"Ambry Genetics"[submitter] AND "PTPRN"[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322517	NM_002846.4(PTPRN):c.2900C>T (p.Ala967Val)	PTPRN (A877V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149516	NM_002846.4(PTPRN):c.2896G>A (p.Val966Met)	PTPRN (V937M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485502	NM_002846.4(PTPRN):c.2861G>A (p.Arg954His)	PTPRN (R864H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149515	NM_002846.4(PTPRN):c.2766C>G (p.Ile922Met)	PTPRN (I922M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149514	NM_002846.4(PTPRN):c.2716A>G (p.Ile906Val)	PTPRN (I816V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149513	NM_002846.4(PTPRN):c.2615T>A (p.Phe872Tyr)	LOC120977025, PTPRN (F872Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149512	NM_002846.4(PTPRN):c.2582C>A (p.Thr861Asn)	LOC120977025, PTPRN (T861N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149511	NM_002846.4(PTPRN):c.2576T>G (p.Val859Gly)	LOC120977025, PTPRN (V859G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208256	NM_002846.4(PTPRN):c.2503T>C (p.Tyr835His)	PTPRN (Y745H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149510	NM_002846.4(PTPRN):c.2414T>A (p.Val805Asp)	PTPRN (V715D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278292	NM_002846.4(PTPRN):c.2390T>C (p.Met797Thr)	PTPRN (M768T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149509	NM_002846.4(PTPRN):c.2369C>T (p.Thr790Ile)	PTPRN (T700I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389334	NM_002846.4(PTPRN):c.2251A>G (p.Ile751Val)	PTPRN (I722V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619577	NM_002846.4(PTPRN):c.2186C>T (p.Ala729Val)	PTPRN (A639V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462631	NM_002846.4(PTPRN):c.2158C>G (p.Gln720Glu)	PTPRN (Q630E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515713	NM_002846.4(PTPRN):c.2123G>A (p.Arg708His)	PTPRN (R618H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599570	NM_002846.4(PTPRN):c.2116C>T (p.Arg706Trp)	PTPRN (R677W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621907	NM_002846.4(PTPRN):c.2090C>T (p.Ala697Val)	PTPRN (A607V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149508	NM_002846.4(PTPRN):c.2072C>T (p.Thr691Met)	PTPRN (T691M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280277	NM_002846.4(PTPRN):c.1940G>C (p.Gly647Ala)	PTPRN (G647A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261276	NM_002846.4(PTPRN):c.1933G>A (p.Ala645Thr)	PTPRN (A645T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149507	NM_002846.4(PTPRN):c.1898G>A (p.Arg633His)	PTPRN (R543H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149505	NM_002846.4(PTPRN):c.1798G>A (p.Val600Met)	PTPRN (V510M +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2268136	NM_002846.4(PTPRN):c.1792C>G (p.Leu598Val)	PTPRN (L569V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376697	NM_002846.4(PTPRN):c.1724G>A (p.Arg575His)	PTPRN (R485H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149503	NM_002846.4(PTPRN):c.1721T>C (p.Met574Thr)	PTPRN (M484T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487348	NM_002846.4(PTPRN):c.1657G>A (p.Gly553Arg)	PTPRN (G524R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316461	NM_002846.4(PTPRN):c.1572C>G (p.Asn524Lys)	PTPRN (N495K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411380	NM_002846.4(PTPRN):c.1555C>T (p.Arg519Trp)	PTPRN (R429W +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282386	NM_002846.4(PTPRN):c.1546T>C (p.Phe516Leu)	PTPRN (F516L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377614	NM_002846.4(PTPRN):c.1544C>T (p.Thr515Ile)	PTPRN (T425I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149502	NM_002846.4(PTPRN):c.1446C>A (p.Ser482Arg)	PTPRN (S482R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149501	NM_002846.4(PTPRN):c.1420A>G (p.Ile474Val)	PTPRN (I474V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515600	NM_002846.4(PTPRN):c.1394G>A (p.Arg465His)	PTPRN (R465H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328586	NM_002846.4(PTPRN):c.1213A>G (p.Thr405Ala)	PTPRN (T315A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378803	NM_002846.4(PTPRN):c.1211G>A (p.Arg404His)	PTPRN (R314H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149500	NM_002846.4(PTPRN):c.1191C>A (p.Asp397Glu)	PTPRN (D307E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149499	NM_002846.4(PTPRN):c.1190A>T (p.Asp397Val)	PTPRN (D307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149498	NM_002846.4(PTPRN):c.1124C>T (p.Pro375Leu)	PTPRN (P285L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2395966	NM_002846.4(PTPRN):c.1018G>A (p.Ala340Thr)	PTPRN (A340T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613765	NM_002846.4(PTPRN):c.964G>A (p.Glu322Lys)	PTPRN (E232K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149527	NM_002846.4(PTPRN):c.923C>A (p.Ser308Tyr)	PTPRN (S308Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149526	NM_002846.4(PTPRN):c.911G>A (p.Arg304Gln)	PTPRN (R214Q +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2224191	NM_002846.4(PTPRN):c.880C>T (p.Pro294Ser)	PTPRN (P204S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149525	NM_002846.4(PTPRN):c.870G>C (p.Arg290Ser)	PTPRN (R200S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149524	NM_002846.4(PTPRN):c.824A>C (p.Asp275Ala)	PTPRN (D185A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149523	NM_002846.4(PTPRN):c.784G>A (p.Gly262Arg)	PTPRN (G262R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149522	NM_002846.4(PTPRN):c.746C>G (p.Ser249Cys)	PTPRN (S159C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149521	NM_002846.4(PTPRN):c.745T>G (p.Ser249Ala)	PTPRN (S159A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269322	NM_002846.4(PTPRN):c.650G>A (p.Arg217His)	PTPRN (R217H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149520	NM_002846.4(PTPRN):c.613T>G (p.Leu205Val)	PTPRN (L115V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468597	NM_002846.4(PTPRN):c.502G>A (p.Gly168Arg)	PTPRN (G168R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149519	NM_002846.4(PTPRN):c.491A>G (p.Lys164Arg)	PTPRN (K74R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3149518	NM_002846.4(PTPRN):c.449C>T (p.Ala150Val)	PTPRN (A150V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149517	NM_002846.4(PTPRN):c.386T>C (p.Leu129Ser)	PTPRN (L39S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292263	NM_002846.4(PTPRN):c.371G>C (p.Arg124Thr)	PTPRN (R34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316124	NM_002846.4(PTPRN):c.263G>A (p.Arg88Gln)	PTPRN (R88Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149506	NM_002846.4(PTPRN):c.188A>G (p.Gln63Arg)	PTPRN (Q63R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240120	NM_002846.4(PTPRN):c.31G>A (p.Gly11Arg)	PTPRN (G11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 59