ClinVar for Gene (Select 10620) - ClinVar

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Links from Gene

Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314631	NM_006465.4(ARID3B):c.985C>T (p.Pro329Ser)	ARID3B (P329S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314622	NM_006465.4(ARID3B):c.1229C>G (p.Ala410Gly)	ARID3B (A410G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314612	NM_006465.4(ARID3B):c.51G>C (p.Gln17His)	ARID3B (Q17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314601	NM_006465.4(ARID3B):c.49C>G (p.Gln17Glu)	ARID3B (Q17E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314591	NM_006465.4(ARID3B):c.1397T>C (p.Met466Thr)	ARID3B (M466T)	Single nucleotide variant (missense variant)	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 3129449	NM_006465.4(ARID3B):c.490G>A (p.Ala164Thr)	ARID3B (A164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129448	NM_006465.4(ARID3B):c.475A>G (p.Lys159Glu)	ARID3B (K159E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129447	NM_006465.4(ARID3B):c.1651A>G (p.Ser551Gly)	ARID3B (S551G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129445	NM_006465.4(ARID3B):c.1594A>G (p.Ser532Gly)	ARID3B (S532G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129444	NM_006465.4(ARID3B):c.1249C>G (p.Arg417Gly)	ARID3B (R417G)	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 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
Select item 2546946	NM_006465.4(ARID3B):c.1414G>A (p.Gly472Ser)	ARID3B (G472S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535482	NM_006465.4(ARID3B):c.622A>G (p.Lys208Glu)	ARID3B (K208E)	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 2485761	NM_006465.4(ARID3B):c.161C>T (p.Ser54Phe)	ARID3B (S54F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461012	NM_006465.4(ARID3B):c.1385G>A (p.Arg462Gln)	ARID3B (R462Q)	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 2356733	NM_006465.4(ARID3B):c.568T>C (p.Trp190Arg)	ARID3B (W190R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345370	NM_006465.4(ARID3B):c.679G>A (p.Val227Ile)	ARID3B (V227I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331170	NM_006465.4(ARID3B):c.388C>G (p.Gln130Glu)	ARID3B (Q130E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319132	NM_006465.4(ARID3B):c.1048G>A (p.Gly350Arg)	ARID3B (G350R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316063	NM_006465.4(ARID3B):c.982C>T (p.Arg328Trp)	ARID3B (R328W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305585	NM_006465.4(ARID3B):c.1339C>T (p.Arg447Cys)	ARID3B (R447C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289381	NM_006465.4(ARID3B):c.13C>G (p.Gln5Glu)	ARID3B (Q5E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251531	NM_006465.4(ARID3B):c.439C>T (p.Pro147Ser)	ARID3B (P147S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239214	NM_006465.4(ARID3B):c.1472T>G (p.Ile491Ser)	ARID3B (I491S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233189	NM_006465.4(ARID3B):c.497C>T (p.Pro166Leu)	ARID3B (P166L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226609	NM_006465.4(ARID3B):c.1204C>T (p.Arg402Cys)	ARID3B (R402C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210514	NM_006465.4(ARID3B):c.1049G>C (p.Gly350Ala)	ARID3B (G350A)	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	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 815734	GRCh37/hg19 15q24.1-24.2(chr15:72943184-75567198)x1	ADPGK, ARID3B +37 more	Copy number loss	not provided	GPathogenic
Select item 782339	NM_006465.4(ARID3B):c.789G>A (p.Val263=)	ARID3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 777463	NM_006465.4(ARID3B):c.712C>A (p.Arg238=)	ARID3B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 710818	NM_006465.4(ARID3B):c.1527G>A (p.Leu509=)	ARID3B	Single nucleotide variant (synonymous 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 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 152606	GRCh38/hg38 15q24.1(chr15:74489587-74548113)x3	ARID3B, LOC121530592 +5 more	Copy number gain	See cases	GLikely benign
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: 70