"Ambry Genetics"[submitter] AND "ST18"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231790	NM_001352837.2(ST18):c.2984A>G (p.Asp995Gly)	ST18 (D642G +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611903	NM_001352837.2(ST18):c.2963C>T (p.Ala988Val)	ST18 (A635V +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2470726	NM_001352837.2(ST18):c.2896G>C (p.Glu966Gln)	ST18 (E620Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243960	NM_001352837.2(ST18):c.2663G>A (p.Arg888Gln)	ST18 (R853Q +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2540303	NM_001352837.2(ST18):c.2632G>A (p.Gly878Ser)	ST18 (G849S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249562	NM_001352837.2(ST18):c.2519G>A (p.Cys840Tyr)	ST18 (C494Y +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602055	NM_001352837.2(ST18):c.2416A>G (p.Lys806Glu)	ST18 (K806E +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2369801	NM_001352837.2(ST18):c.2381G>A (p.Arg794His)	ST18 (R448H +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2544805	NM_001352837.2(ST18):c.2314G>A (p.Gly772Ser)	ST18 (G772S +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2223575	NM_001352837.2(ST18):c.2218G>A (p.Ala740Thr)	ST18 (A394T +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2511948	NM_001352837.2(ST18):c.2138A>T (p.His713Leu)	ST18 (H367L +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268269	NM_001352837.2(ST18):c.2108C>A (p.Ala703Asp)	ST18 (A674D +5 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537666	NM_001352837.2(ST18):c.2029G>A (p.Gly677Arg)	ST18 (G642R +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2356969	NM_001352837.2(ST18):c.1970A>G (p.Tyr657Cys)	ST18 (Y628C +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2274287	NM_001352837.2(ST18):c.1969T>C (p.Tyr657His)	ST18 (Y628H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2319637	NM_001352837.2(ST18):c.1952T>C (p.Leu651Pro)	ST18 (L622P +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2302493	NM_001352837.2(ST18):c.1939A>G (p.Thr647Ala)	ST18 (T612A +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2396349	NM_001352837.2(ST18):c.1873G>A (p.Asp625Asn)	ST18 (D625N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2325487	NM_001352837.2(ST18):c.1774C>T (p.Leu592Phe)	ST18 (L328F +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375936	NM_001352837.2(ST18):c.1772T>A (p.Ile591Asn)	ST18 (I238N +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372365	NM_001352837.2(ST18):c.1690G>A (p.Gly564Ser)	ST18 (G529S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392675	NM_001352837.2(ST18):c.1669C>T (p.Arg557Cys)	ST18 (R204C +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346449	NM_001352837.2(ST18):c.1609A>G (p.Asn537Asp)	ST18 (N273D +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229052	NM_001352837.2(ST18):c.1606C>T (p.Pro536Ser)	ST18 (P272S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2532833	NM_001352837.2(ST18):c.1552A>G (p.Ile518Val)	ST18 (I254V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2274476	NM_001352837.2(ST18):c.1537G>A (p.Gly513Ser)	ST18 (G160S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363080	NM_001352837.2(ST18):c.1514C>T (p.Ala505Val)	ST18 (A470V +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2322771	NM_001352837.2(ST18):c.1465A>G (p.Thr489Ala)	ST18 (T225A +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622666	NM_001352837.2(ST18):c.1430A>G (p.Asn477Ser)	ST18 (N213S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323227	NM_001352837.2(ST18):c.1339T>C (p.Ser447Pro)	ST18 (S183P +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2351713	NM_001352837.2(ST18):c.1241C>T (p.Thr414Met)	ST18 (T379M +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474384	NM_001352837.2(ST18):c.1151C>T (p.Pro384Leu)	ST18 (P120L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458638	NM_001352837.2(ST18):c.986G>T (p.Arg329Met)	ST18 (R294M +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2600061	NM_001352837.2(ST18):c.737G>T (p.Cys246Phe)	ST18 (C246F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2336323	NM_001352837.2(ST18):c.595G>A (p.Ala199Thr)	ST18 (A164T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2554816	NM_001352837.2(ST18):c.536T>G (p.Ile179Ser)	ST18 (I179S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2401933	NM_001352837.2(ST18):c.465G>C (p.Gln155His)	ST18 (Q120H +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2346254	NM_001352837.2(ST18):c.419T>C (p.Val140Ala)	ST18 (V140A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GLikely benign
Select item 2488550	NM_001352837.2(ST18):c.365A>T (p.Tyr122Phe)	ST18 (Y122F +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2341581	NM_001352837.2(ST18):c.362G>C (p.Cys121Ser)	ST18 (C121S +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2618521	NM_001352837.2(ST18):c.300G>T (p.Met100Ile)	ST18 (M65I +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2227622	NM_001352837.2(ST18):c.220C>T (p.Arg74Cys)	ST18 (R39C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2238794	NM_001352837.2(ST18):c.109G>A (p.Ala37Thr)	ST18 (A2T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2368990	NM_001352837.2(ST18):c.107T>C (p.Met36Thr)	ST18 (M36T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance

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Items: 44