"Blueprint Genetics"[submitter] AND "CERKL"[gene] - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866584	NM_201548.5(CERKL):c.1566T>G (p.Tyr522Ter)	CERKL, ITGA4 (Y522* +4 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Retinal dystrophy	GLikely pathogenic
Select item 866275	NM_201548.5(CERKL):c.1539-3C>A	CERKL, ITGA4	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 166843	NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu)	CERKL (S508L +4 more)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 860317	NM_201548.5(CERKL):c.1462G>T (p.Glu488Ter)	CERKL (E419* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic
Select item 866631	NM_201548.5(CERKL):c.1404del (p.Glu468_Val469insTer)	CERKL	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 855128	NM_201548.5(CERKL):c.1315C>T (p.Arg439Trp)	CERKL (R421W +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 555316	NM_201548.5(CERKL):c.1303C>T (p.Arg435Ter)	CERKL (R461* +4 more)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa 26 +3 more	GPathogenic/Likely pathogenic
Select item 632335	NM_201548.5(CERKL):c.1086_1087del (p.Cys362_Glu363delinsTer)	CERKL	Microsatellite (nonsense +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 236491	NM_201548.5(CERKL):c.967_968del (p.Met323fs)	CERKL (M349fs +4 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic
Select item 866781	NM_201548.5(CERKL):c.896-1G>A	CERKL	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 867183	NM_201548.5(CERKL):c.872C>T (p.Thr291Ile)	CERKL (T273I +4 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GUncertain significance
Select item 867182	NM_201548.5(CERKL):c.820+5G>C	CERKL	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 2364	NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)	CERKL (R257* +2 more)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +7 more	GPathogenic/Likely pathogenic
Select item 866003	NM_201548.5(CERKL):c.677+1G>A	CERKL	Single nucleotide variant (intron variant +1 more)	Retinitis pigmentosa 26 +2 more	GPathogenic/Likely pathogenic
Select item 866309	NM_201548.5(CERKL):c.566_569delinsGTG (p.Lys189fs)	CERKL (K189fs)	Indel (frameshift variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866058	NM_201548.5(CERKL):c.550C>T (p.Gln184Ter)	CERKL (Q184*)	Single nucleotide variant (nonsense +2 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 865914	NM_201548.5(CERKL):c.419T>C (p.Leu140Pro)	CERKL (L140P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 866659	NM_201548.5(CERKL):c.375C>G (p.Cys125Trp)	CERKL (C125W)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 865865	NM_201548.5(CERKL):c.252T>A (p.Tyr84Ter)	CERKL (Y84*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 866958	NM_201548.5(CERKL):c.238+5G>A	CERKL, LOC129935214	Single nucleotide variant (intron variant)	Retinal dystrophy	GUncertain significance
Select item 839961	NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)	CERKL (L33*)	Single nucleotide variant (nonsense +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic

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Items: 21