"Department of Clinical Genetics, Copenhagen University Hospital, Rigs - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1394504	NM_007255.3(B4GALT7):c.639+5G>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +1 more	GUncertain significance
Select item 1679331	NM_007255.3(B4GALT7):c.685G>A (p.Asp229Asn)	B4GALT7 (D229N)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +1 more	GUncertain significance