"Eurofins Ntd Llc (ga)"[submitter] AND "CEP152"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31033	NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)	CEP152 (V1404fs +1 more)	Deletion (frameshift variant)	not specified +1 more	GBenign/Likely benign
Select item 434734	NM_001194998.2(CEP152):c.4292T>C (p.Ile1431Thr)	CEP152 (I1375T +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 95654	NM_001194998.2(CEP152):c.4094-9A>T	CEP152	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
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 158262	NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)	CEP152 (Q1302E +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 95653	NM_001194998.2(CEP152):c.3466+8G>C	CEP152	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 95652	NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)	CEP152 (A1109P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 596369	NM_001194998.2(CEP152):c.2920C>A (p.Gln974Lys)	CEP152 (Q974K)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 95651	NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)	CEP152 (W960R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158240	NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)	CEP152 (Y678*)	Single nucleotide variant (nonsense)	Seckel syndrome 5 +4 more	GPathogenic/Likely pathogenic
Select item 158224	NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)	CEP152 (I394V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 388204	NM_001194998.2(CEP152):c.982A>C (p.Lys328Gln)	CEP152 (K328Q)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 316429	NM_001194998.2(CEP152):c.925A>C (p.Lys309Gln)	CEP152 (K309Q)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 316430	NM_001194998.2(CEP152):c.767T>C (p.Ile256Thr)	CEP152 (I256T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 136720	NM_001194998.2(CEP152):c.691+9C>T	CEP152	Single nucleotide variant (intron variant)	Microcephaly 9, primary, autosomal recessive +3 more	GBenign
Select item 316431	NM_001194998.2(CEP152):c.644G>A (p.Ser215Asn)	CEP152 (S215N)	Single nucleotide variant (missense variant)	not specified +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)	not specified +3 more	GConflicting classifications of pathogenicity