Related gene-specific medical variations for Gene (Select 126792) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361286	NM_080605.4(B3GALT6):c.425G>A (p.Trp142Ter)	B3GALT6 (W142*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3255367	NM_080605.4(B3GALT6):c.451T>A (p.Phe151Ile)	B3GALT6 (F151I)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	GUncertain significance
Select item 3065882	NM_080605.4(B3GALT6):c.547T>A (p.Trp183Arg)	B3GALT6 (W183R)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	GUncertain significance
Select item 2582333	NM_080605.4(B3GALT6):c.598G>A (p.Glu200Lys)	B3GALT6 (E200K)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures	GUncertain significance
Select item 806030	NM_080605.4(B3GALT6):c.681C>G (p.Tyr227Ter)	B3GALT6 (Y227*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 424885	NM_080605.4(B3GALT6):c.338A>G (p.Gln113Arg)	B3GALT6 (Q113R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar