ClinVar for MedGen (Select 355852) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707636	NM_000539.3(RHO):c.194_205del (p.His65_Leu68del)	RHO	Deletion (inframe_deletion)	Congenital stationary night blindness autosomal dominant 1	GUncertain significance
Select item 984781	NM_000539.3(RHO):c.362G>T (p.Gly121Val)	RHO (G121V)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GLikely pathogenic
Select item 984767	NM_000539.3(RHO):c.806C>A (p.Ala269Asp)	RHO (A269D)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1	GUncertain significance
Select item 976629	NM_000539.3(RHO):c.*959A>G	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 903111	NM_000539.3(RHO):c.*551G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 903110	NM_000539.3(RHO):c.*542G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 903052	NM_000539.3(RHO):c.*26C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 902235	NM_000539.3(RHO):c.*406G>C	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 902170	NM_000539.3(RHO):c.948C>T (p.Cys316=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 902169	NM_000539.3(RHO):c.847T>C (p.Phe283Leu)	RHO (F283L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 902118	NM_000539.3(RHO):c.440G>A (p.Arg147His)	RHO (R147H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 902117	NM_000539.3(RHO):c.399C>A (p.Ile133=)	RHO	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900699	NM_000539.3(RHO):c.*1454G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 900698	NM_000539.3(RHO):c.*1294A>G	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 900623	NM_000539.3(RHO):c.*815G>T	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 900553	NM_000539.3(RHO):c.*285G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 900513	NM_000539.3(RHO):c.754C>T (p.Arg252Cys)	RHO (R252C)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 900512	NM_000539.3(RHO):c.744G>A (p.Lys248=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 900511	NM_000539.3(RHO):c.732G>A (p.Gln244=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 900454	NM_000539.3(RHO):c.361+10G>A	RHO	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 900453	NM_000539.3(RHO):c.205C>T (p.Arg69Cys)	RHO (R69C)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 900393	NM_000539.3(RHO):c.87C>T (p.Tyr29=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 900392	NM_000539.3(RHO):c.62G>A (p.Arg21His)	RHO (R21H)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 900391	NM_000539.3(RHO):c.-24G>T	RHO	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 899558	NM_000539.3(RHO):c.*1278G>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign
Select item 899557	NM_000539.3(RHO):c.*1179T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 899491	NM_000539.3(RHO):c.*679A>G	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 899490	NM_000539.3(RHO):c.*670A>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 899489	NM_000539.3(RHO):c.*573C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 899390	NM_000539.3(RHO):c.704C>A (p.Ala235Asp)	RHO (A235D)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 899389	NM_000539.3(RHO):c.697-11G>A	RHO	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 899388	NM_000539.3(RHO):c.630C>T (p.Val210=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 867081	NM_000539.3(RHO):c.328T>C (p.Cys110Arg)	RHO (C110R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GPathogenic
Select item 867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO (Q184R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 865880	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	RHO (M216K)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 861995	NM_000539.3(RHO):c.962T>A (p.Ile321Asn)	RHO (I321N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 860981	NM_000539.3(RHO):c.310G>A (p.Val104Ile)	RHO (V104I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 737420	NM_000539.3(RHO):c.519C>T (p.Ala173=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GBenign/Likely benign
Select item 632397	NM_000539.3(RHO):c.1025C>T (p.Thr342Met)	RHO (T342M)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GConflicting classifications of pathogenicity
Select item 417867	NM_000539.3(RHO):c.491C>T (p.Ala164Val)	RHO (A164V)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 343312	NM_000539.3(RHO):c.*1601C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign
Select item 343311	NM_000539.3(RHO):c.*1599G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 343310	NM_000539.3(RHO):c.*1455T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343309	NM_000539.3(RHO):c.*1255T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343308	NM_000539.3(RHO):c.*1200T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign/Likely benign
