Related gene-specific medical variations for Gene (Select 22870) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3179673	NM_173804.5(TMEM86B):c.212G>A (p.Gly71Glu)	PPP6R1, TMEM86B (G70E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457953	NM_173804.5(TMEM86B):c.100G>A (p.Val34Met)	PPP6R1, TMEM86B (V33M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380271	NM_173804.5(TMEM86B):c.253G>C (p.Ala85Pro)	PPP6R1, TMEM86B (A85P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286138	NM_173804.5(TMEM86B):c.211G>A (p.Gly71Arg)	PPP6R1, TMEM86B (G70R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257883	NM_173804.5(TMEM86B):c.122C>G (p.Pro41Arg)	PPP6R1, TMEM86B (P40R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1330816	NM_014931.4(PPP6R1):c.1008+4_1008+5del	PPP6R1	Deletion (intron variant)	not provided	GUncertain significance

ClinVar