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

Search results

Items: 96

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558031	NM_000155.3(GALT):c.-130_-129insCAGT	GALT	Microsatellite	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 555856	NM_000155.4(GALT):c.-96T>G	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 550228	NM_000155.4(GALT):c.14_23dup (p.Gln9fs)	GALT (Q9fs)	Duplication (5 prime UTR variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25113	NM_000155.4(GALT):c.18del (p.Asp7fs)	GALT (D7fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25114	NM_000155.4(GALT):c.25C>T (p.Gln9Ter)	GALT (Q9*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25115	NM_000155.4(GALT):c.27G>C (p.Gln9His)	GALT	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25117	NM_000155.4(GALT):c.41delinsTT (p.Ala14fs)	GALT (A14fs)	Indel (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +2 more	GPathogenic/Likely pathogenic
Select item 371619	NM_000155.4(GALT):c.83-2A>G	GALT	Single nucleotide variant (splice acceptor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
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
Select item 498560	NM_000155.4(GALT):c.307C>T (p.Gln103Ter)	GALT (Q103*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
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 555565	NM_000155.4(GALT):c.336T>G (p.Ser112Arg)	GALT (S112R)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 554776	NM_000155.4(GALT):c.346C>A (p.Leu116Ile)	GALT (L116I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 551158	NM_000155.4(GALT):c.378-2A>T	GALT	Single nucleotide variant (splice acceptor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25167	NM_000155.4(GALT):c.379A>G (p.Lys127Glu)	GALT (K127E +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25168	NM_000155.4(GALT):c.389G>A (p.Cys130Tyr)	GALT (C21Y)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 37357	NM_000155.4(GALT):c.394C>T (p.His132Tyr)	GALT (H132Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25172	NM_000155.4(GALT):c.404C>G (p.Ser135Trp)	GALT (S26W)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	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 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 366697	NM_000155.4(GALT):c.450T>A (p.Val150=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 25180	NM_000155.4(GALT):c.452T>C (p.Val151Ala)	GALT (V42A)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25187	NM_000155.4(GALT):c.496C>G (p.Pro166Ala)	GALT (P57A)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 371128	NM_000155.4(GALT):c.502G>A (p.Val168Met)	GALT (V168M +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 25189	NM_000155.4(GALT):c.502G>T (p.Val168Leu)	GALT (V59L)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 555849	NM_000155.4(GALT):c.507+10G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25194	NM_000155.4(GALT):c.508-29del	GALT	Deletion (intron variant)	GALT-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 553723	NM_000155.4(GALT):c.513dup (p.Glu172Ter)	GALT (E63* +1 more)	Duplication (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 558390	NM_000155.4(GALT):c.527C>T (p.Ala176Val)	GALT (A176V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 3619	NM_000155.4(GALT):c.547C>A (p.Pro183Thr)	GALT (P183T +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
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 25213	NM_000155.4(GALT):c.554C>T (p.Pro185Leu)	GALT (P76L)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 554783	NM_000155.4(GALT):c.561_564+9del	GALT	Deletion (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 557473	NM_000155.4(GALT):c.564+1G>T	GALT	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
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 25218	NM_000155.4(GALT):c.565-2A>G	GALT	Single nucleotide variant (splice acceptor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 550862	NM_000155.4(GALT):c.572C>A (p.Ala191Asp)	GALT (A191D +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 556007	NM_000155.4(GALT):c.590A>G (p.Asp197Gly)	GALT (D197G +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 25227	NM_000155.4(GALT):c.602G>A (p.Arg201His)	GALT (R92H)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +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 557190	NM_000155.4(GALT):c.616C>T (p.Gln206Ter)	GALT (Q206* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
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 370724	NM_000155.4(GALT):c.627T>A (p.Tyr209Ter)	GALT (Y209* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	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 25239	NM_000155.4(GALT):c.652C>G (p.Leu218Val)	GALT (L109V)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 25237	NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)	GALT	Deletion (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	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 37351	NM_000155.4(GALT):c.676C>G (p.Leu226Val)	GALT (L226V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 556595	NM_000155.4(GALT):c.687G>A (p.Lys229=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
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 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 280989	NM_000155.4(GALT):c.776G>A (p.Arg259Gln)	GALT (R259Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 554966	NM_000155.4(GALT):c.788G>A (p.Arg263Gln)	GALT (R263Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 550184	NM_000155.4(GALT):c.814C>T (p.Arg272Cys)	GALT (R272C +1 more)	Single nucleotide variant (missense variant)	GALT-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 38277	NM_000155.4(GALT):c.815G>A (p.Arg272His)	GALT (R272H +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 25271	NM_000155.4(GALT):c.821-46G>T	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 38486	NM_000155.4(GALT):c.857A>G (p.Tyr286Cys)	GALT (Y286C +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
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 370932	NM_000155.4(GALT):c.912dup (p.Thr305fs)	GALT (T305fs +1 more)	Duplication (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 551291	NM_000155.4(GALT):c.938G>A (p.Trp313Ter)	GALT (W313* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
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 25291	NM_000155.4(GALT):c.947G>A (p.Trp316Ter)	GALT (W316* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
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 25297	NM_000155.4(GALT):c.957C>T (p.His319=)	GALT	Single nucleotide variant (synonymous variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
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 25298	NM_000155.4(GALT):c.958G>A (p.Ala320Thr)	GALT (A211T)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
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 25303	NM_000155.4(GALT):c.970C>T (p.Pro324Ser)	GALT (P215S)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 558553	NM_000155.4(GALT):c.979_986del (p.Leu327fs)	GALT (L327fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely 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 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 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 370881	NM_000155.4(GALT):c.1048del (p.Thr350fs)	GALT (T350fs +1 more)	Deletion (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 193559	NM_000155.4(GALT):c.1052del (p.Pro351fs)	GALT (P242fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 25325	NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)	GALT (Q353* +1 more)	Single nucleotide variant (nonsense)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 557568	NM_000155.4(GALT):c.1059+1G>T	GALT	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 25326	NM_000155.4(GALT):c.1059+24G>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 25329	NM_000155.4(GALT):c.1060-1G>A	GALT	Single nucleotide variant (splice acceptor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 25336	NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)	GALT	Single nucleotide variant (stop lost)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic

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Items: 96