ClinVar for Gene (Select 23418) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382183	NM_201253.3(CRB1):c.1478del (p.Phe493fs)	CRB1 (F381fs +2 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3382182	NM_201253.3(CRB1):c.3326_3329del (p.Tyr1109fs)	CRB1 (Y1085fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3381788	NM_201253.3(CRB1):c.266del (p.Pro89fs)	CRB1 (P20fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GPathogenic
Select item 3381787	NM_201253.3(CRB1):c.255T>A (p.Cys85Ter)	CRB1 (C16* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3377432	NM_201253.3(CRB1):c.1267T>G (p.Cys423Gly)	CRB1 (C311G +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 3367886	NM_201253.3(CRB1):c.952G>C (p.Asp318His)	CRB1 (D249H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3366777	NM_201253.3(CRB1):c.3394T>C (p.Ser1132Pro)	CRB1 (S1020P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3339812	NM_201253.3(CRB1):c.980G>T (p.Cys327Phe)	CRB1 (C258F +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3339460	NM_201253.3(CRB1):c.776G>A (p.Cys259Tyr)	CRB1 (C190Y +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3338949	NM_201253.3(CRB1):c.3488G>A (p.Cys1163Tyr)	CRB1 (C1051Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3338301	NM_201253.3(CRB1):c.401G>T (p.Cys134Phe)	CRB1 (C134F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12	GLikely pathogenic
Select item 3336301	NM_201253.3(CRB1):c.1405_1410delinsGGCCTG (p.Cys469Gly)	CRB1 (C357G +2 more)	Indel (missense variant +1 more)	not specified	GUncertain significance
Select item 3336099	NM_201253.3(CRB1):c.1689C>G (p.Ser563Arg)	CRB1 (S451R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269420	NM_201253.3(CRB1):c.2023T>A (p.Trp675Arg)	CRB1 (W606R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269419	NM_201253.3(CRB1):c.3590C>G (p.Ala1197Gly)	CRB1 (A1173G +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3269418	NM_201253.3(CRB1):c.1127A>T (p.His376Leu)	CRB1 (H264L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269417	NM_201253.3(CRB1):c.283C>G (p.Leu95Val)	CRB1 (L26V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269416	NM_201253.3(CRB1):c.869G>C (p.Gly290Ala)	CRB1 (G290A +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3251473	NM_201253.3(CRB1):c.3542G>A (p.Cys1181Tyr)	CRB1 (C1069Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3247806	NC_000001.10:g.(?_197404386)_(197410804_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247805	NC_000001.10:g.(?_197297532)_(197411442_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247804	NC_000001.10:g.(?_197237543)_(197237632_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3247803	NC_000001.10:g.(?_197237543)_(197447009_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3241220	NM_201253.3(CRB1):c.2842+1G>A	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241219	NM_201253.3(CRB1):c.3755dup (p.Ser1252fs)	CRB1 (S1140fs +3 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241218	NM_201253.3(CRB1):c.1292_1295delinsGG (p.Thr431fs)	CRB1 (T319fs +2 more)	Indel (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241217	NM_201253.3(CRB1):c.863del (p.Cys288fs)	CRB1 (C219fs +1 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241216	NM_201253.3(CRB1):c.413_417del (p.Ala138fs)	CRB1 (A138fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241215	NM_201253.3(CRB1):c.573_577del (p.Asp193fs)	CRB1 (D124fs +1 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241214	NM_201253.3(CRB1):c.988+1G>T	CRB1	Single nucleotide variant (splice donor variant +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3241213	NM_201253.3(CRB1):c.3429C>A (p.Cys1143Ter)	CRB1 (C1031* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241212	NM_201253.3(CRB1):c.2408dup (p.Tyr803Ter)	CRB1 (Y691* +2 more)	Duplication (nonsense +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241211	NM_201253.3(CRB1):c.3335del (p.Asn1112fs)	CRB1 (N1000fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3241210	NM_201253.3(CRB1):c.3023T>G (p.Leu1008Ter)	CRB1 (L1008* +2 more)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3241209	NM_201253.3(CRB1):c.3750-3_3750-2del	CRB1	Deletion (splice acceptor variant)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3233954	NM_201253.3(CRB1):c.3928G>T (p.Gly1310Cys)	CRB1 (G1198C +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3233951	NM_201253.3(CRB1):c.3983C>A (p.Ala1328Asp)	CRB1 (A1216D +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3233851	NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)	CRB1 (C1106S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3233624	NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)	CRB1 (D452Y +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic/Likely pathogenic
Select item 3077252	NM_201253.3(CRB1):c.380A>G (p.Gln127Arg)	CRB1 (Q127R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3077250	NM_201253.3(CRB1):c.3355A>C (p.Lys1119Gln)	CRB1 (K1007Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3077249	NM_201253.3(CRB1):c.2762C>T (p.Ala921Val)	CRB1 (A809V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3077248	NM_201253.3(CRB1):c.246T>A (p.Ser82Arg)	CRB1 (S82R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3077247	NM_201253.3(CRB1):c.1093C>A (p.Arg365Ser)	CRB1 (R253S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 disorder	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 (missense 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)	not specified +1 more	GUncertain significance
Select item 3028447	NM_201253.3(CRB1):c.2677-446T>C	CRB1	Single nucleotide variant (synonymous 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)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2953210	NM_201253.3(CRB1):c.988+17C>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2953194	NM_201253.3(CRB1):c.2843-5A>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +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)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2952943	NM_201253.3(CRB1):c.198C>T (p.Asp66=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2952923	NM_201253.3(CRB1):c.1172-8T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2952692	NM_201253.3(CRB1):c.70+13C>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2952616	NM_201253.3(CRB1):c.249C>T (p.Ala83=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2952452	NM_201253.3(CRB1):c.1074C>A (p.Ser358=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2952266	NM_201253.3(CRB1):c.2982_3064dup (p.Ser1022delinsLysSerLeuAsnPheLeuIleLeuAlaPheLysIleProAspTyrSerPheAsnCysLysValAlaThrAlaPheIleCysTer)	CRB1	Duplication (nonsense +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2952231	NM_201253.3(CRB1):c.2814G>A (p.Gln938=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2952042	NM_201253.3(CRB1):c.652+14T>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2951913	NM_201253.3(CRB1):c.2904dup (p.Ile969fs)	CRB1 (I969fs +2 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2951687	NM_201253.3(CRB1):c.652+20A>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2951586	NM_201253.3(CRB1):c.1408C>T (p.Leu470=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign

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