"Illumina Laboratory Services, Illumina"[submitter] AND "B4GALT1"[gene - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 366600	NM_001497.4(B4GALT1):c.*2718G>C	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366608	NM_001497.4(B4GALT1):c.*2398del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366612	NM_001497.4(B4GALT1):c.2200_2203del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366614	NM_001497.4(B4GALT1):c.*2172GTT[1]	B4GALT1	Microsatellite (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366615	NM_001497.4(B4GALT1):c.2172_2176del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366619	NM_001497.4(B4GALT1):c.*1890del	B4GALT1	Deletion (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 366620	NM_001497.4(B4GALT1):c.*1874C>T	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366623	NM_001497.4(B4GALT1):c.*1675dup	B4GALT1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 366631	NM_001497.4(B4GALT1):c.*1087dup	B4GALT1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366638	NM_001497.4(B4GALT1):c.*730AGAA[1]	B4GALT1	Microsatellite (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366639	NM_001497.4(B4GALT1):c.*714G>C	B4GALT1	Single nucleotide variant (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366641	NM_001497.4(B4GALT1):c.*705dup	B4GALT1	Duplication (3 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 366662	NM_001497.4(B4GALT1):c.392C>T (p.Pro131Leu)	B4GALT1 (P131L +1 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +3 more	GUncertain significance