"Fulgent Genetics, Fulgent Genetics"[submitter] AND "GALT"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 557086	NM_000155.4(GALT):c.203A>G (p.His68Arg)	GALT, LOC130001683 (H68R +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25148	NM_000155.4(GALT):c.292G>A (p.Asp98Asn)	GALT	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3618	NM_000155.4(GALT):c.404C>T (p.Ser135Leu)	GALT (S135L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 25174	NM_000155.4(GALT):c.413C>T (p.Thr138Met)	GALT (T29M)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 3609	NM_000155.4(GALT):c.425T>A (p.Met142Lys)	GALT (M142K +1 more)	Single nucleotide variant (missense variant)	GALT-related disorder +2 more	GPathogenic
Select item 92517	NM_000155.4(GALT):c.508-1G>C	GALT	Single nucleotide variant (splice acceptor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +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)	Inborn genetic diseases +3 more	GPathogenic
Select item 25222	NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	GALT (L86P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 198395	NM_000155.4(GALT):c.611G>A (p.Arg204Gln)	GALT (R204Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 25231	NM_000155.4(GALT):c.626A>G (p.Tyr209Cys)	GALT (Y100C)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
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 189191	NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	GALT (R259W +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1622548	NM_000155.4(GALT):c.777G>A (p.Arg259=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
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 36158	NM_000155.4(GALT):c.876G>A (p.Thr292=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 38554	NM_000155.4(GALT):c.904+1G>T	GALT	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 36160	NM_000155.4(GALT):c.945T>C (p.His315=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 3610	NM_000155.4(GALT):c.997C>T (p.Arg333Trp)	GALT (R333W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1505795	NM_000155.4(GALT):c.1034C>A (p.Ala345Asp)	GALT (A236D)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25334	NM_000155.4(GALT):c.1132A>G (p.Ile378Val)	GALT (I269V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance

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Items: 20