Select item 343307	NM_000539.3(RHO):c.*1144C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343306	NM_000539.3(RHO):c.*1099G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign
Select item 343305	NM_000539.3(RHO):c.*970C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343304	NM_000539.3(RHO):c.*948T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343303	NM_000539.3(RHO):c.*925T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign
Select item 343302	NM_000539.3(RHO):c.*912A>G	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign
Select item 343301	NM_000539.3(RHO):c.*887G>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343300	NM_000539.3(RHO):c.*838A>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343299	NM_000539.3(RHO):c.*741T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343297	NM_000539.3(RHO):c.*645G>C	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343296	NM_000539.3(RHO):c.*633G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343295	NM_000539.3(RHO):c.*488T>C	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 343294	NM_000539.3(RHO):c.*467A>G	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GBenign/Likely benign
Select item 343293	NM_000539.3(RHO):c.*440C>G	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343292	NM_000539.3(RHO):c.*313C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 343291	NM_000539.3(RHO):c.*276C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343290	NM_000539.3(RHO):c.*232A>G	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign
Select item 343289	NM_000539.3(RHO):c.*224C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343288	NM_000539.3(RHO):c.*205C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +1 more	GBenign/Likely benign
Select item 343285	NM_000539.3(RHO):c.*115G>A	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343284	NM_000539.3(RHO):c.*40C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343283	NM_000539.3(RHO):c.969C>T (p.Cys323=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 343282	NM_000539.3(RHO):c.959C>A (p.Thr320Asn)	RHO (T320N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 343281	NM_000539.3(RHO):c.696+12G>A	RHO	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 343280	NM_000539.3(RHO):c.624C>T (p.Phe208=)	RHO	Single nucleotide variant (synonymous variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GLikely benign
Select item 343279	NM_000539.3(RHO):c.614T>G (p.Ile205Ser)	RHO (I205S)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +1 more	GUncertain significance
Select item 343278	NM_000539.3(RHO):c.586C>A (p.Pro196Thr)	RHO (P196T)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +3 more	GUncertain significance
Select item 343277	NM_000539.3(RHO):c.480C>A (p.Thr160=)	RHO	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 343276	NM_000539.3(RHO):c.381C>G (p.Ser127=)	RHO	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 343274	NM_000539.3(RHO):c.152G>C (p.Gly51Ala)	RHO (G51A)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 343273	NM_000539.3(RHO):c.48G>A (p.Ala16=)	RHO	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 343272	NM_000539.3(RHO):c.-51G>A	RHO	Single nucleotide variant (5 prime UTR variant)	Congenital stationary night blindness autosomal dominant 1 +2 more	GBenign
Select item 256384	NM_000539.3(RHO):c.696+4C>T	RHO	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 256383	NM_000539.3(RHO):c.-26A>G	RHO	Single nucleotide variant (5 prime UTR variant)	not provided +5 more	GBenign
Select item 256382	NM_000539.3(RHO):c.*43C>A	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +5 more	GBenign
Select item 256381	NM_000539.3(RHO):c.*33C>T	RHO	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa +2 more	GBenign/Likely benign
Select item 193112	NM_000539.3(RHO):c.360C>T (p.Gly120=)	RHO	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 143082	NM_000539.3(RHO):c.891C>T (p.Ser297=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign/Likely benign
Select item 13054	NM_000539.3(RHO):c.281C>T (p.Thr94Ile)	RHO (T94I)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1	GLikely pathogenic
Select item 13045	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	RHO (G90D)	Single nucleotide variant (missense variant)	Pigmentary retinal dystrophy +1 more	GPathogenic
Select item 13044	NM_000539.3(RHO):c.875C>A (p.Ala292Glu)	RHO (A292E)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1	GPathogenic
Select item 13013	NM_000539.3(RHO):c.68C>A (p.Pro23His)	RHO (P23H)	Single nucleotide variant (missense variant)	Congenital stationary night blindness autosomal dominant 1 +4 more	GPathogenic

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Items: 87