ClinVar for MedGen (Select 78608) - 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 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 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 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 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 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 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 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 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	LOC125177334, HSF4	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	FBXL8, HSF4	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
Select item 885525	NM_001374675.1(HSF4):c.680C>A (p.Thr227Asn)	HSF4 (T227N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 885462	NM_001538.3(HSF4):c.-772G>T	FBXL8, HSF4 (A295S)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 885461	NM_001538.3(HSF4):c.-833C>T	FBXL8, HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GUncertain significance
Select item 885460	NM_001538.3(HSF4):c.-874G>C	HSF4, FBXL8 (A261P)	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 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 884592	NM_001374675.1(HSF4):c.347G>A (p.Arg116His)	HSF4 (R116H)	Single nucleotide variant (missense 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 704406	NM_001374675.1(HSF4):c.81G>A (p.Leu27=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GLikely benign
Select item 702238	NM_001374675.1(HSF4):c.1414A>G (p.Ile472Val)	HSF4 (I472V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 631757	NM_001374675.1(HSF4):c.1325-1G>T	HSF4, LOC130059183	Single nucleotide variant (splice acceptor variant)	Cataract 5 multiple types	GUncertain significance
Select item 585089	NM_001374675.1(HSF4):c.925C>G (p.Leu309Val)	HSF4 (L309V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
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 580870	NM_001374675.1(HSF4):c.232+4A>G	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	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 567423	NM_001374675.1(HSF4):c.965dup (p.Pro323fs)	HSF4 (P323fs +1 more)	Duplication (frameshift variant)	Cataract 5 multiple types	GPathogenic
Select item 522680	NM_001374675.1(HSF4):c.426_443dup (p.Ala145_Gln150dup)	HSF4	Duplication (inframe_insertion)	HSF4-related disorder +2 more	GConflicting classifications of pathogenicity
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 459609	NM_001374675.1(HSF4):c.89del (p.Asp30fs)	HSF4 (D30fs)	Deletion (frameshift variant)	Cataract 5 multiple types	GPathogenic
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 459607	NM_001374675.1(HSF4):c.1255-2A>G	HSF4	Single nucleotide variant (splice acceptor variant)	Cataract 5 multiple types	GLikely pathogenic
Select item 320193	NM_001374675.1(HSF4):c.*89G>T	HSF4	Single nucleotide variant (3 prime UTR variant)	Cataract 5 multiple types +1 more	GBenign/Likely benign
Select item 320191	NM_001374675.1(HSF4):c.1476C>A (p.Pro492=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GBenign/Likely benign
Select item 320190	NM_001374675.1(HSF4):c.1395C>A (p.Gly465=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types	GBenign
Select item 320189	NM_001374675.1(HSF4):c.1137G>A (p.Pro379=)	HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types +1 more	GLikely benign
Select item 320188	NM_001374675.1(HSF4):c.1127T>C (p.Leu376Pro)	HSF4 (L346P +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 320187	NM_001374675.1(HSF4):c.1075C>A (p.Pro359Thr)	HSF4 (P329T +1 more)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 320186	NM_001374675.1(HSF4):c.741G>A (p.Glu247=)	HSF4 (R252K)	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 320185	NM_001374675.1(HSF4):c.636G>T (p.Met212Ile)	HSF4 (M212I)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 320184	NM_001374675.1(HSF4):c.627-11C>T	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types	GBenign/Likely benign
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 320182	NM_001374675.1(HSF4):c.561+4T>G	HSF4	Single nucleotide variant (intron variant)	Cataract 5 multiple types +1 more	GBenign/Likely 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 320180	NM_001374675.1(HSF4):c.394C>T (p.Arg132Cys)	HSF4 (R132C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types +1 more	GConflicting classifications of pathogenicity
Select item 320179	NM_001374675.1(HSF4):c.259G>A (p.Glu87Lys)	HSF4 (E87K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 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 320176	NM_001374675.1(HSF4):c.-23C>T	LOC125177334, HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GBenign
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 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 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 320172	NM_001538.4(HSF4):c.-223C>T	HSF4, LOC125177334	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types +1 more	GBenign
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 320170	NM_001538.4(HSF4):c.-354C>A	HSF4	Single nucleotide variant (5 prime UTR variant)	Cataract 5 multiple types	GUncertain significance
Select item 320169	NM_001538.4(HSF4):c.-448A>G	FBXL8, HSF4	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GUncertain significance
Select item 320168	NM_001538.4(HSF4):c.-565G>A	FBXL8, HSF4 (E364K)	Single nucleotide variant (5 prime UTR variant +1 more)	Cataract 5 multiple types	GBenign
Select item 320167	NM_001538.3(HSF4):c.-622G>C	FBXL8, HSF4 (D345H)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GBenign
Select item 320166	NM_001538.3(HSF4):c.-759A>G	FBXL8, HSF4 (Y299C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GUncertain significance
Select item 320165	NM_001538.3(HSF4):c.-832G>A	FBXL8, HSF4 (V275I)	Single nucleotide variant (missense variant)	Cataract 5 multiple types +1 more	GBenign
Select item 320163	NM_001538.3(HSF4):c.-880G>C	FBXL8, HSF4 (E259Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 320162	NM_001538.3(HSF4):c.-944G>A	FBXL8, HSF4	Single nucleotide variant (synonymous variant)	Cataract 5 multiple types +1 more	GBenign
Select item 258163	NM_001374675.1(HSF4):c.123+9C>T	HSF4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
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 7094	NM_001374675.1(HSF4):c.56C>A (p.Ala19Asp)	HSF4 (A19D)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GPathogenic
Select item 7093	NM_001374675.1(HSF4):c.355C>T (p.Arg119Cys)	HSF4 (R119C)	Single nucleotide variant (missense variant)	Cataract 5 multiple types	GPathogenic

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