ClinVar for MedGen (Select 373020) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250476	NM_080605.4(B3GALT6):c.1A>C (p.Met1Leu)	B3GALT6 (M1L)	Single nucleotide variant (missense variant +1 more)	Al-Gazali syndrome +2 more	GPathogenic
Select item 1691282	NM_080605.4(B3GALT6):c.749C>T (p.Ala250Val)	B3GALT6 (A250V)	Single nucleotide variant (missense variant)	Al-Gazali syndrome +2 more	GUncertain significance
Select item 1419814	NM_080605.4(B3GALT6):c.148C>G (p.Pro50Ala)	B3GALT6 (P50A)	Single nucleotide variant (missense variant)	Spondyloepimetaphyseal dysplasia with joint laxity +3 more	GUncertain significance
Select item 1323966	NM_080605.4(B3GALT6):c.901_904dup (p.Arg302fs)	B3GALT6 (R302fs)	Duplication (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1208606	NM_080605.4(B3GALT6):c.895C>A (p.Leu299Met)	B3GALT6 (L299M)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +4 more	GUncertain significance
Select item 869985	NM_080605.4(B3GALT6):c.618C>G (p.Cys206Trp)	B3GALT6 (C206W)	Single nucleotide variant (missense variant)	Al-Gazali syndrome	GPathogenic
Select item 869983	NM_080605.4(B3GALT6):c.476C>A (p.Ser159Tyr)	B3GALT6 (S159Y)	Single nucleotide variant (missense variant)	Al-Gazali syndrome	GPathogenic
Select item 838573	NM_080605.4(B3GALT6):c.795A>C (p.Glu265Asp)	B3GALT6 (E265D)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more	GUncertain significance
Select item 429685	NM_080605.4(B3GALT6):c.17G>A (p.Arg6Gln)	B3GALT6 (R6Q)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 427130	NM_080605.4(B3GALT6):c.588dup (p.Arg197fs)	B3GALT6 (R197fs)	Duplication (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity