"Genome-Nilou Lab"[submitter] AND "GALT"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1210412	NM_000155.4(GALT):c.68C>A (p.Thr23Asn)	GALT (T23N)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25166	NM_000155.4(GALT):c.378-27G>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GBenign
Select item 25192	NM_000155.4(GALT):c.507+62G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GBenign
Select item 25195	NM_000155.4(GALT):c.508-24G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GBenign
Select item 25233	NM_000155.4(GALT):c.630G>A (p.Lys210=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 39372	NM_000155.4(GALT):c.652C>T (p.Leu218=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GBenign; other
Select item 3613	NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	Galactosemia +2 more	GConflicting classifications of pathogenicity; other

ClinVar