9661[HGNC] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	LOC116268473, LOC116268474 +1244 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
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 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 58080	GRCh38/hg38 15q24.2(chr15:75336215-75658670)x3	COMMD4, IMP3 +29 more	Copy number gain	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 3149258	NM_002833.4(PTPN9):c.1751G>A (p.Gly584Asp)	PTPN9 (G584D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645566	NM_002833.4(PTPN9):c.1567+5C>T	PTPN9	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2569243	NM_002833.4(PTPN9):c.1372C>T (p.Arg458Cys)	PTPN9 (R458C)	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 2215699	NM_002833.4(PTPN9):c.1325A>T (p.Tyr442Phe)	PTPN9 (Y442F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3149257	NM_002833.4(PTPN9):c.1286T>C (p.Leu429Pro)	PTPN9 (L429P)	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 3149256	NM_002833.4(PTPN9):c.1265C>T (p.Ser422Phe)	PTPN9 (S422F)	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 2250480	NM_002833.4(PTPN9):c.941A>T (p.Asn314Ile)	PTPN9 (N314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3311479	NM_002833.4(PTPN9):c.769C>T (p.His257Tyr)	PTPN9 (H257Y)	Single nucleotide variant (missense variant)	not specified	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 2284794	NM_002833.4(PTPN9):c.715G>C (p.Val239Leu)	PTPN9 (V239L)	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 2350420	NM_002833.4(PTPN9):c.547T>G (p.Leu183Val)	PTPN9 (L183V)	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 743217	NM_002833.4(PTPN9):c.387G>A (p.Gln129=)	PTPN9	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2535134	NM_002833.4(PTPN9):c.263G>A (p.Arg88His)	PTPN9 (R88H)	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 2340420	NM_002833.4(PTPN9):c.101C>T (p.Thr34Ile)	PTPN9 (T34I)	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 3243780	NC_000015.9:g.(?_74219125)_(77329517_?)del	ARID3B, C15orf39 +47 more	Deletion	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	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 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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	AAGAB, ABHD17C +209 more	Copy number gain	not provided	GPathogenic
Select item 2426847	NC_000015.9:g.(?_75628431)_(76054677_?)del	CIMAP1C, COMMD4 +8 more	Deletion	not provided	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 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 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

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Items: 66