GALM[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	ABCG5, ABCG8 +1631 more	Copy number gain	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	ABCG5, ABCG8 +1400 more	Copy number gain	See cases	GPathogenic
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	LOC126806252, LOC126806253 +2457 more	Copy number gain	See cases	GBenign
Select item 150617	GRCh38/hg38 2p22.2-21(chr2:37000557-41954686)x1	ARHGEF33, ATL2 +154 more	Copy number loss	See cases	GPathogenic
Select item 149818	GRCh38/hg38 2p22.2-22.1(chr2:38105199-38892257)x3	ARHGEF33, ATL2 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1230878	NC_000002.12:g.38665694T>C	GALM	Single nucleotide variant	not provided	GBenign
Select item 1295009	NC_000002.12:g.38665926A>G	GALM	Single nucleotide variant	not provided	GBenign
Select item 1233861	NC_000002.12:g.38666042G>A	GALM	Single nucleotide variant	not provided	GBenign
Select item 3098041	NM_138801.3(GALM):c.5C>T (p.Ala2Val)	GALM (A2V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2326882	NM_138801.3(GALM):c.8C>T (p.Ser3Leu)	GALM (S3L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2401046	NM_138801.3(GALM):c.13A>G (p.Thr5Ala)	GALM (T5A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1955913	NM_138801.3(GALM):c.13A>T (p.Thr5Ser)	GALM (T5S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1450604	NM_138801.3(GALM):c.22G>A (p.Val8Met)	GALM (V8M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1448953	NM_138801.3(GALM):c.29G>C (p.Gly10Ala)	GALM (G10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423840	NM_138801.3(GALM):c.35T>C (p.Leu12Pro)	GALM (L12P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2815653	NM_138801.3(GALM):c.36G>A (p.Leu12=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280513	NM_138801.3(GALM):c.77C>T (p.Ser26Leu)	GALM (S26L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2480366	NM_138801.3(GALM):c.94G>T (p.Asp32Tyr)	GALM (D32Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316523	NM_138801.3(GALM):c.113G>A (p.Cys38Tyr)	GALM (C38Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2793268	NM_138801.3(GALM):c.122C>T (p.Thr41Ile)	GALM (T41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1259664	NM_138801.3(GALM):c.147G>A (p.Gln49=)	GALM	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2722446	NM_138801.3(GALM):c.150G>A (p.Gly50=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2257577	NM_138801.3(GALM):c.164T>C (p.Val55Ala)	GALM (V55A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2971859	NM_138801.3(GALM):c.174C>A (p.Gly58=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1274627	NM_138801.3(GALM):c.190+167A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290378	NM_138801.3(GALM):c.190+184G>A	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179258	NM_138801.3(GALM):c.191-128T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295014	NM_138801.3(GALM):c.191-100G>T	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268639	NM_138801.3(GALM):c.191-32T>A	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096442	NM_138801.3(GALM):c.191-3C>G	GALM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2414354	NM_138801.3(GALM):c.195C>A (p.Tyr65Ter)	GALM (Y65*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2985894	NM_138801.3(GALM):c.238G>A (p.Ala80Thr)	GALM (A80T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2862984	NM_138801.3(GALM):c.244C>G (p.Arg82Gly)	GALM (R82G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 873021	NM_138801.3(GALM):c.244C>T (p.Arg82Ter)	GALM (R82*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1521516	NM_138801.3(GALM):c.245G>A (p.Arg82Gln)	GALM (R82Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2399876	NM_138801.3(GALM):c.255A>T (p.Lys85Asn)	GALM (K85N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331846	NM_138801.3(GALM):c.267G>C (p.Lys89Asn)	GALM (K89N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2140428	NM_138801.3(GALM):c.280G>A (p.Glu94Lys)	GALM (E94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873020	NM_138801.3(GALM):c.294del (p.Ile99fs)	GALM (I99fs)	Deletion (frameshift variant)	Galactosemia 4	GPathogenic
Select item 2895366	NM_138801.3(GALM):c.312C>T (p.Asn104=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1543154	NM_138801.3(GALM):c.345+8C>T	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281134	NM_138801.3(GALM):c.346-137dup	GALM	Duplication (intron variant)	not provided	GBenign
Select item 1239167	NM_138801.3(GALM):c.346-137del	GALM	Deletion (intron variant)	not provided	GBenign
Select item 2082064	NM_138801.3(GALM):c.389C>T (p.Ser130Leu)	GALM (S130L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1608525	NM_138801.3(GALM):c.390G>A (p.Ser130=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1399250	NM_138801.3(GALM):c.391C>T (p.Arg131Cys)	GALM (R131C)	Single nucleotide variant (missense variant)	GALM-related disorder +1 more	GUncertain significance
Select item 2178197	NM_138801.3(GALM):c.410AAG[1] (p.Glu138del)	GALM (E138del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 873023	NM_138801.3(GALM):c.424G>A (p.Gly142Arg)	GALM (G142R)	Single nucleotide variant (missense variant)	Galactosemia 4 +2 more	GConflicting classifications of pathogenicity
Select item 1945972	NM_138801.3(GALM):c.463G>A (p.Gly155Arg)	GALM (G155R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1801440	NM_138801.3(GALM):c.553-3587_553-3586insCCTTCCTTCCTTCCTTCGCTTTCCCTTCGCTTCCTTCCTTCCCTTCCTTCT	GALM	Microsatellite (intron variant)	Schizophrenia	GUncertain significance
