C0268151[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25143	NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)	GALT	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25146	NM_000155.4(GALT):c.290A>G (p.Asn97Ser)	GALT	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 37357	NM_000155.4(GALT):c.394C>T (p.His132Tyr)	GALT (H132Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 3618	NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	GALT (S135L +1 more)	Single nucleotide variant (missense variant)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 25174	NM_000155.4(GALT):c.413C>T (p.Thr138Met)	GALT (T29M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 37359	NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	GALT (R148W +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
Select item 25203	NM_000155.4(GALT):c.524G>A (p.Gly175Asp)	GALT (G66D)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic/Likely pathogenic
Select item 3614	NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	GALT (Q188R +1 more)	Single nucleotide variant (missense variant)	Galactosemia +4 more	GPathogenic
Select item 25231	NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	GALT (Y100C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2432031	NM_000155.4(GALT):c.748C>T (p.Pro250Ser)	GALT (P141S +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 92522	NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	GALT (R258C +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 3621	NM_000155.4(GALT):c.855G>T (p.Lys285Asn)	GALT (K285N +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 281084	NM_000155.4(GALT):c.875C>T (p.Thr292Met)	GALT (T292M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324452	NM_000155.4(GALT):c.957C>G (p.His319Gln)	GALT (H210Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25305	NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	GALT (P325L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25320	NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	GALT (Q344K +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic