"Illumina Laboratory Services, Illumina"[submitter] AND "LOC130056931" - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 262378	NM_138477.4(CDAN1):c.477C>T (p.Pro159=)	CDAN1, LOC130056931	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 888409	NM_138477.4(CDAN1):c.392G>A (p.Arg131His)	CDAN1, LOC130056931 (R131H)	Single nucleotide variant (missense variant)	Congenital dyserythropoietic anemia, type I +1 more	GUncertain significance
Select item 21752	NM_138477.4(CDAN1):c.386G>A (p.Arg129His)	CDAN1, LOC130056931 (R129H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 888410	NM_138477.4(CDAN1):c.333C>T (p.Ala111=)	LOC130056931, CDAN1	Single nucleotide variant (synonymous variant)	Congenital dyserythropoietic anemia, type I +1 more	GConflicting classifications of pathogenicity
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 21751	NM_138477.4(CDAN1):c.320A>T (p.Gln107Leu)	CDAN1, LOC130056931 (Q107L)	Single nucleotide variant (missense variant)	Anemia, congenital dyserythropoietic, type 1a +3 more	GBenign
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 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 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 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 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