"Ambry Genetics"[submitter] AND "CEP55"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2482790	NM_018131.5(CEP55):c.5C>T (p.Ser2Phe)	CEP55 (S2F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481939	NM_018131.5(CEP55):c.17C>G (p.Thr6Ser)	CEP55 (T6S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2276559	NM_018131.5(CEP55):c.55A>G (p.Ser19Gly)	CEP55 (S19G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142966	NM_018131.5(CEP55):c.94G>A (p.Gly32Arg)	CEP55 (G32R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589883	NM_018131.5(CEP55):c.181G>A (p.Glu61Lys)	CEP55 (E61K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 437875	NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)	CEP55 (R86*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 3142961	NM_018131.5(CEP55):c.284A>G (p.Tyr95Cys)	CEP55 (Y95C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2373998	NM_018131.5(CEP55):c.323C>T (p.Thr108Met)	CEP55 (T108M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2049472	NM_018131.5(CEP55):c.379G>A (p.Val127Ile)	CEP55 (V127I)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +2 more	GUncertain significance
Select item 2407629	NM_018131.5(CEP55):c.403G>A (p.Ala135Thr)	CEP55 (A135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3142962	NM_018131.5(CEP55):c.406A>G (p.Thr136Ala)	CEP55 (T136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242348	NM_018131.5(CEP55):c.416T>C (p.Ile139Thr)	CEP55 (I139T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260596	NM_018131.5(CEP55):c.443C>T (p.Thr148Ile)	CEP55 (T148I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266222	NM_018131.5(CEP55):c.449G>A (p.Arg150His)	CEP55 (R150H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3142964	NM_018131.5(CEP55):c.499A>G (p.Ile167Val)	CEP55 (I167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350452	NM_018131.5(CEP55):c.581A>G (p.Tyr194Cys)	CEP55 (Y194C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3266223	NM_018131.5(CEP55):c.682T>C (p.Tyr228His)	CEP55 (Y228H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3142965	NM_018131.5(CEP55):c.685C>G (p.Leu229Val)	CEP55 (L229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326236	NM_018131.5(CEP55):c.697A>C (p.Lys233Gln)	CEP55 (K233Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2354434	NM_018131.5(CEP55):c.797G>A (p.Arg266Gln)	CEP55 (R266Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403542	NM_018131.5(CEP55):c.806A>G (p.Tyr269Cys)	CEP55 (Y269C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2069690	NM_018131.5(CEP55):c.878A>G (p.His293Arg)	CEP55 (H293R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2234456	NM_018131.5(CEP55):c.895C>T (p.His299Tyr)	CEP55 (H299Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2468362	NM_018131.5(CEP55):c.907A>G (p.Lys303Glu)	CEP55 (K303E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2393176	NM_018131.5(CEP55):c.976G>A (p.Glu326Lys)	CEP55 (E326K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353335	NM_018131.5(CEP55):c.1109G>A (p.Arg370His)	CEP55 (R370H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346038	NM_018131.5(CEP55):c.1154G>A (p.Arg385Gln)	CEP55 (R385Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 520544	NM_018131.5(CEP55):c.1191+2T>C	CEP55	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 2247567	NM_018131.5(CEP55):c.1256G>A (p.Arg419Lys)	CEP55 (R419K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2464310	NM_018131.5(CEP55):c.1270G>A (p.Ala424Thr)	CEP55 (A424T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1027682	NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg)	CEP55 (P426R)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +2 more	GUncertain significance
Select item 2589053	NM_018131.5(CEP55):c.1301A>G (p.Asn434Ser)	CEP55 (N434S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2214535	NM_018131.5(CEP55):c.1306A>G (p.Ser436Gly)	CEP55 (S436G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 33