HSPA12B[gene] - ClinVar

Search results

Items: 99

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150785	GRCh38/hg38 20p13-12.3(chr20:80093-6386012)x3	LOC130065401, LOC130065402 +348 more	Copy number gain	See cases	GPathogenic
Select item 149704	GRCh38/hg38 20p13-12.1(chr20:80106-13029401)x3	LOC130065344, LOC130065345 +455 more	Copy number gain	See cases	GPathogenic
Select item 144514	GRCh38/hg38 20p13-q11.1(chr20:80106-30227427)x3	ABHD12, ACSS1 +833 more	Copy number gain	See cases	GPathogenic
Select item 154176	GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3	LOC112694699, LOC112694712 +306 more	Copy number gain	See cases	GUncertain significance
Select item 153731	GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3	ABHD12, ACSS1 +828 more	Copy number gain	See cases	GPathogenic
Select item 155359	GRCh38/hg38 20p13-11.23(chr20:80928-18688031)x3	SPEF1, SPTLC3 +571 more	Copy number gain	See cases	GPathogenic
Select item 152841	GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3	LOC114004355, LOC116286198 +347 more	Copy number gain	See cases	GPathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 59191	GRCh38/hg38 20p13-11.23(chr20:89939-19071495)x3	LOC105372493, LOC105372524 +579 more	Copy number gain	See cases	GPathogenic
Select item 57514	GRCh38/hg38 20p13-11.21(chr20:89939-25697564)x3	LOC126863004, LOC126863005 +814 more	Copy number gain	See cases	GPathogenic
Select item 57354	GRCh38/hg38 20p13-11.23(chr20:89939-19146279)x3	ADAM33, ADISSP +581 more	Copy number gain	See cases	GPathogenic
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 154850	GRCh38/hg38 20p13-12.3(chr20:1269303-8626911)x3	LOC130065322, LOC130065323 +300 more	Copy number gain	See cases	GPathogenic
Select item 59194	GRCh38/hg38 20p13(chr20:3059231-4187716)x3	ADAM33, ADISSP +76 more	Copy number gain	See cases	GPathogenic
Select item 154523	GRCh38/hg38 20p13(chr20:3177313-3849958)x1	ADAM33, ADISSP +45 more	Copy number loss	See cases	GUncertain significance
Select item 145587	GRCh38/hg38 20p13(chr20:3177313-3734506)x1	ADAM33, ATRN +24 more	Copy number loss	See cases	GUncertain significance
Select item 146301	GRCh38/hg38 20p13(chr20:3510905-3891967)x3	ADAM33, ADISSP +33 more	Copy number gain	See cases	GUncertain significance
Select item 2475717	NM_052970.5(HSPA12B):c.59G>A (p.Arg20Gln)	HSPA12B (R20Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267199	NM_052970.5(HSPA12B):c.62C>T (p.Ser21Phe)	HSPA12B (S21F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715749	NM_052970.5(HSPA12B):c.67G>C (p.Val23Leu)	HSPA12B (V23L)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2603386	NM_052970.5(HSPA12B):c.70C>G (p.Pro24Ala)	HSPA12B (P24A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379384	NM_052970.5(HSPA12B):c.89C>T (p.Pro30Leu)	HSPA12B (P30L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361796	NM_052970.5(HSPA12B):c.109G>A (p.Gly37Ser)	HSPA12B (G37S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288407	NM_052970.5(HSPA12B):c.116C>T (p.Ala39Val)	HSPA12B (A39V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107270	NM_052970.5(HSPA12B):c.127C>A (p.Pro43Thr)	HSPA12B (P43T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2507523	NM_052970.5(HSPA12B):c.152T>C (p.Val51Ala)	HSPA12B (V51A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2250540	NM_052970.5(HSPA12B):c.155G>A (p.Arg52Gln)	HSPA12B (R52Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107275	NM_052970.5(HSPA12B):c.173C>T (p.Ser58Phe)	HSPA12B (S58F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2521770	NM_052970.5(HSPA12B):c.277G>A (p.Gly93Ser)	HSPA12B (G7S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251443	NM_052970.5(HSPA12B):c.308C>T (p.Thr103Ile)	HSPA12B (T17I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107278	NM_052970.5(HSPA12B):c.310C>G (p.Pro104Ala)	HSPA12B (P104A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251444	NM_052970.5(HSPA12B):c.311C>T (p.Pro104Leu)	HSPA12B (P18L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781749	NM_052970.5(HSPA12B):c.351C>T (p.Ser117=)	HSPA12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2310971	NM_052970.5(HSPA12B):c.412C>T (p.Leu138Phe)	HSPA12B (L52F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107279	NM_052970.5(HSPA12B):c.425A>T (p.Lys142Met)	HSPA12B (K56M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602248	NM_052970.5(HSPA12B):c.581C>T (p.Ser194Leu)	HSPA12B (S193L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486037	NM_052970.5(HSPA12B):c.631T>C (p.Trp211Arg)	HSPA12B (W211R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369257	NM_052970.5(HSPA12B):c.640C>T (p.Pro214Ser)	HSPA12B (P128S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366155	NM_052970.5(HSPA12B):c.751C>T (p.Arg251Cys)	HSPA12B (R165C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378474	NM_052970.5(HSPA12B):c.761G>A (p.Arg254His)	HSPA12B (R253H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284923	NM_052970.5(HSPA12B):c.785G>A (p.Ser262Asn)	HSPA12B (S262N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531977	NM_052970.5(HSPA12B):c.884G>A (p.Arg295His)	HSPA12B (R294H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284921	NM_052970.5(HSPA12B):c.907G>A (p.Val303Ile)	HSPA12B (V303I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471208	NM_052970.5(HSPA12B):c.933A>T (p.Gln311His)	HSPA12B (Q225H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490675	NM_052970.5(HSPA12B):c.1081G>C (p.Glu361Gln)	HSPA12B (E275Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609175	NM_052970.5(HSPA12B):c.1108G>A (p.Glu370Lys)	HSPA12B (E284K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372001	NM_052970.5(HSPA12B):c.1187G>A (p.Arg396His)	HSPA12B (R310H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107269	NM_052970.5(HSPA12B):c.1214C>A (p.Ala405Glu)	HSPA12B (A319E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556942	NM_052970.5(HSPA12B):c.1265G>A (p.Arg422Gln)	HSPA12B (R421Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518464	NM_052970.5(HSPA12B):c.1294A>G (p.Arg432Gly)	HSPA12B (R346G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284924	NM_052970.5(HSPA12B):c.1307A>C (p.Asn436Thr)	HSPA12B (N350T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107271	NM_052970.5(HSPA12B):c.1334T>C (p.Met445Thr)	HSPA12B (M445T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325029	NM_052970.5(HSPA12B):c.1352A>G (p.Glu451Gly)	HSPA12B (E450G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381981	NM_052970.5(HSPA12B):c.1363G>A (p.Glu455Lys)	HSPA12B (E369K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608417	NM_052970.5(HSPA12B):c.1365G>C (p.Glu455Asp)	HSPA12B (E455D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2652188	NM_052970.5(HSPA12B):c.1380C>A (p.Thr460=)	HSPA12B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2241043	NM_052970.5(HSPA12B):c.1496T>G (p.Val499Gly)	HSPA12B (V413G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107272	NM_052970.5(HSPA12B):c.1543G>A (p.Asp515Asn)	HSPA12B (D514N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107273	NM_052970.5(HSPA12B):c.1546G>A (p.Val516Met)	HSPA12B (V430M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107274	NM_052970.5(HSPA12B):c.1729T>C (p.Phe577Leu)	HSPA12B (F576L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107276	NM_052970.5(HSPA12B):c.1855A>C (p.Ile619Leu)	HSPA12B (I618L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321225	NM_052970.5(HSPA12B):c.1870G>A (p.Val624Met)	HSPA12B (V538M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107277	NM_052970.5(HSPA12B):c.1898A>T (p.Glu633Val)	HSPA12B (E633V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225746	NM_052970.5(HSPA12B):c.1914C>A (p.Asp638Glu)	HSPA12B (D637E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2548882	NM_052970.5(HSPA12B):c.1958T>C (p.Ile653Thr)	HSPA12B (I567T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3284922	NM_052970.5(HSPA12B):c.1960C>T (p.Arg654Cys)	HSPA12B (R568C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570122	NM_052970.5(HSPA12B):c.1966G>A (p.Ala656Thr)	HSPA12B (A656T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3027012	NM_052970.5(HSPA12B):c.2000C>T (p.Thr667Ile)	HSPA12B (T581I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2521010	NM_052970.5(HSPA12B):c.2005G>A (p.Val669Ile)	HSPA12B (V583I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203978	NM_052970.5(HSPA12B):c.2021A>G (p.Asn674Ser)	HSPA12B (N673S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539257	NM_052970.5(HSPA12B):c.2035G>A (p.Ala679Thr)	HSPA12B (A593T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248364	NC_000020.10:g.