"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CDAN1"[gen - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 315907	NM_138477.4(CDAN1):c.*788G>T	CDAN1	Single nucleotide variant (3 prime UTR variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
Select item 1879293	NM_138477.4(CDAN1):c.3639T>C (p.Cys1213=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 315922	NM_138477.4(CDAN1):c.3194G>A (p.Arg1065Gln)	CDAN1 (R1065Q)	Single nucleotide variant (missense variant)	CDAN1-related condition +3 more	GBenign/Likely benign
Select item 3176	NM_138477.4(CDAN1):c.3124C>T (p.Arg1042Trp)	CDAN1 (R1042W)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GPathogenic/Likely pathogenic
Select item 2582929	NM_138477.4(CDAN1):c.2992C>T (p.Arg998Ter)	CDAN1 (R998*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 235430	NM_138477.4(CDAN1):c.2836C>T (p.Arg946Trp)	CDAN1 (R946W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 774940	NM_138477.4(CDAN1):c.2743T>C (p.Leu915=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 784318	NM_138477.4(CDAN1):c.2738A>T (p.Gln913Leu)	CDAN1 (Q913L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 888270	NM_138477.4(CDAN1):c.2725G>A (p.Gly909Arg)	CDAN1 (G909R)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
Select item 2645253	NM_138477.4(CDAN1):c.2595C>T (p.Thr865=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645254	NM_138477.4(CDAN1):c.2536C>T (p.Leu846=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262372	NM_138477.4(CDAN1):c.2463G>A (p.Gly821=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 315935	NM_138477.4(CDAN1):c.2406C>T (p.Ile802=)	CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 887074	NM_138477.4(CDAN1):c.2164C>T (p.Arg722Cys)	CDAN1 (R722C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 887075	NM_138477.4(CDAN1):c.2088G>A (p.Leu696=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 740412	NM_138477.4(CDAN1):c.2076C>T (p.Thr692=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 315940	NM_138477.4(CDAN1):c.2008-8C>T	CDAN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
Select item 315943	NM_138477.4(CDAN1):c.1967C>G (p.Thr656Ser)	CDAN1 (T656S)	Single nucleotide variant (missense variant)	CDAN1-related condition +3 more	GLikely benign
Select item 315947	NM_138477.4(CDAN1):c.1524A>G (p.Gln508=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2645255	NM_138477.4(CDAN1):c.1086C>T (p.Ser362=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2645256	NM_138477.4(CDAN1):c.967T>C (p.Leu323=)	CDAN1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2439846	NM_138477.4(CDAN1):c.548C>T (p.Ser183Leu)	CDAN1 (S183L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +1 more	GUncertain significance
Select item 784319	NM_138477.4(CDAN1):c.309G>T (p.Pro103=)	CDAN1, LOC130056931	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely 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 1675570	NM_138477.4(CDAN1):c.227C>A (p.Pro76Gln)	CDAN1, LOC130056931 (P76Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 315959	NM_138477.4(CDAN1):c.-14G>A	LOC130056933, CDAN1	Single nucleotide variant (5 prime UTR variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity

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Items: 26