ClinVar for Gene (Select 11077) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3284890	NM_007031.2(HSF2BP):c.154G>C (p.Glu52Gln)	HSF2BP (E52Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284889	NM_007031.2(HSF2BP):c.29C>T (p.Ala10Val)	HSF2BP (A10V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284888	NM_007031.2(HSF2BP):c.440G>A (p.Gly147Glu)	HSF2BP (G147E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248150	NC_000021.8:g.(?_44473990)_(45629566_?)del	AGPAT3, CBS +11 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3107217	NM_007031.2(HSF2BP):c.943C>T (p.Arg315Cys)	HSF2BP (R315C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107216	NM_007031.2(HSF2BP):c.856C>G (p.Pro286Ala)	HSF2BP (P286A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107215	NM_007031.2(HSF2BP):c.599G>A (p.Arg200His)	HSF2BP (R200H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107214	NM_007031.2(HSF2BP):c.517C>A (p.Gln173Lys)	HSF2BP (Q173K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107213	NM_007031.2(HSF2BP):c.448G>T (p.Ala150Ser)	HSF2BP (A150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107212	NM_007031.2(HSF2BP):c.326C>T (p.Ala109Val)	HSF2BP (A109V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107211	NM_007031.2(HSF2BP):c.251G>A (p.Arg84His)	HSF2BP (R84H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107210	NM_007031.2(HSF2BP):c.191T>G (p.Leu64Arg)	HSF2BP (L64R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	GPathogenic
Select item 3027050	NM_007031.2(HSF2BP):c.634_645del (p.Asp212_Leu215del)	HSF2BP	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3025352	NM_007031.2(HSF2BP):c.741G>A (p.Leu247=)	HSF2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684921	GRCh37/hg19 21q22.3(chr21:44968648-45268475)x3	CSTB, HSF2BP +3 more	Copy number gain	not provided	GUncertain significance
Select item 2684920	GRCh37/hg19 21q22.3(chr21:44925905-45717716)x3	AGPAT3, AIRE +10 more	Copy number gain	not provided	GUncertain significance
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
Select item 2684910	GRCh37/hg19 21q11.2-22.3(chr21:15006458-45674637)x3	CLDN14, CLDN17 +170 more	Copy number gain	not provided	GPathogenic
Select item 2570089	NM_007031.2(HSF2BP):c.911G>A (p.Arg304His)	HSF2BP (R304H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498899	NM_007031.2(HSF2BP):c.261C>T (p.Thr87=)	HSF2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2492366	NM_007031.2(HSF2BP):c.7G>A (p.Glu3Lys)	HSF2BP (E3K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
Select item 2403505	NM_007031.2(HSF2BP):c.856C>A (p.Pro286Thr)	HSF2BP (P286T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380115	NM_007031.2(HSF2BP):c.609G>C (p.Leu203Phe)	HSF2BP (L203F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356287	NM_007031.2(HSF2BP):c.622C>T (p.Arg208Trp)	HSF2BP (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307887	NM_007031.2(HSF2BP):c.799C>G (p.Pro267Ala)	HSF2BP (P267A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298410	NM_007031.2(HSF2BP):c.472G>A (p.Gly158Ser)	HSF2BP (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230228	NM_007031.2(HSF2BP):c.444T>A (p.Asp148Glu)	HSF2BP (D148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807697	GRCh37/hg19 21q22.2-22.3(chr21:42046399-45109188)x1	ABCG1, BACE2 +28 more	Copy number loss	not provided	GPathogenic
Select item 1705932	GRCh37/hg19 21q11.2-22.3(chr21:14420615-48080926)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	Down syndrome	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1526723	GRCh37/hg19 21q22.3(chr21:45071606-45703897)	AGPAT3, CSTB +9 more	Copy number gain	not specified	GUncertain significance
