ClinVar for MedGen (Select 1646889) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2687897	NM_007255.3(B4GALT7):c.640-12T>A	B4GALT7	Single nucleotide variant (intron variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1	GUncertain significance
Select item 2441874	NM_007255.3(B4GALT7):c.667G>A (p.Gly223Ser)	B4GALT7 (G223S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1	GUncertain significance
Select item 2439463	NM_007255.3(B4GALT7):c.188G>T (p.Gly63Val)	B4GALT7 (G63V)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1	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
Select item 1446770	NM_007255.3(B4GALT7):c.620C>T (p.Ser207Phe)	B4GALT7 (S207F)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +1 more	GUncertain significance
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 1361602	NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)	B4GALT7 (P113S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 632558	NM_007255.3(B4GALT7):c.398A>G (p.Gln133Arg)	B4GALT7 (Q133R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +2 more	GConflicting classifications of pathogenicity
Select item 284046	NM_007255.3(B4GALT7):c.791G>A (p.Arg264Gln)	B4GALT7 (R264Q)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +2 more	GUncertain significance
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 253109	NM_007255.3(B4GALT7):c.277dup (p.His93fs)	B4GALT7 (H93fs)	Duplication (frameshift variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +3 more	GConflicting classifications of pathogenicity
Select item 253108	NM_007255.3(B4GALT7):c.421C>T (p.Arg141Trp)	B4GALT7 (R141W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 197288	NM_007255.3(B4GALT7):c.687C>T (p.Asp229=)	B4GALT7	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 5613	NM_007255.3(B4GALT7):c.808C>T (p.Arg270Cys)	B4GALT7 (R270C)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 1 +3 more	GPathogenic