PTPRM[gene] and "single gene"[properties] - ClinVar

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Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3046402	NM_001105244.2(PTPRM):c.75T>C (p.Gly25=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 2277830	NM_001105244.2(PTPRM):c.98A>G (p.Tyr33Cys)	PTPRM (Y33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773336	NM_001105244.2(PTPRM):c.117T>A (p.Ser39Arg)	PTPRM (S39R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 722994	NM_001105244.2(PTPRM):c.135C>T (p.Asp45=)	PTPRM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2308412	NM_001105244.2(PTPRM):c.140A>G (p.Asn47Ser)	PTPRM (N47S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3058707	NM_001105244.2(PTPRM):c.147G>A (p.Glu49=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 2272748	NM_001105244.2(PTPRM):c.166A>G (p.Lys56Glu)	PTPRM (K56E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351240	NM_001105244.2(PTPRM):c.208C>A (p.Leu70Met)	PTPRM (L70M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609609	NM_001105244.2(PTPRM):c.323A>G (p.Asn108Ser)	PTPRM (N108S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336055	NM_001105244.2(PTPRM):c.377G>A (p.Gly126Glu)	PTPRM (G126E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3051443	NM_001105244.2(PTPRM):c.399T>C (p.Ser133=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 3149490	NM_001105244.2(PTPRM):c.407C>A (p.Pro136Gln)	PTPRM (P136Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149492	NM_001105244.2(PTPRM):c.422A>G (p.Asn141Ser)	PTPRM (N141S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149494	NM_001105244.2(PTPRM):c.503G>C (p.Gly168Ala)	PTPRM (G168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149495	NM_001105244.2(PTPRM):c.514A>G (p.Ile172Val)	PTPRM (I172V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519835	NM_001105244.2(PTPRM):c.526A>C (p.Lys176Gln)	PTPRM (K176Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3038624	NM_001105244.2(PTPRM):c.594T>C (p.Ala198=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 742474	NM_001105244.2(PTPRM):c.664-9T>C	PTPRM	Single nucleotide variant (intron variant)	PTPRM-related disorder +1 more	GBenign/Likely benign
Select item 3149496	NM_001105244.2(PTPRM):c.760G>A (p.Asp254Asn)	PTPRM (D254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149497	NM_001105244.2(PTPRM):c.775C>T (p.Arg259Cys)	PTPRM (R259C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035694	NM_001105244.2(PTPRM):c.839-7C>G	PTPRM	Single nucleotide variant (intron variant)	PTPRM-related disorder	GLikely benign
Select item 3050608	NM_001105244.2(PTPRM):c.846C>T (p.Pro282=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 2405930	NM_001105244.2(PTPRM):c.871G>A (p.Ala291Thr)	PTPRM (A78T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713214	NM_001105244.2(PTPRM):c.999C>T (p.Val333=)	PTPRM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3149481	NM_001105244.2(PTPRM):c.1007C>G (p.Thr336Arg)	PTPRM (T336R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149482	NM_001105244.2(PTPRM):c.1010G>A (p.Ser337Asn)	PTPRM (S337N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332411	NM_001105244.2(PTPRM):c.1177T>A (p.Ser393Thr)	PTPRM (S180T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041857	NM_001105244.2(PTPRM):c.1206A>G (p.Pro402=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 3149483	NM_001105244.2(PTPRM):c.1273G>A (p.Gly425Arg)	PTPRM (G212R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3035016	NM_001105244.2(PTPRM):c.1281A>G (p.Glu427=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 3149484	NM_001105244.2(PTPRM):c.1289G>A (p.Arg430Gln)	PTPRM (R430Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596388	NM_001105244.2(PTPRM):c.1309A>G (p.Thr437Ala)	PTPRM (T437A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060529	NM_001105244.2(PTPRM):c.1317C>T (p.Asn439=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 777280	NM_001105244.2(PTPRM):c.1335G>A (p.Thr445=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder +1 more	GBenign
