CEP20[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3142770	NM_144600.4(CEP20):c.518A>G (p.Asn173Ser)	CEP20 (N99S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142769	NM_144600.4(CEP20):c.500A>G (p.His167Arg)	CEP20 (H101R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142768	NM_144600.4(CEP20):c.455A>G (p.His152Arg)	CEP20 (H152R +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142767	NM_144600.4(CEP20):c.423A>T (p.Arg141Ser)	CEP20 (R75S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2530857	NM_144600.4(CEP20):c.401C>T (p.Pro134Leu)	CEP20 (P158L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142766	NM_144600.4(CEP20):c.398A>G (p.Gln133Arg)	CEP20 (Q157R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142765	NM_144600.4(CEP20):c.365T>C (p.Ile122Thr)	CEP20 (I122T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142761	NM_144600.4(CEP20):c.208G>A (p.Ala70Thr)	CEP20 (A70T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142758	NM_144600.4(CEP20):c.128G>C (p.Arg43Pro)	CEP20 (R43P)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142757	NM_144600.4(CEP20):c.118C>T (p.Arg40Cys)	CEP20 (R40C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142756	NM_144600.4(CEP20):c.103G>A (p.Ala35Thr)	CEP20 (A35T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3142755	NM_144600.4(CEP20):c.101A>G (p.Asn34Ser)	CEP20 (N34S)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 3142762	NM_144600.4(CEP20):c.21G>T (p.Leu7Phe)	CEP20 (L7F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142760	NM_144600.4(CEP20):c.17A>G (p.Glu6Gly)	CEP20 (E6G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142759	NM_144600.4(CEP20):c.16G>C (p.Glu6Gln)	CEP20 (E6Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3266123	NM_144600.4(CEP20):c.5C>G (p.Ala2Gly)	CEP20 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142771	NM_144600.4(CEP20):c.5C>T (p.Ala2Val)	CEP20 (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 395367	GRCh37/hg19 16p13.11(chr16:15977824-16012820)x3	CEP20	Copy number gain	See cases	GBenign
Select item 393709	GRCh37/hg19 16p13.11(chr16:15977824-16012829)x3	CEP20	Copy number gain	See cases	GBenign