ClinVar for Gene (Select 6010) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3154046	NM_000539.3(RHO):c.650T>G (p.Ile217Ser)	RHO (I217S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3027582	NM_000539.3(RHO):c.948C>A (p.Cys316Ter)	RHO (C316*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3027581	NM_000539.3(RHO):c.918T>A (p.Tyr306Ter)	RHO (Y306*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3027580	NM_000539.3(RHO):c.869T>A (p.Ile290Asn)	RHO (I290N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GBenign
Select item 3027579	NM_000539.3(RHO):c.856A>G (p.Ile286Val)	RHO (I286V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027578	NM_000539.3(RHO):c.836A>C (p.Gln279Pro)	RHO (Q279P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027577	NM_000539.3(RHO):c.681C>T (p.Val227=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027576	NM_000539.3(RHO):c.578C>A (p.Thr193Lys)	RHO (T193K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027575	NM_000539.3(RHO):c.296T>C (p.Leu99Pro)	RHO (L99P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027574	NM_000539.3(RHO):c.282C>G (p.Thr94=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027573	NM_000539.3(RHO):c.273C>T (p.Phe91=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027572	NM_000539.3(RHO):c.226C>T (p.Leu76=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027571	NM_000539.3(RHO):c.177C>G (p.Leu59=)	RHO	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3027570	NM_000539.3(RHO):c.82C>G (p.Gln28Glu)	RHO (Q28E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027569	NM_000539.3(RHO):c.38T>C (p.Phe13Ser)	RHO (F13S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027568	NM_000539.3(RHO):c.11C>A (p.Thr4Lys)	RHO (T4K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3024160	NM_000539.3(RHO):c.67C>A (p.Pro23Thr)	RHO (P23T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 3012132	NM_000539.3(RHO):c.1014C>A (p.Ser338=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001925	NM_000539.3(RHO):c.936+12G>A	RHO	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2992213	NM_000539.3(RHO):c.696+12G>C	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989760	NM_000539.3(RHO):c.1014C>T (p.Ser338=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985361	NM_000539.3(RHO):c.758T>C (p.Met253Thr)	RHO (M253T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2984398	NM_000539.3(RHO):c.432C>T (p.Ser144=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976500	NM_000539.3(RHO):c.361+11G>T	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2972912	NM_000539.3(RHO):c.894C>T (p.Ala298=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2968306	NM_000539.3(RHO):c.361+9C>T	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968035	NM_000539.3(RHO):c.936+11C>T	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955178	NM_000539.3(RHO):c.128A>G (p.Tyr43Cys)	RHO (Y43C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2907822	NM_000539.3(RHO):c.810C>T (p.Ser270=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894558	NM_000539.3(RHO):c.450G>C (p.Glu150Asp)	RHO (E150D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2883612	NM_000539.3(RHO):c.121G>A (p.Ala41Thr)	RHO (A41T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872741	NM_000539.3(RHO):c.711G>T (p.Gln237His)	RHO (Q237H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2872399	NM_000539.3(RHO):c.318G>A (p.Gly106=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2862844	NM_000539.3(RHO):c.986G>A (p.Gly329Asp)	RHO (G329D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858897	NM_000539.3(RHO):c.536T>A (p.Ile179Asn)	RHO (I179N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858593	NM_000539.3(RHO):c.92T>C (p.Leu31Pro)	RHO (L31P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855878	NM_000539.3(RHO):c.999del (p.Ser334fs)	RHO (S334fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2831751	NM_000539.3(RHO):c.511C>A (p.Pro171Thr)	RHO (P171T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825828	NM_000539.3(RHO):c.546C>T (p.Gly182=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819750	NM_000539.3(RHO):c.380C>A (p.Ser127Tyr)	RHO (S127Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2819051	NM_000539.3(RHO):c.1011G>A (p.Val337=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818315	NM_000539.3(RHO):c.361+1G>A	RHO	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2811117	NM_000539.3(RHO):c.893C>T (p.Ala298Val)	RHO (A298V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798827	NM_000539.3(RHO):c.706C>A (p.Gln236Lys)	RHO (Q236K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2796858	NM_000539.3(RHO):c.1A>G (p.Met1Val)	RHO (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796366	NM_000539.3(RHO):c.683T>C (p.Phe228Ser)	RHO (F228S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783929	NM_000539.3(RHO):c.322A>G (p.Thr108Ala)	RHO (T108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2763334	NM_000539.3(RHO):c.362-11_362-10delinsAA	RHO	Indel (intron variant)	not provided	GUncertain significance
Select item 2758963	NM_000539.3(RHO):c.71T>C (p.Phe24Ser)	RHO (F24S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734568	NM_000539.3(RHO):c.995_1011del (p.Glu332fs)	RHO (E332fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2734567	NM_000539.3(RHO):c.937-1G>T	RHO	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2734566	NM_000539.3(RHO):c.937-1G>A	RHO	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2734565	NM_000539.3(RHO):c.865A>C (p.Thr289Pro)	RHO (T289P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2734563	NM_000539.3(RHO):c.556T>C (p.Ser186Pro)	RHO (S186P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2734560	NM_000539.3(RHO):c.302G>A (p.Gly101Glu)	RHO (G101E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2709423	NM_000539.3(RHO):c.66C>T (p.Ser22=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2707395	NM_000539.3(RHO):c.696+14G>C	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2696007	NM_000539.3(RHO):c.102A>G (p.Pro34=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694104	NM_000539.3(RHO):c.299A>C (p.His100Pro)	RHO (H100P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628072	NM_000539.3(RHO):c.329G>T (p.Cys110Phe)	RHO (C110F)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2628035	NM_000539.3(RHO):c.489G>A (p.Met163Ile)	RHO (M163I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 2628032	NM_000539.3(RHO):c.400G>A (p.Glu134Lys)	RHO (E134K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 2613338	NM_000539.3(RHO):c.991G>C (p.Asp331His)	RHO (D331H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2578949	NM_000539.3(RHO):c.259G>T (p.Val87Phe)	RHO (V87F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2571185	NM_000539.3(RHO):c.505G>C (p.Ala169Pro)	RHO (A169P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2501809	NM_000539.3(RHO):c.888G>T (p.Lys296Asn)	RHO (K296N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GLikely pathogenic
Select item 2446296	NM_000539.3(RHO):c.443T>C (p.Phe148Ser)	RHO (F148S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	GUncertain significance
Select item 2257915	NM_000539.3(RHO):c.739G>A (p.Glu247Lys)	RHO (E247K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2203439	NM_000539.3(RHO):c.1039C>G (p.Pro347Ala)	RHO (P347A)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2203437	NM_000539.3(RHO):c.659T>G (p.Phe220Cys)	RHO (F220C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203435	NM_000539.3(RHO):c.641T>A (p.Ile214Asn)	RHO (I214N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2203433	NM_000539.3(RHO):c.531-2A>G	RHO	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2203432	NM_000539.3(RHO):c.374T>G (p.Leu125Arg)	RHO (L125R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2203431	NM_000539.3(RHO):c.233A>T (p.Asn78Ile)	RHO (N78I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2199679	NM_000539.3(RHO):c.1026G>C (p.Thr342=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2194013	NM_000539.3(RHO):c.319C>T (p.Pro107Ser)	RHO (P107S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2185171	NM_000539.3(RHO):c.846C>T (p.Asn282=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2183226	NM_000539.3(RHO):c.687C>T (p.Thr229=)	RHO	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2172293	NM_000539.3(RHO):c.594C>G (p.Val198=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2169110	NM_000539.3(RHO):c.831C>A (p.Thr277=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2131551	NM_000539.3(RHO):c.816A>T (p.Ala272=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129137	NM_000539.3(RHO):c.937-27_937-19del	RHO	Deletion (intron variant)	not provided	GUncertain significance
Select item 2126064	NM_000539.3(RHO):c.585G>A (p.Lys195=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2124182	NM_000539.3(RHO):c.43A>G (p.Asn15Asp)	RHO (N15D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121824	NM_000539.3(RHO):c.364G>T (p.Glu122Ter)	RHO (E122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2118983	NM_000539.3(RHO):c.1012_*11del (p.Ser338fs)	RHO (S338fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2117123	NM_000539.3(RHO):c.961A>G (p.Ile321Val)	RHO (I321V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115276	NM_000539.3(RHO):c.99G>C (p.Glu33Asp)	RHO (E33D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2109603	NM_000539.3(RHO):c.355C>G (p.Leu119Val)	RHO (L119V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2105444	NM_000539.3(RHO):c.115A>G (p.Met39Val)	RHO (M39V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2101739	NM_000539.3(RHO):c.27C>T (p.Phe9=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2098210	NM_000539.3(RHO):c.502G>C (p.Ala168Pro)	RHO (A168P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2074594	NM_000539.3(RHO):c.51G>A (p.Thr17=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2068434	NM_000539.3(RHO):c.697-19C>G	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2060322	NM_000539.3(RHO):c.889A>C (p.Ser297Arg)	RHO (S297R)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2060137	NM_000539.3(RHO):c.330C>G (p.Cys110Trp)	RHO (C110W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2056218	NM_000539.3(RHO):c.714G>T (p.Gln238His)	RHO (Q238H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040483	NM_000539.3(RHO):c.530+17G>A	RHO	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038203	NM_000539.3(RHO):c.617A>C (p.Tyr206Ser)	RHO (Y206S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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