"GeneDx"[submitter] AND "PTPN4"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 986785	NM_002830.4(PTPN4):c.191T>G (p.Leu64Trp)	PTPN4 (L64W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984725	NM_002830.4(PTPN4):c.393_396del (p.Gln132fs)	PTPN4 (Q132fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1313389	NM_002830.4(PTPN4):c.659A>C (p.Glu220Ala)	PTPN4 (E220A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984726	NM_002830.4(PTPN4):c.715G>A (p.Gly239Arg)	PTPN4 (G239R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1292039	NM_002830.4(PTPN4):c.1656+16G>T	PTPN4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 984744	NM_002830.4(PTPN4):c.2423G>A (p.Arg808His)	PTPN4 (R808H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308817	NM_002830.4(PTPN4):c.2465G>A (p.Gly822Glu)	PTPN4 (G822E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984797	NM_002830.4(PTPN4):c.2512C>T (p.Arg838Ter)	PTPN4 (R838*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 253388	GRCh37/hg19 2q12.3-14.3(chr2:109798247-125658380)x1	RGPD8, ACTR3 +63 more	Copy number loss	See cases	GPathogenic

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