ClinVar for Gene (Select 5780) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3311479	NM_002833.4(PTPN9):c.769C>T (p.His257Tyr)	PTPN9 (H257Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311478	NM_002833.4(PTPN9):c.211A>G (p.Thr71Ala)	PTPN9 (T71A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311477	NM_002833.4(PTPN9):c.273C>G (p.Ile91Met)	PTPN9 (I91M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311476	NM_002833.4(PTPN9):c.1270A>G (p.Ile424Val)	PTPN9 (I424V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	GUncertain significance
Select item 3149258	NM_002833.4(PTPN9):c.1751G>A (p.Gly584Asp)	PTPN9 (G584D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149257	NM_002833.4(PTPN9):c.1286T>C (p.Leu429Pro)	PTPN9 (L429P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149256	NM_002833.4(PTPN9):c.1265C>T (p.Ser422Phe)	PTPN9 (S422F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685524	GRCh37/hg19 15q24.2(chr15:75601120-76081362)x1	CIMAP1C, COMMD4 +8 more	Copy number loss	not provided	GPathogenic
Select item 2645566	NM_002833.4(PTPN9):c.1567+5C>T	PTPN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2594146	NM_002833.4(PTPN9):c.1306G>A (p.Val436Met)	PTPN9 (V436M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
Select item 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2569243	NM_002833.4(PTPN9):c.1372C>T (p.Arg458Cys)	PTPN9 (R458C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558916	NM_002833.4(PTPN9):c.683G>A (p.Arg228Lys)	PTPN9 (R228K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535134	NM_002833.4(PTPN9):c.263G>A (p.Arg88His)	PTPN9 (R88H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517239	NM_002833.4(PTPN9):c.544C>T (p.Arg182Cys)	PTPN9 (R182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2474602	NM_002833.4(PTPN9):c.909C>G (p.Ile303Met)	PTPN9 (I303M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470487	NM_002833.4(PTPN9):c.947T>C (p.Val316Ala)	PTPN9 (V316A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426847	NC_000015.9:g.(?_75628431)_(76054677_?)del	CIMAP1C, COMMD4 +8 more	Deletion	not provided	GUncertain significance
Select item 2352986	NM_002833.4(PTPN9):c.730G>A (p.Ala244Thr)	PTPN9 (A244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350420	NM_002833.4(PTPN9):c.547T>G (p.Leu183Val)	PTPN9 (L183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346400	NM_002833.4(PTPN9):c.1336A>G (p.Thr446Ala)	PTPN9 (T446A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340420	NM_002833.4(PTPN9):c.101C>T (p.Thr34Ile)	PTPN9 (T34I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284794	NM_002833.4(PTPN9):c.715G>C (p.Val239Leu)	PTPN9 (V239L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269508	NM_002833.4(PTPN9):c.31A>C (p.Met11Leu)	LOC130057616, PTPN9 (M11L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2250480	NM_002833.4(PTPN9):c.941A>T (p.Asn314Ile)	PTPN9 (N314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230527	NM_002833.4(PTPN9):c.1501C>T (p.Arg501Cys)	PTPN9 (R501C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228694	NM_002833.4(PTPN9):c.1498G>A (p.Ala500Thr)	PTPN9 (A500T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215699	NM_002833.4(PTPN9):c.1325A>T (p.Tyr442Phe)	PTPN9 (Y442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	GPathogenic
Select item 1703679	GRCh37/hg19 15q24.1-24.2(chr15:74398068-76054094)	ARID3B, C15orf39 +34 more	Copy number loss	Hearing impairment	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	CGNL1, MAPDA +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 997817	Single allele	CIMAP1C, COMMD4 +8 more	Deletion	Epilepsy +1 more	GPathogenic
Select item 980533	GRCh37/hg19 15q24.2(chr15:75440382-76133553)x3	SNX33, GOLGA6C +11 more	Copy number gain	not provided	GUncertain significance
Select item 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 743217	NM_002833.4(PTPN9):c.387G>A (p.Gln129=)	PTPN9	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 687789	GRCh37/hg19 15q24.2(chr15:75508057-76128091)x3	COMMD4, CSPG4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 687513	GRCh37/hg19 15q24.1-24.2(chr15:72963271-76064900)x3	ADPGK, ARID3B +47 more	Copy number gain	not provided	GPathogenic
Select item 685759	GRCh37/hg19 15q24.2(chr15:75309345-75930806)x3	C15orf39, COMMD4 +9 more	Copy number gain	not provided	GUncertain significance
Select item 625749	GRCh37/hg19 15q24.2(chr15:75648132-76102251)	CSPG4, IMP3 +6 more	Copy number loss	not provided	GPathogenic
Select item 564219	GRCh37/hg19 15q24.2(chr15:75768387-75901066)x3	PTPN9, SNUPN	Copy number gain	not provided	GUncertain significance
Select item 564218	GRCh37/hg19 15q24.1-24.2(chr15:75078195-75862756)x1	SCAMP2, ULK3 +17 more	Copy number loss	not provided	GPathogenic
Select item 564215	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76072324)x1	ADPGK, ARID3B +48 more	Copy number loss	not provided	GPathogenic
Select item 564214	GRCh37/hg19 15q23-26.3(chr15:71329220-102270758)x3	ABHD17C, ABHD2 +215 more	Copy number gain	not provided	GPathogenic
Select item 560141	Single allele	COMMD4, CSPG4 +8 more	Duplication	SIN3A-related intellectual disability syndrome due to a point mutation	GUncertain significance
Select item 560049	Single allele	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	NOX5, NPAP1 +559 more	Copy number gain	See cases	GPathogenic
Select item 441056	GRCh37/hg19 15q24.1-24.2(chr15:72958539-76063285)x1	ADPGK, STOML1 +48 more	Copy number loss	not provided	Gnot provided
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CHRFAM7A, CHRM5 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	ALDH1A2, ALDH1A3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	WHAMM, CCNB2 +308 more	Copy number gain	not provided	GLikely pathogenic
Select item 254015	GRCh37/hg19 15q24.1-24.3(chr15:74368270-78122737)x3	ARID3B, C15orf39 +49 more	Copy number gain	See cases	GUncertain significance
Select item 253861	GRCh37/hg19 15q24.2(chr15:75562397-76030552)x3	COMMD4, SNUPN +10 more	Copy number gain	See cases	GUncertain significance
Select item 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +278 more	Copy number gain	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057927, LOC130057928 +1764 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	LOC130057567, LOC130057568 +243 more	Copy number loss	See cases	GPathogenic
Select item 59383	GRCh38/hg38 15q24.2(chr15:75432164-75626896)x1	LOC121530594, LOC130057607 +14 more	Copy number loss	See cases	GPathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	See cases	GPathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 66