"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3249811	NM_000539.3(RHO):c.10A>C (p.Thr4Pro)	RHO (T4P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3248870	NM_000539.3(RHO):c.26T>G (p.Phe9Cys)	RHO (F9C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 13042	NM_000539.3(RHO):c.44A>G (p.Asn15Ser)	RHO (N15S)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13018	NM_000539.3(RHO):c.50C>T (p.Thr17Met)	RHO (T17M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 1071889	NM_000539.3(RHO):c.68C>T (p.Pro23Leu)	RHO (P23L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
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 437998	NM_000539.3(RHO):c.83A>G (p.Gln28Arg)	RHO (Q28R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1384759	NM_000539.3(RHO):c.124G>A (p.Ala42Thr)	RHO (A42T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3248953	NM_000539.3(RHO):c.130A>G (p.Met44Val)	RHO (M44V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248691	NM_000539.3(RHO):c.140T>G (p.Leu47Arg)	RHO (L47R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 13016	NM_000539.3(RHO):c.173C>G (p.Thr58Arg)	RHO (T58R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 625298	NM_000539.3(RHO):c.178T>C (p.Tyr60His)	RHO (Y60H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 143079	NM_000539.3(RHO):c.180C>A (p.Tyr60Ter)	RHO (Y60*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3249368	NM_000539.3(RHO):c.181G>T (p.Val61Phe)	RHO (V61F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249045	NM_000539.3(RHO):c.182T>A (p.Val61Asp)	RHO (V61D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 91402	NM_000539.3(RHO):c.217_219del (p.Asn73del)	RHO (N73del)	Deletion (inframe_deletion)	Retinal dystrophy	GLikely pathogenic
Select item 3248967	NM_000539.3(RHO):c.219_220delinsATACATCCTGCTCAACC (p.Asn73_Tyr74delinsLysTyrIleLeuLeuAsnHis)	RHO	Indel (inframe_indel)	Retinal dystrophy	GUncertain significance
Select item 13021	NM_000539.3(RHO):c.266G>A (p.Gly89Asp)	RHO (G89D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic
Select item 13045	NM_000539.3(RHO):c.269G>A (p.Gly90Asp)	RHO (G90D)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic
Select item 984778	NM_000539.3(RHO):c.284T>C (p.Leu95Pro)	RHO (L95P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GConflicting classifications of pathogenicity
Select item 13038	NM_000539.3(RHO):c.316G>A (p.Gly106Arg)	RHO (G106R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +3 more	GPathogenic/Likely pathogenic
Select item 1451122	NM_000539.3(RHO):c.337G>A (p.Glu113Lys)	RHO (E113K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
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 3249035	NM_000539.3(RHO):c.376T>G (p.Trp126Gly)	RHO (W126G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 493373	NM_000539.3(RHO):c.392T>C (p.Leu131Pro)	RHO (L131P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 13028	NM_000539.3(RHO):c.403C>T (p.Arg135Trp)	RHO (R135W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 13046	NM_000539.3(RHO):c.448G>A (p.Glu150Lys)	RHO (E150K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 3250325	NM_000539.3(RHO):c.485T>A (p.Val162Asp)	RHO (V162D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 13049	NM_000539.3(RHO):c.491C>A (p.Ala164Glu)	RHO (A164E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 3248841	NM_000539.3(RHO):c.503C>T (p.Ala168Val)	RHO (A168V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1015789	NM_000539.3(RHO):c.505G>A (p.Ala169Thr)	RHO (A169T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 13050	NM_000539.3(RHO):c.511C>T (p.Pro171Ser)	RHO (P171S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 964188	NM_000539.3(RHO):c.517G>A (p.Ala173Thr)	RHO (A173T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 143080	NM_000539.3(RHO):c.520G>A (p.Gly174Ser)	RHO (G174S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3248982	NM_000539.3(RHO):c.527C>G (p.Ser176Cys)	RHO (S176C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 425310	NM_000539.3(RHO):c.530+5T>C	RHO	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 13025	NM_000539.3(RHO):c.533A>G (p.Tyr178Cys)	RHO (Y178C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865884	NM_000539.3(RHO):c.538C>G (p.Pro180Ala)	RHO (P180A)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1060030	NM_000539.3(RHO):c.539C>G (p.Pro180Arg)	RHO (P180R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 196282	NM_000539.3(RHO):c.541G>A (p.Glu181Lys)	RHO (E181K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 867026	NM_000539.3(RHO):c.551A>G (p.Gln184Arg)	RHO (Q184R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1297108	NM_000539.3(RHO):c.568G>C (p.Asp190His)	RHO (D190H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 13023	NM_000539.3(RHO):c.568G>A (p.Asp190Asn)	RHO (D190N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 3249246	NM_000539.3(RHO):c.569A>T (p.Asp190Val)	RHO (D190V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 1965801	NM_000539.3(RHO):c.595AAC[1] (p.Asn200del)	RHO (N200del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 853825	NM_000539.3(RHO):c.625G>A (p.Val209Met)	RHO (V209M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 870955	NM_000539.3(RHO):c.644C>T (p.Pro215Leu)	RHO (P215L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 865880	NM_000539.3(RHO):c.647T>A (p.Met216Lys)	RHO (M216K)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1350685	NM_000539.3(RHO):c.660T>G (p.Phe220Leu)	RHO (F220L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3249053	NM_000539.3(RHO):c.706C>T (p.Gln236Ter)	RHO (Q236*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3250108	NM_000539.3(RHO):c.713A>G (p.Gln238Arg)	RHO (Q238R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 624227	NM_000539.3(RHO):c.755G>C (p.Arg252Pro)	RHO (R252P)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 594435	NM_000539.3(RHO):c.759G>T (p.Met253Ile)	RHO (M253I)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 497286	NM_000539.3(RHO):c.762CAT[2] (p.Ile256del)	RHO (I256del)	Microsatellite (inframe_deletion)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3250230	NM_000539.3(RHO):c.854C>G (p.Pro285Arg)	RHO (P285R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 984768	NM_000539.3(RHO):c.886A>C (p.Lys296Gln)	RHO (K296Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4	GLikely pathogenic
Select item 955802	NM_000539.3(RHO):c.888G>C (p.Lys296Asn)	RHO (K296N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1629915	NM_000539.3(RHO):c.933G>A (p.Lys311=)	RHO	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 802007	NM_000539.3(RHO):c.937-2A>T	RHO	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2734567	NM_000539.3(RHO):c.937-1G>T	RHO	Single nucleotide variant (splice acceptor variant)	Retinal dystrophy +1 more	GPathogenic
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 3248997	NM_000539.3(RHO):c.968G>T (p.Cys323Phe)	RHO (C323F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249773	NM_000539.3(RHO):c.999dup (p.Ser334fs)	RHO (S334fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249651	NM_000539.3(RHO):c.1003del (p.Ala335fs)	RHO (A335fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 937741	NM_000539.3(RHO):c.1019C>T (p.Thr340Met)	RHO (T340M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3250191	NM_000539.3(RHO):c.1021_1028del (p.Glu341fs)	RHO (E341fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3249805	NM_000539.3(RHO):c.1030_1031del (p.Gln344fs)	RHO (Q344fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 13029	NM_000539.3(RHO):c.1030C>T (p.Gln344Ter)	RHO (Q344*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 13056	NM_000539.3(RHO):c.1033G>A (p.Val345Met)	RHO (V345M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +2 more	GPathogenic/Likely pathogenic
Select item 3248833	NM_000539.3(RHO):c.1034T>G (p.Val345Gly)	RHO (V345G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 3248806	NM_000539.3(RHO):c.1037C>A (p.Ala346Asp)	RHO (A346D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 13014	NM_000539.3(RHO):c.1040C>T (p.Pro347Leu)	RHO (P347L)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 4 +7 more	GPathogenic/Likely pathogenic

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Items: 72