"Counsyl"[submitter] AND "LOC130001683"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25125	NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 555536	NM_000155.4(GALT):c.132del (p.Ser45fs)	GALT, LOC130001683 (S45fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 35522	NM_000155.4(GALT):c.152G>A (p.Arg51Gln)	GALT, LOC130001683 (R51Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 556774	NM_000155.4(GALT):c.157T>C (p.Trp53Arg)	GALT, LOC130001683 (W53R)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 557088	NM_000155.4(GALT):c.164del (p.Gly55fs)	GALT, LOC130001683 (G55fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 555377	NM_000155.4(GALT):c.180del (p.Gln60fs)	GALT, LOC130001683 (Q60fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 553807	NM_000155.4(GALT):c.189dup (p.Thr64fs)	GALT, LOC130001683 (T64fs)	Duplication (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 203733	NM_000155.4(GALT):c.200G>A (p.Arg67His)	GALT, LOC130001683 (R67H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 25140	NM_000155.4(GALT):c.238C>T (p.Arg80Ter)	GALT, LOC130001683 (R80*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 38280	NM_000155.4(GALT):c.247G>A (p.Gly83Arg)	LOC130001683, GALT (G83R)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance