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

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2472003	NM_001098814.2(SRL):c.1385G>A (p.Cys462Tyr)	SRL (C420Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169994	NM_001098814.2(SRL):c.1279T>C (p.Phe427Leu)	SRL (F385L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322647	NM_001098814.2(SRL):c.1250C>G (p.Ser417Cys)	SRL (S375C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322650	NM_001098814.2(SRL):c.1246C>T (p.Leu416Phe)	SRL (L374F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212480	NM_001098814.2(SRL):c.1216G>A (p.Gly406Ser)	SRL (G406S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476299	NM_001098814.2(SRL):c.1197G>C (p.Glu399Asp)	SRL (E357D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169991	NM_001098814.2(SRL):c.1105A>G (p.Lys369Glu)	SRL (K327E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603826	NM_001098814.2(SRL):c.1074G>A (p.Met358Ile)	SRL (M358I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475367	NM_001098814.2(SRL):c.1040T>C (p.Val347Ala)	SRL (V305A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618590	NM_001098814.2(SRL):c.996C>A (p.Phe332Leu)	SRL (F290L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322649	NM_001098814.2(SRL):c.973A>G (p.Arg325Gly)	SRL (R283G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170000	NM_001098814.2(SRL):c.859A>G (p.Arg287Gly)	SRL (R245G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558230	NM_001098814.2(SRL):c.722G>A (p.Arg241His)	SRL (R241H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169999	NM_001098814.2(SRL):c.713T>C (p.Met238Thr)	SRL (M196T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205342	NM_001098814.2(SRL):c.682A>G (p.Thr228Ala)	SRL (T186A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169998	NM_001098814.2(SRL):c.601C>G (p.Gln201Glu)	SRL (Q159E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345742	NM_001098814.2(SRL):c.586G>A (p.Glu196Lys)	SRL (E154K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324824	NM_001098814.2(SRL):c.553A>T (p.Arg185Trp)	SRL (R185W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169996	NM_001098814.2(SRL):c.379G>A (p.Ala127Thr)	SRL (A127T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322646	NM_001098814.2(SRL):c.241C>T (p.Arg81Trp)	SRL (R81W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169995	NM_001098814.2(SRL):c.176G>A (p.Arg59Gln)	SRL (R17Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515990	NM_001098814.2(SRL):c.145C>T (p.Pro49Ser)	SRL (P49S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519073	NM_001098814.2(SRL):c.142A>C (p.Lys48Gln)	SRL (K48Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594306	NM_001098814.2(SRL):c.138G>C (p.Glu46Asp)	SRL (E4D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551954	NM_001098814.2(SRL):c.73G>T (p.Asp25Tyr)	SRL (D25Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3322648	NM_001098814.2(SRL):c.38C>T (p.Ser13Leu)	SRL (S13L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315232	NM_001098814.2(SRL):c.35C>T (p.Ala12Val)	SRL (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169993	NM_001098814.2(SRL):c.11T>A (p.Leu4Gln)	SRL (L4Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 28