Related gene-specific medical variations for Gene (Select 132112) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2600009	NM_153708.3(RTP1):c.376C>T (p.Arg126Cys)	LOC101929106, RTP1 (R126C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511064	NM_153708.3(RTP1):c.506G>A (p.Arg169His)	LOC101929106, RTP1 (R169H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511063	NM_153708.3(RTP1):c.505C>G (p.Arg169Gly)	LOC101929106, RTP1 (R169G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2511062	NM_153708.3(RTP1):c.500G>A (p.Gly167Asp)	LOC101929106, RTP1 (G167D)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2487178	NM_153708.3(RTP1):c.542A>G (p.Gln181Arg)	LOC101929106, RTP1 (Q181R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2403878	NM_153708.3(RTP1):c.316G>C (p.Val106Leu)	LOC101929106, RTP1 (V106L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2393004	NM_153708.3(RTP1):c.422A>G (p.Asp141Gly)	RTP1, LOC101929106 (D141G)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2389015	NM_153708.3(RTP1):c.433A>C (p.Met145Leu)	RTP1, LOC101929106 (M145L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2385567	NM_153708.3(RTP1):c.29G>T (p.Arg10Leu)	RTP1, LOC101929106 (R10L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2363477	NM_153708.3(RTP1):c.103G>A (p.Glu35Lys)	LOC101929106, RTP1 (E35K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2341027	NM_153708.3(RTP1):c.371G>A (p.Arg124His)	RTP1, LOC101929106 (R124H)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2337468	NM_153708.3(RTP1):c.428C>T (p.Ser143Phe)	LOC101929106, RTP1 (S143F)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298356	NM_153708.3(RTP1):c.367G>A (p.Val123Met)	RTP1, LOC101929106 (V123M)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2276199	NM_153708.3(RTP1):c.434T>C (p.Met145Thr)	LOC101929106, RTP1 (M145T)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2235723	NM_153708.3(RTP1):c.455G>T (p.Gly152Val)	LOC101929106, RTP1 (G152V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2234873	NM_153708.3(RTP1):c.316G>T (p.Val106Leu)	RTP1, LOC101929106 (V106L)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2206162	NM_153708.3(RTP1):c.757A>G (p.Ile253Val)	RTP1, LOC101929106 (I253V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance