C0268151[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 25136	NM_000155.4(GALT):c.197C>T (p.Pro66Leu)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1726958	NM_000155.4(GALT):c.209del (p.Pro70fs)	GALT, LOC130001683 (L3fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1724396	NM_000155.4(GALT):c.231_233delinsT (p.Ala78fs)	GALT, LOC130001683 (A78fs +1 more)	Indel (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25142	NM_000155.4(GALT):c.253-2A>G	GALT	Single nucleotide variant (splice acceptor variant +1 more)	not provided +2 more	GPathogenic
Select item 25149	NM_000155.4(GALT):c.292G>C (p.Asp98His)	GALT	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
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)	See cases +3 more	GPathogenic/Likely pathogenic
Select item 1726650	NM_000155.4(GALT):c.412del (p.Thr138fs)	GALT (T138fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely 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 1725399	NM_000155.4(GALT):c.468_469delinsT (p.Val157fs)	GALT (V157fs +1 more)	Indel (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3616	NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	GALT (F171S +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 983982	NM_000155.4(GALT):c.514G>T (p.Glu172Ter)	GALT (E172* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 983983	NM_000155.4(GALT):c.561C>A (p.Cys187Ter)	GALT (C187* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	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 25222	NM_000155.4(GALT):c.584T>C (p.Leu195Pro)	GALT (L86P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1725329	NM_000155.4(GALT):c.615_616del (p.Gln206fs)	GALT (Q206fs +1 more)	Microsatellite (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
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 1724794	NM_000155.4(GALT):c.645_646insGAGT (p.Pro216fs)	GALT (P107fs +1 more)	Insertion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1724719	NM_000155.4(GALT):c.652_653del (p.Leu218fs)	GALT (L109fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1724242	NM_000155.4(GALT):c.669_670del (p.Gln224fs)	GALT (Q115fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 983984	NM_000155.4(GALT):c.670C>T (p.Gln224Ter)	GALT (Q115* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1726510	NM_000155.4(GALT):c.680_681del (p.Leu227fs)	GALT (L118fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25247	NM_000155.4(GALT):c.692G>A (p.Arg231His)	GALT (R122H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 983985	NM_000155.4(GALT):c.737G>A (p.Trp246Ter)	GALT (W137* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 1724312	NM_000155.4(GALT):c.754del (p.Gln252fs)	GALT (Q143fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 189191	NM_000155.4(GALT):c.775C>T (p.Arg259Trp)	GALT (R259W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 983986	NM_000155.4(GALT):c.796G>T (p.Glu266Ter)	GALT (E157* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 1724195	NM_000155.4(GALT):c.849_850del (p.Leu283fs)	GALT (L174fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 983987	NM_000155.4(GALT):c.853A>T (p.Lys285Ter)	GALT (K176* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
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 983988	NM_000155.4(GALT):c.888C>A (p.Tyr296Ter)	GALT (Y187* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25320	NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	GALT (Q344K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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: 33