HSPA13[gene] - ClinVar

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

Search results

Items: 97

	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 149035	GRCh38/hg38 21p11.2-q22.13(chr21:7749532-37653653)x1	KCNJ6, KCNJ6-AS1 +643 more	Copy number loss	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 144194	GRCh38/hg38 21p11.2-q22.3(chr21:7749532-42971047)x3	LOC128849172, LOC129388418 +884 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 236548	GRCh38/hg38 21p11.2-q21.3(chr21:13048294-27532614)	LOC125418053, LOC125418054 +219 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59220	GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3	ASMER1, BTG3 +118 more	Copy number gain	See cases	GPathogenic
Select item 59004	GRCh38/hg38 21q11.2-21.3(chr21:13194345-29257208)x1	ADAMTS1, ADAMTS5 +256 more	Copy number loss	See cases	GPathogenic
Select item 153628	GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1	ASMER1, BTG3 +107 more	Copy number loss	See cases	GPathogenic
Select item 155682	GRCh38/hg38 21q11.2-21.3(chr21:13634137-27862841)x1	ADAMTS1, ADAMTS5 +214 more	Copy number loss	See cases	GPathogenic
Select item 59225	GRCh38/hg38 21q11.2-21.1(chr21:13696993-21440046)x3	ASMER1, BTG3 +129 more	Copy number gain	See cases	GPathogenic
Select item 236549	GRCh38/hg38 21q11.2-21.3(chr21:14000146-27785985)	HSPA13, JAM2 +209 more	Copy number loss	Monosomy 21	GPathogenic
Select item 59005	GRCh38/hg38 21q11.2-22.11(chr21:14000720-30903065)x1	ADAMTS1, ADAMTS5 +300 more	Copy number loss	See cases	GPathogenic
Select item 59006	GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1	ASMER1, BTG3 +101 more	Copy number loss	See cases	GPathogenic
Select item 149825	GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1	ASMER1, BTG3 +121 more	Copy number loss	See cases	GPathogenic
Select item 59244	GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3	ASMER1, HSPA13 +69 more	Copy number gain	See cases	GPathogenic
Select item 59007	GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1	LOC130066455, LOC130066456 +102 more	Copy number loss	See cases	GPathogenic
Select item 2538423	NM_006948.5(HSPA13):c.1342G>A (p.Gly448Arg)	HSPA13 (G448R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107281	NM_006948.5(HSPA13):c.1286C>A (p.Ser429Tyr)	HSPA13 (S429Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350355	NM_006948.5(HSPA13):c.1129C>T (p.Leu377Phe)	HSPA13 (L377F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608108	NM_006948.5(HSPA13):c.1102A>C (p.Lys368Gln)	HSPA13 (K368Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403739	NM_006948.5(HSPA13):c.1040G>A (p.Arg347His)	HSPA13 (R347H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2372453	NM_006948.5(HSPA13):c.1039C>T (p.Arg347Cys)	HSPA13 (R347C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403563	NM_006948.5(HSPA13):c.1037G>A (p.Gly346Glu)	HSPA13 (G346E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356744	NM_006948.5(HSPA13):c.992A>T (p.Asp331Val)	HSPA13 (D331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107283	NM_006948.5(HSPA13):c.913G>C (p.Ala305Pro)	HSPA13 (A305P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107282	NM_006948.5(HSPA13):c.913G>A (p.Ala305Thr)	HSPA13 (A305T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313192	NM_006948.5(HSPA13):c.685G>A (p.Gly229Arg)	HSPA13 (G229R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485929	NM_006948.5(HSPA13):c.459G>C (p.Leu153Phe)	HSPA13 (L153F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268797	NM_006948.5(HSPA13):c.449G>A (p.Arg150Gln)	HSPA13 (R150Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513999	NM_006948.5(HSPA13):c.422C>T (p.Thr141Ile)	HSPA13 (T141I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390893	NM_006948.5(HSPA13):c.353G>A (p.Arg118Lys)	HSPA13 (R118K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300388	NM_006948.5(HSPA13):c.325G>A (p.Ala109Thr)	HSPA13 (A109T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357708	NM_006948.5(HSPA13):c.254T>C (p.Val85Ala)	HSPA13 (V85A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381383	NM_006948.5(HSPA13):c.253G>A (p.Val85Ile)	HSPA13 (V85I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467853	NM_006948.5(HSPA13):c.251G>A (p.Ser84Asn)	HSPA13 (S84N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512152	NM_006948.5(HSPA13):c.220A>T (p.Thr74Ser)	HSPA13 (T74S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484756	NM_006948.5(HSPA13):c.175C>G (p.Pro59Ala)	HSPA13 (P59A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107280	NM_006948.5(HSPA13):c.10G>C (p.Glu4Gln)	HSPA13, LOC130066433 (E4Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248182	NC_000021.8:g.(?_15481314)_(16364756_?)dup	HSPA13, LIPI +3 more	Duplication	not provided	GUncertain significance
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 3062434	GRCh37/hg19 21q11.2(chr21:15006458-16323835)x1	HSPA13, LIPI +3 more	Copy number loss	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 2685655	GRCh37/hg19 21q11.2-21.1(chr21:15006458-19950207)x1	BTG3, C21orf91 +13 more	Copy number loss	not provided	GUncertain significance
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 2424688	NC_000021.8:g.(?_15554059)_(16340513_?)dup	HSPA13, LIPI +3 more	Duplication	not provided	GUncertain significance
Select item 1808519	GRCh37/hg19 21q11.2-21.1(chr21:15023402-17685941)x4	HSPA13, LIPI +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808396	GRCh37/hg19 21q11.2-21.1(chr21:15006458-21778529)x1	MIRLET7C, NRIP1 +13 more	Copy number loss	not provided	GUncertain significance
Select item 1708465	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29046428)x3	ADAMTS1, MIR125B2 +23 more	Copy number gain	See cases	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 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 1526703	GRCh37/hg19 21q11.2-21.3(chr21:15006457-28820583)	MRPL39, NCAM2 +23 more	Copy number gain	not specified	GPathogenic
Select item 1526702	GRCh37/hg19 21q11.2-21.3(chr21:15006457-27430623)	APP, ATP5PF +20 more	Copy number gain	not specified	GPathogenic
Select item 1526701	GRCh37/hg19 21q11.2-21.2(chr21:15006457-26760450)	BTG3, C21orf91 +14 more	Copy number gain	not specified	GPathogenic
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 983157	GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 816143	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29325923)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	not provided	GPathogenic
Select item 816142	GRCh37/hg19 21q11.2-21.2(chr21:15006457-24522577)x1	BTG3, C21orf91 +14 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 635905	Single allele	ADAMTS1, ADAMTS5 +23 more	Duplication	Neurodevelopmental disorder	GLikely pathogenic
Select item 625662	GRCh37/hg19 21p11.1-q21.2(chr21:10944001-25730963)	HSPA13, SAMSN1 +17 more	Copy number gain	not provided	GPathogenic
Select item 564678	GRCh37/hg19 21q11.2-21.2(chr21:15006457-25292671)x1	BTG3, C21orf91 +14 more	Copy number loss	not provided	GPathogenic
Select item 443979	GRCh37/hg19 21q11.2-22.3(chr21:15006458-48097372)	ABCG1, ADAMTS1 +217 more	Copy number gain	See cases	GPathogenic
Select item 443271	GRCh37/hg19 21q11.2(chr21:15006458-16345684)	HSPA13, LIPI +4 more	Copy number gain	See cases	GUncertain significance
Select item 442418	GRCh37/hg19 21q11.2-21.3(chr21:15006457-29225300)x1	ADAMTS1, ADAMTS5 +23 more	Copy number loss	See cases	GPathogenic
Select item 441969	GRCh37/hg19 21q11.2-21.1(chr21:15006861-23651121)x3	BTG3, C21orf91 +14 more	Copy number gain	See cases	GUncertain significance
Select item 395680	GRCh37/hg19 21q11.2-21.1(chr21:15442582-20723130)	CXADR, HSPA13 +12 more	Copy number gain	See cases	GPathogenic
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 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 127268	NC_000021.7:g.13636378_28138533dup	SAMSN1, ADAMTS1 +23 more	Duplication	Alzheimer disease +1 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 97