CRB1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	PIK3C2B, PKP1 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 646396	NC_000001.11:g.(?_197268194)_(197268492_?)del	CRB1	Deletion	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 294665	NM_201253.2(CRB1):c.-204C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 294666	NM_201253.2(CRB1):c.-195G>A	CRB1	Single nucleotide variant (intron variant)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 874265	NM_201253.3(CRB1):c.-56C>G	CRB1	Single nucleotide variant (5 prime UTR variant +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 875194	NM_201253.3(CRB1):c.-55C>T	CRB1	Single nucleotide variant (5 prime UTR variant +2 more)	Retinitis pigmentosa +2 more	GUncertain significance
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 1479173	NM_201253.3(CRB1):c.4G>A (p.Ala2Thr)	CRB1 (A2T)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2941543	NM_201253.3(CRB1):c.5del (p.Ala2fs)	CRB1 (A2fs)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 1984585	NM_201253.3(CRB1):c.9T>C (p.Leu3=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1671989	NM_201253.3(CRB1):c.12G>A (p.Lys4=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1423322	NM_201253.3(CRB1):c.14A>G (p.Asn5Ser)	CRB1 (N5S)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1098218	NM_201253.3(CRB1):c.15C>T (p.Asn5=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1065655	NM_201253.3(CRB1):c.18del (p.Asn7fs)	CRB1 (N7fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic/Likely pathogenic
Select item 1283919	NM_201253.3(CRB1):c.20_23del (p.Asn7fs)	CRB1 (N7fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic
Select item 1094279	NM_201253.3(CRB1):c.24C>T (p.Tyr8=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 546619	NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)	CRB1 (L10P)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 2415480	NM_201253.3(CRB1):c.30C>T (p.Leu10=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2151026	NM_201253.3(CRB1):c.40C>T (p.Leu14Phe)	CRB1 (L14F)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1099491	NM_201253.3(CRB1):c.42C>G (p.Leu14=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1095342	NM_201253.3(CRB1):c.54G>A (p.Leu18=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 973361	NM_201253.3(CRB1):c.54_55insT (p.Leu19fs)	CRB1 (L19fs)	Insertion (frameshift variant +2 more)	Retinitis pigmentosa	GPathogenic
Select item 871211	NM_201253.3(CRB1):c.57dup (p.Ile20fs)	CRB1 (I20fs)	Duplication (frameshift variant +2 more)	Inborn genetic diseases +3 more	GPathogenic
Select item 2921732	NM_201253.3(CRB1):c.60C>T (p.Ile20=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2126958	NM_201253.3(CRB1):c.62A>G (p.Tyr21Cys)	CRB1 (Y21C)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 871212	NM_201253.3(CRB1):c.63C>A (p.Tyr21Ter)	CRB1 (Y21*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 1406012	NM_201253.3(CRB1):c.65T>A (p.Ile22Lys)	CRB1 (I22K)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1546498	NM_201253.3(CRB1):c.66A>T (p.Ile22=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 866715	NM_201253.3(CRB1):c.71del (p.Asn24fs)	CRB1 (N24fs)	Deletion (frameshift variant +2 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2945863	NM_201253.3(CRB1):c.70+1G>C	CRB1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 1210393	NM_201253.3(CRB1):c.70+1G>T	CRB1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 587387	NM_201253.3(CRB1):c.70+1G>A	CRB1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 8	GPathogenic
Select item 842910	NM_201253.3(CRB1):c.70+2T>A	CRB1	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely pathogenic
Select item 2134891	NM_201253.3(CRB1):c.70+10dup	CRB1	Duplication (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1081273	NM_201253.3(CRB1):c.70+7C>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1098213	NM_201253.3(CRB1):c.70+8T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1596044	NM_201253.3(CRB1):c.70+10_70+14dup	CRB1	Duplication (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 2938691	NM_201253.3(CRB1):c.70+17T>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2926984	NM_201253.3(CRB1):c.70+18T>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2924785	NM_201253.3(CRB1):c.70+18T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2931679	NM_201253.3(CRB1):c.70+20G>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1293036	NM_201253.3(CRB1):c.70+50_70+52del	CRB1	Microsatellite (intron variant)	not provided	GBenign
Select item 1265424	NM_201253.3(CRB1):c.71-144A>G	CRB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247831	NM_201253.3(CRB1):c.71-135T>C	CRB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2940084	NM_201253.3(CRB1):c.71-20T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2925217	NM_201253.3(CRB1):c.71-18C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1164645	NM_201253.3(CRB1):c.71-13dup	CRB1	Duplication (intron variant)	Retinitis pigmentosa 12 +1 more	GBenign