Select item 1526722	GRCh37/hg19 21q22.3(chr21:44850469-45257348)	CSTB, HSF2BP +3 more	Copy number loss	not specified	GUncertain significance
Select item 1526720	GRCh37/hg19 21q22.2-22.3(chr21:42410406-48097372)	ABCG1, ADARB1 +83 more	Copy number loss	not specified	GPathogenic
Select item 1526706	GRCh37/hg19 21q11.2-22.3(chr21:15285841-48097372)	ADAMTS1, ADAMTS5 +216 more	Copy number gain	not specified	GPathogenic
Select item 1526705	GRCh37/hg19 21q11.2-22.3(chr21:15041209-48097372)	KCNJ15, N6AMT1 +216 more	Copy number gain	not specified	GPathogenic
Select item 1458311	NC_000021.8:g.(?_43160998)_(47865240_?)del	ABCG1, ADARB1 +74 more	Deletion	HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED	GPathogenic
Select item 1447702	NC_000021.8:g.(?_44473990)_(47865240_?)dup	ADARB1, AGPAT3 +57 more	Duplication	not provided	GUncertain significance
Select item 1409580	NC_000021.8:g.(?_43160998)_(47865240_?)dup	KRTAP10-9, KRTAP12-1 +74 more	Duplication	Cataract 9 multiple types +2 more	GUncertain significance
Select item 1341200	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	not provided	GPathogenic
Select item 1321998	GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3	COL6A2, KRTAP20-3 +220 more	Copy number gain	See cases	GPathogenic
Select item 1224547	NM_007031.2(HSF2BP):c.382T>C (p.Cys128Arg)	HSF2BP (C128R)	Single nucleotide variant (missense variant)	Premature ovarian failure 19	GLikely pathogenic
Select item 1224546	NM_007031.2(HSF2BP):c.557T>C (p.Leu186Pro)	HSF2BP (L186P)	Single nucleotide variant (missense variant)	Premature ovarian failure 19	GLikely pathogenic
Select item 1055976	NC_000021.8:g.(?_44838130)_(45196150_?)dup	CSTB, HSF2BP +3 more	Duplication	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 1047933	NM_007031.2(HSF2BP):c.500C>T (p.Ser167Leu)	HSF2BP (S167L)	Single nucleotide variant (missense variant)	Premature ovarian failure 19	GUncertain significance
Select item 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 832239	NC_000021.8:g.(?_44838120)_(45629566_?)dup	AGPAT3, CSTB +8 more	Duplication	Progressive myoclonic epilepsy +1 more	GUncertain significance
Select item 830669	NC_000021.8:g.(?_43792871)_(46330697_?)dup	KRTAP10-2, KRTAP10-3 +47 more	Duplication	not provided	GUncertain significance
Select item 830406	NC_000021.8:g.(?_44838120)_(45629566_?)del	AGPAT3, CSTB +8 more	Deletion	Progressive myoclonic epilepsy	GPathogenic
Select item 830405	NC_000021.8:g.(?_44836602)_(45629566_?)del	AGPAT3, CSTB +8 more	Deletion	Developmental and epileptic encephalopathy, 30	GPathogenic
Select item 816508	GRCh37/hg19 21q22.2-22.3(chr21:42044877-48100155)x3	ABCG1, ADARB1 +84 more	Copy number gain	See cases	GPathogenic
Select item 816177	GRCh37/hg19 21q22.3(chr21:44847202-45265689)x1	RRP1B, RRP1 +3 more	Copy number loss	not provided	GLikely benign
Select item 816176	GRCh37/hg19 21q22.3(chr21:44736485-44968648)x3	HSF2BP, SIK1	Copy number gain	not provided	GUncertain significance
Select item 816175	GRCh37/hg19 21q22.3(chr21:44620109-44958565)x3	HSF2BP, SIK1	Copy number gain	not provided	GLikely benign
Select item 816173	GRCh37/hg19 21q22.3(chr21:43822539-44974001)x3	HSF2BP, SLC37A1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 816172	GRCh37/hg19 21q22.3(chr21:43472147-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	not provided	GPathogenic
Select item 816166	GRCh37/hg19 21q22.13-22.3(chr21:39410438-45171756)x1	CRYAA, GET1 +44 more	Copy number loss	not provided	GPathogenic
Select item 688553	GRCh37/hg19 21q22.3(chr21:44735958-45448138)x3	AGPAT3, CSTB +6 more	Copy number gain	not provided	GUncertain significance
Select item 688323	GRCh37/hg19 21q22.3(chr21:43756585-46240105)x1	AGPAT3, AIRE +47 more	Copy number loss	not provided	GPathogenic
