ClinVar for MedGen (Select 462537) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2581151	NM_001194998.2(CEP152):c.1321G>A (p.Gly441Arg)	CEP152 (G441R)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	Gnot provided
Select item 2441881	NM_001194998.2(CEP152):c.2563-11A>G	CEP152	Single nucleotide variant (intron variant)	Seckel syndrome 5	GUncertain significance
Select item 1676670	NM_001194998.2(CEP152):c.4136C>A (p.Ser1379Ter)	CEP152 (S1323* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 9, primary, autosomal recessive	GUncertain significance
Select item 1676669	NM_001194998.2(CEP152):c.2034_2036del (p.Tyr678_Gln679delinsTer)	CEP152	Deletion (nonsense)	not provided	GPathogenic
Select item 1324053	NM_001194998.2(CEP152):c.972+2T>A	CEP152	Single nucleotide variant (splice donor variant)	Microcephaly 9, primary, autosomal recessive +2 more	GLikely pathogenic
Select item 1311631	NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val)	CEP152 (A995V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 931704	NM_001194998.2(CEP152):c.343C>T (p.Arg115Ter)	CEP152 (R115*)	Single nucleotide variant (nonsense)	Seckel syndrome 5 +1 more	GPathogenic/Likely pathogenic
Select item 930905	NM_001194998.2(CEP152):c.528G>A (p.Trp176Ter)	CEP152 (W176*)	Single nucleotide variant (nonsense)	Seckel syndrome 5	GLikely pathogenic
Select item 888416	NM_001194998.2(CEP152):c.87G>A (p.Glu29=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 888415	NM_001194998.2(CEP152):c.133G>C (p.Asp45His)	CEP152 (D45H)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 888276	NM_001194998.2(CEP152):c.2438T>C (p.Ile813Thr)	CEP152 (I813T)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GUncertain significance
Select item 888153	NM_001194998.2(CEP152):c.4242G>A (p.Arg1414=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 888097	NM_001194998.2(CEP152):c.*7T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 887157	NM_001194998.2(CEP152):c.172G>A (p.Glu58Lys)	CEP152 (E58K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 887156	NM_001194998.2(CEP152):c.192A>C (p.Gln64His)	CEP152 (Q64H)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 887083	NM_001194998.2(CEP152):c.1100C>A (p.Thr367Lys)	CEP152 (T367K)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 887082	NM_001194998.2(CEP152):c.1111G>A (p.Glu371Lys)	CEP152 (E371K)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 887012	NM_001194998.2(CEP152):c.2647G>A (p.Glu883Lys)	CEP152 (E883K)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 886873	NM_001194998.2(CEP152):c.4320T>C (p.His1440=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 886872	NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser)	CEP152 (N1539S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +2 more	GUncertain significance
Select item 886822	NM_001194998.2(CEP152):c.*33A>G	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 886821	NM_001194998.2(CEP152):c.*51G>A	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 886141	NM_001194998.2(CEP152):c.438T>A (p.Leu146=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 886140	NM_001194998.2(CEP152):c.638C>T (p.Thr213Ile)	CEP152 (T213I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 886006	NM_001194998.2(CEP152):c.2869C>T (p.Arg957Trp)	CEP152 (R957W)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 885945	NM_001194998.2(CEP152):c.3727C>G (p.Pro1243Ala)	CEP152 (P1187A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 885879	NM_001194998.2(CEP152):c.4738A>G (p.Thr1580Ala)	CEP152 (T1524A +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 885247	NM_001194998.2(CEP152):c.785G>A (p.Ser262Asn)	CEP152 (S262N)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 885171	NM_001194998.2(CEP152):c.1598C>A (p.Pro533Gln)	CEP152 (P533Q)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +2 more	GUncertain significance
Select item 885170	NM_001194998.2(CEP152):c.1650A>G (p.Val550=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 885097	NM_001194998.2(CEP152):c.2939G>A (p.Arg980Gln)	CEP152 (R980Q)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +3 more	GUncertain significance
Select item 885034	NM_001194998.2(CEP152):c.3800G>A (p.Arg1267His)	CEP152 (R1267H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +2 more	GUncertain significance
Select item 884969	NM_001194998.2(CEP152):c.4872T>C (p.Asn1624=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 884968	NM_001194998.2(CEP152):c.4934C>T (p.Thr1645Met)	CEP152 (T1589M +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 781990	NM_001194998.2(CEP152):c.3394C>G (p.Gln1132Glu)	CEP152 (Q1132E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 755782	NM_001194998.2(CEP152):c.2826C>T (p.Asn942=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 522976	NM_001194998.2(CEP152):c.4684G>A (p.Val1562Ile)	CEP152 (V1562I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 497763	NM_001194998.2(CEP152):c.4087C>T (p.Gln1363Ter)	CEP152 (Q1307* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 434726	NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys)	CEP152 (R1256C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 403711	NM_018451.5(CENPJ):c.3936_3939del (p.His1313fs)	CENPJ, RNF17 (H1313fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 5	GPathogenic
Select item 388204	NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln)	CEP152 (K328Q)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +5 more	GConflicting classifications of pathogenicity
Select item 384842	NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro)	CEP152 (R1530P +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +4 more	GConflicting classifications of pathogenicity
Select item 316439	NM_014985.3(CEP152):c.-164T>C	CEP152	Single nucleotide variant	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316438	NM_014985.3(CEP152):c.-130C>T	CEP152	Single nucleotide variant	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316437	NM_001194998.2(CEP152):c.-105G>A	CEP152	Single nucleotide variant (5 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316436	NM_001194998.2(CEP152):c.-94A>G	CEP152	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign
Select item 316435	NM_001194998.2(CEP152):c.-77G>C	CEP152	Single nucleotide variant (5 prime UTR variant)	Seckel syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 316434	NM_001194998.2(CEP152):c.-10C>G	CEP152	Single nucleotide variant (5 prime UTR variant)	Seckel syndrome 5 +1 more	GUncertain significance
Select item 316433	NM_001194998.2(CEP152):c.4T>A (p.Ser2Thr)	CEP152 (S2T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316432	NM_001194998.2(CEP152):c.35T>C (p.Val12Ala)	CEP152 (V12A)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GUncertain significance
Select item 316431	NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)	CEP152 (S215N)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 316430	NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)	CEP152 (I256T)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 316429	NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)	CEP152 (K309Q)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +5 more	GConflicting classifications of pathogenicity
Select item 316428	NM_001194998.2(CEP152):c.930A>T (p.Ala310=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316427	NM_001194998.2(CEP152):c.962A>G (p.Asn321Ser)	CEP152 (N321S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 316426	NM_001194998.2(CEP152):c.1153G>T (p.Val385Phe)	CEP152 (V385F)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316425	NM_001194998.2(CEP152):c.1185C>T (p.Cys395=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316424	NM_001194998.2(CEP152):c.1258A>T (p.Ile420Phe)	CEP152 (I420F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 316422	NM_001194998.2(CEP152):c.2041C>T (p.His681Tyr)	CEP152 (H681Y)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316421	NM_001194998.2(CEP152):c.2523T>G (p.Ile841Met)	CEP152 (I841M)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316420	NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg)	CEP152 (Q935R)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +3 more	GBenign/Likely benign
Select item 316419	NM_001194998.2(CEP152):c.2901A>G (p.Glu967=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316418	NM_001194998.2(CEP152):c.2928G>A (p.Glu976=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 316417	NM_001194998.2(CEP152):c.3324C>T (p.Asn1108=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316416	NM_001194998.2(CEP152):c.3378C>T (p.Ala1126=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 316415	NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr)	CEP152 (P1145T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 316413	NM_001194998.2(CEP152):c.3779G>A (p.Gly1260Glu)	CEP152 (G1204E +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 316412	NM_001194998.2(CEP152):c.3780G>C (p.Gly1260=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 316411	NM_001194998.2(CEP152):c.3911G>A (p.Arg1304His)	CEP152 (R1304H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316410	NM_001194998.2(CEP152):c.4175T>C (p.Ile1392Thr)	CEP152 (I1336T +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 316409	NM_001194998.2(CEP152):c.4425G>A (p.Leu1475=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 316408	NM_001194998.2(CEP152):c.4985A>G (p.His1662Arg)	CEP152 (H1662R +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316407	NM_001194998.2(CEP152):c.5008G>C (p.Asp1670His)	CEP152 (D1670H +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316406	NM_001194998.2(CEP152):c.*73A>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Microcephaly 9, primary, autosomal recessive +1 more	GUncertain significance
Select item 316405	NM_001194998.2(CEP152):c.*170T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +2 more	GBenign/Likely benign
Select item 316404	NM_001194998.2(CEP152):c.*194G>A	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +2 more	GBenign/Likely benign
Select item 316402	NM_001194998.2(CEP152):c.*255T>C	CEP152	Single nucleotide variant (3 prime UTR variant)	Seckel syndrome 5 +1 more	GConflicting classifications of pathogenicity
Select item 210688	NM_001194998.2(CEP152):c.4365_4376delinsGTT (p.Ser1455_Asn1459delinsArgPhe)	CEP152	Indel (inframe_indel)	Seckel syndrome 5 +2 more	GUncertain significance
Select item 158274	NM_001194998.2(CEP152):c.833-4G>A	CEP152	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 158272	NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 158270	NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu)	CEP152 (P1637L +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 158269	NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=)	CEP152	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 158267	NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +4 more	GBenign/Likely benign
Select item 158266	NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)	CEP152 (S1526P +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 158263	NM_001194998.2(CEP152):c.4299T>C (p.His1433=)	CEP152	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 158262	NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)	CEP152 (Q1302E +1 more)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 158257	NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)	CEP152 (R115Q)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 158256	NM_001194998.2(CEP152):c.3429T>G (p.Ala1143=)	CEP152	Single nucleotide variant (synonymous variant)	Microcephaly 9, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 158254	NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala)	CEP152 (V1106A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 158253	NM_001194998.2(CEP152):c.3313C>G (p.Leu1105Val)	CEP152 (L1105V)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +4 more	GConflicting classifications of pathogenicity
Select item 158252	NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr)	CEP152 (C1093Y)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 158246	NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)	CEP152 (E926V)	Single nucleotide variant (missense variant)	Microcephaly 9, primary, autosomal recessive +3 more	GConflicting classifications of pathogenicity
Select item 158245	NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)	CEP152 (S894F)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 158242	NM_001194998.2(CEP152):c.2262G>A (p.Glu754=)	CEP152	Single nucleotide variant (synonymous variant)	Seckel syndrome 5 +3 more	GConflicting classifications of pathogenicity
Select item 158240	NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	CEP152 (Y678*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 158236	NM_001194998.2(CEP152):c.191+11G>A	CEP152	Single nucleotide variant (intron variant)	Microcephaly 9, primary, autosomal recessive +3 more	GBenign
Select item 158234	NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)	CEP152	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158230	NM_001194998.2(CEP152):c.1578-6C>G	CEP152	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158229	NM_001194998.2(CEP152):c.1577+6G>A	CEP152	Single nucleotide variant (intron variant)	Microcephaly 9, primary, autosomal recessive +4 more	GBenign/Likely benign
Select item 158226	NM_001194998.2(CEP152):c.133G>A (p.Asp45Asn)	CEP152 (D45N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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