C1868310[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1395276	NM_201253.3(CRB1):c.127T>C (p.Ser43Pro)	CRB1 (S43P)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 866384	NM_201253.3(CRB1):c.506del (p.Gly169fs)	CRB1 (G169fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +4 more	GPathogenic/Likely pathogenic
Select item 265083	NM_201253.3(CRB1):c.584G>T (p.Cys195Phe)	CRB1 (C195F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +5 more	GPathogenic/Likely pathogenic
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	not provided +6 more	GPathogenic
Select item 1055115	NM_201253.3(CRB1):c.635G>T (p.Cys212Phe)	CRB1 (C143F +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 965648	NM_201253.3(CRB1):c.635G>A (p.Cys212Tyr)	CRB1 (C143Y +1 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 963279	NM_201253.3(CRB1):c.976C>T (p.His326Tyr)	CRB1 (H257Y +1 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 99866	NM_201253.3(CRB1):c.1148G>A (p.Cys383Tyr)	CRB1 (C383Y +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GPathogenic/Likely pathogenic
Select item 797793	NM_201253.3(CRB1):c.1206T>C (p.Ser402=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GLikely benign
Select item 444188	NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)	CRB1 (T476A +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 1426475	NM_201253.3(CRB1):c.1471G>A (p.Asp491Asn)	CRB1 (D379N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 294671	NM_201253.3(CRB1):c.1507A>G (p.Thr503Ala)	CRB1 (T503A +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 1396683	NM_201253.3(CRB1):c.1732G>C (p.Val578Leu)	CRB1 (V578L +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 1074871	NM_201253.3(CRB1):c.1743_1755dup (p.Ser586fs)	CRB1 (S474fs +2 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 1438550	NM_201253.3(CRB1):c.1755C>A (p.Asp585Glu)	CRB1 (D516E +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 1076789	NM_201253.3(CRB1):c.1831T>C (p.Ser611Pro)	CRB1 (S499P +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 968342	NM_201253.3(CRB1):c.2231G>A (p.Arg744Gln)	CRB1 (R632Q +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 5732	NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	CRB1 (R764C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +8 more	GPathogenic/Likely pathogenic
Select item 5736	NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	CRB1 (K801* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +4 more	GPathogenic
Select item 843620	NM_201253.3(CRB1):c.2488A>T (p.Ile830Phe)	CRB1 (I718F +2 more)	Single nucleotide variant (missense variant +2 more)	Pigmented paravenous retinochoroidal atrophy +2 more	GUncertain significance
Select item 806307	NM_201253.3(CRB1):c.2677-343G>A	CRB1 (G868R)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GUncertain significance
Select item 99887	NM_201253.3(CRB1):c.2681A>G (p.Asn894Ser)	CRB1 (N894S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 99889	NM_201253.3(CRB1):c.2823G>A (p.Pro941=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +2 more	GLikely benign
Select item 438077	NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	CRB1 (E947K +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 1106425	NM_201253.3(CRB1):c.2843-3dup	CRB1	Duplication (intron variant)	Retinitis pigmentosa 12 +2 more	GLikely benign
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	CRB1-related disorder +7 more	GPathogenic
Select item 967613	NM_201253.3(CRB1):c.2875G>A (p.Gly959Ser)	CRB1 (G847S +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +2 more	GUncertain significance
Select item 707390	NM_201253.3(CRB1):c.2977G>A (p.Glu993Lys)	CRB1 (E969K +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GLikely benign
Select item 973914	NM_201253.3(CRB1):c.3149G>A (p.Arg1050Lys)	CRB1 (R1026K +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GUncertain significance
Select item 294685	NM_201253.3(CRB1):c.3202A>G (p.Thr1068Ala)	CRB1 (T1068A +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 5734	NM_201253.3(CRB1):c.3299T>G (p.Ile1100Arg)	CRB1 (I1100R +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GLikely pathogenic
Select item 1490976	NM_201253.3(CRB1):c.3862G>A (p.Gly1288Ser)	CRB1 (G1288S +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic/Likely pathogenic
Select item 946970	NM_201253.3(CRB1):c.3936C>G (p.Cys1312Trp)	CRB1 (C1312W +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 801602	NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)	CRB1 (C1321G +3 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 1 +3 more	GLikely pathogenic
Select item 1076902	NM_201253.3(CRB1):c.4006-1G>T	CRB1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 12 +2 more	GPathogenic

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Items: 36