"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PPP6R2"[ge - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2369787	NM_001242898.2(PPP6R2):c.1285G>A (p.Glu429Lys)	PPP6R2 (E267K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2653381	NM_001242898.2(PPP6R2):c.1401-535C>T	PPP6R2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2653382	NM_001242898.2(PPP6R2):c.1421G>A (p.Arg474His)	PPP6R2 (R312H +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3024724	NM_001242898.2(PPP6R2):c.1594G>A (p.Val532Met)	PPP6R2 (V370M +3 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653383	NM_001242898.2(PPP6R2):c.1770C>T (p.Asp590=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653384	NM_001242898.2(PPP6R2):c.1929C>T (p.Asp643=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653385	NM_001242898.2(PPP6R2):c.2345G>A (p.Gly782Asp)	PPP6R2 (G593D +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2653386	NM_001242898.2(PPP6R2):c.2478C>T (p.Gly826=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2653387	NM_001242898.2(PPP6R2):c.2508G>A (p.Ala836=)	PPP6R2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3024623	GRCh37/hg19 22q13.33(chr22:49479980-51304566)x1	ACR, ADM2 +34 more	Copy number loss	not provided	GPathogenic
Select item 3024622	GRCh37/hg19 22q13.32-13.33(chr22:49103529-51220722)x1	ACR, ADM2 +35 more	Copy number loss	not provided	GPathogenic
Select item 2672923	GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1	ACR, ADM2 +71 more	Copy number loss	not provided	GPathogenic