Select item 1246262	NM_138801.3(GALM):c.553-49T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1618616	NM_138801.3(GALM):c.566T>C (p.Ile189Thr)	GALM (I189T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1222775	NM_138801.3(GALM):c.568A>T (p.Asn190Tyr)	GALM (N190Y)	Single nucleotide variant (missense variant)	Galactosemia 4 +2 more	GBenign
Select item 2717597	NM_138801.3(GALM):c.577G>T (p.Glu193Ter)	GALM (E193*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1365327	NM_138801.3(GALM):c.602A>G (p.Tyr201Cys)	GALM (Y201C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1267486	NM_138801.3(GALM):c.634+127T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287416	NM_138801.3(GALM):c.635-193ATTT[6]	GALM	Microsatellite (intron variant)	not provided	GBenign
Select item 2603801	NM_138801.3(GALM):c.650T>G (p.Val217Gly)	GALM (V217G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1687267	NM_138801.3(GALM):c.661_663del (p.Ala221del)	GALM (A221del)	Deletion (inframe_deletion)	Galactosemia 4	GUncertain significance
Select item 2894502	NM_138801.3(GALM):c.666C>T (p.Phe222=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1606962	NM_138801.3(GALM):c.675A>G (p.Arg225=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902817	NM_138801.3(GALM):c.699C>T (p.His233=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2326772	NM_138801.3(GALM):c.700C>A (p.Leu234Met)	GALM (L234M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490384	NM_138801.3(GALM):c.737T>G (p.Phe246Cys)	GALM (F246C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280515	NM_138801.3(GALM):c.757G>A (p.Glu253Lys)	GALM (E253K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1278542	NM_138801.3(GALM):c.776+108A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183599	NM_138801.3(GALM):c.776+216T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2599467	NM_138801.3(GALM):c.796G>T (p.Gly266Trp)	GALM (G266W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 873022	NM_138801.3(GALM):c.799C>G (p.Arg267Gly)	GALM (R267G)	Single nucleotide variant (missense variant)	GALM-related disorder	GUncertain significance
Select item 3098042	NM_138801.3(GALM):c.826C>T (p.Pro276Ser)	GALM (P276S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2766061	NM_138801.3(GALM):c.846G>A (p.Thr282=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1601208	NM_138801.3(GALM):c.855C>T (p.Phe285=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1361152	NM_138801.3(GALM):c.889G>C (p.Val297Leu)	GALM (V297L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 873024	NM_138801.3(GALM):c.932G>A (p.Trp311Ter)	GALM (W311*)	Single nucleotide variant (nonsense)	Galactosemia 4	GPathogenic
Select item 1273112	NM_138801.3(GALM):c.952-185A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282077	NM_138801.3(GALM):c.952-139A>G	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1545849	NM_138801.3(GALM):c.952-8dup	GALM	Duplication (intron variant)	not provided	GBenign
Select item 1534819	NM_138801.3(GALM):c.952-12T>C	GALM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2634727	NM_138801.3(GALM):c.956G>A (p.Arg319His)	GALM (R319H)	Single nucleotide variant (missense variant)	GALM-related disorder	GUncertain significance
Select item 2417301	NM_138801.3(GALM):c.965C>T (p.Pro322Leu)	GALM (P322L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3049733	NM_138801.3(GALM):c.972G>C (p.Leu324=)	GALM	Single nucleotide variant (synonymous variant)	GALM-related disorder	GLikely benign
Select item 1634085	NM_138801.3(GALM):c.983G>A (p.Gly328Asp)	GALM (G328D)	Single nucleotide variant (missense variant)	GALM-related disorder +1 more	GBenign
Select item 1365815	NM_138801.3(GALM):c.985del (p.Glu329fs)	GALM (E329fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1397064	NM_138801.3(GALM):c.998A>G (p.His333Arg)	GALM (H333R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3280516	NM_138801.3(GALM):c.1021G>C (p.Val341Leu)	GALM (V341L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650840	NM_138801.3(GALM):c.1023G>A (p.Val341=)	GALM	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1238925	NM_138801.3(GALM):c.*116A>G	GALM	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 2427271	NC_000002.11:g.(?_38893304)_(38917056_?)del	GALM	Deletion	not provided	GPathogenic
Select item 2427270	NC_000002.11:g.(?_38893304)_(38893513_?)del	GALM	Deletion	not provided	GPathogenic
Select item 2425393	NC_000002.11:g.(?_37334416)_(39347563_?)dup	ARHGEF33, ATL2 +17 more	Duplication	RASopathy	GPathogenic
Select item 2422665	NC_000002.11:g.(?_38121051)_(47710088_?)dup	ABCG5, ABCG8 +52 more	Duplication	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 2422363	NC_000002.11:g.(?_38297865)_(38917056_?)del	CYP1B1, GALM +2 more	Deletion	Congenital glaucoma	GPathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1527803	GRCh37/hg19 2p23.2-21(chr2:29899368-42441440)	ALK, ARHGEF33 +52 more	Copy number loss	not specified	GPathogenic
Select item 1220534	GRCh37/hg19 2p23.3-21(chr2:24601818-43466284)x3	OTOF, OXER1 +131 more	Copy number gain	See cases	GPathogenic
Select item 1176757	GRCh37/hg19 2p23.3-21(chr2:24881528-43460021)x3	DNAJC27, DNAJC5G +131 more	Copy number gain	not provided	GLikely pathogenic
Select item 979968	GRCh37/hg19 2p22.2-22.1(chr2:38012532-39548268)x3	GALM, SRSF7 +12 more	Copy number gain	not provided	GUncertain significance
Select item 686405	GRCh37/hg19 2p22.1(chr2:38819908-38932694)x3	GALM, HNRNPLL	Copy number gain	not provided	GUncertain significance

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