B4GALT4[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	AMOTL2, DNAJC13 +1343 more	Copy number gain	See cases	GPathogenic
Select item 57803	GRCh38/hg38 3q11.1-21.1(chr3:93886671-123216683)x1	ALCAM, BTLA +637 more	Copy number loss	See cases	GPathogenic
Select item 2579175	GRCh38/hg38 3q11.1-21.2(chr3:93979547-124774010)x1	ABHD10, ABI3BP +681 more	Copy number loss	Chromosome 3q13.31 deletion syndrome	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 154658	GRCh38/hg38 3q13.2-13.33(chr3:112520553-120031022)x1	USF3, ZBTB20 +190 more	Copy number loss	See cases	GPathogenic
Select item 150138	GRCh38/hg38 3q13.2-21.3(chr3:112620977-128734134)x1	LOC129937351, LOC129937424 +570 more	Copy number loss	See cases	GPathogenic
Select item 153722	GRCh38/hg38 3q13.31-21.2(chr3:114122562-124532374)x1	ADCY5, ADPRH +286 more	Copy number loss	See cases	GPathogenic
Select item 146711	GRCh38/hg38 3q13.31-21.1(chr3:115019074-122513398)x1	ADPRH, ARGFX +199 more	Copy number loss	See cases	GPathogenic
Select item 154810	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120826621)x4	ADPRH, ARHGAP31 +101 more	Copy number gain	See cases	GUncertain significance
Select item 146286	GRCh38/hg38 3q13.32-13.33(chr3:117844958-120797026)x4	LRRC58-DT, MIR198 +100 more	Copy number gain	See cases	GUncertain significance
Select item 155628	GRCh38/hg38 3q13.32-21.3(chr3:118673898-126540730)x1	GOLGB1, LOC129389118 +326 more	Copy number loss	See cases	GPathogenic
Select item 57806	GRCh38/hg38 3q13.32-21.2(chr3:119117166-125920734)x1	LOC126806792, LOC126806793 +291 more	Copy number loss	See cases	GPathogenic
Select item 2550266	NM_003778.4(B4GALT4):c.953G>A (p.Ser318Asn)	B4GALT4 (S318N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240559	NM_003778.4(B4GALT4):c.638A>G (p.Lys213Arg)	B4GALT4 (K213R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2546988	NM_003778.4(B4GALT4):c.602A>G (p.Asn201Ser)	B4GALT4 (N201S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529333	NM_003778.4(B4GALT4):c.596C>T (p.Pro199Leu)	B4GALT4 (P199L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2593171	NM_003778.4(B4GALT4):c.200C>T (p.Ala67Val)	B4GALT4, B4GALT4-AS1 (A67V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2685930	GRCh37/hg19 3q13.32-13.33(chr3:118192230-119100216)x3	ARHGAP31, B4GALT4 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1808592	GRCh37/hg19 3q13.31-13.33(chr3:116109191-120328013)x1	ADPRH, ARHGAP31 +20 more	Copy number loss	not provided	GUncertain significance
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 980051	GRCh37/hg19 3q13.32(chr3:118733449-118963249)x4	TEX55, B4GALT4 +2 more	Copy number gain	not provided	GUncertain significance
Select item 562809	GRCh37/hg19 3q13.31-21.1(chr3:115518341-122129283)x1	HCLS1, ARGFX +38 more	Copy number loss	not provided	GPathogenic
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

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Items: 24