RPRD1A[gene] and "single gene"[properties] - ClinVar - NCBI

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

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2284081	NM_018170.5(RPRD1A):c.902A>G (p.His301Arg)	RPRD1A (H301R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156163	NM_018170.5(RPRD1A):c.800G>A (p.Arg267His)	RPRD1A (R267H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315265	NM_018170.5(RPRD1A):c.779A>G (p.His260Arg)	RPRD1A (H260R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315267	NM_018170.5(RPRD1A):c.752A>G (p.Gln251Arg)	RPRD1A (Q215R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156162	NM_018170.5(RPRD1A):c.514G>T (p.Asp172Tyr)	RPRD1A (D172Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269052	NM_018170.5(RPRD1A):c.449A>G (p.Asn150Ser)	RPRD1A (N150S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315266	NM_018170.5(RPRD1A):c.398A>G (p.Lys133Arg)	RPRD1A (K133R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156161	NM_018170.5(RPRD1A):c.280A>G (p.Ser94Gly)	RPRD1A (S58G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156159	NM_018170.5(RPRD1A):c.145C>T (p.Arg49Trp)	RPRD1A (R49W)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3156160	NM_018170.5(RPRD1A):c.20C>T (p.Ala7Val)	RPRD1A (A7V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance