ClinVar for MedGen (Select 356743) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340512	NM_203288.2(RP9):c.484_485del (p.Gln162fs)	RP9 (Q162fs)	Deletion (frameshift variant)	Retinitis pigmentosa 9	GLikely pathogenic
Select item 3066364	NM_203288.2(RP9):c.5C>A (p.Ser2Ter)	LOC129998225, RP9 (S2*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 9	GLikely pathogenic
Select item 1327968	NM_203288.2(RP9):c.313+44T>A	RP9	Single nucleotide variant (intron variant)	Retinitis pigmentosa 9	GBenign
Select item 912074	NM_203288.2(RP9):c.32G>A (p.Gly11Glu)	LOC129998225, RP9 (G11E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 360045	NM_203288.2(RP9):c.314-9C>T	RP9	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GBenign
Select item 198295	NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)	RP9	Deletion (frameshift variant +1 more)	Retinitis Pigmentosa, Dominant +3 more	GBenign/Likely benign
Select item 167609	NM_203288.2(RP9):c.629A>G (p.Lys210Arg)	RP9 (K210R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GBenign
Select item 3335	NM_203288.2(RP9):c.509A>G (p.Asp170Gly)	RP9 (D170G)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 3334	NM_203288.2(RP9):c.410A>T (p.His137Leu)	RP9 (H137L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 9	GUncertain significance

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