ClinVar for MedGen (Select 462552) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3767351	NM_201253.3(CRB1):c.3305T>G (p.Ile1102Ser)	CRB1 (I1078S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 3763413	NM_201253.3(CRB1):c.4130G>A (p.Gly1377Glu)	CRB1 (G1265E +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 3763412	NM_201253.3(CRB1):c.3946_3949del (p.Leu1316fs)	CRB1 (L1204fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3763268	NM_201253.3(CRB1):c.3285G>A (p.Gly1095=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3763121	NM_201253.3(CRB1):c.3822C>A (p.Cys1274Ter)	CRB1 (C1162* +3 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3762940	NM_201253.3(CRB1):c.3749+13T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3762582	NM_201253.3(CRB1):c.2769G>A (p.Glu923=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3761153	NM_201253.3(CRB1):c.4171G>C (p.Val1391Leu)	CRB1 (V1279L +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 3760261	NM_201253.3(CRB1):c.1884T>C (p.Leu628=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3760108	NM_201253.3(CRB1):c.1236T>A (p.Cys412Ter)	CRB1 (C300* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 3757961	NM_201253.3(CRB1):c.586A>T (p.Lys196Ter)	CRB1 (K127* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 3757015	NM_201253.3(CRB1):c.30C>G (p.Leu10=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3755731	NM_201253.3(CRB1):c.2383T>C (p.Leu795=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3755435	NM_201253.3(CRB1):c.1334G>A (p.Cys445Tyr)	CRB1 (C333Y +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 3755288	NM_201253.3(CRB1):c.2843-4T>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3755007	NM_201253.3(CRB1):c.652+12C>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754966	NM_201253.3(CRB1):c.4168dup (p.Arg1390fs)	CRB1 (R1278fs +3 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3754939	NM_201253.3(CRB1):c.3658_3659del (p.His1221fs)	CRB1 (H1109fs +2 more)	Microsatellite (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 3754865	NM_201253.3(CRB1):c.1668G>A (p.Leu556=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754707	NM_201253.3(CRB1):c.6A>C (p.Ala2=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754704	NM_201253.3(CRB1):c.4026C>G (p.Ser1342=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754659	NM_201253.3(CRB1):c.246T>C (p.Ser82=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754523	NM_201253.3(CRB1):c.660C>T (p.Asn220=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754422	NM_201253.3(CRB1):c.3687C>T (p.Cys1229=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3754365	NM_201253.3(CRB1):c.480G>A (p.Gly160=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 3753336	NM_201253.3(CRB1):c.2472C>A (p.Ile824=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3752819	NM_201253.3(CRB1):c.1623C>T (p.Tyr541=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3752397	NM_201253.3(CRB1):c.4006-17G>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3751574	NM_201253.3(CRB1):c.1649del (p.Asn550fs)	CRB1 (N438fs +2 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 3751403	NM_201253.3(CRB1):c.4199del (p.Pro1400fs)	CRB1 (P1288fs +3 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 3751313	NM_201253.3(CRB1):c.989-6A>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3751273	NM_201253.3(CRB1):c.988+16C>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3751052	NM_201253.3(CRB1):c.2083C>T (p.Gln695Ter)	CRB1 (Q583* +2 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 3750961	NM_201253.3(CRB1):c.888A>C (p.Thr296=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3750338	NM_201253.3(CRB1):c.416G>T (p.Gly139Val)	CRB1 (G139V +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 3749846	NM_201253.3(CRB1):c.3878+17C>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3749527	NM_201253.3(CRB1):c.4153G>C (p.Glu1385Gln)	CRB1 (E1273Q +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 3749394	NM_201253.3(CRB1):c.2614G>A (p.Ala872Thr)	CRB1 (A760T +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 3748354	NM_201253.3(CRB1):c.2842+20A>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 3576505	NM_201253.3(CRB1):c.4182G>A (p.Trp1394Ter)	CRB1 (W1370* +3 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576474	NM_201253.3(CRB1):c.3926del (p.Gly1309fs)	CRB1 (G1285fs +3 more)	Deletion (frameshift variant +1 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576458	NM_201253.3(CRB1):c.3621del (p.Gly1208fs)	CRB1 (G1208fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576437	NM_201253.3(CRB1):c.3375del (p.Leu1126fs)	CRB1 (L1014fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576425	NM_201253.3(CRB1):c.3296del (p.Thr1099fs)	CRB1 (T1075fs +2 more)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576409	NM_201253.3(CRB1):c.3055_3057delinsGCAATTGACA (p.Tyr1019fs)	CRB1 (Y907fs +2 more)	Indel (frameshift variant +2 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576369	NM_201253.3(CRB1):c.2816G>A (p.Cys939Tyr)	CRB1 (C939Y +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 3576357	NM_201253.3(CRB1):c.2677-2A>G	CRB1	Single nucleotide variant (splice acceptor variant +1 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576306	NM_201253.3(CRB1):c.1881_1885dup (p.Asn629fs)	CRB1 (N517fs +2 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
Select item 3576290	NM_201253.3(CRB1):c.1172-1G>A	CRB1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 8 +2 more	GLikely pathogenic
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 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 +1 more	GPathogenic/Likely 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 3233851	NM_201253.3(CRB1):c.3652T>A (p.Cys1218Ser)	CRB1 (C1106S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3233624	NM_201253.3(CRB1):c.1690G>T (p.Asp564Tyr)	CRB1 (D452Y +2 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
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)	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)	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
Select item 2951295	NM_201253.3(CRB1):c.2205C>T (p.Asp735=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2951242	NM_201253.3(CRB1):c.3069G>A (p.Leu1023=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2951234	NM_201253.3(CRB1):c.981C>T (p.Cys327=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2951232	NM_201253.3(CRB1):c.2543del (p.Phe848fs)	CRB1 (F736fs +2 more)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2951170	NM_201253.3(CRB1):c.477T>C (p.Asn159=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2951101	NM_201253.3(CRB1):c.3279G>A (p.Leu1093=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2950994	NM_201253.3(CRB1):c.1171+8C>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign

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