HSF2BP[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 137

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 155309	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46677460)x3	LOC126653353, LOC126653354 +1160 more	Copy number gain	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 153438	GRCh38/hg38 21q21.3-22.3(chr21:7749532-46677460)x3	LOC130066804, LOC130066805 +1160 more	Copy number gain	See cases	GUncertain significance
Select item 152839	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46698247)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 151388	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46670346)x3	SCAF4, SETD4 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149418	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC126653353, LOC126653354 +1159 more	Copy number gain	See cases	GPathogenic
Select item 149160	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	LOC129388418, LOC129391214 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148262	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1160 more	Copy number gain	See cases	GPathogenic
Select item 148180	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46671060)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 146125	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46660999)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145984	GRCh38/hg38 21q22.11-22.3(chr21:7749532-46670346)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145474	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LINC00515, LINC00649 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145468	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46664250)x3	LOC130066731, LOC130066732 +1159 more	Copy number gain	See cases	GPathogenic
Select item 145332	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653084)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 145107	GRCh38/hg38 21q11.2-22.3(chr21:7749532-46649831)x3	ETS2-AS1, EVA1C +1157 more	Copy number gain	See cases	GPathogenic
Select item 144677	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670440)x3	LOC130066726, LOC130066727 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59247	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	AATBC, ABCG1 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59246	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	SLC5A3, SLX9 +1159 more	Copy number gain	See cases	GPathogenic
Select item 59245	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46661140)x3	LINC01425, LINC01426 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59224	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066861, LOC130066862 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59223	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	LOC130066468, LOC130066469 +1155 more	Copy number gain	See cases	GPathogenic
Select item 59222	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46653090)x3	AATBC, ABCG1 +1157 more	Copy number gain	See cases	GPathogenic
Select item 59221	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46623792)x3	AATBC, ABCG1 +1155 more	Copy number gain	See cases	GPathogenic
Select item 32099	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-46670405)x3	LOC112694754, LOC114004360 +1159 more	Copy number gain	See cases	GPathogenic
Select item 154360	GRCh38/hg38 21p11.2-q22.3(chr21:7817158-46670440)x1	LOC130066795, LOC130066796 +1156 more	Copy number loss	See cases	GPathogenic
Select item 147667	GRCh38/hg38 21q22.12-22.3(chr21:34789953-46636538)x1	LINC01424, LINC01436 +643 more	Copy number loss	See cases	GPathogenic
Select item 149106	GRCh38/hg38 21q22.12-22.3(chr21:36066991-46671060)x3	AATBC, ABCG1 +598 more	Copy number gain	See cases	GPathogenic
Select item 145644	GRCh38/hg38 21q22.12-22.3(chr21:36206067-46670405)x3	LOC130066759, LOC130066760 +586 more	Copy number gain	See cases	GPathogenic
Select item 146921	GRCh38/hg38 21q22.13-22.3(chr21:36519173-46670405)x3	AATBC, ABCG1 +568 more	Copy number gain	See cases	GPathogenic
Select item 149036	GRCh38/hg38 21q22.13-22.3(chr21:37669628-46671060)x1	AATBC, ABCG1 +516 more	Copy number loss	See cases	GPathogenic
Select item 154214	GRCh38/hg38 21q22.2-22.3(chr21:38816399-46677460)x1	AATBC, ABCG1 +482 more	Copy number loss	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
Select item 150275	GRCh38/hg38 21q22.2-22.3(chr21:40296025-46670440)x1	AATBC, ABCG1 +429 more	Copy number loss	See cases	GPathogenic
Select item 57337	GRCh38/hg38 21q22.3(chr21:41285201-46670405)x1	BNAT1, C21orf58 +416 more	Copy number loss	See cases	GPathogenic
Select item 148266	GRCh38/hg38 21q22.3(chr21:41733640-46671060)x1	AATBC, ABCG1 +376 more	Copy number loss	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 57115	GRCh38/hg38 21q22.3(chr21:42232926-46670405)x1	LOC130066806, LOC130066807 +334 more	Copy number loss	See cases	GPathogenic
Select item 154533	GRCh38/hg38 21q22.3(chr21:42913213-46670405)x1	AATBC, ADARB1 +276 more	Copy number loss	See cases	GPathogenic
Select item 144193	GRCh38/hg38 21q22.3(chr21:43071168-46670405)x1	AATBC, ADARB1 +268 more	Copy number loss	See cases	GPathogenic
Select item 545245	Single allele	KRTAP10-12, KRTAP10-2 +245 more	Duplication	Autism	GLikely pathogenic
Select item 155502	GRCh38/hg38 21q22.3(chr21:43427322-43837467)x1	AATBC, CSTB +31 more	Copy number loss	See cases	GLikely benign
Select item 151387	GRCh38/hg38 21q22.3(chr21:43521150-43617511)x1	H2BC12L, HSF2BP +2 more	Copy number loss	See cases	GLikely benign
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 2570089	NM_007031.2(HSF2BP):c.911G>A (p.Arg304His)	HSF2BP (R304H)	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 2403505	NM_007031.2(HSF2BP):c.856C>A (p.Pro286Thr)	HSF2BP (P286T)	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 3025352	NM_007031.2(HSF2BP):c.741G>A (p.Leu247=)	HSF2BP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3027050	NM_007031.2(HSF2BP):c.634_645del (p.Asp212_Leu215del)	HSF2BP	Deletion (inframe_deletion)	not provided	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 2380115	NM_007031.2(HSF2BP):c.609G>C (p.Leu203Phe)	HSF2BP (L203F)	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 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 3107214	NM_007031.2(HSF2BP):c.517C>A (p.Gln173Lys)	HSF2BP (Q173K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2298410	NM_007031.2(HSF2BP):c.472G>A (p.Gly158Ser)	HSF2BP (G158S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2230228	NM_007031.2(HSF2BP):c.444T>A (p.Asp148Glu)	HSF2BP (D148E)	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 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 3107212	NM_007031.2(HSF2BP):c.326C>T (p.Ala109Val)	HSF2BP (A109V)	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 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 59033	GRCh38/hg38 21q22.3(chr21:43651490-43783031)x3	CSTB, HSF2BP +14 more	Copy number gain	See cases	GUncertain significance
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 2492366	NM_007031.2(HSF2BP):c.7G>A (p.Glu3Lys)	HSF2BP (E3K)	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 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 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 2422361	NC_000021.8:g.(?_43160998)_(47754702_?)del	ABCG1, ADARB1 +74 more	Deletion	Progressive myoclonic epilepsy +1 more	GConflicting classifications of pathogenicity
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

<< First< Prev

Page of 2