(?_2361615)_(3903941_?)dup	ADAM33, ADISSP +36 more	Duplication	not provided	GUncertain significance
Select item 3248273	NC_000020.10:g.(?_3190198)_(6760201_?)del	ADAM33, ADISSP +35 more	Deletion	Inosine triphosphatase deficiency	GPathogenic
Select item 3062409	GRCh37/hg19 20p13(chr20:2640674-4323312)x3	OXT, PANK2 +33 more	Copy number gain	not specified	GUncertain significance
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	NKX2-4, NOP56 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	SIRPB2, SIRPD +114 more	Copy number gain	not provided	GPathogenic
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2446383	GRCh37/hg19 20p13-12.3(chr20:3034557-5524417)x1	MAVS, OXT +36 more	Copy number loss	See cases	GLikely pathogenic
Select item 2426797	NC_000020.10:g.(?_3063276)_(3903941_?)del	ADAM33, ADISSP +19 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 1706505	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	SPEF1, UBOX5 +26 more	Copy number gain	See cases	GUncertain significance
Select item 1703638	GRCh37/hg19 20p13-12.2(chr20:3178539-11848383)	ADAM33, ADRA1D +47 more	Copy number loss	20p12.3 microdeletion syndrome	GPathogenic
Select item 1054510	NC_000020.10:g.(?_3190178)_(3903961_?)dup	DNAAF9, GFRA4 +14 more	Duplication	Inosine triphosphatase deficiency	GUncertain significance
Select item 979728	GRCh37/hg19 20p13(chr20:3116478-4199486)x3	FASTKD5, CDC25B +20 more	Copy number gain	not provided	GUncertain significance
Select item 979727	GRCh37/hg19 20p13(chr20:3092739-4939933)x3	CDC25B, ADAM33 +25 more	Copy number gain	not provided	GUncertain significance
Select item 979576	GRCh37/hg19 20p13(chr20:2802218-4010802)x3	OXT, LZTS3 +26 more	Copy number gain	not provided	GUncertain significance
Select item 816106	GRCh37/hg19 20p13(chr20:2806498-4007381)x1	CDC25B, AVP +26 more	Copy number loss	not provided	GUncertain significance
Select item 816102	GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3	ABHD12, ACSS1 +177 more	Copy number gain	not provided	GPathogenic
Select item 686194	GRCh37/hg19 20p13(chr20:3654723-3796884)x3	ADAM33, C20orf27 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564645	GRCh37/hg19 20p13-12.1(chr20:3092739-17091453)x1	FERMT1, SPTLC3 +62 more	Copy number loss	not provided	GPathogenic
Select item 443885	GRCh37/hg19 20p13-12.3(chr20:2463101-8185680)x1	ADAM33, ADISSP +58 more	Copy number loss	See cases	GPathogenic
Select item 443774	GRCh37/hg19 20p13-12.2(chr20:61568-10486106)x3	ADAM33, ADISSP +104 more	Copy number gain	See cases	GLikely pathogenic
Select item 443340	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)x3	AAR2, ABHD12 +540 more	Copy number gain	See cases	GPathogenic
Select item 443339	GRCh37/hg19 20p13-q13.33(chr20:61569-62915555)	DZANK1, E2F1 +540 more	Copy number gain	See cases	GPathogenic
Select item 443254	GRCh37/hg19 20p13(chr20:2802218-4019837)x1	ADAM33, ADISSP +26 more	Copy number loss	See cases	GUncertain significance
Select item 443248	GRCh37/hg19 20p13-12.3(chr20:213423-5483406)x3	ADAM33, ADISSP +80 more	Copy number gain	See cases	GUncertain significance
Select item 424642	GRCh37/hg19 20p13-q11.21(chr20:80198-26208081)x3	CST1, NAPB +178 more	Copy number gain	not provided	GPathogenic
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253566	GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3	ADAM33, ADISSP +85 more	Copy number gain	See cases	GPathogenic

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Items: 99