Related gene-specific medical variations for Gene (Select 23108) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3151504	NM_015085.5(RAP1GAP2):c.262T>C (p.Tyr88His)	LOC101927911, RAP1GAP2 (Y97H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556187	NM_015085.5(RAP1GAP2):c.343G>A (p.Glu115Lys)	LOC101927911, RAP1GAP2 (E156K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2404554	NM_015085.5(RAP1GAP2):c.362G>A (p.Gly121Asp)	LOC101927911, RAP1GAP2 (G162D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2395932	NM_015085.5(RAP1GAP2):c.547G>A (p.Val183Ile)	LOC101927911, RAP1GAP2 (V183I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2293753	NM_015085.5(RAP1GAP2):c.373T>C (p.Ser125Pro)	LOC101927911, RAP1GAP2 (S106P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2258048	NM_015085.5(RAP1GAP2):c.250G>A (p.Asp84Asn)	LOC101927911, RAP1GAP2 (D125N +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254702	NM_015085.5(RAP1GAP2):c.332G>A (p.Gly111Asp)	LOC101927911, RAP1GAP2 (G120D +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 393711	GRCh37/hg19 17p13.3(chr17:2901448-2940028)x4	RAP1GAP2	Copy number gain	See cases	GLikely benign