"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PTPRT"[gen - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2652338	NM_007050.6(PTPRT):c.4151G>A (p.Arg1384His)	PTPRT (R1384H +2 more)	Single nucleotide variant (missense variant)	PTPRT-related condition +1 more	GBenign/Likely benign
Select item 2652339	NM_007050.6(PTPRT):c.3313G>A (p.Glu1105Lys)	PTPRT (E1104K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652340	NM_007050.6(PTPRT):c.2281C>G (p.Leu761Val)	PTPRT (L761V +1 more)	Single nucleotide variant (missense variant)	PTPRT-related condition +1 more	GBenign/Likely benign
Select item 2652341	NM_007050.6(PTPRT):c.1658T>C (p.Phe553Ser)	PTPRT (F553S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2652342	NM_007050.6(PTPRT):c.1488G>C (p.Gly496=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related condition +1 more	GLikely benign
Select item 2652343	NM_007050.6(PTPRT):c.1306G>A (p.Glu436Lys)	PTPRT (E436K)	Single nucleotide variant (missense variant)	PTPRT-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2652344	NM_007050.6(PTPRT):c.1122G>C (p.Gly374=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711677	NM_007050.6(PTPRT):c.645T>A (p.Ala215=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related condition +1 more	GBenign/Likely benign
Select item 547124	GRCh37/hg19 20q12(chr20:41532089-41634727)x3	PTPRT	Copy number gain	not provided	GLikely benign