GALT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 154945	GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3	CDKN2B, CDKN2B-AS1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 146931	GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3	LOC130001680, LOC130001681 +1062 more	Copy number gain	See cases	GPathogenic
Select item 146703	GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3	LOC124210611, LOC124210612 +1120 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 more	Copy number gain	See cases	GPathogenic
Select item 153561	GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4	LOC130001854, LOC130001855 +1367 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 more	Copy number gain	See cases	GPathogenic
Select item 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 more	Copy number gain	See cases	GPathogenic
Select item 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 more	Copy number gain	See cases	GPathogenic
Select item 160921	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ACER2, ACO1 +899 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 32288	GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3	ANKRD18B, APTX +899 more	Copy number gain	See cases	GPathogenic
Select item 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 more	Copy number gain	See cases	GPathogenic
Select item 148673	GRCh38/hg38 9p24.1-13.2(chr9:7162304-37038771)x3	ACER2, ACO1 +586 more	Copy number gain	See cases	GPathogenic
Select item 151755	GRCh38/hg38 9p22.2-q21.11(chr9:18344605-68257015)	ACER2, ACO1 +691 more	Copy number gain	See cases	GPathogenic
Select item 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
Select item 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 more	Copy number gain	See cases	GPathogenic
Select item 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 more	Copy number gain	See cases	GPathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 145374	GRCh38/hg38 9p13.3-13.2(chr9:33572681-36782015)x1	PTENP1-AS, RECK +211 more	Copy number loss	See cases	GPathogenic
Select item 101049	NC_000009.11:g.(34644527_34645701)_(34650746_34653247)del	GALT, IL11RA +4 more	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 583788	NC_000009.11:g.(?_34645556)_(36277059_?)dup	CCIN, SPATA31F1 +138 more	Duplication	Anauxetic dysplasia	GUncertain significance
Select item 459626	NC_000009.12:g.(?_34645559)_(34651238_?)del	GALT, LOC130001682 +1 more	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1064540	NM_000155.2(GALT):c.-1039_753del	GALT, LOC130001682 +1 more	Deletion	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 242644	NM_000155.2(GALT):c.[-1039_753del;820+50_*789delinsGAATAGACCCCA]	GALT, LOC130001682 +1 more	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1677034	NM_000155.3(GALT):c.-1005_-1004dupTT	GALT	Duplication	not specified	GBenign
Select item 1331423	NM_000155.3(GALT):c.-1004dupT	GALT	Duplication	not specified	GBenign
Select item 1698652	NM_000155.3(GALT):c.-1004delT	GALT	Deletion	not specified	GBenign
Select item 1677032	NM_000155.3(GALT):c.-842_-837dupTTTTTT	GALT	Duplication	not specified	GBenign
Select item 1343439	NM_000155.3(GALT):c.-843_-837dupTTTTTTT	GALT	Duplication	not specified	GBenign
Select item 1331458	NM_000155.3(GALT):c.-837dupT	GALT	Duplication	not specified	GBenign
Select item 1331426	NM_000155.3(GALT):c.-840_-837dupTTTT	GALT	Duplication	not specified	GBenign
Select item 1331424	NM_000155.3(GALT):c.-839_-837dupTTT	GALT	Duplication	not specified	GBenign
Select item 1331422	NM_000155.3(GALT):c.-841_-837dupTTTTT	GALT	Duplication	not specified	GBenign
Select item 1331397	NM_000155.3(GALT):c.-838_-837dupTT	GALT	Duplication	not specified	GBenign
Select item 1677053	NM_000155.3(GALT):c.-839_-837delTTT	GALT	Deletion	not specified	GUncertain significance
Select item 1331425	NM_000155.3(GALT):c.-837delT	GALT	Deletion	not specified	GBenign
Select item 1698645	NM_000155.3(GALT):c.-739C>T	GALT	Single nucleotide variant	not specified	GUncertain significance
Select item 1331459	NM_000155.3(GALT):c.-631_-630delAG	GALT	Microsatellite	not specified	GBenign
Select item 1677033	NM_000155.3(GALT):c.-392A>T	GALT	Single nucleotide variant	not specified	GUncertain significance
Select item 1196736	NC_000009.12:g.34646343G>T	GALT	Single nucleotide variant	not provided	GLikely benign
Select item 1677166	NM_000155.3(GALT):c.-179C>T	GALT, LOC130001682	Single nucleotide variant	not specified	GUncertain significance
Select item 558031	NM_000155.3(GALT):c.-130_-129insCAGT	GALT	Microsatellite	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 25111	NM_000155.4(GALT):c.-119_-116delGTCA	GALT	Microsatellite	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity; other
Select item 1918382	NC_000009.12:g.34646581A>C	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 929184	NC_000009.12:g.34646584C>G	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 529227	NC_000009.12:g.(?_34646586)_(34651238_?)del	GALT, LOC130001683	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 642055	NC_000009.12:g.(?_34646609)_(34650459_?)del	GALT, LOC130001683	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 555856	NM_000155.4(GALT):c.-96T>G	GALT	Single nucleotide variant	not specified +1 more	GUncertain significance
Select item 913654	NM_000155.3(GALT):c.-88G>A	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 366696	NM_000155.3(GALT):c.-38G>A	GALT	Single nucleotide variant	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 991659	NM_000155.4(GALT):c.-11C>A	GALT	Single nucleotide variant (5 prime UTR variant)	Galactosemia	GUncertain significance
Select item 2979207	NM_000155.4(GALT):c.1A>C (p.Met1Leu)	GALT (M1L)	Single nucleotide variant (missense variant +2 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 25112	NM_000155.4(GALT):c.1A>G (p.Met1Val)	GALT	Single nucleotide variant (missense variant +2 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 813464	NM_000155.4(GALT):c.2T>G (p.Met1Arg)	GALT (M1R)	Single nucleotide variant (missense variant +2 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 802479	NM_000155.4(GALT):c.2T>C (p.Met1Thr)	GALT (M1T)	Single nucleotide variant (missense variant +2 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 1145631	NM_000155.4(GALT):c.6G>A (p.Ser2=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
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 1666113	NM_000155.4(GALT):c.15A>G (p.Gly5=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
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 1917460	NM_000155.4(GALT):c.18C>G (p.Thr6=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1153252	NM_000155.4(GALT):c.18C>T (p.Thr6=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1353372	NM_000155.4(GALT):c.19G>T (p.Asp7Tyr)	GALT (D7Y)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 2675833	NM_000155.4(GALT):c.20del (p.Asp7fs)	GALT (D7fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2420570	NM_000155.4(GALT):c.24T>G (p.Pro8=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
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 3241673	NM_000155.4(GALT):c.28C>T (p.Gln10Ter)	GALT (Q10*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 813465	NM_000155.4(GALT):c.29_48delinsGACC (p.Gln10fs)	GALT (Q10fs)	Indel (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1953620	NM_000155.4(GALT):c.30A>G (p.Gln10=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2127722	NM_000155.4(GALT):c.31C>G (p.Arg11Gly)	GALT (R11G)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 566450	NM_000155.4(GALT):c.32G>A (p.Arg11His)	GALT (R11H)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GUncertain significance
Select item 2765542	NM_000155.4(GALT):c.36G>A (p.Gln12=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2675827	NM_000155.4(GALT):c.37C>T (p.Gln13Ter)	GALT (Q13*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2421820	NM_000155.4(GALT):c.40G>A (p.Ala14Thr)	GALT (A14T)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 1355405	NM_000155.4(GALT):c.40_41insT (p.Ala14fs)	GALT (A14fs)	Insertion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
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 1129465	NM_000155.4(GALT):c.44C>T (p.Ser15Leu)	GALT (S15L)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2158711	NM_000155.4(GALT):c.45A>T (p.Ser15=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1633262	NM_000155.4(GALT):c.45A>G (p.Ser15=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2090319	NM_000155.4(GALT):c.48G>A (p.Glu16=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2188692	NM_000155.4(GALT):c.51G>C (p.Ala17=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
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 1624331	NM_000155.4(GALT):c.57C>T (p.Ala19=)	GALT	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1210412	NM_000155.4(GALT):c.68C>A (p.Thr23Asn)	GALT (T23N)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 280965	NM_000155.4(GALT):c.71_72insA (p.Phe24fs)	GALT (F24fs)	Insertion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 281082	NM_000155.4(GALT):c.74G>C (p.Arg25Pro)	GALT (R25P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 37355	NM_000155.4(GALT):c.82G>A (p.Asp28Asn)	GALT (D28N)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 2030188	NM_000155.4(GALT):c.82+2T>G	GALT	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 193055	NM_000155.4(GALT):c.82+2del	GALT	Deletion (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GPathogenic/Likely pathogenic
Select item 1091443	NM_000155.4(GALT):c.82+8C>A	GALT	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign

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