"DDB1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2631722	NM_001923.5(DDB1):c.3074A>G (p.Gln1025Arg)	DDB1 (Q1025R)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 3036666	NM_001923.5(DDB1):c.2662-3C>A	DDB1	Single nucleotide variant (intron variant)	DDB1-related disorder	GLikely benign
Select item 2632814	NM_001923.5(DDB1):c.2195G>T (p.Cys732Phe)	DDB1 (C732F)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 3054031	NM_001923.5(DDB1):c.2069+5G>A	DDB1	Single nucleotide variant (intron variant)	DDB1-related disorder	GLikely benign
Select item 2631278	NM_001923.5(DDB1):c.1034C>T (p.Ser345Phe)	DDB1 (S345F)	Single nucleotide variant (missense variant)	DDB1-related disorder	GUncertain significance
Select item 3053257	NM_001923.5(DDB1):c.74C>T (p.Ser25Leu)	DDB1 (S25L)	Single nucleotide variant (missense variant)	DDB1-related disorder	GLikely benign

ClinVar