ClinVar for Gene (Select 130001683) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385115	NM_000155.4(GALT):c.160C>T (p.Gln54Ter)	GALT, LOC130001683 (Q54*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
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 3339258	NM_000155.4(GALT):c.252+6C>T	GALT, LOC130001683	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3241677	NM_000155.4(GALT):c.252+2T>C	GALT, LOC130001683	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 3064366	NM_000155.4(GALT):c.127_130del (p.Leu43fs)	GALT, LOC130001683 (L43fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2989871	NM_000155.4(GALT):c.252+8T>C	GALT, LOC130001683	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2963491	NM_000155.4(GALT):c.252+13_252+14del	GALT, LOC130001683	Microsatellite (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2816388	NM_000155.4(GALT):c.210T>C (p.Pro70=)	GALT, LOC130001683 (L3P)	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2814797	NM_000155.4(GALT):c.177C>T (p.Pro59=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2775839	NM_000155.4(GALT):c.151C>A (p.Arg51=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2715081	NM_000155.4(GALT):c.252+2T>G	GALT, LOC130001683	Single nucleotide variant (splice donor variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2675828	NM_000155.4(GALT):c.165_174del (p.Gln56fs)	GALT, LOC130001683 (Q56fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 2581482	NM_000155.4(GALT):c.143G>T (p.Arg48Leu)	GALT, LOC130001683 (R48L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2199285	NM_000155.4(GALT):c.252G>A (p.Glu84=)	GALT, LOC130001683 (S17N)	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 2161464	NM_000155.4(GALT):c.210T>A (p.Pro70=)	GALT, LOC130001683 (L3H)	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2136753	NM_000155.4(GALT):c.113A>C (p.Gln38Pro)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 2134035	NM_000155.4(GALT):c.252+7C>T	GALT, LOC130001683	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 2109269	NM_000155.4(GALT):c.194T>C (p.Val65Ala)	GALT, LOC130001683 (V65A)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 1923899	NM_000155.4(GALT):c.173A>T (p.Glu58Val)	GALT, LOC130001683 (E58V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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)	LOC130001683, GALT (A78fs +1 more)	Indel (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 1722333	NM_000155.4(GALT):c.213dup (p.Asn72fs)	GALT, LOC130001683 (N72fs +1 more)	Duplication (frameshift variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 1707453	GRCh38/hg38 9p13.3(chr9:33492358-34725916)x4	ANKRD18B, ARID3C +71 more	Copy number gain	not specified	GUncertain significance
Select item 1685839	NM_000155.4(GALT):c.142C>A (p.Arg48Ser)	GALT, LOC130001683 (R48S)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1671309	NM_000155.4(GALT):c.162G>A (p.Gln54=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1662050	NM_000155.4(GALT):c.216C>T (p.Asn72=)	GALT, LOC130001683 (T5I)	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1613003	NM_000155.4(GALT):c.129G>T (p.Leu43=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1596748	NM_000155.4(GALT):c.141C>T (p.His47=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1470556	NM_000155.4(GALT):c.152G>T (p.Arg51Leu)	GALT, LOC130001683	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic/Likely pathogenic
Select item 1332995	NM_000155.4(GALT):c.200del (p.Arg67fs)	GALT, LOC130001683 (R67fs)	Deletion (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 1331081	NM_000155.4(GALT):c.233C>T (p.Ala78Val)	GALT, LOC130001683 (A78V +1 more)	Single nucleotide variant (missense variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GUncertain significance
Select item 1331063	NM_000155.4(GALT):c.133T>C (p.Ser45Pro)	GALT, LOC130001683 (S45P)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely 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 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 1160943	NM_000155.4(GALT):c.108G>C (p.Pro36=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GLikely benign
Select item 1156311	NM_000155.4(GALT):c.252+9G>A	GALT, LOC130001683	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1153612	NM_000155.4(GALT):c.210T>G (p.Pro70=)	GALT, LOC130001683 (L3R)	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1137880	NM_000155.4(GALT):c.252+10T>C	GALT, LOC130001683	Single nucleotide variant (intron variant)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1136563	NM_000155.4(GALT):c.183T>G (p.Leu61=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1125318	NM_000155.4(GALT):c.174G>A (p.Glu58=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1107193	NM_000155.4(GALT):c.192A>T (p.Thr64=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1098803	NM_000155.4(GALT):c.140A>G (p.His47Arg)	GALT, LOC130001683 (H47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1094456	NM_000155.4(GALT):c.108G>A (p.Pro36=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 1087303	NM_000155.4(GALT):c.153G>A (p.Arg51=)	GALT, LOC130001683	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
