"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 14

	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 1702109	NM_007255.3(B4GALT7):c.174C>G (p.Ala58=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 374581	NM_007255.3(B4GALT7):c.277C>T (p.His93Tyr)	B4GALT7 (H93Y)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 386362	NM_007255.3(B4GALT7):c.297G>T (p.Val99=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome +2 more	GBenign
Select item 682275	NM_007255.3(B4GALT7):c.315C>T (p.Phe105=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type +2 more	GConflicting classifications of pathogenicity
Select item 1361602	NM_007255.3(B4GALT7):c.337C>T (p.Pro113Ser)	B4GALT7 (P113S)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +3 more	GUncertain significance
Select item 1096969	NM_007255.3(B4GALT7):c.517C>T (p.Leu173=)	B4GALT7	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome progeroid type +1 more	GConflicting classifications of pathogenicity
Select item 1702127	NM_007255.3(B4GALT7):c.688G>A (p.Glu230Lys)	B4GALT7 (E230K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome +1 more	GUncertain significance
Select item 1702130	NM_007255.3(B4GALT7):c.757A>G (p.Lys253Glu)	B4GALT7 (K253E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 681794	NM_007255.3(B4GALT7):c.813C>T (p.Ile271=)	B4GALT7	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1702137	NM_007255.3(B4GALT7):c.850G>A (p.Glu284Lys)	B4GALT7 (E284K)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 423723	NM_007255.3(B4GALT7):c.910G>C (p.Gly304Arg)	B4GALT7 (G304R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome progeroid type +2 more	GUncertain significance
Select item 1702143	NM_007255.3(B4GALT7):c.941T>G (p.Leu314Trp)	B4GALT7 (L314W)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance
Select item 1702148	NM_007255.3(B4GALT7):c.967T>A (p.Trp323Arg)	B4GALT7 (W323R)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome	GUncertain significance