"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "B4GALT7"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 282261	NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)	B4GALT7, LOC129995400 (W13*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3379620	NM_007255.3(B4GALT7):c.155G>T (p.Ser52Ile)	B4GALT7 (S52I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 585081	NM_007255.3(B4GALT7):c.185G>A (p.Arg62Lys)	B4GALT7 (R62K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +2 more	GUncertain significance
Select item 3379621	NM_007255.3(B4GALT7):c.208G>A (p.Gly70Ser)	B4GALT7 (G70S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 647607	NM_007255.3(B4GALT7):c.218_219inv (p.Arg73His)	B4GALT7 (R73H)	Inversion (missense variant)	not provided +1 more	GUncertain significance
Select item 450672	NM_007255.3(B4GALT7):c.302T>C (p.Phe101Ser)	B4GALT7 (F101S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1361602	NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)	B4GALT7 (P113S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +3 more	GUncertain significance
Select item 798136	NM_007255.3(B4GALT7):c.697C>T (p.Arg233Trp)	B4GALT7 (R233W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1208774	NM_007255.3(B4GALT7):c.811A>C (p.Ile271Leu)	B4GALT7 (I271L)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +1 more	GUncertain significance