Select item 2256467	NM_001105244.2(PTPRM):c.1448G>T (p.Gly483Val)	PTPRM (G483V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529810	NM_001105244.2(PTPRM):c.1613G>C (p.Arg538Thr)	PTPRM (R538T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149485	NM_001105244.2(PTPRM):c.1640A>G (p.His547Arg)	PTPRM (H547R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529043	NM_001105244.2(PTPRM):c.1663C>T (p.Pro555Ser)	PTPRM (P342S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1320317	NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met)	PTPRM (I370M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053323	NM_001105244.2(PTPRM):c.1754-6C>T	PTPRM	Single nucleotide variant (intron variant)	PTPRM-related disorder	GLikely benign
Select item 2672286	NM_001105244.2(PTPRM):c.1768G>T (p.Ala590Ser)	PTPRM (A377S +1 more)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2544733	NM_001105244.2(PTPRM):c.1804A>G (p.Asn602Asp)	PTPRM (N602D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149486	NM_001105244.2(PTPRM):c.1886G>A (p.Arg629His)	PTPRM (R416H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523662	NM_001105244.2(PTPRM):c.1907C>T (p.Thr636Met)	PTPRM (T636M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569093	NM_001105244.2(PTPRM):c.1931C>T (p.Pro644Leu)	PTPRM (P644L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568462	NM_001105244.2(PTPRM):c.1939A>G (p.Ile647Val)	PTPRM (I434V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041277	NM_001105244.2(PTPRM):c.1980C>T (p.Tyr660=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 3041733	NM_001105244.2(PTPRM):c.2019G>A (p.Ala673=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 2600366	NM_001105244.2(PTPRM):c.2200G>A (p.Glu734Lys)	PTPRM (E521K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 786336	NM_001105244.2(PTPRM):c.2244G>A (p.Ala748=)	PTPRM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2467162	NM_001105244.2(PTPRM):c.2278G>T (p.Val760Phe)	PTPRM (V547F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373205	NM_001105244.2(PTPRM):c.2401A>C (p.Asn801His)	PTPRM (N613H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3054920	NM_001105244.2(PTPRM):c.2427G>A (p.Met809Ile)	PTPRM (M596I +2 more)	Single nucleotide variant (missense variant)	PTPRM-related disorder	GLikely benign
Select item 2253654	NM_001105244.2(PTPRM):c.2498G>A (p.Ser833Asn)	PTPRM (S645N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149487	NM_001105244.2(PTPRM):c.2548A>G (p.Ile850Val)	PTPRM (I662V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377117	NM_001105244.2(PTPRM):c.2636C>T (p.Pro879Leu)	PTPRM (P678L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470354	NM_001105244.2(PTPRM):c.2641G>A (p.Asp881Asn)	PTPRM (D680N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588131	NM_001105244.2(PTPRM):c.2644G>A (p.Val882Met)	PTPRM (V882M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3042788	NM_001105244.2(PTPRM):c.2646G>A (p.Val882=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 3149488	NM_001105244.2(PTPRM):c.2723C>T (p.Ala908Val)	PTPRM (A908V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217124	NM_001105244.2(PTPRM):c.2884A>G (p.Thr962Ala)	PTPRM (T736A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363090	NM_001105244.2(PTPRM):c.2912A>T (p.Tyr971Phe)	PTPRM (Y745F +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052519	NM_001105244.2(PTPRM):c.3225G>A (p.Pro1075=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 2471332	NM_001105244.2(PTPRM):c.3383C>G (p.Ala1128Gly)	PTPRM (A1115G +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464044	NM_001105244.2(PTPRM):c.3385G>A (p.Glu1129Lys)	PTPRM (E1116K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3041562	NM_001105244.2(PTPRM):c.3462+9G>A	PTPRM	Single nucleotide variant (intron variant)	PTPRM-related disorder	GLikely benign
