"SIB Swiss Institute of Bioinformatics"[submitter] AND "CDIN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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
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 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

ClinVar