Related gene-specific medical variations for Gene (Select 2530) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2441638	NM_001371533.1(FUT8):c.1691C>T (p.Thr564Met)	FUT8 (T401M +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Congenital disorder of glycosylation with defective fucosylation 1	GUncertain significance
Select item 1527820	GRCh37/hg19 14q23.3(chr14:65810558-66321318)	FUT8	Copy number gain	not specified	GUncertain significance
Select item 1340450	GRCh37/hg19 14q23.3(chr14:65812267-66203014)x1	FUT8	Copy number loss	not provided	GUncertain significance
Select item 980607	GRCh37/hg19 14q23.3(chr14:65998774-66403585)x3	FUT8	Copy number gain	not provided	GLikely benign
Select item 687135	GRCh37/hg19 14q23.3(chr14:66005150-66403417)x3	FUT8	Copy number gain	not provided	GUncertain significance
Select item 685995	GRCh37/hg19 14q23.3(chr14:65996716-66409522)x3	FUT8	Copy number gain	not provided	GUncertain significance

ClinVar