Related gene-specific medical variations for Gene (Select 267020) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3131804	NM_001165877.1(ATP5MGL):c.85G>A (p.Ala29Thr)	ATP5MGL, CYB5R3 (A29T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3131803	NM_001165877.1(ATP5MGL):c.80T>C (p.Leu27Ser)	ATP5MGL, CYB5R3 (L27S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131802	NM_001165877.1(ATP5MGL):c.79T>A (p.Leu27Met)	ATP5MGL, CYB5R3 (L27M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131801	NM_001165877.1(ATP5MGL):c.287G>C (p.Arg96Pro)	ATP5MGL, CYB5R3 (R96P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131800	NM_001165877.1(ATP5MGL):c.287G>A (p.Arg96His)	ATP5MGL, CYB5R3 (R96H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131799	NM_001165877.1(ATP5MGL):c.217G>A (p.Ala73Thr)	ATP5MGL, CYB5R3 (A73T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131798	NM_001165877.1(ATP5MGL):c.208G>A (p.Val70Ile)	ATP5MGL, CYB5R3 (V70I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131797	NM_001165877.1(ATP5MGL):c.139C>T (p.Pro47Ser)	ATP5MGL, CYB5R3 (P47S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131796	NM_001165877.1(ATP5MGL):c.139C>G (p.Pro47Ala)	ATP5MGL, CYB5R3 (P47A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653259	NM_001165877.1(ATP5MGL):c.300C>G (p.Gly100=)	ATP5MGL, CYB5R3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2486529	NM_001165877.1(ATP5MGL):c.103A>G (p.Thr35Ala)	ATP5MGL, CYB5R3 (T35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance