"Ambry Genetics"[submitter] AND "ADAMTSL5"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2306538	NM_213604.3(ADAMTSL5):c.1411G>A (p.Gly471Ser)	ADAMTSL5 (G481S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079851	NM_213604.3(ADAMTSL5):c.1345G>A (p.Gly449Ser)	ADAMTSL5 (G459S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079847	NM_213604.3(ADAMTSL5):c.1216C>G (p.Arg406Gly)	ADAMTSL5 (R406G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079843	NM_213604.3(ADAMTSL5):c.1202C>T (p.Ser401Leu)	ADAMTSL5 (S401L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079840	NM_213604.3(ADAMTSL5):c.1174C>T (p.Arg392Cys)	ADAMTSL5 (R392C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079839	NM_213604.3(ADAMTSL5):c.1162C>T (p.Arg388Cys)	ADAMTSL5 (R398C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079836	NM_213604.3(ADAMTSL5):c.1123G>T (p.Ala375Ser)	ADAMTSL5 (A375S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371826	NM_213604.3(ADAMTSL5):c.1102G>A (p.Gly368Ser)	ADAMTSL5 (G368S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378354	NM_213604.3(ADAMTSL5):c.1037C>T (p.Ala346Val)	ADAMTSL5 (A346V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284611	NM_213604.3(ADAMTSL5):c.1003C>G (p.Pro335Ala)	ADAMTSL5 (P335A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079961	NM_213604.3(ADAMTSL5):c.997G>A (p.Ala333Thr)	ADAMTSL5 (A333T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592842	NM_213604.3(ADAMTSL5):c.974G>A (p.Arg325Gln)	ADAMTSL5 (R325Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371121	NM_213604.3(ADAMTSL5):c.973C>T (p.Arg325Trp)	ADAMTSL5 (R325W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268629	NM_213604.3(ADAMTSL5):c.964C>T (p.Pro322Ser)	ADAMTSL5 (P322S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079953	NM_213604.3(ADAMTSL5):c.959G>T (p.Arg320Met)	ADAMTSL5 (R320M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079951	NM_213604.3(ADAMTSL5):c.932G>C (p.Arg311Pro)	ADAMTSL5 (R311P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401302	NM_213604.3(ADAMTSL5):c.931C>T (p.Arg311Cys)	ADAMTSL5 (R311C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268648	NM_213604.3(ADAMTSL5):c.911G>A (p.Arg304His)	ADAMTSL5 (R304H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510768	NM_213604.3(ADAMTSL5):c.905G>A (p.Arg302Gln)	ADAMTSL5 (R302Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079942	NM_213604.3(ADAMTSL5):c.904C>T (p.Arg302Trp)	ADAMTSL5 (R302W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346553	NM_213604.3(ADAMTSL5):c.883G>A (p.Glu295Lys)	ADAMTSL5 (E295K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079929	NM_213604.3(ADAMTSL5):c.868C>G (p.Pro290Ala)	ADAMTSL5 (P290A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376495	NM_213604.3(ADAMTSL5):c.862C>A (p.Gln288Lys)	ADAMTSL5 (Q288K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079922	NM_213604.3(ADAMTSL5):c.788G>A (p.Arg263Gln)	ADAMTSL5 (R273Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351676	NM_213604.3(ADAMTSL5):c.766G>A (p.Gly256Ser)	ADAMTSL5 (G256S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268607	NM_213604.3(ADAMTSL5):c.730T>C (p.Trp244Arg)	ADAMTSL5 (W254R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237481	NM_213604.3(ADAMTSL5):c.713A>G (p.Tyr238Cys)	ADAMTSL5 (Y238C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208514	NM_213604.3(ADAMTSL5):c.701G>A (p.Gly234Asp)	ADAMTSL5 (G234D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245098	NM_213604.3(ADAMTSL5):c.696G>C (p.Met232Ile)	ADAMTSL5 (M232I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594648	NM_213604.3(ADAMTSL5):c.670A>G (p.Arg224Gly)	ADAMTSL5 (R234G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217929	NM_213604.3(ADAMTSL5):c.598G>A (p.Ala200Thr)	ADAMTSL5 (A200T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602305	NM_213604.3(ADAMTSL5):c.520G>T (p.Gly174Cys)	ADAMTSL5 (G174C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268618	NM_213604.3(ADAMTSL5):c.454G>A (p.Gly152Ser)	ADAMTSL5 (G152S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608764	NM_213604.3(ADAMTSL5):c.451C>T (p.Pro151Ser)	ADAMTSL5 (P151S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268637	NM_213604.3(ADAMTSL5):c.425G>A (p.Arg142His)	ADAMTSL5 (R142H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311643	NM_213604.3(ADAMTSL5):c.421G>A (p.Gly141Ser)	ADAMTSL5 (G141S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244842	NM_213604.3(ADAMTSL5):c.311G>A (p.Arg104His)	ADAMTSL5 (R114H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2527927	NM_213604.3(ADAMTSL5):c.310C>A (p.Arg104Ser)	ADAMTSL5 (R104S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259238	NM_213604.3(ADAMTSL5):c.310C>T (p.Arg104Cys)	ADAMTSL5 (R114C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268611	NM_213604.3(ADAMTSL5):c.251C>T (p.Pro84Leu)	ADAMTSL5 (P84L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079882	NM_213604.3(ADAMTSL5):c.241T>A (p.Cys81Ser)	ADAMTSL5 (C91S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391243	NM_213604.3(ADAMTSL5):c.229G>A (p.Glu77Lys)	ADAMTSL5 (E77K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359140	NM_213604.3(ADAMTSL5):c.209C>T (p.Pro70Leu)	ADAMTSL5 (P70L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2599406	NM_213604.3(ADAMTSL5):c.190C>T (p.Arg64Trp)	ADAMTSL5 (R64W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079870	NM_213604.3(ADAMTSL5):c.179G>A (p.Arg60Gln)	ADAMTSL5 (R60Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346083	NM_213604.3(ADAMTSL5):c.178C>T (p.Arg60Trp)	ADAMTSL5 (R70W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541300	NM_213604.3(ADAMTSL5):c.173G>A (p.Arg58His)	ADAMTSL5 (R58H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382635	NM_213604.3(ADAMTSL5):c.158G>A (p.Arg53His)	ADAMTSL5 (R63H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594587	NM_213604.3(ADAMTSL5):c.157C>T (p.Arg53Cys)	ADAMTSL5 (R53C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511854	NM_213604.3(ADAMTSL5):c.137G>A (p.Arg46His)	ADAMTSL5 (R56H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348702	NM_213604.3(ADAMTSL5):c.109G>A (p.Glu37Lys)	ADAMTSL5 (E37K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352079	NM_213604.3(ADAMTSL5):c.89T>C (p.Val30Ala)	ADAMTSL5 (V40A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241963	NM_213604.3(ADAMTSL5):c.88G>T (p.Val30Phe)	ADAMTSL5 (V30F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079855	NM_213604.3(ADAMTSL5):c.13C>A (p.Pro5Thr)	ADAMTSL5 (P5T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 54