PTPRM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 59613	GRCh38/hg38 18p11.32-11.22(chr18:112259-9135777)x1	ADCYAP1, AKAIN1 +195 more	Copy number loss	See cases	GPathogenic
Select item 155127	GRCh38/hg38 18p11.32-11.21(chr18:118760-12642431)x3	LOC129390958, LOC130062070 +300 more	Copy number gain	See cases	GUncertain significance
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 150126	GRCh38/hg38 18p11.32-11.22(chr18:118760-8999132)x1	ADCYAP1, AKAIN1 +184 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59910	GRCh38/hg38 18p11.32-11.22(chr18:131700-10536767)x1	ADCYAP1, AKAIN1 +237 more	Copy number loss	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148011	GRCh38/hg38 18p11.32-11.21(chr18:148963-10900517)x1	ADCYAP1, AKAIN1 +245 more	Copy number loss	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 59916	GRCh38/hg38 18p11.32-11.21(chr18:148963-13068104)x1	ADCYAP1, AFG3L2 +327 more	Copy number loss	See cases	GPathogenic
Select item 59913	GRCh38/hg38 18p11.32-11.21(chr18:148963-13530126)x1	ADCYAP1, AFG3L2 +344 more	Copy number loss	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 57340	GRCh38/hg38 18p11.32-11.21(chr18:148963-13715860)x1	LOC129390955, LOC129390956 +358 more	Copy number loss	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 147704	GRCh38/hg38 18p11.32-11.22(chr18:180229-10762632)x1	ADCYAP1, AKAIN1 +241 more	Copy number loss	See cases	GPathogenic
Select item 154072	GRCh38/hg38 18p11.32-11.21(chr18:958974-11954935)x1	AKAIN1, ANKRD12 +246 more	Copy number loss	See cases	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 147396	GRCh38/hg38 18p11.32-11.21(chr18:2425507-11904118)x3	AKAIN1, ANKRD12 +230 more	Copy number gain	See cases	GPathogenic
Select item 59734	GRCh38/hg38 18p11.31-11.23(chr18:6881457-8124873)x3	ARHGAP28, LAMA1 +12 more	Copy number gain	See cases	GBenign
Select item 148553	GRCh38/hg38 18p11.31-11.23(chr18:6894970-7577151)x3	ARHGAP28, LAMA1 +9 more	Copy number gain	See cases	GUncertain significance
Select item 154424	GRCh38/hg38 18p11.31-11.22(chr18:6913068-9146867)x3	ANKRD12, ARHGAP28 +47 more	Copy number gain	See cases	GUncertain significance
Select item 152481	GRCh38/hg38 18p11.31-11.23(chr18:6947044-8084807)x3	LAMA1, LOC101927188 +10 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 144528	GRCh38/hg38 18p11.31-11.23(chr18:6973011-8055877)x3	LAMA1, LOC112543434 +8 more	Copy number gain	See cases	GUncertain significance
Select item 144233	GRCh38/hg38 18p11.31-11.23(chr18:6973011-7595580)x3	LAMA1, LOC112543434 +5 more	Copy number gain	See cases	GUncertain significance
Select item 59753	GRCh38/hg38 18p11.31-11.23(chr18:7115076-7608220)x3	LAMA1, LOC112577592 +3 more	Copy number gain	See cases	GBenign
Select item 59957	GRCh38/hg38 18p11.31-11.22(chr18:7154668-10068356)x1	ANKRD12, GACAT2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148429	GRCh38/hg38 18p11.23-11.21(chr18:7290175-13049470)x1	AFG3L2, ANKRD12 +164 more	Copy number loss	See cases	GLikely pathogenic
Select item 147863	GRCh38/hg38 18p11.23(chr18:7438814-8412548)x3	LOC100192426, LOC112577592 +8 more	Copy number gain	See cases	GUncertain significance
Select item 58752	GRCh38/hg38 18p11.23-11.22(chr18:7542605-9320894)x3	ANKRD12, GACAT2 +39 more	Copy number gain	See cases	GPathogenic
Select item 3311603	NM_001105244.2(PTPRM):c.20G>T (p.Cys7Phe)	PTPRM (C7F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545225	NC_000018.10:g.(?_7773472)_(8250054_?)del	LOC125368541, LOC126862688 +3 more	Deletion	Schizophrenia	GLikely pathogenic
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	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 3311602	NM_001105244.2(PTPRM):c.317A>G (p.Lys106Arg)	PTPRM (K106R)	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 3311604	NM_001105244.2(PTPRM):c.430G>C (p.Glu144Gln)	PTPRM (E144Q)	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 3311596	NM_001105244.2(PTPRM):c.554C>G (p.Thr185Ser)	PTPRM (T185S)	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)	not provided	GBenign/Likely benign
Select item 3311605	NM_001105244.2(PTPRM):c.739G>A (p.Val247Ile)	PTPRM (V34I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3311599	NM_001105244.2(PTPRM):c.824A>C (p.Glu275Ala)	PTPRM (E275A +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)	not provided	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 3311597	NM_001105244.2(PTPRM):c.1648T>C (p.Phe550Leu)	PTPRM (F337L +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

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