"Fulgent Genetics, Fulgent Genetics"[submitter] AND "CEP152"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 886872	NM_001194998.2(CEP152):c.4616A>G (p.Asn1539Ser)	CEP152 (N1539S +1 more)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GUncertain significance
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 434726	NM_001194998.2(CEP152):c.3934C>T (p.Arg1312Cys)	CEP152 (R1256C +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 316415	NM_001194998.2(CEP152):c.3433C>A (p.Pro1145Thr)	CEP152 (P1145T)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GConflicting classifications of pathogenicity
Select item 1311631	NM_001194998.2(CEP152):c.2984C>T (p.Ala995Val)	CEP152 (A995V)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +2 more	GUncertain significance
Select item 95651	NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)	CEP152 (W960R)	Single nucleotide variant (missense variant)	Seckel syndrome 5 +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 55	NM_001194998.2(CEP152):c.794A>C (p.Gln265Pro)	CEP152 (Q265P)	Single nucleotide variant (missense variant)	CEP152-related disorder +3 more	GPathogenic/Likely pathogenic