PTPN5[gene] - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	TRIM22, TRIM3 +917 more	Copy number gain	See cases	GPathogenic
Select item 58856	GRCh38/hg38 11p15.1(chr11:17905089-19674505)x1	CSRP3, CSRP3-AS1 +86 more	Copy number loss	See cases	GPathogenic
Select item 145597	GRCh38/hg38 11p15.1(chr11:18526222-20748125)x3	CSRP3, CSRP3-AS1 +83 more	Copy number gain	See cases	GUncertain significance
Select item 98408	NM_006906.2(PTPN5):c.1584G>A (p.Thr528=)	IGSF22-AS1, PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2349066	NM_006906.2(PTPN5):c.1519A>C (p.Ile507Leu)	IGSF22-AS1, PTPN5 (I451L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602179	NM_006906.2(PTPN5):c.1480G>A (p.Val494Ile)	IGSF22-AS1, PTPN5 (V438I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546630	NM_006906.2(PTPN5):c.1429G>C (p.Glu477Gln)	IGSF22-AS1, PTPN5 (E445Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332357	NM_006906.2(PTPN5):c.1426C>T (p.Arg476Trp)	IGSF22-AS1, PTPN5 (R420W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149237	NM_006906.2(PTPN5):c.1423G>T (p.Val475Leu)	IGSF22-AS1, PTPN5 (V475L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98409	NM_006906.2(PTPN5):c.1338T>A (p.Thr446=)	IGSF22-AS1, PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98410	NM_006906.2(PTPN5):c.1331G>A (p.Ser444Asn)	IGSF22-AS1, PTPN5 (S412N +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3149235	NM_006906.2(PTPN5):c.1321T>C (p.Ser441Pro)	IGSF22-AS1, PTPN5 (S417P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411970	NM_006906.2(PTPN5):c.1258G>A (p.Asp420Asn)	IGSF22-AS1, PTPN5 (D396N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98411	NM_006906.2(PTPN5):c.1253C>T (p.Ala418Val)	IGSF22-AS1, PTPN5 (A386V +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2601481	NM_006906.2(PTPN5):c.1230G>T (p.Glu410Asp)	IGSF22-AS1, PTPN5 (E378D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149234	NM_006906.2(PTPN5):c.1216G>A (p.Glu406Lys)	IGSF22-AS1, PTPN5 (E374K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98412	NM_006906.2(PTPN5):c.1203C>T (p.Ile401=)	IGSF22-AS1, PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 2350878	NM_006906.2(PTPN5):c.1196C>A (p.Thr399Asn)	IGSF22-AS1, PTPN5 (T367N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226014	NM_006906.2(PTPN5):c.1133G>C (p.Ser378Thr)	IGSF22-AS1, PTPN5 (S346T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337651	NM_006906.2(PTPN5):c.1130T>C (p.Val377Ala)	IGSF22-AS1, PTPN5 (V321A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98413	NM_006906.2(PTPN5):c.1085A>G (p.Tyr362Cys)	IGSF22-AS1, PTPN5 (Y330C +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3311464	NM_006906.2(PTPN5):c.1045C>A (p.Pro349Thr)	IGSF22-AS1, PTPN5 (P325T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489234	NM_006906.2(PTPN5):c.1045C>T (p.Pro349Ser)	IGSF22-AS1, PTPN5 (P349S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2568423	NM_006906.2(PTPN5):c.962G>A (p.Gly321Glu)	IGSF22-AS1, PTPN5 (G265E +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311465	NM_006906.2(PTPN5):c.959C>T (p.Pro320Leu)	IGSF22-AS1, PTPN5 (P320L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98414	NM_006906.2(PTPN5):c.866A>G (p.Glu289Gly)	IGSF22-AS1, PTPN5 (E257G +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3149244	NM_006906.2(PTPN5):c.841G>A (p.Ala281Thr)	IGSF22-AS1, PTPN5 (A225T +3 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2543684	NM_006906.2(PTPN5):c.826G>A (p.Glu276Lys)	IGSF22-AS1, PTPN5 (E252K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2368332	NM_006906.2(PTPN5):c.824G>A (p.Arg275His)	IGSF22-AS1, PTPN5 (R243H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98415	NM_006906.2(PTPN5):c.808C>T (p.Arg270Cys)	PTPN5, IGSF22-AS1 (R238C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98416	NM_006906.2(PTPN5):c.768G>A (p.Pro256=)	PTPN5, IGSF22-AS1	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3149243	NM_006906.2(PTPN5):c.689C>T (p.Thr230Ile)	PTPN5 (T198I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369638	NM_006906.2(PTPN5):c.686C>T (p.Pro229Leu)	PTPN5 (P173L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368311	NM_006906.2(PTPN5):c.639G>C (p.Glu213Asp)	PTPN5 (E157D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98417	NM_006906.2(PTPN5):c.627C>T (p.Asp209=)	PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98418	NM_006906.2(PTPN5):c.603C>T (p.Ile201=)	PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 3149242	NM_006906.2(PTPN5):c.545G>A (p.Arg182His)	PTPN5 (R126H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472457	NM_006906.2(PTPN5):c.529C>T (p.Pro177Ser)	PTPN5 (P121S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207117	NM_006906.2(PTPN5):c.493C>T (p.Leu165Phe)	PTPN5 (L109F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527904	NM_006906.2(PTPN5):c.492C>A (p.His164Gln)	PTPN5 (H108Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98419	NM_006906.2(PTPN5):c.467T>C (p.Val156Ala)	PTPN5 (V124A +3 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 3311466	NM_006906.2(PTPN5):c.449T>G (p.Phe150Cys)	PTPN5 (F94C +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149241	NM_006906.2(PTPN5):c.421T>C (p.Trp141Arg)	PTPN5 (W85R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149240	NM_006906.2(PTPN5):c.419C>T (p.Thr140Met)	PTPN5 (T116M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356401	NM_006906.2(PTPN5):c.358G>A (p.Val120Ile)	PTPN5 (V120I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3149239	NM_006906.2(PTPN5):c.353A>G (p.Asn118Ser)	PTPN5 (N94S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221914	NM_006906.2(PTPN5):c.346G>A (p.Ala116Thr)	PTPN5 (A92T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149238	NM_006906.2(PTPN5):c.323A>G (p.Tyr108Cys)	PTPN5 (Y108C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454612	NM_006906.2(PTPN5):c.229G>A (p.Ala77Thr)	PTPN5 (A77T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3311463	NM_006906.2(PTPN5):c.203C>T (p.Pro68Leu)	PTPN5 (P68L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375784	NM_006906.2(PTPN5):c.179C>T (p.Pro60Leu)	PTPN5 (P36L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466175	NM_006906.2(PTPN5):c.158A>T (p.Gln53Leu)	PTPN5 (Q29L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539341	NM_006906.2(PTPN5):c.137C>T (p.Ala46Val)	PTPN5 (A22V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149236	NM_006906.2(PTPN5):c.133G>A (p.Glu45Lys)	PTPN5 (E21K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 98420	NM_006906.2(PTPN5):c.132C>T (p.Asp44=)	PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98421	NM_006906.2(PTPN5):c.116T>C (p.Val39Ala)	PTPN5 (V39A +1 more)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 98422	NM_006906.2(PTPN5):c.111G>A (p.Pro37=)	PTPN5	Single nucleotide variant (synonymous variant)	not provided	Gnot provided
Select item 98423	NM_006906.2(PTPN5):c.103C>A (p.Pro35Thr)	PTPN5 (P35T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274228	NM_006906.2(PTPN5):c.95C>T (p.Pro32Leu)	PTPN5 (P8L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619688	NM_006906.2(PTPN5):c.43G>A (p.Ala15Thr)	PTPN5 (A15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3244681	NC_000011.9:g.(?_18418390)_(19213995_?)del	CSRP3, IGSF22 +11 more	Deletion	Hypertrophic cardiomyopathy 12 +1 more	GPathogenic
Select item 2424682	NC_000011.9:g.(?_18418390)_(19204313_?)del	CSRP3, IGSF22 +11 more	Deletion	Dilated cardiomyopathy 1M +1 more	GUncertain significance
Select item 1808754	GRCh37/hg19 11p15.1(chr11:17784556-18797650)x3	GTF2H1, HPS5 +19 more	Copy number gain	not provided	GUncertain significance
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	CYP2R1, DBX1 +308 more	Copy number gain	See cases	GPathogenic
Select item 1527629	GRCh37/hg19 11p15.1(chr11:18482438-18792764)	IGSF22, LDHAL6A +5 more	Copy number loss	not specified	GUncertain significance
Select item 999235	NC_000011.9:g.(?_17552691)_(19213995_?)dup	CSRP3, GTF2H1 +26 more	Duplication	Progressive myoclonic epilepsy type 7	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	LDHA, SLC5A12 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	DKK3, DNAJC24 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CALCB, CARS1 +343 more	Copy number gain	not provided	GPathogenic
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	DEAF1, DENND2B +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ASCL3, CEND1 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	ART5, CCDC34 +364 more	Copy number gain	See cases	GPathogenic
Select item 376757	GRCh37/hg19 11p15.1-13(chr11:18536224-31923308)x1	DCDC1, DNAJC24 +44 more	Copy number loss	Aniridia 1	GPathogenic

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Items: 76