"Illumina Laboratory Services, Illumina"[submitter] AND "GALT"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 913654	NM_000155.3(GALT):c.-88G>A	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 366696	NM_000155.3(GALT):c.-38G>A	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 913655	NM_000155.4(GALT):c.211C>T (p.Leu71Phe)	GALT, LOC130001683 (L71F)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 913656	NM_000155.4(GALT):c.270T>C (p.Asp90=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 913657	NM_000155.4(GALT):c.378-12G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 913658	NM_000155.4(GALT):c.378-7C>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 913659	NM_000155.4(GALT):c.409G>A (p.Val137Ile)	GALT (V28I +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25178	NM_000155.4(GALT):c.443G>A (p.Arg148Gln)	GALT (R39Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 366697	NM_000155.4(GALT):c.450T>A (p.Val150=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 632828	NM_000155.4(GALT):c.507+12C>T	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 281074	NM_000155.4(GALT):c.510C>A (p.Ile170=)	GALT	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2627903	NM_000155.4(GALT):c.535G>C (p.Gly179Arg)	GALT (G179R +1 more)	Single nucleotide variant (missense variant)	Galactosemia	GLikely 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 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 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 366698	NM_000155.4(GALT):c.687+9G>C	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 366699	NM_000155.4(GALT):c.688-4C>T	GALT	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 914056	NM_000155.4(GALT):c.773G>A (p.Arg258His)	GALT (R149H +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 366700	NM_000155.4(GALT):c.843G>A (p.Lys281=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	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)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
Select item 36158	NM_000155.4(GALT):c.876G>A (p.Thr292=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 38553	NM_000155.4(GALT):c.879C>T (p.Ser293=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GBenign/Likely benign
Select item 366701	NM_000155.4(GALT):c.904+2T>G	GALT	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 733071	NM_000155.4(GALT):c.919T>A (p.Ser307Thr)	GALT (S307T +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 914566	NM_000155.4(GALT):c.936C>G (p.Asn312Lys)	GALT (N312K +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 3613	NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +3 more	GConflicting classifications of pathogenicity; other
Select item 36160	NM_000155.4(GALT):c.945T>C (p.His315=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 3617	NM_000155.4(GALT):c.957C>A (p.His319Gln)	GALT (H319Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 632827	NM_000155.4(GALT):c.1128A>T (p.Ala376=)	GALT	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
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
Select item 439751	NM_000155.4(GALT):c.*8G>A	GALT	Single nucleotide variant (3 prime UTR variant)	not specified +1 more	GUncertain significance
Select item 914567	NM_000155.4(GALT):c.*18C>G	GALT	Single nucleotide variant (3 prime UTR variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 912603	NM_000155.4(GALT):c.*96A>C	GALT	Single nucleotide variant (3 prime UTR variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 912604	NM_000155.4(GALT):c.*105A>G	GALT	Single nucleotide variant (3 prime UTR variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 912605	NM_000155.4(GALT):c.*138C>T	GALT	Single nucleotide variant (3 prime UTR variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 366702	NM_000155.4(GALT):c.*147A>G	GALT	Single nucleotide variant (3 prime UTR variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 912606	NM_000155.4(GALT):c.*148T>C	GALT	Single nucleotide variant (3 prime UTR variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign

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Items: 37