ClinVar for Gene (Select 1198) - ClinVar

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

Links from Gene

Items: 77

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3145889	NM_001130028.2(CLK3):c.287G>T (p.Arg96Leu)	CLK3 (R96L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145888	NM_001130028.2(CLK3):c.212G>C (p.Arg71Pro)	CLK3 (R71P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145887	NM_001130028.2(CLK3):c.194G>A (p.Arg65His)	CLK3 (R65H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145886	NM_001130028.2(CLK3):c.185G>A (p.Arg62Gln)	CLK3 (R62Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145885	NM_001130028.2(CLK3):c.134G>A (p.Arg45Gln)	CLK3 (R45Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145884	NM_001130028.1(CLK3):c.359T>A (p.Leu120Gln)	CLK3, LOC130057544 (L120Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3145883	NM_001130028.2(CLK3):c.1438C>T (p.Arg480Trp)	CLK3 (R480W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145881	NM_001130028.2(CLK3):c.1427C>T (p.Thr476Ile)	CLK3 (T476I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145880	NM_001130028.2(CLK3):c.1352G>A (p.Arg451Lys)	CLK3 (R451K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145879	NM_001130028.1(CLK3):c.161G>A (p.Arg54His)	CLK3, LOC130057544 (R54H)	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 2619229	NM_001130028.2(CLK3):c.920A>T (p.Glu307Val)	CLK3 (E307V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618083	NM_001130028.2(CLK3):c.-48G>A	CLK3, LOC130057544	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2605949	NM_001130028.2(CLK3):c.17G>A (p.Arg6Gln)	CLK3 (R6Q)	Single nucleotide variant (missense variant)	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 2552970	NM_001130028.2(CLK3):c.541T>C (p.Ser181Pro)	CLK3 (S181P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545514	NM_001130028.2(CLK3):c.315G>C (p.Lys105Asn)	CLK3 (K105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544690	NM_001130028.1(CLK3):c.196C>T (p.Arg66Cys)	CLK3, LOC130057544 (R66C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514420	NM_001130028.2(CLK3):c.116G>A (p.Arg39Gln)	CLK3 (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508347	NM_001130028.1(CLK3):c.59G>C (p.Arg20Pro)	CLK3, LOC130057544 (R20P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 2494753	NM_001130028.2(CLK3):c.1169T>C (p.Leu390Pro)	CLK3 (L390P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479464	NM_001130028.2(CLK3):c.229C>G (p.Pro77Ala)	CLK3 (P77A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471992	NM_001130028.1(CLK3):c.233G>T (p.Arg78Leu)	CLK3, LOC130057544 (R78L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458150	NM_001130028.1(CLK3):c.172G>A (p.Ala58Thr)	CLK3, LOC130057544 (A58T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2456342	NM_001130028.2(CLK3):c.583C>T (p.Arg195Trp)	CLK3 (R195W)	Single nucleotide variant (missense variant)	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 2389807	NM_001130028.2(CLK3):c.206C>T (p.Thr69Ile)	CLK3 (T69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385589	NM_001130028.2(CLK3):c.211C>T (p.Arg71Trp)	CLK3 (R71W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369667	NM_001130028.2(CLK3):c.143G>A (p.Arg48Gln)	CLK3 (R48Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365283	NM_001130028.1(CLK3):c.188G>T (p.Gly63Val)	CLK3, LOC130057544 (G63V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355428	NM_001130028.2(CLK3):c.241G>C (p.Glu81Gln)	CLK3 (E81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351044	NM_001130028.1(CLK3):c.181G>T (p.Gly61Trp)	CLK3, LOC130057544 (G61W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310586	NM_001130028.2(CLK3):c.142C>T (p.Arg48Trp)	CLK3 (R48W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304522	NM_001130028.1(CLK3):c.223C>T (p.Leu75Phe)	CLK3, LOC130057544 (L75F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303776	NM_001130028.1(CLK3):c.266C>G (p.Pro89Arg)	CLK3, LOC130057544 (P89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286740	NM_001130028.1(CLK3):c.205G>A (p.Gly69Ser)	CLK3, LOC130057544 (G69S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2285643	NM_001130028.2(CLK3):c.1262G>A (p.Gly421Asp)	CLK3 (G421D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283324	NM_001130028.2(CLK3):c.145T>C (p.Ser49Pro)	CLK3 (S49P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257365	NM_001130028.2(CLK3):c.475G>C (p.Val159Leu)	CLK3 (V159L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247568	NM_001130028.2(CLK3):c.1070T>C (p.Val357Ala)	CLK3 (V357A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210371	NM_001130028.2(CLK3):c.184C>T (p.Arg62Trp)	CLK3 (R62W)	Single nucleotide variant (missense variant)	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	ALDH1A2, ALPK3 +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 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 686659	GRCh37/hg19 15q24.1(chr15:74909710-74974543)x3	CLK3, EDC3	Copy number gain	not provided	GUncertain significance
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

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: 77