Related gene-specific medical variations for Gene (Select 22897) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244666	NC_000011.9:g.(?_117257917)_(117260475_?)del	CEP164	Deletion	Nephronophthisis 15	GUncertain significance
Select item 1047435	NC_000011.9:g.(?_117233107)_117234066del	CEP164	Deletion	Nephronophthisis 15	GUncertain significance
Select item 930259	NM_014956.5(CEP164):c.276T>G (p.Tyr92Ter)	CEP164 (Y92*)	Single nucleotide variant (nonsense)	Nephronophthisis 15	GLikely pathogenic
Select item 866436	NM_014956.5(CEP164):c.470del (p.Pro157fs)	CEP164 (P157fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 591151	NM_014956.5(CEP164):c.1480_1482delinsACC (p.Pro494Thr)	CEP164 (P494T +1 more)	Indel (missense variant)	not provided	GUncertain significance

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