ACSBG1[gene] - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	ABHD17C, ABHD2 +1244 more	Copy number gain	See cases	GPathogenic
Select item 147979	GRCh38/hg38 15q24.2-25.1(chr15:76006154-79982417)x1	LOC130057730, LOC132090332 +175 more	Copy number loss	See cases	GPathogenic
Select item 57247	GRCh38/hg38 15q24.3-25.1(chr15:77640317-78459174)x3	ACSBG1, CIB2 +46 more	Copy number gain	See cases	GUncertain significance
Select item 2023029	NM_005530.3(IDH3A):c.1018-5C>T	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1166670	NM_005530.3(IDH3A):c.1026A>G (p.Thr342=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1167067	NM_005530.3(IDH3A):c.1032T>C (p.Asp344=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	IDH3A-related disorder +1 more	GBenign
Select item 2164583	NM_005530.3(IDH3A):c.1044T>C (p.Asn348=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2060387	NM_005530.3(IDH3A):c.1046C>T (p.Ala349Val)	ACSBG1, IDH3A (A349V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1150594	NM_005530.3(IDH3A):c.1047A>G (p.Ala349=)	IDH3A, ACSBG1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1489360	NM_005530.3(IDH3A):c.1048A>G (p.Lys350Glu)	ACSBG1, IDH3A (K350E)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1146800	NM_005530.3(IDH3A):c.1078C>T (p.Arg360Cys)	ACSBG1, IDH3A (R360C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 1041031	NM_005530.3(IDH3A):c.1079G>A (p.Arg360His)	ACSBG1, IDH3A (R360H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2798728	NM_005530.3(IDH3A):c.1080C>T (p.Arg360=)	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1366668	NM_005530.3(IDH3A):c.1081C>T (p.Arg361Ter)	ACSBG1, IDH3A (R361*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 1484624	NM_005530.3(IDH3A):c.1082G>A (p.Arg361Gln)	ACSBG1, IDH3A (R361Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GUncertain significance
Select item 1230438	NM_005530.3(IDH3A):c.*110A>G	ACSBG1, IDH3A	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2262195	NM_015162.5(ACSBG1):c.2077G>A (p.Gly693Ser)	ACSBG1 (G693S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 718037	NM_015162.5(ACSBG1):c.2076G>A (p.Ser692=)	ACSBG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2513862	NM_015162.5(ACSBG1):c.2024G>A (p.Arg675Gln)	ACSBG1 (R671Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785502	NM_015162.5(ACSBG1):c.2013C>T (p.Asn671=)	ACSBG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2241328	NM_015162.5(ACSBG1):c.1898T>C (p.Met633Thr)	ACSBG1 (M629T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604539	NM_015162.5(ACSBG1):c.1709T>A (p.Ile570Asn)	ACSBG1 (I566N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268747	NM_015162.5(ACSBG1):c.1657C>T (p.Arg553Cys)	ACSBG1 (R549C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709282	NM_015162.5(ACSBG1):c.1624G>A (p.Glu542Lys)	ACSBG1 (E542K +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2254730	NM_015162.5(ACSBG1):c.1538A>C (p.Glu513Ala)	ACSBG1 (E509A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139340	NM_015162.5(ACSBG1):c.1511G>A (p.Arg504Gln)	ACSBG1 (R500Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459908	NM_015162.5(ACSBG1):c.1504G>A (p.Gly502Ser)	ACSBG1 (G498S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490040	NM_015162.5(ACSBG1):c.1490G>A (p.Gly497Asp)	ACSBG1 (G497D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139331	NM_015162.5(ACSBG1):c.1364T>C (p.Met455Thr)	ACSBG1 (M451T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275255	NM_015162.5(ACSBG1):c.1355C>T (p.Ala452Val)	ACSBG1 (A448V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241744	NM_015162.5(ACSBG1):c.1349A>G (p.Tyr450Cys)	ACSBG1 (Y450C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139319	NM_015162.5(ACSBG1):c.1340A>C (p.Lys447Thr)	ACSBG1 (K443T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745105	NM_015162.5(ACSBG1):c.1258C>T (p.Leu420=)	ACSBG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3139318	NM_015162.5(ACSBG1):c.1247C>G (p.Pro416Arg)	ACSBG1 (P412R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277985	NM_015162.5(ACSBG1):c.1209G>T (p.Trp403Cys)	ACSBG1 (W399C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318231	NM_015162.5(ACSBG1):c.1094G>A (p.Arg365Gln)	ACSBG1 (R361Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139310	NM_015162.5(ACSBG1):c.1093C>T (p.Arg365Trp)	ACSBG1 (R361W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139423	NM_015162.5(ACSBG1):c.928G>A (p.Gly310Ser)	ACSBG1 (G306S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610849	NM_015162.5(ACSBG1):c.911G>C (p.Arg304Pro)	ACSBG1 (R300P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213582	NM_015162.5(ACSBG1):c.911G>A (p.Arg304Gln)	ACSBG1 (R300Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139415	NM_015162.5(ACSBG1):c.910C>T (p.Arg304Trp)	ACSBG1 (R304W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348649	NM_015162.5(ACSBG1):c.862A>G (p.Asn288Asp)	ACSBG1 (N288D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2329577	NM_015162.5(ACSBG1):c.853A>C (p.Thr285Pro)	ACSBG1 (T281P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537263	NM_015162.5(ACSBG1):c.788C>A (p.Ala263Asp)	ACSBG1 (A263D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619621	NM_015162.5(ACSBG1):c.751G>A (p.Glu251Lys)	ACSBG1 (E247K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139406	NM_015162.5(ACSBG1):c.702A>G (p.Ile234Met)	ACSBG1 (I230M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139404	NM_015162.5(ACSBG1):c.683A>T (p.His228Leu)	ACSBG1 (H228L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541017	NM_015162.5(ACSBG1):c.635C>T (p.Thr212Met)	ACSBG1 (T208M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386507	NM_015162.5(ACSBG1):c.472C>A (p.His158Asn)	ACSBG1 (H158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253066	NM_015162.5(ACSBG1):c.377G>T (p.Arg126Leu)	ACSBG1 (R126L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139375	NM_015162.5(ACSBG1):c.272G>A (p.Arg91His)	ACSBG1 (R91H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243073	NM_015162.5(ACSBG1):c.248C>A (p.Thr83Lys)	ACSBG1 (T83K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231068	NM_015162.5(ACSBG1):c.239C>T (p.Ala80Val)	ACSBG1 (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 150994	GRCh38/hg38 15q25.1(chr15:78198708-78912913)x3	ACSBG1, ADAMTS7 +35 more	Copy number gain	See cases	GLikely benign
Select item 3139357	NM_015162.5(ACSBG1):c.184G>A (p.Glu62Lys)	ACSBG1 (E62K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2293208	NM_015162.5(ACSBG1):c.179C>G (p.Ala60Gly)	ACSBG1 (A60G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284138	NM_015162.5(ACSBG1):c.106A>G (p.Thr36Ala)	ACSBG1 (T36A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317171	NM_015162.5(ACSBG1):c.73C>G (p.Pro25Ala)	ACSBG1 (P25A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598171	NM_015162.5(ACSBG1):c.40G>A (p.Gly14Arg)	ACSBG1 (G14R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2216190	NM_015162.5(ACSBG1):c.35C>T (p.Pro12Leu)	ACSBG1 (P12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3139383	NM_015162.5(ACSBG1):c.28G>A (p.Gly10Ser)	ACSBG1 (G10S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2386243	NM_015162.5(ACSBG1):c.7C>T (p.Arg3Cys)	ACSBG1 (R3C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580298	GRCh37/hg19 15q24.1-26.3(chr15:75165490-102520892)x3	ABHD17C, ABHD2 +174 more	Copy number gain	See cases	GPathogenic
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 1809424	GRCh37/hg19 15q24.3-26.3(chr15:77512817-102035027)x3	ABHD17C, ABHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 1809140	GRCh37/hg19 15q25.1(chr15:78488482-78757311)x3	ACSBG1, CRABP1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 564222	GRCh37/hg19 15q24.3-25.1(chr15:78193071-78767884)x3	WDR61, SH2D7 +7 more	Copy number gain	not provided	GUncertain significance
Select item 564221	GRCh37/hg19 15q24.3-26.3(chr15:77479244-102429112)x3	ABHD17C, ABHD2 +143 more	Copy number gain	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 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 443269	GRCh37/hg19 15q24.2-26.3(chr15:76061144-102429112)x3	ABHD17C, ABHD2 +153 more	Copy number gain	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 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 253516	GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3	AAGAB, ABHD17C +279 more	Copy number gain	See cases	GPathogenic

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Items: 80