"GeneDx"[submitter] AND "RAP1GDS1"[gene] - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151714	GRCh38/hg38 4q22.1-24(chr4:92610413-101521991)x1	LOC129992850, LOC129992851 +123 more	Copy number loss	See cases	GPathogenic
Select item 58033	GRCh38/hg38 4q22.3-28.3(chr4:96092893-136410207)x3	ABHD18, ADAD1 +661 more	Copy number gain	See cases	GPathogenic
Select item 1712885	NM_001100427.2(RAP1GDS1):c.350G>A (p.Cys117Tyr)	RAP1GDS1 (C117Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504929	NM_001100427.2(RAP1GDS1):c.1158A>C (p.Arg386Ser)	RAP1GDS1 (R295S +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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