"Ambry Genetics"[submitter] AND "CDAN1"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2606922	NM_138477.4(CDAN1):c.3640G>A (p.Glu1214Lys)	CDAN1 (E1214K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299675	NM_138477.4(CDAN1):c.3589A>G (p.Asn1197Asp)	CDAN1 (N1197D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1033086	NM_138477.4(CDAN1):c.3556G>A (p.Gly1186Arg)	CDAN1 (G1186R)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GUncertain significance
Select item 2397747	NM_138477.4(CDAN1):c.3485T>A (p.Val1162Glu)	CDAN1 (V1162E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397663	NM_138477.4(CDAN1):c.3478G>A (p.Glu1160Lys)	CDAN1 (E1160K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2066634	NM_138477.4(CDAN1):c.3299C>T (p.Pro1100Leu)	CDAN1 (P1100L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2489953	NM_138477.4(CDAN1):c.3224A>C (p.Glu1075Ala)	CDAN1 (E1075A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320346	NM_138477.4(CDAN1):c.3182G>A (p.Gly1061Asp)	CDAN1 (G1061D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315095	NM_138477.4(CDAN1):c.3179T>G (p.Leu1060Arg)	CDAN1 (L1060R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478670	NM_138477.4(CDAN1):c.3152A>G (p.Glu1051Gly)	CDAN1 (E1051G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886001	NM_138477.4(CDAN1):c.3135C>A (p.Asp1045Glu)	CDAN1 (D1045E)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +3 more	GConflicting classifications of pathogenicity
Select item 2512630	NM_138477.4(CDAN1):c.3100G>A (p.Val1034Met)	CDAN1 (V1034M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235107	NM_138477.4(CDAN1):c.3065C>T (p.Pro1022Leu)	CDAN1 (P1022L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439831	NM_138477.4(CDAN1):c.2995G>A (p.Ala999Thr)	CDAN1 (A999T)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2389976	NM_138477.4(CDAN1):c.2876G>A (p.Ser959Asn)	CDAN1 (S959N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397720	NM_138477.4(CDAN1):c.2869G>A (p.Val957Ile)	CDAN1 (V957I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2514781	NM_138477.4(CDAN1):c.2863G>C (p.Ala955Pro)	CDAN1 (A955P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 887007	NM_138477.4(CDAN1):c.2801G>A (p.Arg934Gln)	CDAN1 (R934Q)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +2 more	GUncertain significance
Select item 1516232	NM_138477.4(CDAN1):c.2800C>T (p.Arg934Trp)	CDAN1 (R934W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +3 more	GUncertain significance
Select item 2139091	NM_138477.4(CDAN1):c.2712G>T (p.Gln904His)	CDAN1 (Q904H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2609851	NM_138477.4(CDAN1):c.2672G>T (p.Arg891Leu)	CDAN1 (R891L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439836	NM_138477.4(CDAN1):c.2672G>A (p.Arg891His)	CDAN1 (R891H)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2488897	NM_138477.4(CDAN1):c.2664T>G (p.Asp888Glu)	CDAN1 (D888E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397730	NM_138477.4(CDAN1):c.2660C>A (p.Ala887Glu)	CDAN1 (A887E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2397713	NM_138477.4(CDAN1):c.2585T>C (p.Leu862Ser)	CDAN1 (L862S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2270646	NM_138477.4(CDAN1):c.2542G>T (p.Ala848Ser)	CDAN1 (A848S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619635	NM_138477.4(CDAN1):c.2404A>G (p.Ile802Val)	CDAN1 (I802V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 886071	NM_138477.4(CDAN1):c.2360C>T (p.Ala787Val)	CDAN1 (A787V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 2443473	NM_138477.4(CDAN1):c.2285T>C (p.Leu762Ser)	CDAN1 (L762S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2397680	NM_138477.4(CDAN1):c.2198G>A (p.Ser733Asn)	CDAN1 (S733N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2397691	NM_138477.4(CDAN1):c.2101T>C (p.Ser701Pro)	CDAN1 (S701P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597071	NM_138477.4(CDAN1):c.2063G>A (p.Arg688Gln)	CDAN1 (R688Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465697	NM_138477.4(CDAN1):c.2042A>G (p.Gln681Arg)	CDAN1 (Q681R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465700	NM_138477.4(CDAN1):c.2009T>A (p.Val670Asp)	CDAN1 (V670D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268233	NM_138477.4(CDAN1):c.1994C>T (p.Ala665Val)	CDAN1 (A665V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394643	NM_138477.4(CDAN1):c.1868G>A (p.Arg623Gln)	CDAN1 (R623Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 315945	NM_138477.4(CDAN1):c.1766A>G (p.Asp589Gly)	CDAN1 (D589G)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2397660	NM_138477.4(CDAN1):c.1561G>A (p.Gly521Ser)	CDAN1 (G521S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2233907	NM_138477.4(CDAN1):c.1420G>T (p.Gly474Cys)	CDAN1 (G474C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596264	NM_138477.4(CDAN1):c.1280C>G (p.Ser427Cys)	CDAN1 (S427C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505684	NM_138477.4(CDAN1):c.1262C>G (p.Ser421Cys)	CDAN1 (S421C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2397759	NM_138477.4(CDAN1):c.1148A>G (p.Asn383Ser)	CDAN1 (N383S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 887149	NM_138477.4(CDAN1):c.982G>A (p.Val328Ile)	CDAN1 (V328I)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +3 more	GUncertain significance
Select item 2397769	NM_138477.4(CDAN1):c.919C>T (p.Leu307Phe)	CDAN1 (L307F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 994129	NM_138477.4(CDAN1):c.845G>A (p.Arg282Gln)	CDAN1 (R282Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2514737	NM_138477.4(CDAN1):c.728G>A (p.Gly243Glu)	CDAN1 (G243E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397738	NM_138477.4(CDAN1):c.605T>C (p.Val202Ala)	CDAN1 (V202A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533607	NM_138477.4(CDAN1):c.566C>T (p.Thr189Ile)	CDAN1 (T189I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397768	NM_138477.4(CDAN1):c.559G>A (p.Gly187Ser)	CDAN1 (G187S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2514769	NM_138477.4(CDAN1):c.481C>T (p.Arg161Cys)	CDAN1, LOC130056931 (R161C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2224030	NM_138477.4(CDAN1):c.449G>T (p.Gly150Val)	CDAN1, LOC130056931 (G150V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282118	NM_138477.4(CDAN1):c.427G>C (p.Glu143Gln)	CDAN1, LOC130056931 (E143Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536797	NM_138477.4(CDAN1):c.311C>T (p.Thr104Ile)	CDAN1, LOC130056931 (T104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397752	NM_138477.4(CDAN1):c.230G>C (p.Gly77Ala)	CDAN1, LOC130056931 (G77A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1163376	NM_138477.4(CDAN1):c.187C>T (p.Arg63Cys)	CDAN1 (R63C)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GUncertain significance
Select item 2397806	NM_138477.4(CDAN1):c.46G>T (p.Ala16Ser)	CDAN1 (A16S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 56