COMMD4[gene] - ClinVar

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Items: 54

	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 2606739	NM_017828.5(COMMD4):c.23A>G (p.Asp8Gly)	COMMD4 (D8G)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3268923	NM_017828.5(COMMD4):c.62C>T (p.Thr21Met)	COMMD4 (T21M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3147914	NM_017828.5(COMMD4):c.118G>A (p.Glu40Lys)	COMMD4 (E40K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3147915	NM_017828.5(COMMD4):c.131A>G (p.Gln44Arg)	COMMD4 (Q44R +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2210315	NM_017828.5(COMMD4):c.149A>C (p.Lys50Thr)	COMMD4 (K26T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2322540	NM_017828.5(COMMD4):c.184T>C (p.Ser62Pro)	COMMD4 (S38P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3268924	NM_017828.5(COMMD4):c.226C>G (p.Leu76Val)	COMMD4 (L30V +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530665	NM_017828.5(COMMD4):c.287T>C (p.Leu96Pro)	COMMD4 (L102P +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2525552	NM_017828.5(COMMD4):c.323G>A (p.Arg108His)	COMMD4 (R114H +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3268922	NM_017828.5(COMMD4):c.379C>G (p.Arg127Gly)	COMMD4 (R105G +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2308789	NM_017828.5(COMMD4):c.384G>T (p.Met128Ile)	COMMD4 (M106I +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3268920	NM_017828.5(COMMD4):c.394G>A (p.Ala132Thr)	COMMD4 (A86T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2245898	NM_017828.5(COMMD4):c.473G>A (p.Arg158Gln)	COMMD4 (R164Q +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2225738	NM_017828.5(COMMD4):c.487G>A (p.Ala163Thr)	COMMD4 (A169T +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2405630	NM_017828.5(COMMD4):c.524C>G (p.Ser175Cys)	COMMD4 (S129C +4 more)	Single nucleotide variant (missense variant +2 more)	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 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	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 815736	GRCh37/hg19 15q24.2(chr15:75385567-75674401)x3	MAN2C1, COMMD4 +5 more	Copy number gain	not provided	GUncertain significance
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 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: 54