HSF4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 59491	GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	ACD, AGRP +176 more	Copy number loss	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 more	Copy number loss	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 145310	GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	ATP6V0D1, B3GNT9 +113 more	Copy number loss	See cases	GPathogenic
Select item 59494	GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	ACD, AGRP +155 more	Copy number loss	See cases	GPathogenic
Select item 148293	GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	B3GNT9, CBFB +70 more	Copy number gain	See cases	GUncertain significance
Select item 154697	GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	B3GNT9, CBFB +65 more	Copy number gain	See cases	GUncertain significance
Select item 320162	NM_018378.3(FBXL8):c.711G>A (p.Leu237=)	HSF4, FBXL8	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GBenign
Select item 884526	NM_018378.3(FBXL8):c.720A>C (p.Glu240Asp)	FBXL8, HSF4 (E240D)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 320163	NM_018378.3(FBXL8):c.775G>C (p.Glu259Gln)	FBXL8, HSF4 (E259Q)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 885460	NM_018378.3(FBXL8):c.781G>C (p.Ala261Pro)	FBXL8, HSF4 (A261P)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 320164	NM_018378.3(FBXL8):c.807_808dup (p.Val270fs)	FBXL8, HSF4 (V270fs)	Microsatellite (frameshift variant)	Cataract	GLikely benign
Select item 885461	NM_018378.3(FBXL8):c.822C>T (p.Ala274=)	FBXL8, HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GUncertain significance
Select item 320165	NM_018378.3(FBXL8):c.823G>A (p.Val275Ile)	FBXL8, HSF4 (V275I)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 885462	NM_018378.3(FBXL8):c.883G>T (p.Ala295Ser)	FBXL8, HSF4 (A295S)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 320166	NM_018378.3(FBXL8):c.896A>G (p.Tyr299Cys)	FBXL8, HSF4 (Y299C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 320167	NM_018378.3(FBXL8):c.1033G>C (p.Asp345His)	FBXL8, HSF4 (D345H)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 320168	NM_018378.3(FBXL8):c.1090G>A (p.Glu364Lys)	FBXL8, HSF4 (E364K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GBenign
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 320169	NM_018378.3(FBXL8):c.*248A>G	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GUncertain significance
Select item 886482	NM_018378.3(FBXL8):c.*277C>T	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GLikely benign
Select item 320170	NM_001538.4(HSF4):c.-354C>A	HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320171	NM_001538.4(HSF4):c.-250C>T	HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types +1 more	GLikely benign
Select item 886483	NM_001538.4(HSF4):c.-244A>C	LOC125177334, HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320172	NM_001538.4(HSF4):c.-223C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GBenign
Select item 320173	NM_001538.4(HSF4):c.-211A>G	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
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 320174	NM_001538.4(HSF4):c.-191C>G	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320175	NM_001538.4(HSF4):c.-186C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
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 320176	NM_001374675.1(HSF4):c.-23C>T	LOC125177334, HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GBenign
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 459610	NM_001374675.1(HSF4):c.8A>G (p.Glu3Gly)	HSF4, LOC125177334 (E3G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320177	NM_001374675.1(HSF4):c.32A>G (p.Glu11Gly)	HSF4, LOC125177334 (E11G)	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 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 7094	NM_001374675.1(HSF4):c.56C>A (p.Ala19Asp)	HSF4 (A19D)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GPathogenic
Select item 887736	NM_001374675.1(HSF4):c.63C>A (p.Leu21=)	HSF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 704406	NM_001374675.1(HSF4):c.81G>A (p.Leu27=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GLikely benign
Select item 459609	NM_001374675.1(HSF4):c.89del (p.Asp30fs)	HSF4 (D30fs)	Deletion (frameshift variant)	Cataract 5 multiple types	GPathogenic
Select item 707254	NM_001374675.1(HSF4):c.90C>T (p.Asp30=)	HSF4	Single nucleotide variant (synonymous variant)	not provided	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 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 258163	NM_001374675.1(HSF4):c.123+9C>T	HSF4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1271790	NM_001374675.1(HSF4):c.124-66C>G	HSF4	Single nucleotide variant (intron variant)	not provided	GBenign
