Related gene-specific medical variations for Gene (Select 10980) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3268972	NM_006833.5(COPS6):c.140T>A (p.Val47Asp)	COPS6, LOC126860123 (V47D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076281	NM_006833.5(COPS6):c.412G>A (p.Val138Ile)	COPS6, LOC126860123 (V138I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076280	NM_006833.5(COPS6):c.20C>T (p.Ala7Val)	COPS6, LOC129998894 (A7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611136	NM_006833.5(COPS6):c.142A>C (p.Ile48Leu)	COPS6, LOC126860123 (I48L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494927	NM_006833.5(COPS6):c.887C>G (p.Thr296Ser)	COPS6, LOC121175353 (T296S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484019	NM_006833.5(COPS6):c.320C>T (p.Thr107Ile)	COPS6, LOC126860123 (T107I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465844	NM_006833.5(COPS6):c.782A>G (p.Tyr261Cys)	COPS6, LOC121175353 (Y261C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371156	NM_006833.5(COPS6):c.877G>A (p.Gly293Ser)	COPS6, LOC121175353 (G293S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161652	NM_006833.5(COPS6):c.631A>C (p.Ser211Arg)	COPS6 (S211R)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance