B3GALNT1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 155049	GRCh38/hg38 3q25.33-26.1(chr3:160951779-161441991)x1	B3GALNT1, LINC02067 +11 more	Copy number loss	See cases	GUncertain significance
Select item 6635	NM_003781.4(B3GALNT1):c.811G>A (p.Gly271Arg)	B3GALNT1 (G271R +1 more)	Single nucleotide variant (missense variant)	p phenotype	GAffects
Select item 6636	NM_003781.4(B3GALNT1):c.797A>C (p.Glu266Ala)	B3GALNT1 (E266A +1 more)	Single nucleotide variant (missense variant)	p phenotype	GAffects
Select item 2348858	NM_003781.4(B3GALNT1):c.772G>C (p.Gly258Arg)	B3GALNT1 (G258R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348656	NM_003781.4(B3GALNT1):c.702C>G (p.Phe234Leu)	B3GALNT1 (F234L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262161	NM_003781.4(B3GALNT1):c.665C>A (p.Thr222Asn)	B3GALNT1 (T222N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2262016	NM_003781.4(B3GALNT1):c.571G>A (p.Val191Met)	B3GALNT1 (V311M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6634	NM_003781.4(B3GALNT1):c.537dup (p.Asp180fs)	B3GALNT1 (D180fs +1 more)	Duplication (frameshift variant)	p phenotype	GAffects
Select item 2602674	NM_003781.4(B3GALNT1):c.416T>G (p.Leu139Arg)	B3GALNT1 (L259R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225260	NM_003781.4(B3GALNT1):c.223C>T (p.His75Tyr)	B3GALNT1 (H75Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 6633	NM_003781.4(B3GALNT1):c.202C>T (p.Arg68Ter)	B3GALNT1 (R188* +1 more)	Single nucleotide variant (nonsense)	p phenotype	GAffects
Select item 2569324	NM_003781.4(B3GALNT1):c.197C>T (p.Thr66Ile)	B3GALNT1 (T186I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316034	NM_003781.4(B3GALNT1):c.62G>T (p.Ser21Ile)	B3GALNT1 (S141I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3037666	NM_003781.4(B3GALNT1):c.-27G>A	B3GALNT1 (G112S)	Single nucleotide variant (5 prime UTR variant +1 more)	B3GALNT1-related condition	GBenign
Select item 3039696	NM_003781.4(B3GALNT1):c.-34-3259G>T	B3GALNT1 (A75S)	Single nucleotide variant (5 prime UTR variant +2 more)	B3GALNT1-related condition	GLikely benign
Select item 3038134	NM_003781.4(B3GALNT1):c.-34-3271T>A	B3GALNT1 (C71S)	Single nucleotide variant (5 prime UTR variant +2 more)	B3GALNT1-related condition	GBenign
Select item 3038902	NM_003781.4(B3GALNT1):c.-109C>T	B3GALNT1 (R45W)	Single nucleotide variant (5 prime UTR variant +2 more)	B3GALNT1-related condition	GLikely benign
Select item 3051165	NM_003781.4(B3GALNT1):c.-206T>G	B3GALNT1 (D12E)	Single nucleotide variant (5 prime UTR variant +1 more)	B3GALNT1-related condition	GLikely benign
Select item 3058378	NM_003781.4(B3GALNT1):c.-220-9_-220-7del	B3GALNT1	Microsatellite (intron variant)	B3GALNT1-related condition	GLikely benign
Select item 3035261	NM_003781.4(B3GALNT1):c.-237T>G	B3GALNT1 (F3C)	Single nucleotide variant (5 prime UTR variant +1 more)	B3GALNT1-related condition	GLikely benign
Select item 3062742	GRCh37/hg19 3q26.1(chr3:160702083-161262537)x3	SPTSSB, B3GALNT1 +3 more	Copy number gain	not specified	GUncertain significance
Select item 2671595	Single allele	AADAC, AADACL2 +286 more	Duplication	not provided	GPathogenic
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1527050	GRCh37/hg19 3q25.32-26.33(chr3:157128738-181637333)	ACTL6A, ACTRT3 +79 more	Copy number gain	not specified	GPathogenic
Select item 1328449	GRCh37/hg19 3q24-26.1(chr3:143439359-165252122)x1	AADAC, AADACL2 +83 more	Copy number loss	not provided	GPathogenic
Select item 1047879	GRCh37/hg19 3q22.3-26.1(chr3:138173683-162494699)	CHST2, CLRN1 +115 more	Copy number gain	Global developmental delay	GPathogenic
Select item 980546	GRCh37/hg19 3q25.33-26.1(chr3:160488346-161322790)x1	SPTSSB, B3GALNT1 +3 more	Copy number loss	not provided	GUncertain significance
Select item 929388	GRCh37/hg19 3q22.3-26.1(chr3:138145289-162275610)x3	AADAC, AADACL2 +115 more	Copy number gain	See cases	GPathogenic
Select item 635957	Single allele	IL12A, IQCJ +10 more	Duplication	Growth abnormality	GUncertain significance
Select item 562835	GRCh37/hg19 3q25.33-26.1(chr3:160696866-161262537)x3	NMD3, B3GALNT1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	FBXL2, FBXO40 +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 393885	GRCh37/hg19 3q25.32-29(chr3:158980631-197766890)x3	ABCC5, ABCF3 +198 more	Copy number gain	See cases	GPathogenic
Select item 254009	GRCh37/hg19 3q26.1(chr3:160727290-161223046)x3	NMD3, SPTSSB +3 more	Copy number gain	See cases	GUncertain significance
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	PTX3, MIR1224 +220 more	Copy number gain	See cases	GPathogenic

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Items: 43