ClinVar for Gene (Select 55165) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3142965	NM_018131.5(CEP55):c.685C>G (p.Leu229Val)	CEP55 (L229V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3142962	NM_018131.5(CEP55):c.406A>G (p.Thr136Ala)	CEP55 (T136A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
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 3043294	NM_018131.5(CEP55):c.237G>A (p.Glu79=)	CEP55	Single nucleotide variant (synonymous variant)	CEP55-related disorder	GLikely benign
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 2989041	NM_018131.5(CEP55):c.1069C>T (p.Gln357Ter)	CEP55 (Q357*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2907710	NM_018131.5(CEP55):c.378C>T (p.Asp126=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2884446	NM_018131.5(CEP55):c.1293T>C (p.Ala431=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
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 2589053	NM_018131.5(CEP55):c.1301A>G (p.Asn434Ser)	CEP55 (N434S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	PIK3AP1, SVIL +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	RRP12, USP54 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
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 2468362	NM_018131.5(CEP55):c.907A>G (p.Lys303Glu)	CEP55 (K303E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
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 2403542	NM_018131.5(CEP55):c.806A>G (p.Tyr269Cys)	CEP55 (Y269C)	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 2373998	NM_018131.5(CEP55):c.323C>T (p.Thr108Met)	CEP55 (T108M)	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 2353335	NM_018131.5(CEP55):c.1109G>A (p.Arg370His)	CEP55 (R370H)	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 2346038	NM_018131.5(CEP55):c.1154G>A (p.Arg385Gln)	CEP55 (R385Q)	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 2276559	NM_018131.5(CEP55):c.55A>G (p.Ser19Gly)	CEP55 (S19G)	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 2247567	NM_018131.5(CEP55):c.1256G>A (p.Arg419Lys)	CEP55 (R419K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2234456	NM_018131.5(CEP55):c.895C>T (p.His299Tyr)	CEP55 (H299Y)	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 2178121	NM_018131.5(CEP55):c.1136T>C (p.Val379Ala)	CEP55 (V379A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091301	NM_018131.5(CEP55):c.1192-5T>A	CEP55	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2069690	NM_018131.5(CEP55):c.878A>G (p.His293Arg)	CEP55 (H293R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2049472	NM_018131.5(CEP55):c.379G>A (p.Val127Ile)	CEP55 (V127I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2041378	NM_018131.5(CEP55):c.908del (p.Lys303fs)	CEP55 (K303fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1934751	NM_018131.5(CEP55):c.462T>G (p.Thr154=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	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 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1666125	NM_018131.5(CEP55):c.480C>T (p.Phe160=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1636324	NM_018131.5(CEP55):c.295A>G (p.Thr99Ala)	CEP55 (T99A)	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 1599881	NM_018131.5(CEP55):c.680-19G>A	CEP55	Single nucleotide variant (intron variant)	not provided	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 1596387	NM_018131.5(CEP55):c.294_295inv (p.Thr99Ala)	CEP55 (T99A)	Inversion (missense variant)	not provided	GLikely benign
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 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 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 1561146	NM_018131.5(CEP55):c.204T>A (p.Ala68=)	CEP55	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 1561126	NM_018131.5(CEP55):c.730G>C (p.Ala244Pro)	CEP55 (A244P)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
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 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 1374740	NM_018131.5(CEP55):c.626C>T (p.Thr209Met)	CEP55 (T209M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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	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 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 1175779	NM_018131.5(CEP55):c.307C>T (p.Gln103Ter)	CEP55 (Q103*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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
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	GLikely pathogenic
Select item 1027682	NM_018131.5(CEP55):c.1277C>G (p.Pro426Arg)	CEP55 (P426R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 917933	NM_018131.5(CEP55):c.807T>G (p.Tyr269Ter)	CEP55 (Y269*)	Single nucleotide variant (nonsense)	CEP55-related disorder	GLikely pathogenic
Select item 833253	NC_000010.11:g.(?_93161309)_(93797823_?)del	LGI1, MYOF +5 more	Deletion	Autosomal dominant epilepsy with auditory features +1 more	GPathogenic
Select item 815370	GRCh37/hg19 10q23.33(chr10:95234481-95431148)x1	CEP55, RBP4 +4 more	Copy number loss	not provided	GUncertain significance
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 783144	NM_018131.5(CEP55):c.295= (p.Thr99=)	CEP55	Variation (no sequence alteration)	not provided	GBenign
Select item 780885	NM_018131.5(CEP55):c.514A>G (p.Ile172Val)	CEP55 (I172V)	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 758695	NM_018131.5(CEP55):c.1269C>T (p.Ala423=)	CEP55	Single nucleotide variant (synonymous 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 722192	NM_018131.5(CEP55):c.788G>A (p.Ser263Asn)	CEP55 (S263N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 625558	GRCh37/hg19 10q23.33-24.1(chr10:94393383-97219175)	ACSM6, CEP55 +22 more	Copy number loss	not provided	GLikely pathogenic
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 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 563802	GRCh37/hg19 10q23.33-26.3(chr10:94346520-135427143)x3	ABCC2, ABLIM1 +298 more	Copy number gain	not provided	GPathogenic
Select item 562113	NM_018131.5(CEP55):c.514dup (p.Ile172fs)	CEP55 (I172fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 520544	NM_018131.5(CEP55):c.1191+2T>C	CEP55	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 443323	GRCh37/hg19 10q23.32-26.3(chr10:93283493-135427143)x3	ABCC2, ABLIM1 +305 more	Copy number gain	See cases	GPathogenic
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441822	GRCh37/hg19 10q23.32-24.2(chr10:93908171-101809723)x1	ABCC2, ACSM6 +76 more	Copy number loss	See cases	GPathogenic
Select item 437875	NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)	CEP55 (R86*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
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

<< First< Prev

Page of 2