Select item 2928893	NM_201253.3(CRB1):c.71-17T>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1597723	NM_201253.3(CRB1):c.71-14T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2943514	NM_201253.3(CRB1):c.71-13T>A	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1572069	NM_201253.3(CRB1):c.71-12del	CRB1	Deletion (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1542787	NM_201253.3(CRB1):c.71-12A>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 96660	NM_201253.3(CRB1):c.71-12A>T	CRB1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 1560716	NM_201253.3(CRB1):c.71-10T>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1153930	NM_201253.3(CRB1):c.71-9T>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1132666	NM_201253.3(CRB1):c.71-9T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 771119	NM_201253.3(CRB1):c.71-8C>T	CRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 771120	NM_201253.3(CRB1):c.71-7C>T	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2930344	NM_201253.3(CRB1):c.71-5del	CRB1	Deletion (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2030494	NM_201253.3(CRB1):c.71-6T>G	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1586903	NM_201253.3(CRB1):c.71-6T>C	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 771121	NM_201253.3(CRB1):c.71-4G>T	CRB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1067703	NM_201253.3(CRB1):c.71-2A>G	CRB1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 12 +1 more	GLikely pathogenic
Select item 2672264	NM_201253.3(CRB1):c.71delA	CRB1 (N24fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 1095736	NM_201253.3(CRB1):c.75C>T (p.Ser25=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1156406	NM_201253.3(CRB1):c.78T>C (p.Phe26=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 978995	NM_201253.3(CRB1):c.80G>T (p.Cys27Phe)	CRB1 (C27F)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic/Likely pathogenic
Select item 978990	NM_201253.3(CRB1):c.80G>C (p.Cys27Ser)	CRB1 (C27S)	Single nucleotide variant (missense variant +2 more)	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 3028298	NM_201253.3(CRB1):c.84dup (p.Lys29Ter)	CRB1 (K29*)	Duplication (nonsense +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 2183949	NM_201253.3(CRB1):c.84T>C (p.Asn28=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2200805	NM_201253.3(CRB1):c.89ACA[1] (p.Asn31del)	CRB1 (N31del)	Microsatellite (inframe_deletion +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2554191	NM_201253.3(CRB1):c.92A>C (p.Asn31Thr)	CRB1 (N31T)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2149029	NM_201253.3(CRB1):c.96C>G (p.Thr32=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 961858	NM_201253.3(CRB1):c.97A>G (p.Arg33Gly)	CRB1 (R33G)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 876154	NM_201253.3(CRB1):c.98G>A (p.Arg33Lys)	CRB1 (R33K)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 2927603	NM_201253.3(CRB1):c.99G>A (p.Arg33=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 100609	NM_201253.3(CRB1):c.99G>T (p.Arg33Ser)	CRB1 (R33S)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity
Select item 1132915	NM_201253.3(CRB1):c.102C>T (p.Cys34=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1699571	NM_201253.3(CRB1):c.104T>C (p.Leu35Pro)	CRB1 (L35P)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1414052	NM_201253.3(CRB1):c.107C>A (p.Ser36Ter)	CRB1 (S36*)	Single nucleotide variant (nonsense +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2036789	NM_201253.3(CRB1):c.108A>G (p.Ser36=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 99865	NM_201253.3(CRB1):c.112del (p.Ser38fs)	CRB1 (S38fs)	Deletion (frameshift variant +2 more)	Retinitis pigmentosa 12 +1 more	GPathogenic/Likely pathogenic
Select item 1652315	NM_201253.3(CRB1):c.114T>C (p.Ser38=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2025522	NM_201253.3(CRB1):c.117C>A (p.Cys39Ter)	CRB1 (C39*)	Single nucleotide variant (nonsense +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 1091176	NM_201253.3(CRB1):c.123C>T (p.Asn41=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1395276	NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)	CRB1 (S43P)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 1125366	NM_201253.3(CRB1):c.129T>A (p.Ser43=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1333701	NM_201253.3(CRB1):c.132dup (p.Cys45fs)	CRB1 (C45fs)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8	GLikely pathogenic
Select item 1556278	NM_201253.3(CRB1):c.132A>G (p.Thr44=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1275767	NM_201253.3(CRB1):c.134_135del (p.Thr44_Cys45insTer)	CRB1	Deletion (nonsense +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic
Select item 418147	NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	CRB1 (C45W)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GUncertain significance
Select item 2202906	NM_201253.3(CRB1):c.138del (p.Asp47fs)	CRB1 (D47fs)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 2008362	NM_201253.3(CRB1):c.137A>C (p.Lys46Thr)	CRB1 (K46T)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 2680959	NM_201253.3(CRB1):c.139del (p.Asp47fs)	CRB1 (D47fs)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8	GPathogenic
Select item 3028304	NM_201253.3(CRB1):c.145dup (p.Ser49fs)	CRB1 (S49fs)	Duplication (frameshift variant +2 more)	Retinal dystrophy	GPathogenic
Select item 1385941	NM_201253.3(CRB1):c.140A>G (p.Asp47Gly)	CRB1 (D47G)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance

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