Related gene-specific medical variations for Gene (Select 55274) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3306111	NM_018288.4(PHF10):c.38C>T (p.Pro13Leu)	LOC129997711, PHF10 (P13L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3306110	NM_018288.4(PHF10):c.1385G>A (p.Cys462Tyr)	C6orf120, PHF10 (C460Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212064	NM_018288.4(PHF10):c.43C>G (p.Pro15Ala)	LOC129997711, PHF10 (P15A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212063	NM_018288.4(PHF10):c.37C>T (p.Pro13Ser)	LOC129997711, PHF10 (P13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212062	NM_018288.4(PHF10):c.26C>T (p.Ala9Val)	LOC129997711, PHF10 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212061	NM_018288.4(PHF10):c.1483A>C (p.Ser495Arg)	C6orf120, PHF10 (S495R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212060	NM_018288.4(PHF10):c.1441G>C (p.Ala481Pro)	C6orf120, PHF10 (A479P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3212059	NM_018288.4(PHF10):c.1327C>T (p.His443Tyr)	C6orf120, PHF10 (H441Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2657145	NM_018288.4(PHF10):c.1218T>C (p.Asn406=)	C6orf120, PHF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2557284	NM_018288.4(PHF10):c.1196T>C (p.Ile399Thr)	C6orf120, PHF10 (I397T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2545143	NM_018288.4(PHF10):c.22G>A (p.Gly8Arg)	LOC129997711, PHF10 (G8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480593	NM_018288.4(PHF10):c.1415G>T (p.Arg472Leu)	C6orf120, PHF10 (R472L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2458837	NM_018288.4(PHF10):c.1415G>A (p.Arg472His)	C6orf120, PHF10 (R472H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2394780	NM_018288.4(PHF10):c.1262C>T (p.Ser421Phe)	C6orf120, PHF10 (S421F +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2383864	NM_018288.4(PHF10):c.1135A>C (p.Ile379Leu)	C6orf120, PHF10 (I377L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2382443	NM_018288.4(PHF10):c.44C>T (p.Pro15Leu)	LOC129997711, PHF10 (P15L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379003	NM_018288.4(PHF10):c.71G>A (p.Gly24Glu)	LOC129997711, PHF10 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712642	NM_018288.4(PHF10):c.1209A>G (p.Gln403=)	C6orf120, PHF10	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign