B3GAT1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	LOC130006930, LOC130006931 +1199 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	MPZL3, MSANTD2 +769 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	LOC129390375, LOC129390376 +764 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	POU2F3, PRDM10 +764 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	ABCG4, ACAD8 +763 more	Copy number gain	See cases	GPathogenic
Select item 57503	GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3	ABCG4, ACAD8 +635 more	Copy number gain	See cases	GPathogenic
Select item 545140	Single allele	LOC130007028, LOC130007029 +608 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 150032	GRCh38/hg38 11q23.3-25(chr11:119424297-135075271)x1	ACAD8, ACRV1 +551 more	Copy number loss	See cases	GPathogenic
Select item 57238	GRCh38/hg38 11q23.3-25(chr11:119433909-134998513)x1	ACAD8, ACRV1 +549 more	Copy number loss	See cases	GPathogenic
Select item 59777	GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3	OR8G5, PANX3 +519 more	Copy number gain	See cases	GPathogenic
Select item 58924	GRCh38/hg38 11q23.3-25(chr11:120507265-134576266)x1	LOC129390377, LOC129390378 +488 more	Copy number loss	See cases	GPathogenic
Select item 149328	GRCh38/hg38 11q23.3-25(chr11:120515759-135075271)x1	ACAD8, ACRV1 +497 more	Copy number loss	See cases	GPathogenic
Select item 154016	GRCh38/hg38 11q24.1-25(chr11:121611476-135068576)x1	ACAD8, ACRV1 +444 more	Copy number loss	See cases	GPathogenic
Select item 150820	GRCh38/hg38 11q24.1-25(chr11:121689052-135075271)x1	ACAD8, ACRV1 +442 more	Copy number loss	See cases	GPathogenic
Select item 148952	GRCh38/hg38 11q24.1-25(chr11:121780459-135075271)x1	LOC130007011, LOC130007012 +440 more	Copy number loss	See cases	GPathogenic
Select item 154045	GRCh38/hg38 11q24.1-25(chr11:121806547-135068576)x1	ACAD8, ACRV1 +439 more	Copy number loss	See cases	GPathogenic
Select item 145308	GRCh38/hg38 11q24.1-25(chr11:123799938-134998526)x1	ST14, ST3GAL4 +368 more	Copy number loss	See cases	GPathogenic
Select item 149547	GRCh38/hg38 11q24.1-25(chr11:123963074-135075271)x1	LOC130007071, LOC130007072 +363 more	Copy number loss	See cases	GPathogenic
Select item 57206	GRCh38/hg38 11q24.2-25(chr11:124155723-134998513)x1	ACAD8, ACRV1 +353 more	Copy number loss	See cases	GPathogenic
Select item 145337	GRCh38/hg38 11q24.2-25(chr11:124205225-134998526)x1	LOC112061823, LOC112067710 +352 more	Copy number loss	See cases	GPathogenic
Select item 151164	GRCh38/hg38 11q24.2-25(chr11:124315025-134818116)x1	TMEM218, TMEM45B +343 more	Copy number loss	See cases	GPathogenic
Select item 149702	GRCh38/hg38 11q24.2-25(chr11:124940059-135075271)x1	LOC130007029, LOC130007030 +312 more	Copy number loss	See cases	GPathogenic
Select item 147420	GRCh38/hg38 11q24.2-25(chr11:125241472-134998513)x1	ACAD8, ACRV1 +299 more	Copy number loss	See cases	GPathogenic
Select item 149105	GRCh38/hg38 11q24.2-25(chr11:126046358-135075271)x1	FOXRED1, GLB1L2 +266 more	Copy number loss	See cases	GPathogenic
Select item 147401	GRCh38/hg38 11q24.2-25(chr11:126046358-134998513)x1	ACAD8, ADAMTS15 +265 more	Copy number loss	See cases	GPathogenic
Select item 150232	GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1	LOC121392949, LOC121392950 +261 more	Copy number loss	See cases	GPathogenic
Select item 58948	GRCh38/hg38 11q24.2-25(chr11:126433740-135040246)x1	ACAD8, ADAMTS15 +239 more	Copy number loss	See cases	GPathogenic
Select item 57456	GRCh38/hg38 11q24.2-25(chr11:126445805-134998513)x3	ACAD8, ADAMTS15 +239 more	Copy number gain	See cases	GPathogenic
Select item 148651	GRCh38/hg38 11q24.2-25(chr11:127564482-135075271)x1	ACAD8, ADAMTS15 +222 more	Copy number loss	See cases	GPathogenic
Select item 57189	GRCh38/hg38 11q24.2-25(chr11:127604660-134998454)x1	ACAD8, ADAMTS15 +221 more	Copy number loss	See cases	GPathogenic
Select item 155688	GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1	ACAD8, ADAMTS15 +220 more	Copy number loss	See cases	GPathogenic
