"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "CEP126" - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 786210	NM_020802.4(CEP126):c.249-7A>C	CEP126	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 774477	NM_020802.4(CEP126):c.436C>G (p.Gln146Glu)	CEP126 (Q146E)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 708405	NM_020802.4(CEP126):c.532G>A (p.Ala178Thr)	CEP126 (A178T)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 786211	NM_020802.4(CEP126):c.678C>T (p.Leu226=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734338	NM_020802.4(CEP126):c.723T>C (p.Val241=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 775093	NM_020802.4(CEP126):c.923A>T (p.His308Leu)	CEP126 (H109L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768476	NM_020802.4(CEP126):c.1114T>C (p.Ser372Pro)	CEP126 (S173P +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 783645	NM_020802.4(CEP126):c.2128C>T (p.Pro710Ser)	CEP126 (P511S +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 725505	NM_020802.4(CEP126):c.2304C>G (p.Gly768=)	CEP126	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773012	NM_020802.4(CEP126):c.3062T>C (p.Met1021Thr)	CEP126 (M822T +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721299	NM_020802.4(CEP126):c.3309+8T>G	CEP126	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427084	NC_000011.9:g.(?_101374735)_(103349981_?)dup	ANGPTL5, BIRC2 +17 more	Duplication	not provided	GUncertain significance
Select item 1455268	NC_000011.9:g.(?_101323686)_(103349981_?)del	ANGPTL5, BIRC2 +17 more	Deletion	not provided	GPathogenic
Select item 1075501	NC_000011.9:g.(?_94153285)_(111965700_?)del	NKAPD1, NPAT +94 more	Deletion	Ataxia-telangiectasia syndrome	GPathogenic