Select item 2618433	NM_001105244.2(PTPRM):c.3488C>A (p.Ala1163Glu)	PTPRM (A1163E +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277866	NM_001105244.2(PTPRM):c.3488C>T (p.Ala1163Val)	PTPRM (A950V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520953	NM_001105244.2(PTPRM):c.3563A>G (p.Asn1188Ser)	PTPRM (N1000S +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149489	NM_001105244.2(PTPRM):c.3661G>A (p.Ala1221Thr)	PTPRM (A1008T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052509	NM_001105244.2(PTPRM):c.3681T>C (p.His1227=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 3043687	NM_001105244.2(PTPRM):c.3729C>T (p.Pro1243=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 3056312	NM_001105244.2(PTPRM):c.3744C>T (p.Ile1248=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 2534979	NM_001105244.2(PTPRM):c.3781A>G (p.Met1261Val)	PTPRM (M1060V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543431	NM_001105244.2(PTPRM):c.3889G>A (p.Val1297Ile)	PTPRM (V1101I +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3053401	NM_001105244.2(PTPRM):c.3912T>C (p.Pro1304=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 2549261	NM_001105244.2(PTPRM):c.3974T>C (p.Val1325Ala)	PTPRM (V1124A +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3059304	NM_001105244.2(PTPRM):c.4045-5C>T	PTPRM	Single nucleotide variant (intron variant)	PTPRM-related disorder	GBenign
Select item 3056475	NM_001105244.2(PTPRM):c.4050A>G (p.Gln1350=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 3034184	NM_001105244.2(PTPRM):c.4095G>A (p.Pro1365=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 3043059	NM_001105244.2(PTPRM):c.4113A>G (p.Pro1371=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 2343740	NM_001105244.2(PTPRM):c.4168G>A (p.Glu1390Lys)	PTPRM (E1189K +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060157	NM_001105244.2(PTPRM):c.4170G>A (p.Glu1390=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 3059080	NM_001105244.2(PTPRM):c.4194G>C (p.Thr1398=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GBenign
Select item 3149491	NM_001105244.2(PTPRM):c.4223G>A (p.Arg1408His)	PTPRM (R1182H +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149493	NM_001105244.2(PTPRM):c.4240G>A (p.Ala1414Thr)	PTPRM (A1213T +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3047256	NM_001105244.2(PTPRM):c.4290C>A (p.Val1430=)	PTPRM	Single nucleotide variant (synonymous variant)	PTPRM-related disorder	GLikely benign
Select item 2316363	NM_001105244.2(PTPRM):c.4394G>T (p.Gly1465Val)	PTPRM (G1252V +7 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685613	GRCh37/hg19 18p11.23(chr18:7932338-8047836)x1	PTPRM	Copy number loss	not provided	GUncertain significance
Select item 1809179	GRCh37/hg19 18p11.23(chr18:8081452-8300339)x1	PTPRM	Copy number loss	not provided	GUncertain significance
Select item 1808811	GRCh37/hg19 18p11.23-11.22(chr18:8297072-8506704)x3	PTPRM	Copy number gain	not provided	GUncertain significance
Select item 1340847	GRCh37/hg19 18p11.23(chr18:7905532-8115256)x1	PTPRM	Copy number loss	not provided	GUncertain significance
Select item 815973	GRCh37/hg19 18p11.23(chr18:8174918-8406673)x3	PTPRM	Copy number gain	not provided	GUncertain significance
Select item 689173	GRCh37/hg19 18p11.23(chr18:7647228-7824862)x1	PTPRM	Copy number loss	not provided	GUncertain significance
Select item 564494	GRCh37/hg19 18p11.23(chr18:7538871-7764098)x3	PTPRM	Copy number gain	not provided	GUncertain significance
Select item 564490	GRCh37/hg19 18p11.23(chr18:7915186-8104878)x3	PTPRM	Copy number gain	not provided	GUncertain significance

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Items: 96