C1838647[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 646396	NC_000001.11:g.(?_197268194)_(197268492_?)del	CRB1	Deletion	Leber congenital amaurosis 8 +1 more	GPathogenic
Select item 1479173	NM_201253.3(CRB1):c.4G>A (p.Ala2Thr)	CRB1 (A2T)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +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)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1065655	NM_201253.3(CRB1):c.18del (p.Asn7fs)	CRB1 (N7fs)	Deletion (frameshift variant +2 more)	Leber congenital amaurosis 8 +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 +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)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1099491	NM_201253.3(CRB1):c.42C>G (p.Leu14=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +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 871211	NM_201253.3(CRB1):c.57dup (p.Ile20fs)	CRB1 (I20fs)	Duplication (frameshift variant +2 more)	Leber congenital amaurosis 8 +4 more	GPathogenic/Likely pathogenic
Select item 2921732	NM_201253.3(CRB1):c.60C>T (p.Ile20=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1406012	NM_201253.3(CRB1):c.65T>A (p.Ile22Lys)	CRB1 (I22K)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 842910	NM_201253.3(CRB1):c.70+2T>A	CRB1	Single nucleotide variant (intron variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
Select item 2134891	NM_201253.3(CRB1):c.70+10dup	CRB1	Duplication (intron variant)	Retinitis pigmentosa 12 +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)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1596044	NM_201253.3(CRB1):c.70+10_70+14dup	CRB1	Duplication (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 2938691	NM_201253.3(CRB1):c.70+17T>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2931679	NM_201253.3(CRB1):c.70+20G>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
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)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1597723	NM_201253.3(CRB1):c.71-14T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2943514	NM_201253.3(CRB1):c.71-13T>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +5 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)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 771120	NM_201253.3(CRB1):c.71-7C>T	CRB1	Single nucleotide variant (intron variant)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2930344	NM_201253.3(CRB1):c.71-5del	CRB1	Deletion (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2030494	NM_201253.3(CRB1):c.71-6T>G	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1586903	NM_201253.3(CRB1):c.71-6T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1067703	NM_201253.3(CRB1):c.71-2A>G	CRB1	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 8 +1 more	GLikely pathogenic
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 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)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 2149029	NM_201253.3(CRB1):c.96C>G (p.Thr32=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +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 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)	not provided +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)	Leber congenital amaurosis 8 +1 more	GLikely benign
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)	Retinitis pigmentosa 12 +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)	Retinitis pigmentosa 12 +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)	Leber congenital amaurosis 8 +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 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)	Pigmented paravenous retinochoroidal atrophy +5 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 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
Select item 1433489	NM_201253.3(CRB1):c.142T>A (p.Phe48Ile)	CRB1 (F48I)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1648984	NM_201253.3(CRB1):c.144T>C (p.Phe48=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1973794	NM_201253.3(CRB1):c.153C>T (p.Asp51=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 767049	NM_201253.3(CRB1):c.156T>C (p.Asn52=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 783191	NM_201253.3(CRB1):c.161G>T (p.Cys54Phe)	CRB1 (C54F)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GConflicting classifications of pathogenicity
Select item 793865	NM_201253.3(CRB1):c.162T>C (p.Cys54=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 2947402	NM_201253.3(CRB1):c.174C>T (p.Asp58=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1059731	NM_201253.3(CRB1):c.176C>T (p.Thr59Ile)	CRB1 (T59I)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 2046336	NM_201253.3(CRB1):c.180C>G (p.Ala60=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1110375	NM_201253.3(CRB1):c.183T>C (p.Asn61=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2088051	NM_201253.3(CRB1):c.194_195del (p.Lys65fs)	CRB1 (K65fs)	Deletion (frameshift variant +2 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)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 972523	NM_201253.3(CRB1):c.200G>C (p.Cys67Ser)	CRB1 (C67S)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1553817	NM_201253.3(CRB1):c.201T>C (p.Cys67=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1116131	NM_201253.3(CRB1):c.207C>T (p.Asn69=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1419094	NM_201253.3(CRB1):c.208A>G (p.Met70Val)	CRB1 (M70V +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1637449	NM_201253.3(CRB1):c.213A>G (p.Lys71=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 2167543	NM_201253.3(CRB1):c.218C>T (p.Pro73Leu)	CRB1 (P4L +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 2928308	NM_201253.3(CRB1):c.222C>A (p.Cys74Ter)	CRB1 (C5* +1 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 2945465	NM_201253.3(CRB1):c.228C>T (p.Ser76=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +1 more	GLikely benign
Select item 1637517	NM_201253.3(CRB1):c.234C>G (p.Pro78=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1147275	NM_201253.3(CRB1):c.234C>T (p.Pro78=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Leber congenital amaurosis 8 +1 more	GLikely benign
Select item 1006186	NM_201253.3(CRB1):c.238C>G (p.Gln80Glu)	CRB1 (Q11E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 1039568	NM_201253.3(CRB1):c.239A>T (p.Gln80Leu)	CRB1 (Q80L +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +1 more	GUncertain significance
Select item 1019290	NM_201253.3(CRB1):c.245G>A (p.Ser82Asn)	CRB1 (S13N +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
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 1006452	NM_201253.3(CRB1):c.250A>G (p.Thr84Ala)	CRB1 (T15A +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +1 more	GUncertain significance
Select item 419132	NM_201253.3(CRB1):c.257_258dup (p.Asn87Ter)	CRB1 (N18* +1 more)	Microsatellite (nonsense +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic

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