OCSTAMP[gene] - ClinVar

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

Search results

Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3203962	NM_080721.3(OCSTAMP):c.1602T>A (p.His534Gln)	OCSTAMP (H534Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303277	NM_080721.3(OCSTAMP):c.1469G>A (p.Arg490Lys)	OCSTAMP (R490K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342629	NM_080721.3(OCSTAMP):c.1447G>A (p.Asp483Asn)	OCSTAMP (D483N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203961	NM_080721.3(OCSTAMP):c.1436C>T (p.Pro479Leu)	OCSTAMP (P479L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203960	NM_080721.3(OCSTAMP):c.1423G>T (p.Ala475Ser)	OCSTAMP (A475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302139	NM_080721.3(OCSTAMP):c.1370A>G (p.Gln457Arg)	OCSTAMP (Q457R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2464175	NM_080721.3(OCSTAMP):c.1286T>C (p.Ile429Thr)	OCSTAMP (I429T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350799	NM_080721.3(OCSTAMP):c.1277G>C (p.Arg426Pro)	OCSTAMP (R426P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456786	NM_080721.3(OCSTAMP):c.1204C>T (p.Pro402Ser)	OCSTAMP (P402S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334943	NM_080721.3(OCSTAMP):c.1184G>T (p.Arg395Leu)	OCSTAMP (R395L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203959	NM_080721.3(OCSTAMP):c.1168C>T (p.Pro390Ser)	OCSTAMP (P390S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350166	NM_080721.3(OCSTAMP):c.1147C>T (p.Arg383Cys)	OCSTAMP (R383C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302138	NM_080721.3(OCSTAMP):c.1106G>A (p.Ser369Asn)	OCSTAMP (S369N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203958	NM_080721.3(OCSTAMP):c.1094T>C (p.Leu365Pro)	OCSTAMP (L365P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2623990	NM_080721.3(OCSTAMP):c.967G>C (p.Ala323Pro)	OCSTAMP (A323P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203971	NM_080721.3(OCSTAMP):c.965T>G (p.Val322Gly)	OCSTAMP (V322G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203970	NM_080721.3(OCSTAMP):c.955A>G (p.Thr319Ala)	OCSTAMP (T319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302137	NM_080721.3(OCSTAMP):c.938C>T (p.Thr313Met)	OCSTAMP (T313M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213612	NM_080721.3(OCSTAMP):c.938C>A (p.Thr313Lys)	OCSTAMP (T313K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302141	NM_080721.3(OCSTAMP):c.934G>A (p.Ala312Thr)	OCSTAMP (A312T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203969	NM_080721.3(OCSTAMP):c.931G>A (p.Val311Met)	OCSTAMP (V311M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388152	NM_080721.3(OCSTAMP):c.848T>A (p.Leu283Gln)	OCSTAMP (L283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388151	NM_080721.3(OCSTAMP):c.841A>G (p.Thr281Ala)	OCSTAMP (T281A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2232818	NM_080721.3(OCSTAMP):c.839C>A (p.Pro280His)	OCSTAMP (P280H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203968	NM_080721.3(OCSTAMP):c.803C>T (p.Ala268Val)	OCSTAMP (A268V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203967	NM_080721.3(OCSTAMP):c.796C>T (p.Arg266Trp)	OCSTAMP (R266W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365186	NM_080721.3(OCSTAMP):c.775G>A (p.Ala259Thr)	OCSTAMP (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346748	NM_080721.3(OCSTAMP):c.755T>C (p.Leu252Pro)	OCSTAMP (L252P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302142	NM_080721.3(OCSTAMP):c.665C>T (p.Ala222Val)	OCSTAMP (A222V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2604187	NM_080721.3(OCSTAMP):c.635C>G (p.Ser212Cys)	OCSTAMP (S212C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203965	NM_080721.3(OCSTAMP):c.633C>A (p.Phe211Leu)	OCSTAMP (F211L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328576	NM_080721.3(OCSTAMP):c.601C>T (p.Leu201Phe)	OCSTAMP (L201F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389013	NM_080721.3(OCSTAMP):c.551G>A (p.Gly184Asp)	OCSTAMP (G184D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539184	NM_080721.3(OCSTAMP):c.449G>A (p.Arg150Lys)	OCSTAMP (R150K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335207	NM_080721.3(OCSTAMP):c.433G>A (p.Ala145Thr)	OCSTAMP (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589852	NM_080721.3(OCSTAMP):c.431C>T (p.Ala144Val)	OCSTAMP (A144V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239299	NM_080721.3(OCSTAMP):c.392C>A (p.Ala131Asp)	OCSTAMP (A131D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239298	NM_080721.3(OCSTAMP):c.391G>A (p.Ala131Thr)	OCSTAMP (A131T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593080	NM_080721.3(OCSTAMP):c.359G>A (p.Arg120Gln)	OCSTAMP (R120Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253765	NM_080721.3(OCSTAMP):c.348G>T (p.Glu116Asp)	OCSTAMP (E116D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203963	NM_080721.3(OCSTAMP):c.328G>A (p.Val110Met)	OCSTAMP (V110M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388353	NM_080721.3(OCSTAMP):c.307C>T (p.Arg103Cys)	OCSTAMP (R103C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380023	NM_080721.3(OCSTAMP):c.176C>T (p.Ala59Val)	OCSTAMP (A59V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545265	NM_080721.3(OCSTAMP):c.170C>T (p.Ser57Phe)	OCSTAMP (S57F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3302140	NM_080721.3(OCSTAMP):c.152A>C (p.Gln51Pro)	OCSTAMP (Q51P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477457	NM_080721.3(OCSTAMP):c.119C>T (p.Pro40Leu)	OCSTAMP (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526779	NM_080721.3(OCSTAMP):c.106G>A (p.Ala36Thr)	OCSTAMP (A36T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510346	NM_080721.3(OCSTAMP):c.105C>A (p.Asp35Glu)	OCSTAMP (D35E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3203964	NM_080721.3(OCSTAMP):c.4C>T (p.Pro2Ser)	OCSTAMP (P2S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3248346	NC_000020.10:g.(?_44577592)_(45362473_?)del	CD40, CDH22 +12 more	Deletion	not provided	GPathogenic
Select item 3248279	NC_000020.10:g.(?_42223339)_(45362473_?)del	ACOT8, ADA +72 more	Deletion	Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency	GPathogenic
Select item 1330181	GRCh37/hg19 20q13.12-13.13(chr20:42985044-48599046)x1	PREX1, PTGIS +79 more	Copy number loss	Developmental and epileptic encephalopathy, 26	GPathogenic
Select item 813269	Single allele	ACOT8, ACTR5 +124 more	Deletion	Focal-onset seizure	GLikely pathogenic
Select item 687504	GRCh37/hg19 20q13.12(chr20:45002981-45243034)x3	ELMO2, OCSTAMP +3 more	Copy number gain	not provided	GUncertain significance
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)	AAR2, ABHD12 +540 more	Copy number gain	See cases	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: 59