Select item 688005	GRCh37/hg19 21q22.3(chr21:44577746-45120173)x3	CRYAA, HSF2BP +2 more	Copy number gain	not provided	GUncertain significance
Select item 686963	GRCh37/hg19 21q22.3(chr21:44310057-47503155)x1	ADARB1, AGPAT3 +51 more	Copy number loss	not provided	GPathogenic
Select item 686229	GRCh37/hg19 21q11.2-22.3(chr21:15006457-48097372)x3	ATP5PF, IL10RB +217 more	Copy number gain	not provided	GPathogenic
Select item 647965	NC_000021.8:g.(?_43892908)_(45629566_?)del	AGPAT3, CBS +17 more	Deletion	Primary ciliary dyskinesia	GPathogenic
Select item 635900	Single allele	ADARB1, AGPAT3 +43 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 626294	Single allele	ABCG1, ADARB1 +77 more	Duplication	not provided	GLikely pathogenic
Select item 625618	GRCh37/hg19 21q22.2-22.3(chr21:41537095-46914745)	ABCG1, ADARB1 +70 more	Copy number loss	not provided	GPathogenic
Select item 564676	GRCh37/hg19 21q22.2-22.3(chr21:42335622-48097372)x1	ABCG1, ADARB1 +83 more	Copy number loss	not provided	GPathogenic
Select item 564674	GRCh37/hg19 21q22.3(chr21:43687353-48097372)x1	ABCG1, ADARB1 +72 more	Copy number loss	not provided	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 454509	NC_000021.8:g.(?_43892908)_(45629566_?)dup	AGPAT3, CBS +17 more	Duplication	Primary ciliary dyskinesia	GUncertain significance
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443781	GRCh37/hg19 21q22.3(chr21:44715783-46385971)x3	AGPAT3, AIRE +37 more	Copy number gain	See cases	GUncertain significance
Select item 443778	GRCh37/hg19 21q22.13-22.3(chr21:37914123-48097372)x1	ABCG1, ADARB1 +108 more	Copy number loss	See cases	GPathogenic
Select item 443167	GRCh37/hg19 21q22.3(chr21:43498966-48097372)x1	ABCG1, ADARB1 +73 more	Copy number loss	See cases	GPathogenic
Select item 443072	GRCh37/hg19 21q22.2-22.3(chr21:41254101-48097372)x1	ABCG1, ADARB1 +85 more	Copy number loss	See cases	GPathogenic
Select item 443002	GRCh37/hg19 21q22.13-22.3(chr21:38699545-48097372)x1	ABCG1, ADARB1 +101 more	Copy number loss	See cases	GPathogenic
Select item 394758	GRCh37/hg19 21q22.3(chr21:44969301-45053804)x1	HSF2BP	Copy number loss	See cases	GLikely benign
Select item 394309	GRCh37/hg19 21q11.2-22.3(chr21:14771770-48080867)x3	EVA1C, FAM3B +217 more	Copy number gain	See cases	GPathogenic
Select item 253975	GRCh37/hg19 21q22.3(chr21:44264486-45945979)x1	RRP1B, LRRC3 +22 more	Copy number loss	See cases	GUncertain significance
Select item 253512	GRCh37/hg19 21q11.2-22.3(chr21:15538655-48080926)x1	ABCG1, ADAMTS1 +216 more	Copy number loss	See cases	GPathogenic
Select item 253403	GRCh37/hg19 21q11.2-22.3(chr21:15410701-48090317)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	See cases	GPathogenic
Select item 160886	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LCA5L, LINC00111 +1159 more	Copy number gain	See cases	GPathogenic
Select item 155502	GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1	AATBC, CSTB +31 more	Copy number loss	See cases	GLikely benign
Select item 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	See cases	GPathogenic
Select item 155268	GRCh38/hg38 21q22.3(chr21:42129699-46671060)x1	LOC130066735, LOC130066736 +340 more	Copy number loss	See cases	GPathogenic
Select item 155093	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)	KRTAP8-1, LCA5L +1160 more	Copy number gain	See cases	GPathogenic
Select item 155053	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	RNA5-8SN1, RNA5-8SN2 +1160 more	Copy number gain	See cases	GPathogenic
Select item 154583	GRCh38/hg38 21q22.2-22.3(chr21:39375937-44246148)x1	AATBC, ABCG1 +268 more	Copy number loss	See cases	GPathogenic

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