120=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GUncertain significance
Select item 1995440	NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)	HSF4 (Q190*)	Single nucleotide variant (nonsense)	Cataract 5 multiple types	GPathogenic
Select item 1971528	NM_001374675.1(HSF4):c.322C>A (p.Arg108Ser)	HSF4 (R108S)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 1803199	NM_001374675.1(HSF4):c.899G>T (p.Gly300Val)	HSF4 (G300V)	Single nucleotide variant (missense variant +1 more)	Cataract 5 multiple types	GUncertain significance
Select item 1707390	NM_001374675.1(HSF4):c.627-71G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1705131	NM_001374675.1(HSF4):c.156C>A (p.Ser52Arg)	HSF4 (S52R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704036	NM_001374675.1(HSF4):c.851G>A (p.Arg284Lys)	HSF4 (G289R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1697123	NM_001374675.1(HSF4):c.1254+1G>T	HSF4	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1687291	NM_001374675.1(HSF4):c.195T>A (p.His65Gln)	HSF4 (H65Q)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1507878	NM_001374675.1(HSF4):c.257T>C (p.Ile86Thr)	HSF4 (I86T)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 1471650	NM_001374675.1(HSF4):c.1162dup (p.Ser388fs)	HSF4 (S358fs +1 more)	Duplication (frameshift variant)	Cataract 5 multiple types	GUncertain significance
Select item 1433465	NM_001374675.1(HSF4):c.1030C>T (p.Pro344Ser)	HSF4 (P314S +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 1361319	NM_001374675.1(HSF4):c.1196G>A (p.Gly399Asp)	HSF4 (G399D +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 1333484	NM_001374675.1(HSF4):c.392G>A (p.Trp131Ter)	HSF4 (W131*)	Single nucleotide variant (nonsense)	Cataract 5 multiple types	GPathogenic
Select item 1305826	NM_001374675.1(HSF4):c.558C>G (p.Gly186=)	HSF4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1299782	NM_001374675.1(HSF4):c.1477T>G (p.Ter493Glu)	HSF4	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1271790	NM_001374675.1(HSF4):c.124-66C>G	HSF4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236484	NC_000016.10:g.67169944dup	HSF4	Duplication	not provided	GBenign
Select item 1214672	NM_001374675.1(HSF4):c.730-117G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211410	NM_001374675.1(HSF4):c.1325-96T>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204696	NM_001374675.1(HSF4):c.1082+296G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1166869	NM_001374675.1(HSF4):c.1341C>G (p.Leu447=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 1143016	NM_001374675.1(HSF4):c.330C>G (p.Arg110=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GLikely benign
Select item 1124346	NM_001374675.1(HSF4):c.1324+8T>A	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GLikely benign
Select item 1065585	NM_001374675.1(HSF4):c.190A>G (p.Lys64Glu)	HSF4 (K64E)	Single nucleotide variant (missense variant)	Developmental cataract	GLikely pathogenic
Select item 1049444	NM_001374675.1(HSF4):c.910G>A (p.Glu304Lys)	HSF4 (E304K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1016998	NM_001374675.1(HSF4):c.250G>C (p.Val84Leu)	HSF4 (V84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1012401	NM_001374675.1(HSF4):c.293A>T (p.His98Leu)	HSF4 (H98L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 943687	NM_001374675.1(HSF4):c.199A>G (p.Asn67Asp)	HSF4 (N67D)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 930224	NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala)	HSF4 (T408A +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 887803	NM_001538.3(HSF4):c.*159T>C	HSF4	Single nucleotide variant	Cataract 5 multiple types	GUncertain significance
Select item 887802	NM_001374675.1(HSF4):c.*148T>G	HSF4	Single nucleotide variant (3 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 887737	NM_001374675.1(HSF4):c.104A>G (p.His35Arg)	HSF4 (H35R)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 887736	NM_001374675.1(HSF4):c.63C>A (p.Leu21=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 887735	NM_001538.4(HSF4):c.-125C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GBenign
Select item 886552	NM_001374675.1(HSF4):c.*8C>T	HSF4	Single nucleotide variant (3 prime UTR variant)	Cataract 5 multiple types	GBenign
Select item 886551	NM_001374675.1(HSF4):c.1475C>A (p.Pro492His)	HSF4 (P492H +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 886550	NM_001374675.1(HSF4):c.1315C>T (p.Pro439Ser)	HSF4 (P409S +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 886484	NM_001538.4(HSF4):c.-198C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 886483	NM_001538.4(HSF4):c.-244A>C	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 886482	NM_001538.4(HSF4):c.-419C>T	HSF4, FBXL8	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GLikely benign
Select item 885527	NM_001374675.1(HSF4):c.991G>A (p.Ala331Thr)	HSF4 (A331T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 885526	NM_001374675.1(HSF4):c.854+5G>A	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GLikely benign

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