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 913655	NM_000155.4(GALT):c.211C>T (p.Leu71Phe)	LOC130001683, GALT (L71F)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	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 802480	NM_000155.4(GALT):c.134C>A (p.Ser45Ter)	GALT, LOC130001683 (S45*)	Single nucleotide variant (nonsense +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 793530	NM_000155.4(GALT):c.231G>A (p.Gly77=)	GALT, LOC130001683 (G10E)	Single nucleotide variant (synonymous variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely benign
Select item 642055	NC_000009.12:g.(?_34646609)_(34650459_?)del	GALT, LOC130001683	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 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 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 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 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 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)	LOC130001683, GALT (T64fs)	Duplication (frameshift variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 529227	NC_000009.12:g.(?_34646586)_(34651238_?)del	GALT, LOC130001683	Deletion	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GPathogenic
Select item 495673	NM_000155.4(GALT):c.211C>G (p.Leu71Val)	GALT, LOC130001683 (L71V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 495672	NM_000155.4(GALT):c.172G>A (p.Glu58Lys)	GALT, LOC130001683 (E58K)	Single nucleotide variant (missense variant +1 more)	not provided	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 430221	NM_000155.4(GALT):c.157T>A (p.Trp53Arg)	GALT, LOC130001683 (W53R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281058	NM_000155.4(GALT):c.142C>T (p.Arg48Cys)	GALT, LOC130001683 (R48C)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GLikely pathogenic
Select item 281008	NM_000155.4(GALT):c.139C>G (p.His47Asp)	GALT, LOC130001683 (H47D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280967	NM_000155.4(GALT):c.232G>A (p.Ala78Thr)	GALT, LOC130001683 (A78T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 280964	NM_000155.4(GALT):c.118G>A (p.Glu40Lys)	LOC130001683, GALT (E40K)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
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 203733	NM_000155.4(GALT):c.200G>A (p.Arg67His)	GALT, LOC130001683 (R67H)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +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 155344	GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642)	LOC130001484, LOC130001485 +883 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 154223	GRCh38/hg38 9p21.1-13.1(chr9:28975663-38787483)x3	ACO1, ALDH1B1 +436 more	Copy number gain	See cases	GLikely pathogenic
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 153185	GRCh38/hg38 9p21.1-q21.11(chr9:31426827-68257015)x3	ACO1, ALDH1B1 +504 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 150341	GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3	LOC130001585, LOC130001586 +984 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 150242	GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3	LOC130001507, LOC130001508 +899 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 148823	GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4	LOC130001746, LOC130001747 +980 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 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 146018	GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3	LOC130001767, LOC130001768 +1006 more	Copy number gain	See cases	GPathogenic
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 144347	GRCh38/hg38 9p13.3-13.1(chr9:33225730-38529813)x3	ALDH1B1, ANKRD18B +360 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 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 59876	GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3	ACER2, ACO1 +894 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 57406	GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3	SPATA31F3, SPATA31G1 +898 more	Copy number gain	See cases	GPathogenic
Select item 38285	NM_000155.4(GALT):c.163G>T (p.Gly55Cys)	GALT, LOC130001683 (G55C)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
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 36143	NM_000155.4(GALT):c.203A>C (p.His68Pro)	GALT, LOC130001683 (H68P +1 more)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase +1 more	GConflicting classifications of pathogenicity
Select item 35522	NM_000155.4(GALT):c.152G>A (p.Arg51Gln)	LOC130001683, GALT (R51Q)	Single nucleotide variant (missense variant +1 more)	Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase	GConflicting classifications of pathogenicity
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic

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