CEP55[gene] and "single gene"[properties] - ClinVar

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Items: 83

	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 2688765	NM_018131.5(CEP55):c.22G>T (p.Asp8Tyr)	CEP55 (D8Y)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	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 599446	NM_018131.5(CEP55):c.70G>A (p.Glu24Lys)	CEP55 (E24K)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	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 1593062	NM_018131.5(CEP55):c.171C>G (p.His57Gln)	CEP55 (H57Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768378	NM_018131.5(CEP55):c.175C>T (p.Leu59Phe)	CEP55 (L59F)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1065435	NM_018131.5(CEP55):c.190C>T (p.Arg64Ter)	CEP55 (R64*)	Single nucleotide variant (nonsense)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GPathogenic/Likely pathogenic
Select item 1561146	NM_018131.5(CEP55):c.204T>A (p.Ala68=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	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 2054216	NM_018131.5(CEP55):c.242A>G (p.Asp81Gly)	CEP55 (D81G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1596387	NM_018131.5(CEP55):c.294_295inv (p.Thr99Ala)	CEP55 (T99A)	Inversion (missense variant)	not provided	GLikely benign
Select item 734009	NM_018131.5(CEP55):c.294C>T (p.Thr98=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1636324	NM_018131.5(CEP55):c.295A>G (p.Thr99Ala)	CEP55 (T99A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783144	NM_018131.5(CEP55):c.295= (p.Thr99=)	CEP55	Variation (no sequence alteration)	not provided	GBenign
Select item 1175779	NM_018131.5(CEP55):c.307C>T (p.Gln103Ter)	CEP55 (Q103*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2907710	NM_018131.5(CEP55):c.378C>T (p.Asp126=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1495753	NM_018131.5(CEP55):c.379G>T (p.Val127Leu)	CEP55 (V127L)	Single nucleotide variant (missense variant)	not provided	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 1934751	NM_018131.5(CEP55):c.462T>G (p.Thr154=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1666125	NM_018131.5(CEP55):c.480C>T (p.Phe160=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	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 562113	NM_018131.5(CEP55):c.514dup (p.Ile172fs)	CEP55 (I172fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 780885	NM_018131.5(CEP55):c.514A>G (p.Ile172Val)	CEP55 (I172V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3065688	NM_018131.5(CEP55):c.547C>T (p.Gln183Ter)	CEP55 (Q183*)	Single nucleotide variant (nonsense)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GLikely pathogenic
Select item 3358802	NM_018131.5(CEP55):c.571C>T (p.Arg191Trp)	CEP55 (R191W)	Single nucleotide variant (missense variant)	CEP55-related disorder	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 1374740	NM_018131.5(CEP55):c.626C>T (p.Thr209Met)	CEP55 (T209M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1599881	NM_018131.5(CEP55):c.680-19G>A	CEP55	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1561257	NM_018131.5(CEP55):c.680G>A (p.Gly227Asp)	CEP55 (G227D)	Single nucleotide variant (missense variant)	not provided	GBenign
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 1599817	NM_018131.5(CEP55):c.706T>C (p.Cys236Arg)	CEP55 (C236R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2884447	NM_018131.5(CEP55):c.715G>A (p.Asp239Asn)	CEP55 (D239N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1561126	NM_018131.5(CEP55):c.730G>C (p.Ala244Pro)	CEP55 (A244P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 722192	NM_018131.5(CEP55):c.788G>A (p.Ser263Asn)	CEP55 (S263N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 917933	NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)	CEP55 (Y269*)	Single nucleotide variant (nonsense)	CEP55-related disorder +1 more	GPathogenic/Likely pathogenic
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 1380347	NM_018131.5(CEP55):c.893G>A (p.Arg298Lys)	CEP55 (R298K)	Single nucleotide variant (missense variant)	not provided	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 2041378	NM_018131.5(CEP55):c.908del (p.Lys303fs)	CEP55 (K303fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 599328	NM_018131.5(CEP55):c.910A>T (p.Ile304Leu)	CEP55 (I304L)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GUncertain significance
Select item 1562073	NM_018131.5(CEP55):c.961G>A (p.Glu321Lys)	CEP55 (E321K)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 982559	NM_018131.5(CEP55):c.993+3A>C	CEP55	Single nucleotide variant (intron variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GPathogenic
Select item 1561136	NM_018131.5(CEP55):c.1043G>A (p.Arg348Lys)	CEP55 (R348K)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1600038	NM_018131.5(CEP55):c.1065+11G>A	CEP55	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2989041	NM_018131.5(CEP55):c.1069C>T (p.Gln357Ter)	CEP55 (Q357*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1209684	NM_018131.5(CEP55):c.1133A>T (p.His378Leu)	CEP55 (H378L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2178121	NM_018131.5(CEP55):c.1136T>C (p.Val379Ala)	CEP55 (V379A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1180716	NM_018131.5(CEP55):c.1147G>T (p.Glu383Ter)	CEP55 (E383*)	Single nucleotide variant (nonsense)	Abnormality of prenatal development or birth	GLikely pathogenic
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 1209685	NM_018131.5(CEP55):c.1191+89A>G	CEP55	Single nucleotide variant (intron variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome +1 more	GBenign
Select item 2091301	NM_018131.5(CEP55):c.1192-5T>A	CEP55	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 758695	NM_018131.5(CEP55):c.1269C>T (p.Ala423=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 784163	NM_018131.5(CEP55):c.1272C>T (p.Ala424=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 437874	NM_018131.5(CEP55):c.1274C>A (p.Ser425Ter)	CEP55 (S425*)	Single nucleotide variant (nonsense)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GPathogenic
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 2884446	NM_018131.5(CEP55):c.1293T>C (p.Ala431=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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
Select item 3047775	NM_018131.5(CEP55):c.1359C>T (p.Arg453=)	CEP55	Single nucleotide variant (synonymous variant)	CEP55-related disorder	GLikely benign
Select item 1930889	NM_018131.5(CEP55):c.1359C>A (p.Arg453=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1065436	NM_018131.5(CEP55):c.1373A>G (p.His458Arg)	CEP55 (H458R)	Single nucleotide variant (missense variant)	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	GUncertain significance

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Items: 83