"PreventionGenetics, part of Exact Sciences"[submitter] AND "RLIG1"[ge - ClinVar - NCBI

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

Search results

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 261824	NM_001009894.3(RLIG1):c.*718A>T	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 261823	NM_001009894.3(RLIG1):c.743_746del	CEP290, RLIG1	Deletion (3 prime UTR variant)	not provided +6 more	GBenign/Likely benign
Select item 1307943	NM_025114.4(CEP290):c.7411_7412del (p.Glu2471fs)	RLIG1, CEP290 (E2471fs)	Deletion (frameshift variant +1 more)	CEP290-related disorder +4 more	GUncertain significance
Select item 966453	NM_025114.4(CEP290):c.7392_7393insCA (p.Glu2465fs)	CEP290, RLIG1 (E2465fs)	Insertion (frameshift variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 968286	NM_025114.4(CEP290):c.7372A>G (p.Ser2458Gly)	CEP290, RLIG1 (S2458G)	Single nucleotide variant (missense variant +1 more)	Familial aplasia of the vermis +4 more	GUncertain significance
Select item 310585	NM_025114.4(CEP290):c.7365A>G (p.Glu2455=)	CEP290, RLIG1	Single nucleotide variant (synonymous variant +1 more)	CEP290-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 2628978	NM_025114.4(CEP290):c.7361T>C (p.Val2454Ala)	CEP290, RLIG1 (V1514A +1 more)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder	GUncertain significance
Select item 2628703	NM_025114.4(CEP290):c.7348G>C (p.Glu2450Gln)	CEP290, RLIG1 (E1510Q +1 more)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder	GUncertain significance
Select item 866908	NM_025114.4(CEP290):c.7340A>C (p.Lys2447Thr)	RLIG1, CEP290 (K2447T)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GUncertain significance
Select item 945143	NM_025114.4(CEP290):c.7333G>A (p.Val2445Ile)	CEP290, RLIG1 (V2445I)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder +3 more	GUncertain significance
Select item 956518	NM_025114.4(CEP290):c.7283_7286dup (p.Tyr2429Ter)	CEP290, RLIG1 (Y2429*)	Duplication (nonsense +1 more)	Familial aplasia of the vermis +8 more	GPathogenic/Likely pathogenic
Select item 310586	NM_025114.4(CEP290):c.7276G>A (p.Asp2426Asn)	CEP290, RLIG1 (D2426N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +10 more	GUncertain significance
Select item 418123	NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	CEP290, RLIG1 (K2407fs)	Deletion (frameshift variant +1 more)	Abnormal facial shape +10 more	GPathogenic/Likely pathogenic
Select item 2175602	NM_025114.4(CEP290):c.7222A>C (p.Lys2408Gln)	CEP290, RLIG1 (K1468Q +1 more)	Single nucleotide variant (missense variant +1 more)	CEP290-related disorder +4 more	GUncertain significance
Select item 1155254	NM_001009894.3(RLIG1):c.*997T>A	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant +1 more)	CEP290-related disorder +3 more	GLikely benign
Select item 126268	NM_001009894.3(RLIG1):c.*1014A>G	CEP290, RLIG1	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GLikely benign