Related gene-specific medical variations for Gene (Select 11070) - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3178447	NM_007024.5(TMEM115):c.735C>G (p.Ser245Arg)	CYB561D2, LOC127898564 +1 more (S245R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178446	NM_007024.5(TMEM115):c.668C>G (p.Ala223Gly)	CYB561D2, LOC127898564 +1 more (A223G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3178444	NM_007024.5(TMEM115):c.1046C>T (p.Pro349Leu)	CYB561D2, LOC127898564 +1 more (P349L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593043	NM_007024.5(TMEM115):c.83C>T (p.Ala28Val)	CYB561D2, LOC127898564 +1 more (A28V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567207	NM_007024.5(TMEM115):c.1043C>T (p.Pro348Leu)	CYB561D2, LOC127898564 +1 more (P348L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554818	NM_007024.5(TMEM115):c.542G>A (p.Arg181Gln)	CYB561D2, LOC127898564 +1 more (R181Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2544020	NM_007024.5(TMEM115):c.466T>C (p.Cys156Arg)	CYB561D2, LOC127898564 +1 more (C156R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495808	NM_007024.5(TMEM115):c.227C>T (p.Ala76Val)	CYB561D2, LOC127898564 +1 more (A76V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410583	NM_007024.5(TMEM115):c.596T>C (p.Leu199Pro)	CYB561D2, LOC127898564 +1 more (L199P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406997	NM_007024.5(TMEM115):c.496G>A (p.Val166Ile)	CYB561D2, LOC127898564 +1 more (V166I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389737	NM_007024.5(TMEM115):c.983C>T (p.Pro328Leu)	CYB561D2, LOC127898564 +1 more (P328L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321298	NM_007024.5(TMEM115):c.724T>G (p.Leu242Val)	CYB561D2, LOC127898564 +1 more (L242V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285918	NM_007024.5(TMEM115):c.1018A>T (p.Ser340Cys)	CYB561D2, LOC127898564 +1 more (S340C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance