C15orf39[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057816, LOC130057817 +1763 more	Copy number gain	See cases	GPathogenic
Select item 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	LOC121530589, LOC121530590 +487 more	Copy number loss	See cases	GPathogenic
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC110467517, LOC112272614 +202 more	Copy number loss	See cases	GPathogenic
Select item 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	NPTN-IT1, PML +195 more	Copy number loss	See cases	GLikely pathogenic
Select item 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	LOC130057507, LOC130057508 +236 more	Copy number loss	See cases	GPathogenic
Select item 153074	GRCh38/hg38 15q24.1-24.2(chr15:72685231-75727625)x1	ADPGK, ADPGK-AS1 +243 more	Copy number loss	See cases	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2376288	NM_015492.5(C15orf39):c.40A>G (p.Met14Val)	C15orf39 (M14V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353946	NM_015492.5(C15orf39):c.166C>T (p.Pro56Ser)	C15orf39 (P56S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253281	NM_015492.5(C15orf39):c.548G>T (p.Gly183Val)	C15orf39 (G183V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229647	NM_015492.5(C15orf39):c.554C>G (p.Thr185Ser)	C15orf39 (T185S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2277119	NM_015492.5(C15orf39):c.581T>C (p.Val194Ala)	C15orf39 (V194A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2259353	NM_015492.5(C15orf39):c.818A>G (p.His273Arg)	C15orf39 (H273R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367409	NM_015492.5(C15orf39):c.905T>A (p.Leu302His)	C15orf39 (L302H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274480	NM_015492.5(C15orf39):c.926G>A (p.Gly309Asp)	C15orf39 (G309D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2397870	NM_015492.5(C15orf39):c.1001A>G (p.Tyr334Cys)	C15orf39 (Y334C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2378900	NM_015492.5(C15orf39):c.1118C>T (p.Pro373Leu)	C15orf39 (P373L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347200	NM_015492.5(C15orf39):c.1253A>G (p.Gln418Arg)	C15orf39, LOC130057596 (Q418R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207528	NM_015492.5(C15orf39):c.1379C>T (p.Pro460Leu)	C15orf39 (P460L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219219	NM_015492.5(C15orf39):c.1387G>A (p.Val463Ile)	C15orf39 (V463I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372829	NM_015492.5(C15orf39):c.1538G>A (p.Arg513His)	C15orf39 (R513H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251968	NM_015492.5(C15orf39):c.1663C>G (p.Gln555Glu)	C15orf39 (Q555E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2645553	NM_015492.5(C15orf39):c.1775G>A (p.Arg592His)	C15orf39 (R592H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2238089	NM_015492.5(C15orf39):c.1802C>A (p.Ala601Glu)	C15orf39 (A601E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244360	NM_015492.5(C15orf39):c.2006C>T (p.Ser669Phe)	C15orf39 (S669F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2243540	NM_015492.5(C15orf39):c.2233C>T (p.Pro745Ser)	C15orf39 (P745S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	ISLR2, MESD +209 more	Copy number gain	not provided	GPathogenic
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 1353978	NC_000015.9:g.(?_72978569)_(75722716_?)del	ADPGK, ARID3B +41 more	Deletion	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
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 815736	GRCh37/hg19 15q24.2(chr15:75385567-75674401)x3	MAN2C1, COMMD4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 688538	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
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 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	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 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 560117	Single allele	ADPGK, ARID3B +37 more	Deletion	not provided	GPathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443649	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +561 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +561 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	GPR176, GRAMD2A +568 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	AAGAB, ABHD17C +446 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 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 253605	GRCh37/hg19 15q24.1-24.2(chr15:72998989-76069787)x3	ADPGK, ARID3B +47 more	Copy number gain	See cases	GPathogenic
Select item 253560	GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1	ADPGK, ARID3B +37 more	Copy number loss	See cases	GPathogenic
Select item 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 60