"GeneDx"[submitter] AND "GALT"[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1196736	NC_000009.12:g.34646343G>T	GALT	Single nucleotide variant	not provided	GLikely benign
Select item 25111	NM_000155.4(GALT):c.-119_-116delGTCA	GALT	Microsatellite	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +3 more	GConflicting classifications of pathogenicity; other
Select item 2430947	NM_000155.4(GALT):c.55G>C (p.Ala19Pro)	GALT (A19P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 430221	NM_000155.4(GALT):c.157T>A (p.Trp53Arg)	GALT, LOC130001683 (W53R)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 25137	NM_000155.4(GALT):c.199C>T (p.Arg67Cys)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 3615	NM_000155.4(GALT):c.221T>C (p.Leu74Pro)	GALT, LOC130001683 (L74P +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely 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 25143	NM_000155.4(GALT):c.265T>G (p.Tyr89Asp)	GALT	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GConflicting classifications of pathogenicity
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 392632	NM_000155.4(GALT):c.299C>G (p.Pro100Arg)	GALT (P100R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25154	NM_000155.4(GALT):c.329-2A>C	GALT	Single nucleotide variant (splice acceptor variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
Select item 390761	NM_000155.4(GALT):c.329G>A (p.Gly110Glu)	GALT (G110E)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 25166	NM_000155.4(GALT):c.378-27G>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GBenign
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 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 37359	NM_000155.4(GALT):c.442C>T (p.Arg148Trp)	GALT (R148W +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
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 25192	NM_000155.4(GALT):c.507+62G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GBenign
Select item 25195	NM_000155.4(GALT):c.508-24G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GBenign
Select item 281074	NM_000155.4(GALT):c.510C>A (p.Ile170=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GConflicting classifications of pathogenicity
Select item 3616	NM_000155.4(GALT):c.512T>C (p.Phe171Ser)	GALT (F171S +1 more)	Single nucleotide variant (missense variant)	Galactosemia +2 more	GPathogenic/Likely pathogenic
Select item 25210	NM_000155.4(GALT):c.552C>A (p.His184Gln)	GALT (H75Q)	Single nucleotide variant (missense 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 284981	NM_000155.4(GALT):c.564+7G>A	GALT	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 25220	NM_000155.4(GALT):c.575G>A (p.Ser192Asn)	GALT (S83N)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
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 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 25246	NM_000155.4(GALT):c.691C>T (p.Arg231Cys)	GALT (R122C)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 92522	NM_000155.4(GALT):c.772C>T (p.Arg258Cys)	GALT (R258C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 459627	NM_000155.3(GALT):c.790_792invCTA (p.Leu264Ter)	GALT (L264* +1 more)	Inversion (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
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 25285	NM_000155.4(GALT):c.883C>A (p.Pro295Thr)	GALT (P186T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280968	NM_000155.4(GALT):c.893T>C (p.Met298Thr)	GALT (M298T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 420114	NM_000155.4(GALT):c.899G>A (p.Trp300Ter)	GALT (W300* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3613	NM_000155.4(GALT):c.940A>G (p.Asn314Asp)	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	Galactosemia +2 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 +2 more	GBenign/Likely benign
Select item 381664	NM_000155.4(GALT):c.982C>T (p.Arg328Cys)	GALT (R328C +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
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 38288	NM_000155.4(GALT):c.998G>A (p.Arg333Gln)	GALT (R333Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25320	NM_000155.4(GALT):c.1030C>A (p.Gln344Lys)	GALT (Q344K +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 253667	GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253633	GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3	ACER2, ACO1 +195 more	Copy number gain	See cases	GPathogenic
Select item 253592	GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4	ACER2, ACO1 +202 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 47