ClinVar for Gene (Select 130056931) - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3264921	NM_138477.4(CDAN1):c.337G>A (p.Ala113Thr)	CDAN1, LOC130056931 (A113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3264917	NM_138477.4(CDAN1):c.229G>A (p.Gly77Ser)	CDAN1, LOC130056931 (G77S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3008458	NM_138477.4(CDAN1):c.426G>A (p.Gly142=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2994000	NM_138477.4(CDAN1):c.408G>A (p.Leu136=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977875	NM_138477.4(CDAN1):c.336G>A (p.Glu112=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963814	NM_138477.4(CDAN1):c.498G>A (p.Leu166=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2921038	NM_138477.4(CDAN1):c.313G>A (p.Glu105Lys)	CDAN1, LOC130056931 (E105K)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2916985	NM_138477.4(CDAN1):c.327C>G (p.Thr109=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2841358	NM_138477.4(CDAN1):c.435G>T (p.Leu145=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2825166	NM_138477.4(CDAN1):c.360C>G (p.Gly120=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2769898	NM_138477.4(CDAN1):c.305C>T (p.Pro102Leu)	CDAN1, LOC130056931 (P102L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2712812	NM_138477.4(CDAN1):c.333C>G (p.Ala111=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690561	NM_138477.4(CDAN1):c.230del (p.Gly77fs)	CDAN1, LOC130056931 (G77fs)	Deletion (frameshift variant)	Anemia, congenital dyserythropoietic, type 1a	GLikely pathogenic
Select item 2683294	NM_138477.4(CDAN1):c.287C>T (p.Ala96Val)	CDAN1, LOC130056931 (A96V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683293	NM_138477.4(CDAN1):c.446G>A (p.Gly149Glu)	CDAN1, LOC130056931 (G149E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635130	NM_138477.4(CDAN1):c.289C>A (p.Arg97Ser)	LOC130056931, CDAN1 (R97S)	Single nucleotide variant (missense variant)	CDAN1-related disorder	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 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 2439848	NM_138477.4(CDAN1):c.463G>A (p.Gly155Ser)	CDAN1, LOC130056931 (G155S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a	GUncertain significance
Select item 2439839	NM_138477.4(CDAN1):c.494C>T (p.Thr165Met)	CDAN1, LOC130056931 (T165M)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 2419031	NM_138477.4(CDAN1):c.473GCCCCAGCC[3] (p.Ser163_Leu164insArgProSer)	CDAN1, LOC130056931	Microsatellite (inframe_insertion)	not provided	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 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 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 2185877	NM_138477.4(CDAN1):c.438C>T (p.Pro146=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996421	NM_138477.4(CDAN1):c.239C>T (p.Ala80Val)	CDAN1, LOC130056931 (A80V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993181	NM_138477.4(CDAN1):c.343C>T (p.Leu115=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1955405	NM_138477.4(CDAN1):c.507G>A (p.Pro169=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1943298	NM_138477.4(CDAN1):c.340C>T (p.Pro114Ser)	CDAN1, LOC130056931 (P114S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1907800	NM_138477.4(CDAN1):c.375G>A (p.Pro125=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1693638	NM_138477.4(CDAN1):c.442G>A (p.Ala148Thr)	CDAN1, LOC130056931 (A148T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679451	NM_138477.4(CDAN1):c.278_279delinsAT (p.Ser93Asn)	CDAN1, LOC130056931 (S93N)	Indel (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 1675570	NM_138477.4(CDAN1):c.227C>A (p.Pro76Gln)	CDAN1, LOC130056931 (P76Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313325	NM_138477.4(CDAN1):c.289C>T (p.Arg97Cys)	CDAN1, LOC130056931 (R97C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 888410	NM_138477.4(CDAN1):c.333C>T (p.Ala111=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 888409	NM_138477.4(CDAN1):c.392G>A (p.Arg131His)	LOC130056931, CDAN1 (R131H)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
Select item 885303	NM_138477.4(CDAN1):c.257C>T (p.Pro86Leu)	CDAN1, LOC130056931 (P86L)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885302	NM_138477.4(CDAN1):c.274G>C (p.Gly92Arg)	CDAN1, LOC130056931 (G92R)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 885301	NM_138477.4(CDAN1):c.324C>T (p.Ser108=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 784319	NM_138477.4(CDAN1):c.309G>T (p.Pro103=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GBenign/Likely benign
Select item 744019	NM_138477.4(CDAN1):c.483C>T (p.Arg161=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 713021	NM_138477.4(CDAN1):c.433C>T (p.Leu145=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315955	NM_138477.4(CDAN1):c.237G>C (p.Ser79=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +2 more	GBenign/Likely benign
Select item 315954	NM_138477.4(CDAN1):c.255G>A (p.Arg85=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I	GUncertain significance
Select item 315953	NM_138477.4(CDAN1):c.256C>T (p.Pro86Ser)	CDAN1, LOC130056931 (P86S)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GConflicting classifications of pathogenicity
Select item 262378	NM_138477.4(CDAN1):c.477C>T (p.Pro159=)	LOC130056931, CDAN1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 262377	NM_138477.4(CDAN1):c.443C>T (p.Ala148Val)	CDAN1, LOC130056931 (A148V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 148856	GRCh38/hg38 15q15.2-15.3(chr15:42566761-43847106)x1	ADAL, CATSPER2 +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 21752	NM_138477.4(CDAN1):c.386G>A (p.Arg129His)	CDAN1, LOC130056931 (R129H)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +2 more	GBenign/Likely benign
Select item 21751	NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu)	CDAN1, LOC130056931 (Q107L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign

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Items: 50