Related gene-specific medical variations for Gene (Select 9980) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2688969	NM_001320714.2(DOP1B):c.1029A>G (p.Ile343Met)	DOP1B (I343M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 983340	NM_001320714.2(DOP1B):c.4153G>A (p.Glu1385Lys)	DOP1B (E1385K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 688058	GRCh37/hg19 21q22.12(chr21:37611891-37653828)x1	DOP1B	Copy number loss	not provided	GUncertain significance

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