"PreventionGenetics, part of Exact Sciences"[submitter] AND "CEP55"[ge - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1593062	NM_018131.5(CEP55):c.171C>G (p.His57Gln)	CEP55 (H57Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3043294	NM_018131.5(CEP55):c.237G>A (p.Glu79=)	CEP55	Single nucleotide variant (synonymous variant)	CEP55-related disorder	GLikely benign
Select item 437875	NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)	CEP55 (R86*)	Single nucleotide variant (nonsense)	CEP55-related disorder +3 more	GPathogenic
Select item 3039244	NM_018131.5(CEP55):c.641A>G (p.His214Arg)	CEP55 (H214R)	Single nucleotide variant (missense variant)	CEP55-related disorder	GBenign
Select item 1561257	NM_018131.5(CEP55):c.680G>A (p.Gly227Asp)	CEP55 (G227D)	Single nucleotide variant (missense variant)	CEP55-related disorder +1 more	GBenign
Select item 1599817	NM_018131.5(CEP55):c.706T>C (p.Cys236Arg)	CEP55 (C236R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 917933	NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)	CEP55 (Y269*)	Single nucleotide variant (nonsense)	CEP55-related disorder	GLikely pathogenic
Select item 1380347	NM_018131.5(CEP55):c.893G>A (p.Arg298Lys)	CEP55 (R298K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1562073	NM_018131.5(CEP55):c.961G>A (p.Glu321Lys)	CEP55 (E321K)	Single nucleotide variant (missense variant)	CEP55-related disorder +1 more	GLikely benign
Select item 1561136	NM_018131.5(CEP55):c.1043G>A (p.Arg348Lys)	CEP55 (R348K)	Single nucleotide variant (missense variant)	CEP55-related disorder +1 more	GBenign
Select item 1209684	NM_018131.5(CEP55):c.1133A>T (p.His378Leu)	CEP55 (H378L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 784163	NM_018131.5(CEP55):c.1272C>T (p.Ala424=)	CEP55	Single nucleotide variant (synonymous variant)	CEP55-related disorder +1 more	GBenign
Select item 3047775	NM_018131.5(CEP55):c.1359C>T (p.Arg453=)	CEP55	Single nucleotide variant (synonymous variant)	CEP55-related disorder	GLikely benign