Related gene-specific medical variations for Gene (Select 8859) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3274130	NM_005510.4(DXO):c.320T>G (p.Leu107Arg)	DXO, STK19 (L107R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2656433	NM_004197.1(STK19):c.125C>T (p.Ala42Val)	DXO, STK19 (A42V)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2478859	NM_005510.4(DXO):c.236G>A (p.Gly79Asp)	DXO, STK19 (G79D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2476615	NM_005510.4(DXO):c.308T>C (p.Leu103Pro)	DXO, STK19 (L103P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2304956	NM_005510.4(DXO):c.59A>G (p.Asn20Ser)	DXO, STK19 (N20S)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2285385	NM_005510.4(DXO):c.191C>A (p.Ala64Asp)	DXO, STK19 (A64D)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2217220	NM_005510.4(DXO):c.165T>G (p.Asp55Glu)	DXO, STK19 (D55E)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2213639	NM_032454.1(STK19):c.112G>A (p.Val38Met)	DXO, STK19 (V38M)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 76320	NM_004197.1(STK19):c.265G>A (p.Asp89Asn)	STK19 (D89N)	Single nucleotide variant (missense variant +1 more)	Squamous cell carcinoma of the skin +1 more	GLikely pathogenic