"Ambry Genetics"[submitter] AND "DIS3L2"[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 895501	NM_152383.5(DIS3L2):c.47C>A (p.Pro16His)	DIS3L2 (P16H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 463124	NM_152383.5(DIS3L2):c.64G>C (p.Val22Leu)	DIS3L2 (V22L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 410727	NM_152383.5(DIS3L2):c.67G>C (p.Ala23Pro)	DIS3L2 (A23P)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 463130	NM_152383.5(DIS3L2):c.79G>C (p.Asp27His)	DIS3L2 (D27H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 463131	NM_152383.5(DIS3L2):c.86G>A (p.Gly29Asp)	DIS3L2 (G29D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 864192	NM_152383.5(DIS3L2):c.97G>C (p.Gly33Arg)	DIS3L2 (G33R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 1438232	NM_152383.5(DIS3L2):c.359A>G (p.His120Arg)	DIS3L2 (H120R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 241980	NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys)	DIS3L2 (Y137C)	Single nucleotide variant (missense variant +1 more)	DIS3L2-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1431430	NM_152383.5(DIS3L2):c.452C>T (p.Pro151Leu)	DIS3L2 (P151L)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1387859	NM_152383.5(DIS3L2):c.458A>C (p.Gln153Pro)	DIS3L2 (Q153P)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2542663	NM_152383.5(DIS3L2):c.493A>G (p.Ile165Val)	DIS3L2 (I165V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 655059	NM_152383.5(DIS3L2):c.520G>A (p.Asp174Asn)	DIS3L2 (D174N)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2610814	NM_152383.5(DIS3L2):c.530A>G (p.Asp177Gly)	DIS3L2 (D177G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 463125	NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg)	DIS3L2 (T221R)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +2 more	GConflicting classifications of pathogenicity
Select item 410745	NM_152383.5(DIS3L2):c.666A>C (p.Arg222Ser)	DIS3L2 (R222S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 1437356	NM_152383.5(DIS3L2):c.760T>G (p.Leu254Val)	DIS3L2 (L254V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2322035	NM_152383.5(DIS3L2):c.771G>T (p.Lys257Asn)	DIS3L2 (K257N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2317190	NM_152383.5(DIS3L2):c.823G>C (p.Val275Leu)	DIS3L2 (V275L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 463133	NM_152383.5(DIS3L2):c.919G>C (p.Asp307His)	DIS3L2 (D307H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1018873	NM_152383.5(DIS3L2):c.946C>G (p.Leu316Val)	DIS3L2 (L316V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 410738	NM_152383.5(DIS3L2):c.1019A>G (p.Tyr340Cys)	DIS3L2 (Y340C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 646787	NM_152383.5(DIS3L2):c.1159G>A (p.Ala387Thr)	DIS3L2 (A387T)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 580061	NM_152383.5(DIS3L2):c.1163G>A (p.Arg388Gln)	DIS3L2 (R388Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1004308	NM_152383.5(DIS3L2):c.1210T>A (p.Phe404Ile)	DIS3L2 (F404I)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 940288	NM_152383.5(DIS3L2):c.1253C>T (p.Pro418Leu)	DIS3L2 (P418L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 2486831	NM_152383.5(DIS3L2):c.1328T>C (p.Met443Thr)	DIS3L2 (M443T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 463062	NM_152383.5(DIS3L2):c.1540C>T (p.Pro514Ser)	DIS3L2 (P514S)	Single nucleotide variant (missense variant +1 more)	Perlman syndrome +1 more	GUncertain significance
Select item 661999	NM_152383.5(DIS3L2):c.1566C>G (p.Ser522Arg)	DIS3L2 (S522R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 410748	NM_152383.5(DIS3L2):c.1693G>A (p.Gly565Arg)	DIS3L2 (G565R)	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2493304	NM_152383.5(DIS3L2):c.1720G>A (p.Glu574Lys)	DIS3L2 (E574K)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 410736	NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp)	DIS3L2 (E574D)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 531943	NM_152383.5(DIS3L2):c.1769A>G (p.Asn590Ser)	DIS3L2 (N590S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1016620	NM_152383.5(DIS3L2):c.1784A>G (p.His595Arg)	DIS3L2 (H595R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 463075	NM_152383.5(DIS3L2):c.1795C>T (p.Arg599Cys)	DIS3L2 (R599C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 241966	NM_152383.5(DIS3L2):c.1894G>A (p.Val632Met)	DIS3L2 (V632M)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 463083	NM_152383.5(DIS3L2):c.1969C>T (p.Arg657Cys)	DIS3L2 (R657C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 531945	NM_152383.5(DIS3L2):c.2059C>T (p.Arg687Trp)	DIS3L2 (R687W)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 531950	NM_152383.5(DIS3L2):c.2068G>A (p.Ala690Thr)	DIS3L2 (A690T)	Single nucleotide variant (non-coding transcript variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2024492	NM_152383.5(DIS3L2):c.2102C>T (p.Ser701Leu)	DIS3L2 (S701L)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2292178	NM_152383.5(DIS3L2):c.2140C>A (p.Leu714Ile)	DIS3L2 (L714I)	Single nucleotide variant (intron variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 2191970	NM_152383.5(DIS3L2):c.2153C>T (p.Ala718Val)	DIS3L2 (A718V)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 334946	NM_152383.5(DIS3L2):c.2207C>T (p.Ala736Val)	DIS3L2 (A736V)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GConflicting classifications of pathogenicity
Select item 943932	NM_152383.5(DIS3L2):c.2224C>T (p.Arg742Cys)	DIS3L2 (R742C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 845908	NM_152383.5(DIS3L2):c.2240A>G (p.Lys747Arg)	DIS3L2 (K747R)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 531919	NM_152383.5(DIS3L2):c.2356G>T (p.Val786Leu)	DIS3L2 (V786L)	Single nucleotide variant (non-coding transcript variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 410744	NM_152383.5(DIS3L2):c.2371G>A (p.Val791Met)	DIS3L2 (V791M)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GUncertain significance
Select item 463111	NM_152383.5(DIS3L2):c.2608A>G (p.Lys870Glu)	DIS3L2 (K870E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 572427	NM_152383.5(DIS3L2):c.2629G>C (p.Gly877Arg)	DIS3L2 (G877R)	Single nucleotide variant (missense variant +2 more)	Perlman syndrome +1 more	GUncertain significance

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Items: 48