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

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2327030	NM_002340.6(LSS):c.2193C>A (p.His731Gln)	LSS (H651Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121361	NM_002340.6(LSS):c.2171C>G (p.Pro724Arg)	LSS (P644R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231899	NM_002340.6(LSS):c.2141G>T (p.Trp714Leu)	LSS (W634L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292179	NM_002340.6(LSS):c.2117G>C (p.Ser706Thr)	LSS (S626T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121360	NM_002340.6(LSS):c.2066A>C (p.Gln689Pro)	LSS (Q689P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352802	NM_002340.6(LSS):c.2051A>G (p.Asn684Ser)	LSS (N604S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2561902	NM_002340.6(LSS):c.2044C>T (p.Leu682Phe)	LSS (L602F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985021	NM_002340.6(LSS):c.1895A>G (p.Asp632Gly)	LSS (D552G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347605	NM_002340.6(LSS):c.1822G>A (p.Ala608Thr)	LSS (A528T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121359	NM_002340.6(LSS):c.1793G>A (p.Cys598Tyr)	LSS (C598Y +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121358	NM_002340.6(LSS):c.1700G>T (p.Cys567Phe)	LSS (C487F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2395593	NM_002340.6(LSS):c.1637A>G (p.Lys546Arg)	LSS (K466R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121357	NM_002340.6(LSS):c.1609G>A (p.Val537Met)	LSS (V457M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121356	NM_002340.6(LSS):c.1565-2del	LSS	Deletion (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3292181	NM_002340.6(LSS):c.1543C>G (p.Leu515Val)	LSS (L435V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523900	NM_002340.6(LSS):c.1490A>G (p.Asp497Gly)	LSS (D417G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333081	NM_002340.6(LSS):c.1467+6G>A	LSS	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2207190	NM_002340.6(LSS):c.1444C>T (p.Arg482Trp)	LSS (R482W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266096	NM_002340.6(LSS):c.1434C>G (p.Ile478Met)	LSS (I398M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616857	NM_002340.6(LSS):c.1415C>T (p.Pro472Leu)	LSS (P392L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2273660	NM_002340.6(LSS):c.1383G>C (p.Leu461Phe)	LSS (L381F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2617229	NM_002340.6(LSS):c.1168G>A (p.Ala390Thr)	LSS (A310T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 681490	NM_002340.6(LSS):c.1138-4G>T	LSS	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3121354	NM_002340.6(LSS):c.1111A>T (p.Met371Leu)	LSS (M291L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3292182	NM_002340.6(LSS):c.1083T>G (p.His361Gln)	LSS (H281Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292178	NM_002340.6(LSS):c.1063T>A (p.Ser355Thr)	LSS (S275T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2385894	NM_002340.6(LSS):c.1060G>A (p.Ala354Thr)	LSS (A343T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2295895	NM_002340.6(LSS):c.1003A>G (p.Ile335Val)	LSS (I255V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335116	NM_002340.6(LSS):c.950A>G (p.Gln317Arg)	LSS (Q237R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2379364	NM_002340.6(LSS):c.908A>T (p.Tyr303Phe)	LSS (Y223F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121365	NM_002340.6(LSS):c.847G>A (p.Asp283Asn)	LSS (D283N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409470	NM_002340.6(LSS):c.838G>A (p.Val280Met)	LSS (V269M +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2241198	NM_002340.6(LSS):c.824C>T (p.Ala275Val)	LSS (A195V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1306749	NM_002340.6(LSS):c.779G>A (p.Arg260His)	LSS (R180H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3121364	NM_002340.6(LSS):c.751G>A (p.Ala251Thr)	LSS (A251T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2361445	NM_002340.6(LSS):c.740G>A (p.Arg247Gln)	LSS (R236Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614686	NM_002340.6(LSS):c.739C>T (p.Arg247Trp)	LSS (R247W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329793	NM_002340.6(LSS):c.736G>A (p.Val246Ile)	LSS (V246I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3121363	NM_002340.6(LSS):c.686T>A (p.Leu229His)	LSS (L229H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536580	NM_002340.6(LSS):c.620G>T (p.Gly207Val)	LSS (G196V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2265183	NM_002340.6(LSS):c.613T>A (p.Trp205Arg)	LSS (W125R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1703938	NM_002340.6(LSS):c.596T>G (p.Val199Gly)	LSS (V119G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227722	NM_002340.6(LSS):c.494del (p.Gly165fs)	LSS (G165fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 2332906	NM_002340.6(LSS):c.416G>A (p.Gly139Asp)	LSS (G139D +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2318118	NM_002340.6(LSS):c.405G>T (p.Gln135His)	LSS (Q135H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2381297	NM_002340.6(LSS):c.386G>A (p.Arg129Gln)	LSS (R49Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985022	NM_002340.6(LSS):c.386G>C (p.Arg129Pro)	LSS (R129P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3121362	NM_002340.6(LSS):c.340G>A (p.Val114Met)	LSS (V34M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546654	NM_002340.6(LSS):c.263A>T (p.Gln88Leu)	LSS (Q8L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3292180	NM_002340.6(LSS):c.253G>A (p.Val85Met)	LSS (V85M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593050	NM_002340.6(LSS):c.217G>A (p.Ala73Thr)	LSS (A73T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2334719	NM_002340.6(LSS):c.158C>T (p.Ala53Val)	LSS (A53V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487992	NM_002340.6(LSS):c.149G>T (p.Gly50Val)	LSS (G50V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2619602	NM_002340.6(LSS):c.55G>A (p.Ala19Thr)	LOC130066868, LSS (A19T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2542524	NM_002340.6(LSS):c.31G>C (p.Gly11Arg)	LSS (G11R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283351	NM_002340.6(LSS):c.15-5C>G	LSS	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 56