"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CRB1"[gene - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 546619	NM_201253.3(CRB1):c.29T>C (p.Leu10Pro)	CRB1 (L10P)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 871212	NM_201253.3(CRB1):c.63C>A (p.Tyr21Ter)	CRB1 (Y21*)	Single nucleotide variant (nonsense +2 more)	not provided	GPathogenic
Select item 871213	NM_201253.3(CRB1):c.407G>A (p.Cys136Tyr)	CRB1 (C67Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 424923	NM_201253.3(CRB1):c.481G>A (p.Ala161Thr)	CRB1 (A161T +1 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +2 more	GConflicting classifications of pathogenicity
Select item 96659	NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	CRB1	Deletion (inframe_deletion +1 more)	Cone dystrophy +10 more	GConflicting classifications of pathogenicity
Select item 866384	NM_201253.3(CRB1):c.506del (p.Gly169fs)	CRB1 (G169fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +4 more	GPathogenic/Likely pathogenic
Select item 806304	NM_201253.3(CRB1):c.529G>C (p.Gly177Arg)	CRB1 (G177R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1079916	NM_201253.3(CRB1):c.579T>C (p.Asp193=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Pigmented paravenous retinochoroidal atrophy +3 more	GLikely benign
Select item 99913	NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	CRB1 (I136fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 12 +6 more	GPathogenic
Select item 623711	NM_201253.3(CRB1):c.713C>A (p.Thr238Asn)	CRB1 (T238N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 806305	NM_201253.3(CRB1):c.862T>A (p.Cys288Ser)	CRB1 (C219S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 424924	NM_201253.3(CRB1):c.1023T>A (p.Asn341Lys)	CRB1 (N341K +2 more)	Single nucleotide variant (missense variant +1 more)	Leber congenital amaurosis 8 +3 more	GUncertain significance
Select item 766807	NM_201253.3(CRB1):c.1075T>G (p.Ser359Ala)	CRB1 (S359A +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmented paravenous retinochoroidal atrophy +4 more	GLikely benign
Select item 872032	NM_201253.3(CRB1):c.1149dup (p.Ile384fs)	CRB1 (I315fs +2 more)	Duplication (frameshift variant +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 444188	NM_201253.3(CRB1):c.1426A>G (p.Thr476Ala)	CRB1 (T476A +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 99872	NM_201253.3(CRB1):c.1647T>C (p.Asn549=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity
Select item 374588	NM_201253.3(CRB1):c.1850C>A (p.Pro617Gln)	CRB1 (P617Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 444189	NM_201253.3(CRB1):c.1914G>T (p.Ser638=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 99874	NM_201253.3(CRB1):c.2042G>A (p.Cys681Tyr)	CRB1 (C681Y +2 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +2 more	GPathogenic
Select item 289997	NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	CRB1	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity
Select item 1298444	NM_201253.3(CRB1):c.2118del (p.Cys707fs)	CRB1 (C595fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 872033	NM_201253.3(CRB1):c.2171A>G (p.Tyr724Cys)	CRB1 (Y612C +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 1013547	NM_201253.3(CRB1):c.2179T>C (p.Phe727Leu)	CRB1 (F615L +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 294676	NM_201253.3(CRB1):c.2230C>A (p.Arg744=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +6 more	GConflicting classifications of pathogenicity
Select item 5733	NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	CRB1 (T745M +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +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)	Macular dystrophy +9 more	GPathogenic/Likely pathogenic
Select item 294677	NM_201253.3(CRB1):c.2307C>T (p.Arg769=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 806306	NM_201253.3(CRB1):c.2327C>A (p.Thr776Asn)	CRB1 (T776N +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 5736	NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	CRB1 (K801* +2 more)	Single nucleotide variant (nonsense +2 more)	not provided +4 more	GPathogenic
Select item 198633	NM_201253.3(CRB1):c.2462C>T (p.Thr821Met)	CRB1 (T821M +2 more)	Single nucleotide variant (missense variant +2 more)	Retinitis pigmentosa 12 +3 more	GConflicting classifications of pathogenicity
Select item 801599	NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)	CRB1 (G733fs +2 more)	Deletion (frameshift variant +2 more)	not provided +3 more	GPathogenic
Select item 493059	NM_201253.3(CRB1):c.2560G>C (p.Asp854His)	CRB1 (D854H +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2672375	NM_201253.3(CRB1):c.2596C>A (p.Pro866Thr)	CRB1 (P754T +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	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)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity
Select item 806308	NM_201253.3(CRB1):c.2687G>A (p.Cys896Tyr)	CRB1 (C784Y +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +3 more	GPathogenic/Likely pathogenic
Select item 374692	NM_201253.3(CRB1):c.2746C>T (p.Leu916Phe)	CRB1 (L916F +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis 8 +4 more	GConflicting classifications of pathogenicity
Select item 438078	NM_201253.3(CRB1):c.2842+5G>A	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +2 more	GPathogenic/Likely pathogenic
Select item 2498441	NM_201253.3(CRB1):c.2842+33T>G	CRB1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 39614	NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	CRB1 (C948Y +2 more)	Single nucleotide variant (missense variant +2 more)	Retinal dystrophy +7 more	GPathogenic
Select item 1701117	NM_201253.3(CRB1):c.2970_2971delinsTT (p.Leu990_His991delinsPheTyr)	CRB1	Indel (missense variant +2 more)	not provided	GUncertain significance
Select item 444190	NM_201253.3(CRB1):c.3062T>C (p.Leu1021Pro)	CRB1 (L1021P +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1176529	NM_201253.3(CRB1):c.3086T>C (p.Val1029Ala)	CRB1 (V1005A +2 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 424925	NM_201253.3(CRB1):c.3086T>A (p.Val1029Glu)	CRB1 (V1029E +2 more)	Single nucleotide variant (missense variant +2 more)	Leber congenital amaurosis +1 more	GConflicting classifications of pathogenicity
Select item 1087409	NM_201253.3(CRB1):c.3534C>T (p.Ile1178=)	CRB1	Single nucleotide variant (synonymous variant +2 more)	Retinitis pigmentosa 12 +3 more	GLikely benign
Select item 801601	NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)	CRB1 (C1106Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 872034	NM_201253.3(CRB1):c.3713_3716dup (p.Cys1240fs)	CRB1 (C1216fs +2 more)	Duplication (frameshift variant +2 more)	Retinitis pigmentosa 12 +2 more	GPathogenic
Select item 294689	NM_201253.3(CRB1):c.3750-3T>C	CRB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 12 +4 more	GConflicting classifications of pathogenicity
Select item 806309	NM_201253.3(CRB1):c.3791C>A (p.Thr1264Lys)	CRB1 (T1152K +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2639711	NM_201253.3(CRB1):c.3871G>A (p.Gly1291Arg)	CRB1 (G1179R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 865928	NM_201253.3(CRB1):c.3991C>T (p.Arg1331Cys)	CRB1 (R1219C +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +5 more	GPathogenic
Select item 99906	NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	CRB1 (R1331H +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +7 more	GBenign/Likely benign
Select item 841844	NM_201253.3(CRB1):c.3996C>A (p.Cys1332Ter)	CRB1 (C1308* +3 more)	Single nucleotide variant (nonsense +1 more)	Leber congenital amaurosis 8 +2 more	GPathogenic
Select item 971732	NM_201253.3(CRB1):c.4060G>A (p.Ala1354Thr)	CRB1 (A1330T +3 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 12 +3 more	GUncertain significance
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	ASPM, CFH +11 more	Copy number loss	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 56