ClinVar for MedGen (Select 816515) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065408	NM_001321759.2(CDIN1):c.206A>G (p.Tyr69Cys)	CDIN1 (Y69C)	Single nucleotide variant (missense variant +2 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 2688694	NM_001321759.2(CDIN1):c.298G>T (p.Ala100Ser)	CDIN1 (A100S +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 2688693	NM_001321759.2(CDIN1):c.620G>A (p.Gly207Glu)	CDIN1 (G109E +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 2439610	NM_001321759.2(CDIN1):c.812C>A (p.Thr271Lys)	CDIN1 (T148K +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B +1 more	GUncertain significance
Select item 2067859	NM_001321759.2(CDIN1):c.98C>T (p.Pro33Leu)	CDIN1 (P33L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1192630	NM_001321759.2(CDIN1):c.477-55G>A	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1192629	NM_001321759.2(CDIN1):c.274-82T>A	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1183321	NM_001321759.2(CDIN1):c.476+33T>C	CDIN1	Single nucleotide variant (intron variant)	Congenital dyserythropoietic anemia type type 1B +1 more	GBenign
Select item 1181468	NM_001321759.2(CDIN1):c.-105C>T	CDIN1, LOC130056772	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 1174457	NM_001321759.2(CDIN1):c.273+82C>T	CDIN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 692136	NM_001321759.2(CDIN1):c.707A>G (p.Tyr236Cys)	CDIN1 (Y113C +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 692135	NM_001321759.2(CDIN1):c.689A>C (p.His230Pro)	CDIN1 (H107P +4 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GLikely pathogenic
Select item 692134	NM_001321759.2(CDIN1):c.281A>C (p.Tyr94Ser)	CDIN1 (Y57S +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B +1 more	GConflicting classifications of pathogenicity
Select item 692133	NM_001321759.2(CDIN1):c.59C>G (p.Pro20Arg)	CDIN1 (P20R)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GUncertain significance
Select item 257532	NM_001321759.2(CDIN1):c.217C>G (p.Leu73Val)	CDIN1 (L73V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 257531	NM_001321759.2(CDIN1):c.148-19G>T	CDIN1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 97058	NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys)	CDIN1 (Y94C +1 more)	Single nucleotide variant (missense variant +1 more)	Congenital dyserythropoietic anemia type type 1B	GLikely pathogenic
Select item 97057	NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln)	CDIN1 (L178Q +3 more)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia type type 1B	GLikely pathogenic