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 2592164	NM_001374675.1(HSF4):c.157C>T (p.Arg53Cys)	HSF4 (R53C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 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 320178	NM_001374675.1(HSF4):c.203T>C (p.Met68Thr)	HSF4 (M68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2259686	NM_001374675.1(HSF4):c.214G>A (p.Val72Met)	HSF4 (V72M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 580870	NM_001374675.1(HSF4):c.232+4A>G	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GUncertain significance
Select item 1016998	NM_001374675.1(HSF4):c.250G>C (p.Val84Leu)	HSF4 (V84L)	Single nucleotide variant (missense variant)	Cataract 5 multiple types +1 more	GUncertain significance
Select item 7095	NM_001374675.1(HSF4):c.256A>G (p.Ile86Val)	HSF4 (I86V)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	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 320179	NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys)	HSF4 (E87K)	Single nucleotide variant (missense variant)	Cataract 5 multiple types +1 more	GConflicting classifications of pathogenicity
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 2463079	NM_001374675.1(HSF4):c.319G>T (p.Val107Leu)	HSF4 (V107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 1143016	NM_001374675.1(HSF4):c.330C>G (p.Arg110=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GLikely benign
Select item 7092	NM_001374675.1(HSF4):c.341T>C (p.Leu114Pro)	HSF4 (L114P)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GPathogenic
Select item 884592	NM_001374675.1(HSF4):c.347G>A (p.Arg116His)	HSF4 (R116H)	Single nucleotide variant (missense variant)	HSF4-related disorder +1 more	GBenign/Likely benign
Select item 459608	NM_001374675.1(HSF4):c.350T>G (p.Val117Gly)	HSF4 (V117G)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 582457	NM_001374675.1(HSF4):c.352C>T (p.Arg118Trp)	HSF4 (R118W)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GLikely pathogenic
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 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 7093	NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)	HSF4 (R119C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GPathogenic
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 2021439	NM_001374675.1(HSF4):c.361-17G>A	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GLikely benign
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 2264611	NM_001374675.1(HSF4):c.384C>A (p.Asp128Glu)	HSF4 (D128E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 320180	NM_001374675.1(HSF4):c.394C>T (p.Arg132Cys)	HSF4 (R132C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GLikely benign
Select item 884593	NM_001374675.1(HSF4):c.401A>T (p.Glu134Val)	HSF4 (E134V)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	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 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 522680	NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup)	HSF4	Duplication (inframe_insertion)	Cataract 5 multiple types +1 more	GUncertain significance
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 567874	NM_001374675.1(HSF4):c.442G>A (p.Gly148Arg)	HSF4 (G148R)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 884594	NM_001374675.1(HSF4):c.510G>A (p.Glu170=)	HSF4	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 320181	NM_001374675.1(HSF4):c.523C>G (p.Arg175Gly)	HSF4 (R175G)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GLikely benign
Select item 1305826	NM_001374675.1(HSF4):c.558C>G (p.Gly186=)	HSF4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 320182	NM_001374675.1(HSF4):c.561+4T>G	HSF4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 2740101	NM_001374675.1(HSF4):c.561+16del	HSF4	Deletion (intron variant)	Cataract 5 multiple types	GLikely benign
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 1995440	NM_001374675.1(HSF4):c.568C>T (p.Gln190Ter)	HSF4 (Q190*)	Single nucleotide variant (nonsense)	Cataract 5 multiple types	GPathogenic
Select item 320183	NM_001374675.1(HSF4):c.594G>T (p.Ala198=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	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 1707390	NM_001374675.1(HSF4):c.627-71G>A	HSF4	Single nucleotide variant (intron variant)	not provided	GLikely benign

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