"PreventionGenetics, part of Exact Sciences"[submitter] AND "PTPN14"[g - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 788721	NM_005401.5(PTPN14):c.2514C>T (p.Asp838=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder +1 more	GBenign/Likely benign
Select item 718897	NM_005401.5(PTPN14):c.2002C>T (p.Arg668Cys)	PTPN14 (R668C)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3033663	NM_005401.5(PTPN14):c.1563T>C (p.Asn521=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3041403	NM_005401.5(PTPN14):c.1515C>T (p.Val505=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3041618	NM_005401.5(PTPN14):c.1471C>T (p.Arg491Trp)	PTPN14 (R491W)	Single nucleotide variant (missense variant)	PTPN14-related disorder	GLikely benign
Select item 3057391	NM_005401.5(PTPN14):c.1152C>A (p.Thr384=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign
Select item 3034148	NM_005401.5(PTPN14):c.1067-4G>A	PTPN14	Single nucleotide variant (intron variant)	PTPN14-related disorder	GLikely benign
Select item 722335	NM_005401.5(PTPN14):c.1059C>T (p.Thr353=)	PTPN14	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1295138	NM_005401.5(PTPN14):c.566A>G (p.Glu189Gly)	PTPN14 (E189G)	Single nucleotide variant (missense variant)	PTPN14-related disorder +1 more	GBenign
Select item 3029983	NM_005401.5(PTPN14):c.139C>T (p.Leu47=)	PTPN14	Single nucleotide variant (synonymous variant)	PTPN14-related disorder	GLikely benign