"PreventionGenetics, part of Exact Sciences"[submitter] AND "PTPRT"[ge - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046011	NM_007050.6(PTPRT):c.4290A>G (p.Val1430=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 2652338	NM_007050.6(PTPRT):c.4151G>A (p.Arg1384His)	PTPRT (R1384H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 3056155	NM_007050.6(PTPRT):c.4136+8C>T	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 3053373	NM_007050.6(PTPRT):c.4038G>A (p.Thr1346=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 3048700	NM_007050.6(PTPRT):c.3883T>A (p.Cys1295Ser)	PTPRT (C1295S +2 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GLikely benign
Select item 3060307	NM_007050.6(PTPRT):c.3861C>T (p.Tyr1287=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GBenign
Select item 737495	NM_007050.6(PTPRT):c.3745A>G (p.Thr1249Ala)	PTPRT (T1249A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 730922	NM_007050.6(PTPRT):c.3630C>T (p.Asp1210=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GLikely benign
Select item 3044785	NM_007050.6(PTPRT):c.3622A>G (p.Ser1208Gly)	PTPRT (S1207G +3 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GLikely benign
Select item 708273	NM_007050.6(PTPRT):c.3345C>T (p.Cys1115=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign/Likely benign
Select item 727566	NM_007050.6(PTPRT):c.3159C>T (p.His1053=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 3059599	NM_007050.6(PTPRT):c.3099+10T>C	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 780075	NM_007050.6(PTPRT):c.2993T>C (p.Val998Ala)	PTPRT (V998A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 790217	NM_007050.6(PTPRT):c.2940C>T (p.Ser980=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 769091	NM_007050.6(PTPRT):c.2797G>C (p.Val933Leu)	PTPRT (V933L +1 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder +1 more	GBenign
Select item 3044302	NM_007050.6(PTPRT):c.2788A>C (p.Arg930=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 3033796	NM_007050.6(PTPRT):c.2683-9G>T	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 778882	NM_007050.6(PTPRT):c.2514T>C (p.Leu838=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 769092	NM_007050.6(PTPRT):c.2437G>A (p.Ala813Thr)	PTPRT (A832T +1 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder +1 more	GBenign
Select item 2652340	NM_007050.6(PTPRT):c.2281C>G (p.Leu761Val)	PTPRT (L761V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2633669	NM_007050.6(PTPRT):c.2203G>A (p.Val735Met)	PTPRT (V735M +1 more)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GUncertain significance
Select item 734405	NM_007050.6(PTPRT):c.2176+12068A>C	PTPRT (T737P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 3044271	NM_007050.6(PTPRT):c.2151C>T (p.Ile717=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 3047530	NM_007050.6(PTPRT):c.2049C>T (p.Asp683=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 3047760	NM_007050.6(PTPRT):c.1974C>T (p.Leu658=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 781565	NM_007050.6(PTPRT):c.1713A>G (p.Ala571=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3053559	NM_007050.6(PTPRT):c.1584G>A (p.Ser528=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 2652342	NM_007050.6(PTPRT):c.1488G>C (p.Gly496=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 782060	NM_007050.6(PTPRT):c.1434G>A (p.Val478=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3034512	NM_007050.6(PTPRT):c.1401C>T (p.Pro467=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 2652343	NM_007050.6(PTPRT):c.1306G>A (p.Glu436Lys)	PTPRT (E436K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 782061	NM_007050.6(PTPRT):c.1305C>T (p.Tyr435=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 782062	NM_007050.6(PTPRT):c.1195A>C (p.Arg399=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 708848	NM_007050.6(PTPRT):c.1186G>A (p.Val396Ile)	PTPRT (V396I)	Single nucleotide variant (missense variant)	PTPRT-related disorder +1 more	GBenign
Select item 3056949	NM_007050.6(PTPRT):c.1176C>T (p.Asn392=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GBenign
Select item 782063	NM_007050.6(PTPRT):c.1161A>G (p.Val387=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3056683	NM_007050.6(PTPRT):c.1154-10T>C	PTPRT	Single nucleotide variant (intron variant)	PTPRT-related disorder	GBenign
Select item 1226281	NM_007050.6(PTPRT):c.1059T>C (p.Asp353=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3045367	NM_007050.6(PTPRT):c.1056C>T (p.Pro352=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GLikely benign
Select item 769093	NM_007050.6(PTPRT):c.726G>A (p.Val242=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 2633201	NM_007050.6(PTPRT):c.694G>A (p.Gly232Ser)	PTPRT (G232S)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GUncertain significance
Select item 711677	NM_007050.6(PTPRT):c.645T>A (p.Ala215=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign/Likely benign
Select item 709306	NM_007050.6(PTPRT):c.456C>T (p.Ala152=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 790218	NM_007050.6(PTPRT):c.405G>C (p.Val135=)	PTPRT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3053800	NM_007050.6(PTPRT):c.141A>G (p.Leu47=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GBenign
Select item 778883	NM_007050.6(PTPRT):c.120C>T (p.Asn40=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 784410	NM_007050.6(PTPRT):c.114C>T (p.Tyr38=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder +1 more	GBenign
Select item 3039069	NM_007050.6(PTPRT):c.102T>C (p.Phe34=)	PTPRT	Single nucleotide variant (synonymous variant)	PTPRT-related disorder	GBenign
Select item 3059128	NM_007050.6(PTPRT):c.85G>C (p.Ala29Pro)	PTPRT (A29P)	Single nucleotide variant (missense variant)	PTPRT-related disorder	GBenign

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Items: 49