"Natera, Inc."[submitter] AND "LOC130001683"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 495672	NM_000155.4(GALT):c.172G>A (p.Glu58Lys)	GALT, LOC130001683 (E58K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 25136	NM_000155.4(GALT):c.197C>T (p.Pro66Leu)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 25137	NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 36143	NM_000155.4(GALT):c.203A>C (p.His68Pro)	LOC130001683, GALT (H68P +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 495673	NM_000155.4(GALT):c.211C>G (p.Leu71Val)	LOC130001683, GALT (L71V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3615	NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	GALT, LOC130001683 (L74P +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 813466	NM_000155.4(GALT):c.252+1G>A	GALT, LOC130001683	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic

ClinVar