GOLGA6A[gene] - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	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 58078	GRCh38/hg38 15q24.1-24.2(chr15:72629028-75242989)x3	ADPGK, ADPGK-AS1 +204 more	Copy number gain	See cases	GPathogenic
Select item 545182	Single allele	LOC130057525, LOC130057526 +205 more	Duplication	Schizophrenia	GLikely pathogenic
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 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 57428	GRCh38/hg38 15q24.1-24.2(chr15:72671629-75662276)x1	ADPGK, ADPGK-AS1 +236 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 2343635	NM_001038640.2(GOLGA6A):c.2041C>G (p.Gln681Glu)	GOLGA6A (Q681E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3100826	NM_001038640.2(GOLGA6A):c.2014G>C (p.Gly672Arg)	GOLGA6A (G672R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681301	NM_001038640.2(GOLGA6A):c.1984G>A (p.Val662Met)	GOLGA6A (V662M)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2343424	NM_001038640.2(GOLGA6A):c.1955T>A (p.Val652Asp)	GOLGA6A (V652D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463181	NM_001038640.2(GOLGA6A):c.1950G>T (p.Gln650His)	GOLGA6A (Q650H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509969	NM_001038640.2(GOLGA6A):c.1942G>A (p.Gly648Ser)	GOLGA6A (G648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672593	NM_001038640.2(GOLGA6A):c.1932T>G (p.Leu644=)	GOLGA6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3100825	NM_001038640.2(GOLGA6A):c.1927G>A (p.Glu643Lys)	GOLGA6A (E643K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554927	NM_001038640.2(GOLGA6A):c.1912G>C (p.Ala638Pro)	GOLGA6A (A638P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3100823	NM_001038640.2(GOLGA6A):c.1880C>T (p.Ala627Val)	GOLGA6A (A627V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100822	NM_001038640.2(GOLGA6A):c.1876G>A (p.Ala626Thr)	GOLGA6A (A626T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281891	NM_001038640.2(GOLGA6A):c.1874T>C (p.Ile625Thr)	GOLGA6A (I625T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354934	NM_001038640.2(GOLGA6A):c.1859A>G (p.His620Arg)	GOLGA6A (H620R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281892	NM_001038640.2(GOLGA6A):c.1851T>G (p.His617Gln)	GOLGA6A (H617Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275373	NM_001038640.2(GOLGA6A):c.1834C>T (p.Pro612Ser)	GOLGA6A (P612S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100821	NM_001038640.2(GOLGA6A):c.1816C>G (p.Leu606Val)	GOLGA6A (L606V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398378	NM_001038640.2(GOLGA6A):c.1806G>T (p.Lys602Asn)	GOLGA6A (K602N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613907	NM_001038640.2(GOLGA6A):c.1798A>G (p.Lys600Glu)	GOLGA6A (K600E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595338	NM_001038640.2(GOLGA6A):c.1729G>T (p.Ala577Ser)	GOLGA6A (A577S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 545183	Single allele	MIR6882, MPI +258 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 2563168	NM_001038640.2(GOLGA6A):c.1652G>A (p.Arg551Gln)	GOLGA6A (R551Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540876	NM_001038640.2(GOLGA6A):c.1651C>G (p.Arg551Gly)	GOLGA6A (R551G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100820	NM_001038640.2(GOLGA6A):c.1483G>A (p.Val495Met)	GOLGA6A (V495M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289183	NM_001038640.2(GOLGA6A):c.1231G>A (p.Asp411Asn)	GOLGA6A (D411N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100819	NM_001038640.2(GOLGA6A):c.1187G>A (p.Arg396Gln)	GOLGA6A (R396Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231336	NM_001038640.2(GOLGA6A):c.1165C>T (p.Arg389Cys)	GOLGA6A (R389C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100818	NM_001038640.2(GOLGA6A):c.1118C>T (p.Thr373Met)	GOLGA6A (T373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645533	NM_001038640.2(GOLGA6A):c.1104G>A (p.Arg368=)	GOLGA6A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2276060	NM_001038640.2(GOLGA6A):c.1093G>A (p.Glu365Lys)	GOLGA6A (E365K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231409	NM_001038640.2(GOLGA6A):c.1052C>T (p.Ala351Val)	GOLGA6A (A351V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376412	NM_001038640.2(GOLGA6A):c.952C>G (p.Leu318Val)	GOLGA6A (L318V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378126	NM_001038640.2(GOLGA6A):c.895C>G (p.Gln299Glu)	GOLGA6A (Q299E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621170	NM_001038640.2(GOLGA6A):c.853C>A (p.Pro285Thr)	GOLGA6A (P285T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349627	NM_001038640.2(GOLGA6A):c.850G>A (p.Glu284Lys)	GOLGA6A (E284K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466279	NM_001038640.2(GOLGA6A):c.752C>T (p.Ser251Leu)	GOLGA6A (S251L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100830	NM_001038640.2(GOLGA6A):c.664C>G (p.Leu222Val)	GOLGA6A (L222V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100829	NM_001038640.2(GOLGA6A):c.660G>C (p.Glu220Asp)	GOLGA6A (E220D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100828	NM_001038640.2(GOLGA6A):c.596G>T (p.Arg199Leu)	GOLGA6A (R199L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265350	NM_001038640.2(GOLGA6A):c.592C>A (p.Gln198Lys)	GOLGA6A (Q198K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100827	NM_001038640.2(GOLGA6A):c.566C>A (p.Ser189Tyr)	GOLGA6A (S189Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371921	NM_001038640.2(GOLGA6A):c.203A>T (p.Asp68Val)	GOLGA6A (D68V)	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 2574692	GRCh37/hg19 15q24.1-24.2(chr15:72943184-76085232)	ADPGK, ARID3B +48 more	Copy number loss	Chromosome 15q24 deletion syndrome	GPathogenic
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 1808735	GRCh37/hg19 15q24.1-24.3(chr15:74353736-77884397)x1	ARID3B, C15orf39 +48 more	Copy number loss	not provided	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 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 564216	GRCh37/hg19 15q24.1(chr15:74315568-74654641)x3	CCDC33, CYP11A1 +5 more	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	PDIA3, PEAK1 +521 more	Duplication	not provided	GPathogenic
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

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Items: 78