Related gene-specific medical variations for Gene (Select 9701) - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3309576	NM_001242898.2(PPP6R2):c.2852A>G (p.Glu951Gly)	LOC130067853, PPP6R2 (E923G +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3309568	NM_001242898.2(PPP6R2):c.313C>G (p.Leu105Val)	LOC126863186, PPP6R2 (L105V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3217915	NM_001242898.2(PPP6R2):c.2797A>G (p.Met933Val)	LOC130067853, PPP6R2 (M905V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593805	NM_001242898.2(PPP6R2):c.2847G>A (p.Pro949=)	LOC130067853, PPP6R2 (R922H)	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 2386731	NM_001242898.2(PPP6R2):c.2788G>A (p.Ala930Thr)	LOC130067853, PPP6R2 (A904T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332820	NM_001242898.2(PPP6R2):c.2839G>C (p.Asp947His)	LOC130067853, PPP6R2 (D948H +8 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271712	NM_001242898.2(PPP6R2):c.286C>G (p.Leu96Val)	LOC126863186, PPP6R2 (L96V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1340183	GRCh37/hg19 22q13.33(chr22:50788195-50871043)x1	PPP6R2	Copy number loss	not provided	GUncertain significance
Select item 1120017	NM_001242898.2(PPP6R2):c.228-326A>G	PPP6R2, LOC126863186	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 4B3	GPathogenic
Select item 685318	GRCh37/hg19 22q13.33(chr22:50791825-50849203)x3	PPP6R2	Copy number gain	not provided	GUncertain significance
Select item 161576	NM_001242898.2(PPP6R2):c.2350C>T (p.Arg784Trp)	PPP6R2 (R784W +6 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance