"Ambry Genetics"[submitter] AND "INTS2"[gene] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2313551	NM_001351695.2(INTS2):c.3446C>G (p.Pro1149Arg)	INTS2 (P1149R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286226	NM_001351695.2(INTS2):c.3391C>A (p.Gln1131Lys)	INTS2 (Q1131K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387501	NM_001351695.2(INTS2):c.3356A>G (p.Gln1119Arg)	INTS2 (Q1119R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551195	NM_001351695.2(INTS2):c.3320C>T (p.Pro1107Leu)	INTS2 (P1107L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253639	NM_001351695.2(INTS2):c.3265T>C (p.Tyr1089His)	INTS2 (Y1089H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110170	NM_001351695.2(INTS2):c.3248T>C (p.Leu1083Ser)	INTS2 (L1083S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286224	NM_001351695.2(INTS2):c.3179A>G (p.Tyr1060Cys)	INTS2 (Y1060C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110169	NM_001351695.2(INTS2):c.3161C>G (p.Ser1054Cys)	INTS2 (S1054C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110168	NM_001351695.2(INTS2):c.3143T>A (p.Phe1048Tyr)	INTS2 (F1048Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485250	NM_001351695.2(INTS2):c.3139A>C (p.Ile1047Leu)	INTS2 (I1047L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286225	NM_001351695.2(INTS2):c.2985A>C (p.Gln995His)	INTS2 (Q1003H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550034	NM_001351695.2(INTS2):c.2969G>A (p.Cys990Tyr)	INTS2 (C990Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533290	NM_001351695.2(INTS2):c.2940T>G (p.Cys980Trp)	INTS2 (C980W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286218	NM_001351695.2(INTS2):c.2933T>G (p.Leu978Trp)	INTS2 (L986W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556945	NM_001351695.2(INTS2):c.2753T>C (p.Leu918Ser)	INTS2 (L918S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512922	NM_001351695.2(INTS2):c.2708G>T (p.Gly903Val)	INTS2 (G903V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411054	NM_001351695.2(INTS2):c.2696A>G (p.Asn899Ser)	INTS2 (N899S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110167	NM_001351695.2(INTS2):c.2662C>A (p.Leu888Met)	INTS2 (L896M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110166	NM_001351695.2(INTS2):c.2431G>A (p.Val811Ile)	INTS2 (V811I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110165	NM_001351695.2(INTS2):c.2395C>G (p.Arg799Gly)	INTS2 (R807G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255897	NM_001351695.2(INTS2):c.2395C>T (p.Arg799Trp)	INTS2 (R807W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110164	NM_001351695.2(INTS2):c.2345C>T (p.Ala782Val)	INTS2 (A790V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110163	NM_001351695.2(INTS2):c.2300T>C (p.Ile767Thr)	INTS2 (I775T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597955	NM_001351695.2(INTS2):c.2230C>A (p.His744Asn)	INTS2 (H744N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243027	NM_001351695.2(INTS2):c.1985C>G (p.Ala662Gly)	INTS2 (A670G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523188	NM_001351695.2(INTS2):c.1901G>A (p.Arg634His)	INTS2 (R642H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286098	NM_001351695.2(INTS2):c.1900C>T (p.Arg634Cys)	INTS2 (R642C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345426	NM_001351695.2(INTS2):c.1796C>T (p.Ala599Val)	INTS2 (A599V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479917	NM_001351695.2(INTS2):c.1766A>C (p.Asp589Ala)	INTS2 (D589A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278715	NM_001351695.2(INTS2):c.1742A>G (p.His581Arg)	INTS2 (H589R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320586	NM_001351695.2(INTS2):c.1616A>G (p.Asn539Ser)	INTS2 (N539S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110159	NM_001351695.2(INTS2):c.1534A>G (p.Ile512Val)	INTS2 (I520V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286223	NM_001351695.2(INTS2):c.1330A>T (p.Met444Leu)	INTS2 (M452L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286217	NM_001351695.2(INTS2):c.1229G>A (p.Arg410His)	INTS2, LOC130061361 (R410H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333583	NM_001351695.2(INTS2):c.1049G>A (p.Arg350Gln)	INTS2 (R358Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382873	NM_001351695.2(INTS2):c.1043G>A (p.Ser348Asn)	INTS2 (S348N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541090	NM_001351695.2(INTS2):c.1019T>C (p.Met340Thr)	INTS2 (M348T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249450	NM_001351695.2(INTS2):c.1009C>G (p.Leu337Val)	INTS2 (L345V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455265	NM_001351695.2(INTS2):c.971G>C (p.Ser324Thr)	INTS2 (S324T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110172	NM_001351695.2(INTS2):c.960A>C (p.Lys320Asn)	INTS2 (K328N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613747	NM_001351695.2(INTS2):c.946G>A (p.Gly316Arg)	INTS2 (G316R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270816	NM_001351695.2(INTS2):c.916C>T (p.Arg306Trp)	INTS2 (R314W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406973	NM_001351695.2(INTS2):c.754C>G (p.Gln252Glu)	INTS2 (Q252E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272314	NM_001351695.2(INTS2):c.710G>A (p.Arg237His)	INTS2 (R245H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236228	NM_001351695.2(INTS2):c.584A>G (p.His195Arg)	INTS2 (H195R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211940	NM_001351695.2(INTS2):c.446A>G (p.Asn149Ser)	INTS2 (N149S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3286221	NM_001351695.2(INTS2):c.370C>T (p.His124Tyr)	INTS2 (H132Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286219	NM_001351695.2(INTS2):c.346C>G (p.His116Asp)	INTS2 (H116D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110171	NM_001351695.2(INTS2):c.314G>A (p.Ser105Asn)	INTS2 (S105N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3286222	NM_001351695.2(INTS2):c.296A>G (p.His99Arg)	INTS2 (H107R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110160	NM_001351695.2(INTS2):c.170C>T (p.Ala57Val)	INTS2 (A57V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3110162	NM_001351695.2(INTS2):c.-3A>G	INTS2 (I8V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2553986	NM_001351695.2(INTS2):c.-17A>G	INTS2 (D3G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

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Items: 53