"Mendelics"[submitter] AND "GALT"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25111	NM_000155.2(GALT):c.-119_-116delGTCA	GALT	Microsatellite	not specified +2 more	GConflicting classifications of pathogenicity; other
Select item 802479	NM_000155.4(GALT):c.2T>C (p.Met1Thr)	GALT (M1T)	Single nucleotide variant (missense variant +2 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25125	NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	LOC130001683, GALT	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802480	NM_000155.4(GALT):c.134C>A (p.Ser45Ter)	GALT, LOC130001683 (S45*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1685839	NM_000155.4(GALT):c.142C>A (p.Arg48Ser)	GALT, LOC130001683 (R48S)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 25166	NM_000155.4(GALT):c.378-27G>C	GALT	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 25195	NM_000155.4(GALT):c.508-24G>A	GALT	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3614	NM_000155.4(GALT):c.563A>G (p.Gln188Arg)	GALT (Q188R +1 more)	Single nucleotide variant (missense variant)	GALT-related condition +3 more	GPathogenic
Select item 280989	NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	GALT (R259Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25269	NM_000155.4(GALT):c.820+13A>G	GALT	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 802481	NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)	GALT	Deletion (inframe_deletion)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 203732	NM_000155.4(GALT):c.864C>T (p.Asn288=)	GALT	Single nucleotide variant (synonymous variant)	not specified +2 more	GUncertain significance
Select item 802482	NM_000155.4(GALT):c.895G>A (p.Gly299Ser)	GALT (G299S +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3613	NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	GALT-related condition +3 more	GConflicting classifications of pathogenicity; other
Select item 3623	NM_000155.4(GALT):c.997C>G (p.Arg333Gly)	GALT (R333G +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1685148	NM_000155.4(GALT):c.1060-84_1060-71dup	GALT	Duplication (intron variant)	not specified	GBenign