RSRP1[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2557579	NM_020317.5(RSRP1):c.812C>T (p.Ser271Phe)	RSRP1 (S271F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247390	NM_020317.5(RSRP1):c.739A>G (p.Ile247Val)	RSRP1 (I247V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315595	NM_020317.5(RSRP1):c.735A>C (p.Arg245Ser)	RSRP1 (R245S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156786	NM_020317.5(RSRP1):c.652A>T (p.Ser218Cys)	RSRP1 (S218C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2592726	NM_020317.5(RSRP1):c.634C>T (p.Arg212Cys)	RSRP1 (R212C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2485622	NM_020317.5(RSRP1):c.524G>A (p.Arg175Gln)	RSRP1 (R175Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2398634	NM_020317.5(RSRP1):c.403C>G (p.Arg135Gly)	RSRP1 (R135G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315597	NM_020317.5(RSRP1):c.356C>T (p.Ser119Leu)	RSRP1 (S119L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544166	NM_020317.5(RSRP1):c.314A>G (p.Tyr105Cys)	RSRP1 (Y105C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315598	NM_020317.5(RSRP1):c.295G>A (p.Gly99Arg)	RSRP1 (G99R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3315596	NM_020317.5(RSRP1):c.245C>T (p.Ser82Leu)	RSRP1 (S82L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3156785	NM_020317.5(RSRP1):c.193C>G (p.Arg65Gly)	RSRP1 (R65G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542714	NM_020317.5(RSRP1):c.130C>T (p.Arg44Trp)	RSRP1 (R44W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523150	NM_020317.5(RSRP1):c.22A>T (p.Met8Leu)	RSRP1 (M8L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign