ClinVar for Gene (Select 25989) - ClinVar

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Links from Gene

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3186367	NM_001099436.4(ULK3):c.895G>T (p.Asp299Tyr)	ULK3 (D310Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186365	NM_001099436.4(ULK3):c.80C>T (p.Thr27Met)	ULK3 (T27M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186364	NM_001099436.4(ULK3):c.706C>G (p.Arg236Gly)	ULK3 (R119G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186363	NM_001099436.4(ULK3):c.688G>A (p.Val230Ile)	ULK3 (V230I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186361	NM_001099436.4(ULK3):c.577C>T (p.Arg193Cys)	ULK3 (R204C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3186360	NM_001099436.4(ULK3):c.341C>T (p.Ala114Val)	ULK3 (A125V +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186359	NM_001099436.4(ULK3):c.1333A>G (p.Lys445Glu)	ULK3 (K445E +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3186358	NM_001099436.4(ULK3):c.1252C>T (p.Pro418Ser)	ULK3 (P429S +2 more)	Single nucleotide variant (missense variant +1 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 2645550	NM_001099436.4(ULK3):c.93C>T (p.Ala31=)	ULK3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2645549	NM_001099436.4(ULK3):c.295C>T (p.Leu99=)	ULK3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2645548	NM_001099436.4(ULK3):c.498G>A (p.Pro166=)	ULK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2645547	NM_001099436.4(ULK3):c.852A>G (p.Ala284=)	ULK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2622474	NM_001099436.4(ULK3):c.1024G>A (p.Glu342Lys)	ULK3 (E342K +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2599343	NM_001099436.4(ULK3):c.1067T>G (p.Leu356Arg)	ULK3 (L239R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597395	NM_001099436.4(ULK3):c.1268G>A (p.Arg423Gln)	ULK3 (R434Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597019	NM_001099436.4(ULK3):c.769C>T (p.Arg257Cys)	ULK3 (R140C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589990	NM_001099436.4(ULK3):c.257A>G (p.Asn86Ser)	ULK3 (N97S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	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 2559738	NM_001099436.4(ULK3):c.1018C>T (p.Arg340Trp)	ULK3 (R351W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2552769	NM_001099436.4(ULK3):c.574G>A (p.Ala192Thr)	ULK3 (A192T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549553	NM_001099436.4(ULK3):c.656C>T (p.Ser219Leu)	ULK3 (S230L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2532911	NM_001099436.4(ULK3):c.343C>T (p.Arg115Cys)	ULK3 (R115C +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2531262	NM_001099436.4(ULK3):c.785A>G (p.Gln262Arg)	ULK3 (Q262R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2528136	NM_001099436.4(ULK3):c.251G>A (p.Ser84Asn)	ULK3 (S95N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519285	NM_001099436.4(ULK3):c.669G>C (p.Glu223Asp)	ULK3 (E223D +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 2490627	NM_001099436.4(ULK3):c.1082C>T (p.Ser361Phe)	ULK3 (S244F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488284	NM_001099436.4(ULK3):c.532C>G (p.Leu178Val)	ULK3 (L178V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479642	NM_001099436.4(ULK3):c.1385C>T (p.Ser462Leu)	ULK3 (S473L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427095	NC_000015.9:g.(?_72978569)_(75190071_?)dup	ADPGK, ARID3B +29 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 2407267	NM_001099436.4(ULK3):c.22C>T (p.Pro8Ser)	ULK3 (P8S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2338179	NM_001099436.4(ULK3):c.1349G>A (p.Arg450His)	ULK3 (R333H +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2315239	NM_001099436.4(ULK3):c.1251G>T (p.Glu417Asp)	ULK3 (E417D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312118	NM_001099436.4(ULK3):c.20G>A (p.Gly7Asp)	ULK3 (G7D)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2312117	NM_001099436.4(ULK3):c.1196C>T (p.Ala399Val)	ULK3 (A282V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2298274	NM_001099436.4(ULK3):c.1336A>G (p.Met446Val)	ULK3 (M329V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2294065	NM_001099436.4(ULK3):c.1054A>C (p.Asn352His)	ULK3 (N235H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2268046	NM_001099436.4(ULK3):c.820C>A (p.His274Asn)	ULK3 (H157N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2261791	NM_001099436.4(ULK3):c.76G>A (p.Ala26Thr)	ULK3 (A26T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2244726	NM_001099436.4(ULK3):c.857C>T (p.Ala286Val)	ULK3 (A169V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2228722	NM_001099436.4(ULK3):c.23C>T (p.Pro8Leu)	ULK3 (P8L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2207303	NM_001099436.4(ULK3):c.731G>A (p.Arg244Gln)	ULK3 (R255Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204895	NM_001099436.4(ULK3):c.845G>A (p.Gly282Glu)	ULK3 (G282E +2 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	ARPIN-AP3S2, COMMD4 +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 787681	NM_001099436.4(ULK3):c.1404T>G (p.Ser468=)	ULK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 776932	NM_001099436.4(ULK3):c.302G>A (p.Arg101His)	ULK3 (R101H)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 774943	NM_001099436.4(ULK3):c.531C>G (p.Pro177=)	ULK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 740145	NM_001099436.4(ULK3):c.470-4G>A	MIR6882, ULK3	Single nucleotide variant (non-coding transcript variant +1 more)	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	AAGAB, ABHD17C +523 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)	AAGAB, ABHD17C +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	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 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
Select item 154952	GRCh38/hg38 15q23-26.3(chr15:72154949-101920998)x3	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 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

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Links from Gene

Items: 86