ClinVar for Gene (Select 23418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064718	NM_201253.3(CRB1):c.1421G>A (p.Gly474Asp)	CRB1 (G362D +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3036804	NM_201253.3(CRB1):c.1071G>C (p.Leu357=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	CRB1-related condition	GLikely benign
Select item 3028516	NM_201253.3(CRB1):c.3710C>T (p.Ser1237Phe)	CRB1 (S1125F +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028505	NM_201253.3(CRB1):c.3652T>G (p.Cys1218Gly)	CRB1 (C1106G +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028489	NM_201253.3(CRB1):c.3146C>G (p.Ser1049Cys)	CRB1 (S1025C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028485	NM_201253.3(CRB1):c.3080A>T (p.Gln1027Leu)	CRB1 (Q1003L +2 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028482	NM_201253.3(CRB1):c.3068T>G (p.Leu1023Arg)	CRB1 (L1023R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028480	NM_201253.3(CRB1):c.2972A>T (p.His991Leu)	CRB1 (H879L +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028474	NM_201253.3(CRB1):c.2843G>C (p.Cys948Ser)	CRB1 (C836S +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028454	NM_201253.3(CRB1):c.2711C>G (p.Ser904Cys)	CRB1 (S792C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028447	NM_201253.3(CRB1):c.2677-446T>C	CRB1	Single nucleotide variant (intron variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028443	NM_201253.3(CRB1):c.2677-471A>G	CRB1 (Q825R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028438	NM_201253.3(CRB1):c.2598A>C (p.Pro866=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028426	NM_201253.3(CRB1):c.2363T>C (p.Leu788Pro)	CRB1 (L676P +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028415	NM_201253.3(CRB1):c.2236C>G (p.Leu746Val)	CRB1 (L634V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028405	NM_201253.3(CRB1):c.2209A>G (p.Ile737Val)	CRB1 (I625V +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 3028384	NM_201253.3(CRB1):c.1729G>A (p.Ala577Thr)	CRB1 (A465T +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028377	NM_201253.3(CRB1):c.1689del (p.Ser563fs)	CRB1 (S451fs +2 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028374	NM_201253.3(CRB1):c.1672A>T (p.Ile558Phe)	CRB1 (I446F +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028368	NM_201253.3(CRB1):c.1656A>G (p.Ser552=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028357	NM_201253.3(CRB1):c.1319A>T (p.Asp440Val)	CRB1 (D328V +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028352	NM_201253.3(CRB1):c.1253del (p.Asn418fs)	CRB1 (N306fs +2 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028348	NM_201253.3(CRB1):c.1225G>A (p.Gly409Ser)	CRB1 (G297S +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028317	NM_201253.3(CRB1):c.586A>G (p.Lys196Glu)	CRB1 (K127E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028313	NM_201253.3(CRB1):c.434G>C (p.Cys145Ser)	CRB1 (C145S +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028312	NM_201253.3(CRB1):c.329C>T (p.Thr110Ile)	CRB1 (T110I +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028310	NM_201253.3(CRB1):c.278G>C (p.Ser93Thr)	CRB1 (S24T +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028304	NM_201253.3(CRB1):c.145dup (p.Ser49fs)	CRB1 (S49fs)	Duplication (frameshift variant +2 more)	Retinal dystrophy	GPathogenic
Select item 3028298	NM_201253.3(CRB1):c.84dup (p.Lys29Ter)	CRB1 (K29*)	Duplication (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028292	NM_201253.3(CRB1):c.-2C>G	CRB1	Single nucleotide variant (5 prime UTR variant +2 more)	Retinal dystrophy	GUncertain significance
Select item 2954495	NM_201253.3(CRB1):c.2961A>G (p.Val987=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2954108	NM_201253.3(CRB1):c.1782del (p.Ala595fs)	CRB1 (A595fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2954058	NM_201253.3(CRB1):c.652+17C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2954007	NM_201253.3(CRB1):c.345C>G (p.Gly115=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953934	NM_201253.3(CRB1):c.4006-11A>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953793	NM_201253.3(CRB1):c.2129-1G>T	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2953637	NM_201253.3(CRB1):c.3950del (p.Asn1317fs)	CRB1 (N1205fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2953210	NM_201253.3(CRB1):c.988+17C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953194	NM_201253.3(CRB1):c.2843-5A>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2953188	NM_201253.3(CRB1):c.1244T>A (p.Leu415Ter)	CRB1 (L346* +2 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952943	NM_201253.3(CRB1):c.198C>T (p.Asp66=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952923	NM_201253.3(CRB1):c.1172-8T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952692	NM_201253.3(CRB1):c.70+13C>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952686	NM_201253.3(CRB1):c.570T>A (p.Cys190Ter)	CRB1 (C190* +1 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952616	NM_201253.3(CRB1):c.249C>T (p.Ala83=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952452	NM_201253.3(CRB1):c.1074C>A (p.Ser358=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952282	NM_201253.3(CRB1):c.2297G>A (p.Trp766Ter)	CRB1 (W654* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952266	NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)	CRB1	Duplication (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2952231	NM_201253.3(CRB1):c.2814G>A (p.Gln938=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2952042	NM_201253.3(CRB1):c.652+14T>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951952	NM_201253.3(CRB1):c.3495T>A (p.Cys1165Ter)	CRB1 (C1141* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2951913	NM_201253.3(CRB1):c.2904dup (p.Ile969fs)	CRB1 (I969fs +2 more)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2951687	NM_201253.3(CRB1):c.652+20A>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951586	NM_201253.3(CRB1):c.1408C>T (p.Leu470=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951295	NM_201253.3(CRB1):c.2205C>T (p.Asp735=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951242	NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951234	NM_201253.3(CRB1):c.981C>T (p.Cys327=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951232	NM_201253.3(CRB1):c.2543del (p.Phe848fs)	CRB1 (F736fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2951170	NM_201253.3(CRB1):c.477T>C (p.Asn159=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2951101	NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950994	NM_201253.3(CRB1):c.1171+8C>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950864	NM_201253.3(CRB1):c.1665T>C (p.Leu555=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950847	NM_201253.3(CRB1):c.1929C>T (p.Leu643=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950712	NM_201253.3(CRB1):c.3411T>C (p.Cys1137=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950593	NM_201253.3(CRB1):c.873T>C (p.Ser291=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950582	NM_201253.3(CRB1):c.1593G>A (p.Val531=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2950516	NM_201253.3(CRB1):c.3914C>G (p.Pro1305Arg)	CRB1 (P1281R +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 2950072	NM_201253.3(CRB1):c.3189C>T (p.Thr1063=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949996	NM_201253.3(CRB1):c.2190T>C (p.Asp730=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949995	NM_201253.3(CRB1):c.2587G>T (p.Glu863Ter)	CRB1 (E794* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2949904	NM_201253.3(CRB1):c.954C>T (p.Asp318=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949768	NM_201253.3(CRB1):c.413C>A (p.Ala138Asp)	CRB1 (A138D +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2949683	NM_201253.3(CRB1):c.3936C>T (p.Cys1312=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949679	NM_201253.3(CRB1):c.2382C>T (p.His794=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949617	NM_201253.3(CRB1):c.4101T>C (p.Val1367=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949518	NM_201253.3(CRB1):c.4164C>T (p.Gly1388=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2949412	NM_201253.3(CRB1):c.1879C>T (p.Leu627=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2948977	NM_201253.3(CRB1):c.3762del (p.Leu1254fs)	CRB1 (L1142fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2948686	NM_201253.3(CRB1):c.3837_3838del (p.Glu1280fs)	CRB1 (E1280fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2948678	NM_201253.3(CRB1):c.3348C>T (p.Phe1116=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2948645	NM_201253.3(CRB1):c.2036A>C (p.Gln679Pro)	CRB1 (Q679P +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2948332	NM_201253.3(CRB1):c.396T>C (p.Pro132=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947955	NM_201253.3(CRB1):c.2129-5T>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947916	NM_201253.3(CRB1):c.1326C>T (p.Leu442=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947621	NM_201253.3(CRB1):c.948T>C (p.Cys316=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947402	NM_201253.3(CRB1):c.174C>T (p.Asp58=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947238	NM_201253.3(CRB1):c.652+14T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947236	NM_201253.3(CRB1):c.3878+7C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947048	NM_201253.3(CRB1):c.3749+17T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2947023	NM_201253.3(CRB1):c.3749+15C>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946870	NM_201253.3(CRB1):c.652+18_652+19del	CRB1	Deletion (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946762	NM_201253.3(CRB1):c.408C>T (p.Cys136=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946688	NM_201253.3(CRB1):c.786C>T (p.Asn262=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2946614	NM_201253.3(CRB1):c.909T>C (p.Pro303=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign

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