ClinVar for Gene (Select 55889) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341557	NM_018652.5(GOLGA6B):c.623G>A (p.Arg208Gln)	GOLGA6B (R208Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3281894	NM_018652.5(GOLGA6B):c.872C>T (p.Pro291Leu)	GOLGA6B (P291L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3281893	NM_018652.5(GOLGA6B):c.599G>A (p.Arg200Gln)	GOLGA6B (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100832	NM_018652.5(GOLGA6B):c.1981A>T (p.Asn661Tyr)	GOLGA6B (N661Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3100831	NM_018652.5(GOLGA6B):c.1859A>G (p.His620Arg)	GOLGA6B (H620R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2645514	NM_018652.5(GOLGA6B):c.2020C>T (p.Pro674Ser)	GOLGA6B (P674S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2645513	NM_018652.5(GOLGA6B):c.1092C>T (p.Asn364=)	GOLGA6B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2600313	NM_018652.5(GOLGA6B):c.1285A>G (p.Arg429Gly)	GOLGA6B (R429G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591158	NM_018652.5(GOLGA6B):c.1712T>C (p.Val571Ala)	GOLGA6B (V571A)	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 2529827	NM_018652.5(GOLGA6B):c.1279G>A (p.Glu427Lys)	GOLGA6B (E427K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523693	NM_018652.5(GOLGA6B):c.1118C>T (p.Thr373Met)	GOLGA6B (T373M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512499	NM_018652.5(GOLGA6B):c.2030A>G (p.Asn677Ser)	GOLGA6B (N677S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511037	NM_018652.5(GOLGA6B):c.1177G>A (p.Glu393Lys)	GOLGA6B (E393K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509970	NM_018652.5(GOLGA6B):c.1942G>A (p.Gly648Ser)	GOLGA6B (G648S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509833	NM_018652.5(GOLGA6B):c.1187G>A (p.Arg396Gln)	GOLGA6B (R396Q)	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 2492745	NM_018652.5(GOLGA6B):c.1392G>C (p.Gln464His)	GOLGA6B (Q464H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465206	NM_018652.5(GOLGA6B):c.724C>T (p.Arg242Trp)	GOLGA6B (R242W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460116	NM_018652.5(GOLGA6B):c.979G>C (p.Ala327Pro)	GOLGA6B (A327P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456069	NM_018652.5(GOLGA6B):c.911C>T (p.Ala304Val)	GOLGA6B (A304V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425358	NC_000015.9:g.(?_72847592)_(73660611_?)dup	ADPGK, ARIH1 +4 more	Duplication	Brugada syndrome 8	GUncertain significance
Select item 2423198	NC_000015.9:g.(?_72636418)_(73660611_?)dup	ADPGK, ARIH1 +6 more	Duplication	Tay-Sachs disease	GUncertain significance
Select item 2412073	NM_018652.5(GOLGA6B):c.931G>T (p.Val311Leu)	GOLGA6B (V311L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402327	NM_018652.5(GOLGA6B):c.1925A>T (p.Gln642Leu)	GOLGA6B (Q642L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399486	NM_018652.5(GOLGA6B):c.1582C>T (p.Arg528Trp)	GOLGA6B (R528W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397564	NM_018652.5(GOLGA6B):c.1063C>T (p.Arg355Trp)	GOLGA6B (R355W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394247	NM_018652.5(GOLGA6B):c.938G>T (p.Gly313Val)	GOLGA6B (G313V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379437	NM_018652.5(GOLGA6B):c.1178A>G (p.Glu393Gly)	GOLGA6B (E393G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377571	NM_018652.5(GOLGA6B):c.686G>A (p.Arg229Gln)	GOLGA6B (R229Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377550	NM_018652.5(GOLGA6B):c.1531G>C (p.Glu511Gln)	GOLGA6B (E511Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359372	NM_018652.5(GOLGA6B):c.1511G>A (p.Gly504Glu)	GOLGA6B (G504E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356646	NM_018652.5(GOLGA6B):c.1291G>A (p.Ala431Thr)	GOLGA6B (A431T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353293	NM_018652.5(GOLGA6B):c.1547G>A (p.Arg516Gln)	GOLGA6B (R516Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349825	NM_018652.5(GOLGA6B):c.1876G>A (p.Ala626Thr)	GOLGA6B (A626T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347950	NM_018652.5(GOLGA6B):c.1165C>T (p.Arg389Cys)	GOLGA6B (R389C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346250	NM_018652.5(GOLGA6B):c.2026G>A (p.Asp676Asn)	GOLGA6B (D676N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342781	NM_018652.5(GOLGA6B):c.1275G>C (p.Lys425Asn)	GOLGA6B (K425N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341885	NM_018652.5(GOLGA6B):c.1292C>T (p.Ala431Val)	GOLGA6B (A431V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340910	NM_018652.5(GOLGA6B):c.1433T>G (p.Leu478Arg)	GOLGA6B (L478R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340375	NM_018652.5(GOLGA6B):c.1048G>C (p.Glu350Gln)	GOLGA6B (E350Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332880	NM_018652.5(GOLGA6B):c.1126G>A (p.Glu376Lys)	GOLGA6B (E376K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326346	NM_018652.5(GOLGA6B):c.1801G>T (p.Val601Leu)	GOLGA6B (V601L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257766	NM_018652.5(GOLGA6B):c.2069T>C (p.Met690Thr)	GOLGA6B (M690T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208560	NM_018652.5(GOLGA6B):c.1000G>A (p.Glu334Lys)	GOLGA6B (E334K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207474	NM_018652.5(GOLGA6B):c.1102C>T (p.Arg368Trp)	GOLGA6B (R368W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1458323	NC_000015.9:g.(?_72103084)_(74244178_?)del	ADPGK, ARIH1 +19 more	Deletion	Tay-Sachs disease	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 980531	GRCh37/hg19 15q23-24.1(chr15:70268937-74098081)x1	BBS4, NR2E3 +24 more	Copy number loss	not provided	GLikely pathogenic
Select item 831142	NC_000015.10:g.(?_72353681)_(73368280_?)dup	ADPGK, ARIH1 +6 more	Duplication	Brugada syndrome 8	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 687381	GRCh37/hg19 15q24.1-24.2(chr15:72926922-75544524)x1	ADPGK, ARID3B +36 more	Copy number loss	not provided	GPathogenic
Select item 685982	GRCh37/hg19 15q24.1(chr15:72825914-73067234)x1	ADPGK, ARIH1 +2 more	Copy number loss	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 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 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 153193	GRCh38/hg38 15q23-25.1(chr15:70025300-78705993)x1	ACSBG1, ADPGK +487 more	Copy number loss	See cases	GPathogenic
Select item 151933	GRCh38/hg38 15q24.1(chr15:72629028-72665084)x3	GOLGA6B, LINC02259	Copy number gain	See cases	GBenign
Select item 147526	GRCh38/hg38 15q23-24.1(chr15:72366869-72671688)x1	ARIH1, GOLGA6B +15 more	Copy number loss	See cases	GUncertain significance
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 57140	GRCh38/hg38 15q23-24.1(chr15:68830574-73823337)x1	ADPGK, ADPGK-AS1 +197 more	Copy number loss	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 75