"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "GALT"[gene] - ClinVar

Search results

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1172855	NM_000155.4(GALT):c.155C>G (p.Pro52Arg)	GALT, LOC130001683 (P52R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25136	NM_000155.4(GALT):c.197C>T (p.Pro66Leu)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 495673	NM_000155.4(GALT):c.211C>G (p.Leu71Val)	LOC130001683, GALT (L71V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3381049	NM_000155.4(GALT):c.220C>G (p.Leu74Val)	GALT, LOC130001683 (L74V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely 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 1330596	NM_000155.4(GALT):c.241G>C (p.Ala81Pro)	GALT, LOC130001683 (A81P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 813466	NM_000155.4(GALT):c.252+1G>A	GALT, LOC130001683	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
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 25145	NM_000155.4(GALT):c.285T>G (p.Phe95Leu)	GALT	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 3379859	NM_000155.4(GALT):c.288C>T (p.Asp96=)	GALT	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 25149	NM_000155.4(GALT):c.292G>C (p.Asp98His)	GALT	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 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 3381050	NM_000155.4(GALT):c.368G>C (p.Arg123Pro)	GALT (R123P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2683037	NM_000155.4(GALT):c.371G>T (p.Gly124Val)	GALT (G124V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3379860	NM_000155.4(GALT):c.376T>C (p.Cys126Arg)	GALT (C126R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 25164	NM_000155.4(GALT):c.377+1G>T	GALT	Single nucleotide variant (splice donor variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GPathogenic
Select item 1693994	NM_000155.4(GALT):c.377+3A>G	GALT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2683620	NM_000155.4(GALT):c.382G>A (p.Val128Ile)	GALT (V128I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 36145	NM_000155.4(GALT):c.385A>T (p.Met129Leu)	GALT (M129L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 633233	NM_000155.4(GALT):c.413C>G (p.Thr138Arg)	GALT (T138R +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GConflicting classifications of pathogenicity
Select item 25174	NM_000155.4(GALT):c.413C>T (p.Thr138Met)	GALT (T29M)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 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 37358	NM_000155.4(GALT):c.428C>T (p.Ser143Leu)	GALT (S143L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2683621	NM_000155.4(GALT):c.434_435del (p.Pro145fs)	GALT (P145fs +1 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
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 1163027	NM_000155.4(GALT):c.469G>A (p.Val157Ile)	GALT (V157I +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GUncertain significance
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 2683038	NM_000155.4(GALT):c.519C>G (p.Asn173Lys)	GALT (N173K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 25215	NM_000155.4(GALT):c.564+1G>A	GALT	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 3622	NM_000155.4(GALT):c.607G>A (p.Glu203Lys)	GALT (E203K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 25228	NM_000155.4(GALT):c.610C>T (p.Arg204Ter)	GALT (R204* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25230	NM_000155.4(GALT):c.619C>T (p.Gln207Ter)	GALT (Q207* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
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 25234	NM_000155.4(GALT):c.634C>T (p.Gln212Ter)	GALT (Q212* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 370940	NM_000155.4(GALT):c.670del (p.Gln224fs)	GALT (Q224fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely 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 2180399	NM_000155.4(GALT):c.719_728del (p.Leu240fs)	GALT (L131fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 2683039	NM_000155.4(GALT):c.739G>C (p.Ala247Pro)	GALT (A138P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 25252	NM_000155.4(GALT):c.747G>A (p.Trp249Ter)	GALT (W249* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
Select item 25253	NM_000155.4(GALT):c.752A>G (p.Tyr251Cys)	GALT (Y142C)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 371396	NM_000155.4(GALT):c.761dup (p.Leu255fs)	GALT (L255fs +1 more)	Duplication (frameshift variant)	not provided +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 914056	NM_000155.4(GALT):c.773G>A (p.Arg258His)	GALT (R149H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2683040	NM_000155.4(GALT):c.779A>T (p.His260Leu)	GALT (H151L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1484145	NM_000155.4(GALT):c.787C>T (p.Arg263Trp)	GALT (R263W +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
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 25265	NM_000155.4(GALT):c.793C>G (p.Pro265Ala)	GALT (P156A)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GUncertain significance
Select item 2136758	NM_000155.4(GALT):c.813G>C (p.Glu271Asp)	GALT (E162D +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1693995	NM_000155.4(GALT):c.820+16A>C	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 1693996	NM_000155.4(GALT):c.821-11T>C	GALT	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1693997	NM_000155.4(GALT):c.823C>G (p.Leu275Val)	GALT (L275V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GConflicting classifications of pathogenicity
Select item 3379861	NM_000155.4(GALT):c.829T>C (p.Ser277Pro)	GALT (S168P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 25276	NM_000155.4(GALT):c.844C>G (p.Leu282Val)	GALT (L173V)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	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)	not provided +1 more	GPathogenic
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 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 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 280970	NM_000155.4(GALT):c.902A>G (p.His301Arg)	GALT (H301R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683041	NM_000155.4(GALT):c.907G>T (p.Ala303Ser)	GALT (A194S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 733071	NM_000155.4(GALT):c.919T>A (p.Ser307Thr)	GALT (S307T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 140570	NM_000155.2(GALT):c.[940A>G;-119_-116delGTCA]	GALT (N314D +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 25292	NM_000155.4(GALT):c.948G>A (p.Trp316Ter)	GALT (W316* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic
Select item 3617	NM_000155.4(GALT):c.957C>A (p.His319Gln)	GALT (H319Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25299	NM_000155.4(GALT):c.961C>T (p.His321Tyr)	GALT (H212Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25305	NM_000155.4(GALT):c.974C>T (p.Pro325Leu)	GALT (P325L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 836580	NM_000155.4(GALT):c.976C>T (p.Leu326Phe)	GALT (L217F +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
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 1691431	NM_000155.4(GALT):c.1001A>G (p.Lys334Arg)	GALT (K225R)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25315	NM_000155.4(GALT):c.1006A>T (p.Met336Leu)	GALT (M227L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1691432	NM_000155.4(GALT):c.1014C>T (p.Gly338=)	GALT	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 25316	NM_000155.4(GALT):c.1014C>G (p.Gly338=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 2683042	NM_000155.4(GALT):c.1027G>A (p.Ala343Thr)	GALT (A234T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3381052	NM_000155.4(GALT):c.1046T>G (p.Leu349Arg)	GALT (L240R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 928941	NM_000155.4(GALT):c.1094A>G (p.His365Arg)	GALT (H256R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 735233	NM_000155.4(GALT):c.1135G>A (p.Ala379Thr)	GALT (A270T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2136762	NM_000155.4(GALT):c.1138T>C (p.Ter380Arg)	GALT	Single nucleotide variant (stop lost)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic

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Items: 90