RPAIN[gene] and "single gene"[properties] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3155912	NM_001033002.4(RPAIN):c.26G>C (p.Arg9Pro)	RPAIN (R9P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315119	NM_001033002.4(RPAIN):c.28C>T (p.Arg10Cys)	RPAIN (R10C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315120	NM_001033002.4(RPAIN):c.221C>T (p.Ser74Leu)	RPAIN (S74L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315118	NM_001033002.4(RPAIN):c.277G>A (p.Val93Met)	RPAIN (V93M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363873	NM_001033002.4(RPAIN):c.422C>A (p.Thr141Lys)	RPAIN (T141K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 780394	NM_001033002.4(RPAIN):c.445A>G (p.Ser149Gly)	RPAIN (S149G)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 3315122	NM_001033002.4(RPAIN):c.470G>A (p.Gly157Asp)	RPAIN (G157D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2627106	NM_001033002.4(RPAIN):c.490-6T>C	RPAIN	Single nucleotide variant (intron variant)	See cases	GUncertain significance
Select item 2315389	NM_001033002.4(RPAIN):c.529G>C (p.Glu177Gln)	RPAIN (E177Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2492140	NM_001033002.4(RPAIN):c.549C>A (p.His183Gln)	RPAIN (H183Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2334588	NM_001033002.4(RPAIN):c.566A>G (p.His189Arg)	RPAIN (H189R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2398933	NM_001033002.4(RPAIN):c.587C>T (p.Thr196Ile)	RPAIN (T196I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2206820	NM_001033002.4(RPAIN):c.598G>A (p.Glu200Lys)	RPAIN (E200K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2601987	NM_001033002.4(RPAIN):c.620T>G (p.Met207Arg)	RPAIN (M207R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3155913	NM_001033002.4(RPAIN):c.630+4A>G	RPAIN (S212G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2602020	NM_001033002.4(RPAIN):c.630+6C>T	RPAIN	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign