ClinVar for MedGen (Select 766328) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336667	NM_025009.5(CEP135):c.473-1G>C	CEP135	Single nucleotide variant (splice acceptor variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 2439903	NM_025009.5(CEP135):c.1824A>C (p.Lys608Asn)	CEP135 (K608N)	Single nucleotide variant (missense variant)	Microcephaly 8, primary, autosomal recessive	GUncertain significance
Select item 2438985	NM_025009.5(CEP135):c.1980_1984del (p.His661fs)	CEP135 (H661fs)	Microsatellite (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 1705518	NM_025009.5(CEP135):c.3129_3132del (p.Lys1043fs)	CEP135 (K1043fs)	Deletion (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 1526125	NM_025009.5(CEP135):c.3118_3121del (p.Asn1040fs)	CEP135 (N1040fs)	Deletion (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GPathogenic
Select item 1324049	NM_025009.5(CEP135):c.3102del (p.Glu1034fs)	CEP135 (E1034fs)	Deletion (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 1032209	NM_025009.5(CEP135):c.575A>T (p.Asp192Val)	CEP135 (D192V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1032208	NM_025009.5(CEP135):c.231A>C (p.Arg77Ser)	CEP135 (R77S)	Single nucleotide variant (missense variant)	Microcephaly 8, primary, autosomal recessive	GUncertain significance
Select item 1028863	NM_025009.5(CEP135):c.3346C>T (p.Arg1116Ter)	CEP135 (R1116*)	Single nucleotide variant (nonsense)	Microcephaly 8, primary, autosomal recessive	GUncertain significance
Select item 1012269	NM_025009.5(CEP135):c.1376_1379del (p.Lys459fs)	CEP135 (K459fs)	Microsatellite (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GPathogenic
Select item 1012268	NM_025009.5(CEP135):c.2863C>T (p.Arg955Ter)	CEP135 (R955*)	Single nucleotide variant (nonsense)	Microcephaly 8, primary, autosomal recessive	GPathogenic
Select item 982087	NM_025009.5(CEP135):c.2722C>T (p.Arg908Ter)	CEP135 (R908*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 977880	NM_025009.5(CEP135):c.2389C>T (p.Arg797Cys)	CEP135 (R797C)	Single nucleotide variant (missense variant)	Microcephaly 8, primary, autosomal recessive	GLikely benign
Select item 977859	NM_025009.5(CEP135):c.3215+2T>C	CEP135	Single nucleotide variant (splice donor variant)	Microcephaly 8, primary, autosomal recessive	GLikely pathogenic
Select item 977828	NM_025009.5(CEP135):c.3211A>T (p.Lys1071Ter)	CEP135 (K1071*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 720572	NM_025009.5(CEP135):c.2971A>G (p.Met991Val)	CEP135 (M991V)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 694015	NM_025009.5(CEP135):c.993A>T (p.Arg331Ser)	CEP135 (R331S)	Single nucleotide variant (missense variant)	Microcephaly 8, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 694013	NM_025009.5(CEP135):c.2458A>G (p.Asn820Asp)	CEP135 (N820D)	Single nucleotide variant (missense variant)	Microcephaly 8, primary, autosomal recessive	GUncertain significance
Select item 518356	NM_025009.5(CEP135):c.874C>T (p.Arg292Ter)	CEP135 (R292*)	Single nucleotide variant (nonsense)	Microcephaly 8, primary, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 433185	NM_025009.5(CEP135):c.2930_2931del (p.Leu977fs)	CEP135 (L977fs)	Deletion (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GPathogenic
Select item 417785	NM_025009.5(CEP135):c.1473+1G>A	CEP135	Single nucleotide variant (splice donor variant)	Microcephaly 8, primary, autosomal recessive	GPathogenic
Select item 210678	NM_025009.5(CEP135):c.2534T>C (p.Val845Ala)	CEP135 (V845A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 198263	NM_025009.5(CEP135):c.638T>C (p.Val213Ala)	CEP135 (V213A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 31661	NM_025009.5(CEP135):c.970del (p.Gln324fs)	CEP135 (Q324fs)	Deletion (frameshift variant)	Microcephaly 8, primary, autosomal recessive	GPathogenic

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Items: 24