"B3GALNT1-related condition"[Disease/phenotype] AND "PreventionGenetic - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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

ClinVar