ClinVar for Gene (Select 9377) - ClinVar

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Links from Gene

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269051	NM_004255.4(COX5A):c.415A>C (p.Ile139Leu)	COX5A (I139L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269050	NM_004255.4(COX5A):c.319C>A (p.Arg107Ser)	COX5A (R107S)	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 3076469	NM_004255.4(COX5A):c.94G>A (p.Ala32Thr)	COX5A, LOC130057573 (A32T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076468	NM_004255.4(COX5A):c.134C>T (p.Ser45Leu)	COX5A (S45L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076467	NM_004255.4(COX5A):c.128A>G (p.His43Arg)	COX5A (H43R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063378	GRCh37/hg19 15q24.1-24.2(chr15:74823917-75455431)x3	ARID3B, CLK3 +14 more	Copy number gain	not specified	GUncertain significance
Select item 3028911	NM_004255.4(COX5A):c.266T>G (p.Ile89Ser)	COX5A	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 20	GPathogenic
Select item 2645552	NM_004255.4(COX5A):c.36C>T (p.Ala12=)	COX5A, LOC130057573	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2606293	NM_004255.4(COX5A):c.65T>A (p.Leu22His)	COX5A, LOC130057573 (L22H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602867	NM_004255.4(COX5A):c.316G>A (p.Val106Ile)	COX5A (V106I)	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 2578745	NM_004255.4(COX5A):c.56C>G (p.Pro19Arg)	COX5A, LOC130057573 (P19R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2528040	NM_004255.4(COX5A):c.314C>T (p.Thr105Ile)	COX5A (T105I)	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 2490055	NM_004255.4(COX5A):c.89G>A (p.Gly30Asp)	COX5A, LOC130057573 (G30D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395251	NM_004255.4(COX5A):c.222A>G (p.Ile74Met)	COX5A (I74M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2380251	NM_004255.4(COX5A):c.95C>A (p.Ala32Asp)	COX5A, LOC130057573 (A32D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362706	NM_004255.4(COX5A):c.137A>G (p.Gln46Arg)	COX5A (Q46R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343871	NM_004255.4(COX5A):c.16C>T (p.Leu6Phe)	COX5A, LOC130057573 (L6F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324566	NM_004255.4(COX5A):c.161C>G (p.Ala54Gly)	COX5A (A54G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307385	NM_004255.4(COX5A):c.145G>C (p.Asp49His)	COX5A (D49H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808905	GRCh37/hg19 15q24.1-24.2(chr15:75167794-75459288)x1	COX5A, FAM219B +4 more	Copy number loss	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 980532	GRCh37/hg19 15q24.1-24.2(chr15:74398162-76054094)x1	ARID3B, C15orf39 +34 more	Copy number loss	not provided	GPathogenic
Select item 977933	NM_004255.4(COX5A):c.319C>T (p.Arg107Cys)	COX5A (R107C)	Single nucleotide variant (missense variant)	Mitochondrial complex 4 deficiency, nuclear type 20	GPathogenic
Select item 815735	GRCh37/hg19 15q24.1-24.2(chr15:75039267-75268029)x1	CPLX3, COX5A +8 more	Copy number loss	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 783061	NM_004255.4(COX5A):c.74C>G (p.Ser25Cys)	COX5A, LOC130057573 (S25C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 746574	NM_004255.4(COX5A):c.270T>C (p.Asp90=)	COX5A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
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 +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 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 +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 154681	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75242989)x1	LOC130057584, LOC130057585 +202 more	Copy number loss	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 148272	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75199803)x1	ADPGK, ADPGK-AS1 +195 more	Copy number loss	See cases	GLikely pathogenic
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 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 63