"Ambry Genetics"[submitter] AND "ADAMTSL2"[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268345	NM_014694.4(ADAMTSL2):c.73G>T (p.Val25Leu)	ADAMTSL2 (V25L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079111	NM_014694.4(ADAMTSL2):c.122G>C (p.Gly41Ala)	ADAMTSL2 (G41A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2281718	NM_014694.4(ADAMTSL2):c.242C>T (p.Ser81Phe)	ADAMTSL2 (S81F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268652	NM_014694.4(ADAMTSL2):c.248C>T (p.Pro83Leu)	ADAMTSL2 (P83L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079203	NM_014694.4(ADAMTSL2):c.272C>T (p.Thr91Met)	ADAMTSL2 (T91M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404983	NM_014694.4(ADAMTSL2):c.320C>T (p.Pro107Leu)	ADAMTSL2 (P107L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2382784	NM_014694.4(ADAMTSL2):c.352G>A (p.Val118Ile)	ADAMTSL2 (V118I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3079214	NM_014694.4(ADAMTSL2):c.382C>T (p.Arg128Trp)	ADAMTSL2 (R128W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079218	NM_014694.4(ADAMTSL2):c.383G>A (p.Arg128Gln)	ADAMTSL2 (R128Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079222	NM_014694.4(ADAMTSL2):c.427A>G (p.Ile143Val)	ADAMTSL2 (I143V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3268356	NM_014694.4(ADAMTSL2):c.509C>T (p.Ser170Phe)	ADAMTSL2 (S170F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222644	NM_014694.4(ADAMTSL2):c.650C>T (p.Thr217Met)	ADAMTSL2 (T217M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079228	NM_014694.4(ADAMTSL2):c.784T>C (p.Tyr262His)	ADAMTSL2 (Y262H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2520383	NM_014694.4(ADAMTSL2):c.901G>A (p.Val301Met)	ADAMTSL2 (V301M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2475223	NM_014694.4(ADAMTSL2):c.910G>A (p.Gly304Arg)	ADAMTSL2 (G304R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3079243	NM_014694.4(ADAMTSL2):c.968C>G (p.Ser323Cys)	ADAMTSL2 (S323C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2550621	NM_014694.4(ADAMTSL2):c.986C>T (p.Thr329Met)	ADAMTSL2 (T329M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2620111	NM_014694.4(ADAMTSL2):c.998C>T (p.Pro333Leu)	ADAMTSL2 (P333L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381412	NM_014694.4(ADAMTSL2):c.1048G>A (p.Ala350Thr)	ADAMTSL2 (A350T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208099	NM_014694.4(ADAMTSL2):c.1075G>A (p.Gly359Arg)	ADAMTSL2 (G359R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2404135	NM_014694.4(ADAMTSL2):c.1094C>T (p.Pro365Leu)	ADAMTSL2 (P365L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530556	NM_014694.4(ADAMTSL2):c.1114G>A (p.Gly372Ser)	ADAMTSL2 (G372S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531273	NM_014694.4(ADAMTSL2):c.1160G>A (p.Gly387Asp)	ADAMTSL2 (G387D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348282	NM_014694.4(ADAMTSL2):c.1166C>T (p.Pro389Leu)	ADAMTSL2 (P389L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 365590	NM_014694.4(ADAMTSL2):c.1198G>A (p.Gly400Ser)	ADAMTSL2 (G400S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912905	NM_014694.4(ADAMTSL2):c.1213G>A (p.Glu405Lys)	ADAMTSL2 (E405K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 913272	NM_014694.4(ADAMTSL2):c.1222G>A (p.Glu408Lys)	ADAMTSL2 (E408K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2458963	NM_014694.4(ADAMTSL2):c.1231G>A (p.Gly411Ser)	ADAMTSL2 (G411S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 913275	NM_014694.4(ADAMTSL2):c.1274G>A (p.Arg425Gln)	ADAMTSL2 (R425Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2462310	NM_014694.4(ADAMTSL2):c.1280G>T (p.Arg427Leu)	ADAMTSL2 (R427L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2454810	NM_014694.4(ADAMTSL2):c.1342G>A (p.Ala448Thr)	ADAMTSL2 (A448T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 594179	NM_014694.4(ADAMTSL2):c.1361C>T (p.Ser454Leu)	ADAMTSL2 (S454L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2267995	NM_014694.4(ADAMTSL2):c.1430C>T (p.Thr477Ile)	ADAMTSL2 (T477I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342943	NM_014694.4(ADAMTSL2):c.1507G>C (p.Glu503Gln)	ADAMTSL2 (E503Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305009	NM_014694.4(ADAMTSL2):c.1699C>T (p.Arg567Trp)	ADAMTSL2 (R567W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245895	NM_014694.4(ADAMTSL2):c.1700G>A (p.Arg567Gln)	ADAMTSL2 (R567Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2356220	NM_014694.4(ADAMTSL2):c.1792G>A (p.Glu598Lys)	ADAMTSL2 (E598K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2496244	NM_014694.4(ADAMTSL2):c.1817C>T (p.Ala606Val)	ADAMTSL2 (A606V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264899	NM_014694.4(ADAMTSL2):c.1907G>T (p.Arg636Leu)	ADAMTSL2 (R636L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458848	NM_014694.4(ADAMTSL2):c.1963C>T (p.Pro655Ser)	ADAMTSL2 (P655S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205218	NM_014694.4(ADAMTSL2):c.2008G>A (p.Glu670Lys)	ADAMTSL2 (E670K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2230950	NM_014694.4(ADAMTSL2):c.2014G>A (p.Val672Met)	ADAMTSL2 (V672M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2342026	NM_014694.4(ADAMTSL2):c.2018G>A (p.Arg673Gln)	ADAMTSL2 (R673Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 912944	NM_014694.4(ADAMTSL2):c.2036C>G (p.Thr679Ser)	ADAMTSL2 (T679S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2459212	NM_014694.4(ADAMTSL2):c.2122A>T (p.Thr708Ser)	ADAMTSL2 (T708S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458729	NM_014694.4(ADAMTSL2):c.2135G>A (p.Arg712His)	ADAMTSL2 (R712H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512670	NM_014694.4(ADAMTSL2):c.2164C>T (p.Pro722Ser)	ADAMTSL2 (P722S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315439	NM_014694.4(ADAMTSL2):c.2215C>T (p.Arg739Trp)	ADAMTSL2 (R739W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373509	NM_014694.4(ADAMTSL2):c.2235C>A (p.Asp745Glu)	ADAMTSL2 (D745E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285269	NM_014694.4(ADAMTSL2):c.2425A>G (p.Thr809Ala)	ADAMTSL2 (T809A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2458983	NM_014694.4(ADAMTSL2):c.2492C>T (p.Thr831Met)	ADAMTSL2 (T831M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373952	NM_014694.4(ADAMTSL2):c.2492C>G (p.Thr831Arg)	ADAMTSL2 (T831R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 914430	NM_014694.4(ADAMTSL2):c.2533G>A (p.Glu845Lys)	ADAMTSL2 (E845K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2375194	NM_014694.4(ADAMTSL2):c.2632G>A (p.Val878Ile)	ADAMTSL2 (V878I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364523	NM_014694.4(ADAMTSL2):c.2671G>A (p.Asp891Asn)	ADAMTSL2 (D891N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 55