ClinVar for Gene (Select 1445) - ClinVar

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

Links from Gene

Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269777	NM_004383.3(CSK):c.167G>A (p.Arg56His)	CSK, LOC126862181 (R56H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3243817	NC_000015.9:g.(?_72978569)_(75190071_?)del	ADPGK, ARID3B +29 more	Deletion	Brugada syndrome 8	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 3078044	NM_004383.3(CSK):c.64G>A (p.Gly22Ser)	CSK, LOC126862181 (G22S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078043	NM_004383.3(CSK):c.281G>A (p.Arg94Gln)	CSK, LOC126862181 (R94Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078042	NM_004383.3(CSK):c.193G>A (p.Val65Ile)	CSK, LOC126862181 (V65I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078041	NM_004383.3(CSK):c.138C>G (p.Asn46Lys)	CSK, LOC126862181 (N46K)	Single nucleotide variant (missense variant +2 more)	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 3024825	NM_004383.3(CSK):c.1282G>A (p.Ala428Thr)	CSK (A385T +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2645546	NM_004383.3(CSK):c.264A>C (p.Thr88=)	CSK, LOC126862181	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2558832	NM_004383.3(CSK):c.296C>T (p.Pro99Leu)	CSK, LOC126862181 (P66L +2 more)	Single nucleotide variant (missense variant +1 more)	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 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2334562	NM_004383.3(CSK):c.1034C>T (p.Thr345Met)	CSK (T312M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325323	NM_004383.3(CSK):c.367G>A (p.Asp123Asn)	CSK, LOC126862181 (D80N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213883	NM_004383.3(CSK):c.1208A>G (p.Tyr403Cys)	CSK (Y360C +4 more)	Single nucleotide variant (missense variant +1 more)	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 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 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 713186	NM_004383.3(CSK):c.860G>A (p.Gly287Asp)	CSK (G287D +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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

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: 54