Select item 58949	GRCh38/hg38 11q24.3-25(chr11:129700536-134998513)x1	ACAD8, ADAMTS15 +145 more	Copy number loss	See cases	GPathogenic
Select item 58950	GRCh38/hg38 11q24.3-25(chr11:130060292-135040246)x1	ACAD8, ADAMTS15 +123 more	Copy number loss	See cases	GPathogenic
Select item 154559	GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1	ACAD8, B3GAT1 +99 more	Copy number loss	See cases	GPathogenic
Select item 148509	GRCh38/hg38 11q25(chr11:131212028-135075271)x1	ACAD8, B3GAT1 +88 more	Copy number loss	See cases	GPathogenic
Select item 58951	GRCh38/hg38 11q25(chr11:131587470-134609295)x1	ACAD8, B3GAT1 +75 more	Copy number loss	See cases	GPathogenic
Select item 155588	GRCh38/hg38 11q25(chr11:132588975-135068576)x1	ACAD8, B3GAT1 +65 more	Copy number loss	See cases	GUncertain significance
Select item 144517	GRCh38/hg38 11q25(chr11:132936725-134998513)x1	ACAD8, B3GAT1 +62 more	Copy number loss	See cases	GPathogenic
Select item 155223	GRCh38/hg38 11q25(chr11:133169303-135068576)x1	ACAD8, B3GAT1 +60 more	Copy number loss	See cases	GLikely pathogenic
Select item 57259	GRCh38/hg38 11q25(chr11:134232099-134998513)x1	ACAD8, B3GAT1 +25 more	Copy number loss	See cases	GPathogenic
Select item 2341423	NM_054025.3(B3GAT1):c.985G>A (p.Asp329Asn)	B3GAT1 (D329N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328926	NM_054025.3(B3GAT1):c.888C>A (p.Asp296Glu)	B3GAT1 (D296E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256480	NM_054025.3(B3GAT1):c.787C>G (p.Arg263Gly)	B3GAT1 (R276G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 779385	NM_054025.3(B3GAT1):c.681C>T (p.Tyr227=)	B3GAT1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2386835	NM_054025.3(B3GAT1):c.608A>C (p.Glu203Ala)	B3GAT1 (E203A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2549886	NM_054025.3(B3GAT1):c.394C>G (p.Arg132Gly)	B3GAT1 (R132G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292144	NM_054025.3(B3GAT1):c.308C>T (p.Thr103Met)	B3GAT1 (T116M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2261971	NM_054025.3(B3GAT1):c.287C>T (p.Pro96Leu)	B3GAT1 (P109L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2366091	NM_054025.3(B3GAT1):c.211T>C (p.Tyr71His)	B3GAT1 (Y71H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249040	NM_054025.3(B3GAT1):c.190G>C (p.Val64Leu)	B3GAT1 (V64L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2235962	NM_054025.3(B3GAT1):c.97C>T (p.Leu33Phe)	B3GAT1 (L33F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063218	GRCh37/hg19 11q24.1-25(chr11:123523103-134938470)x1	ACAD8, ACRV1 +92 more	Copy number loss	not specified	GPathogenic
Select item 3063194	GRCh37/hg19 11q24.1-25(chr11:121423232-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	not specified	GPathogenic
Select item 3063192	GRCh37/hg19 11q24.2-25(chr11:125511834-134938470)x1	ACAD8, ACRV1 +49 more	Copy number loss	not specified	GPathogenic
Select item 3063191	GRCh37/hg19 11q25(chr11:132499295-134938470)x1	ACAD8, B3GAT1 +11 more	Copy number loss	not specified	GUncertain significance
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 2505490	GRCh37/hg19 11q25(chr11:131952484-134938470)x1	NTM, SPATA19 +12 more	Copy number loss	Feeding difficulties +3 more	GPathogenic
Select item 1809460	GRCh37/hg19 11q25(chr11:133760907-134938470)x1	ACAD8, B3GAT1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 1808846	GRCh37/hg19 11q25(chr11:133238757-134330730)x3	ACAD8, B3GAT1 +10 more	Copy number gain	not provided	GUncertain significance
Select item 1808652	GRCh37/hg19 11q24.1-25(chr11:122975824-134938470)x1	ACAD8, ACRV1 +94 more	Copy number loss	not provided	GPathogenic
Select item 1807802	GRCh37/hg19 11q25(chr11:130935635-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GLikely pathogenic
Select item 1711169	GRCh37/hg19 11q25(chr11:130880039-134938470)x3	ACAD8, B3GAT1 +12 more	Copy number gain	See cases	GPathogenic
Select item 1707620	GRCh37/hg19 11q24.2-25(chr11:127075189-134945120)x1	TP53AIP1, VPS26B +30 more	Copy number loss	Syndromic anorectal malformation	GLikely pathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1703539	GRCh37/hg19 11q24.3-25(chr11:130173156-134938470)	ACAD8, ADAMTS15 +17 more	Copy number gain	Seizure	GLikely pathogenic
Select item 1694653	GRCh37/hg19 11q24.3-25(chr11:128634685-134257741)x1	ACAD8, ADAMTS15 +28 more	Copy number loss	not provided	GPathogenic
Select item 979331	GRCh37/hg19 11q24.3-25(chr11:130128323-134938470)x1	NTM, IGSF9B +17 more	Copy number loss	not provided	GLikely pathogenic
Select item 979329	GRCh37/hg19 11q24.2-25(chr11:127602115-134938470)x1	ETS1, GLB1L3 +30 more	Copy number loss	not provided	GPathogenic
Select item 979328	GRCh37/hg19 11q24.2-25(chr11:125785487-134938470)x1	TP53AIP1, FLI1 +41 more	Copy number loss	not provided	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	AASDHPPT, ABCG4 +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 815489	GRCh37/hg19 11q25(chr11:134163400-134378532)x3	B3GAT1, GLB1L3 +1 more	Copy number gain	not provided	GLikely benign
Select item 815487	GRCh37/hg19 11q25(chr11:133841587-134507651)x3	JAM3, GLB1L3 +6 more	Copy number gain	not provided	GUncertain significance
Select item 815484	GRCh37/hg19 11q25(chr11:131327161-134938470)x3	NTM, VPS26B +12 more	Copy number gain	not provided	GUncertain significance
Select item 815477	GRCh37/hg19 11q24.2-25(chr11:124232608-134938470)x1	LINC02743, VSIG2 +74 more	Copy number loss	not provided	GPathogenic
Select item 815475	GRCh37/hg19 11q23.3-25(chr11:120742540-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	not provided	GPathogenic
Select item 812909	Single allele	ACAD8, ACRV1 +74 more	Deletion	Paris-Trousseau thrombocytopenia	GPathogenic
Select item 688697	GRCh37/hg19 11q25(chr11:134225962-134639743)x1	B3GAT1, GLB1L2 +1 more	Copy number loss	not provided	GUncertain significance
Select item 687995	GRCh37/hg19 11q25(chr11:130969272-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	not provided	GPathogenic
Select item 687452	GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3	ABCG4, ACAD8 +160 more	Copy number gain	not provided	GPathogenic
Select item 638099	GRCh37/hg19 11q23.3-25(chr11:120576984-134934063)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	ABCG4, ACAD8 +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563882	GRCh37/hg19 11q23.3-25(chr11:119538664-134938470)x1	ACAD8, ACRV1 +114 more	Copy number loss	not provided	GPathogenic
Select item 563879	GRCh37/hg19 11q24.3-25(chr11:129072293-134938470)x1	VPS26B, ACAD8 +23 more	Copy number loss	not provided	GPathogenic
Select item 563872	GRCh37/hg19 11q25(chr11:132187876-134938470)x1	B3GAT1, LINC02743 +12 more	Copy number loss	not provided	GPathogenic
Select item 548978	GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1	FOXRED1, ST3GAL4 +39 more	Copy number loss	See cases	GPathogenic
Select item 446335	GRCh37/hg19 11q25(chr11:133923605-134934063)x3	ACAD8, B3GAT1 +7 more	Copy number gain	See cases	GUncertain significance
Select item 443847	GRCh37/hg19 11q24.1-25(chr11:122884694-134938470)x3	ACAD8, ACRV1 +95 more	Copy number gain	See cases	GPathogenic
Select item 443289	GRCh37/hg19 11q23.3-25(chr11:120527021-134938470)x1	ACAD8, ACRV1 +108 more	Copy number loss	See cases	GPathogenic
Select item 442908	GRCh37/hg19 11q24.1-25(chr11:121416261-134938470)x1	ACAD8, ACRV1 +104 more	Copy number loss	See cases	GPathogenic
Select item 442904	GRCh37/hg19 11q25(chr11:133609389-134938470)x1	ACAD8, B3GAT1 +10 more	Copy number loss	See cases	GUncertain significance
Select item 442788	GRCh37/hg19 11q24.2-25(chr11:126762944-134938470)x1	ACAD8, ADAMTS15 +32 more	Copy number loss	See cases	GPathogenic
Select item 442570	GRCh37/hg19 11q24.3-25(chr11:129721809-134938470)x1	ACAD8, ADAMTS15 +22 more	Copy number loss	See cases	GPathogenic
Select item 442287	GRCh37/hg19 11q25(chr11:131426397-134938470)x1	ACAD8, B3GAT1 +12 more	Copy number loss	See cases	GPathogenic
Select item 442155	GRCh37/hg19 11q23.3-25(chr11:121136603-134938470)x1	ACAD8, ACRV1 +105 more	Copy number loss	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	EMSY, ENDOD1 +1289 more	Copy number gain	See cases	GPathogenic

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