Related gene-specific medical variations for Gene (Select 11116) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266214	NM_007045.4(CEP43):c.81C>A (p.Ser27Arg)	CEP43, LOC129997681 (S27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3266213	NM_007045.4(CEP43):c.22G>A (p.Val8Met)	CEP43, LOC129997681 (V8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142948	NM_007045.4(CEP43):c.85G>T (p.Val29Phe)	CEP43, LOC129997681 (V29F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142940	NM_007045.4(CEP43):c.49C>T (p.Arg17Trp)	CEP43, LOC129997681 (R17W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142937	NM_007045.4(CEP43):c.33G>T (p.Glu11Asp)	CEP43, LOC129997681 (E11D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3142929	NM_007045.4(CEP43):c.17C>T (p.Ala6Val)	CEP43, LOC129997681 (A6V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 221459	GRCh37/hg19 6q27(chr6:167412952-167447412)x3	CEP43	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

ClinVar