ClinVar for MedGen (Select 43376) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954399	NM_000404.4(GLB1):c.1348-7C>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2954366	NM_000404.4(GLB1):c.1233+12A>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2954179	NM_000404.4(GLB1):c.1583del (p.Gly528fs)	GLB1 (G498fs +3 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GPathogenic
Select item 2954097	NM_000404.4(GLB1):c.1582G>T (p.Gly528Ter)	GLB1 (G397* +3 more)	Single nucleotide variant (nonsense)	Mucopolysaccharidosis, MPS-IV-B +1 more	GPathogenic
Select item 2954068	NM_000404.4(GLB1):c.579T>C (p.Phe193=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2953983	NM_000404.4(GLB1):c.1314A>G (p.Gly438=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2953954	NM_000404.4(GLB1):c.245+10A>T	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2953746	NM_000404.4(GLB1):c.1348-5dup	GLB1	Duplication (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GBenign
Select item 2953718	NM_000404.4(GLB1):c.1233+13A>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2953563	NM_000404.4(GLB1):c.572G>T (p.Ser191Ile)	GLB1 (S161I +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2953343	NM_000404.4(GLB1):c.1801T>C (p.Leu601=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2952355	NM_000404.4(GLB1):c.279A>G (p.Pro93=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2952169	NM_000404.4(GLB1):c.1911G>T (p.Thr637=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2951995	NM_000404.4(GLB1):c.504G>A (p.Lys168=)	GLB1 (D98N)	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2951745	NM_000404.4(GLB1):c.631C>T (p.Leu211=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2951339	NM_000404.4(GLB1):c.971A>C (p.Tyr324Ser)	GLB1 (Y294S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2951049	NM_000404.4(GLB1):c.1742T>G (p.Val581Gly)	GLB1 (V450G +3 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2950971	NM_000404.4(GLB1):c.1570C>T (p.Leu524=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2950945	NM_000404.4(GLB1):c.246-20G>C	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2950588	NM_000404.4(GLB1):c.1231C>T (p.Gln411Ter)	GLB1 (Q411* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2950407	NM_000404.4(GLB1):c.1689A>G (p.Pro563=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2950242	NM_000404.4(GLB1):c.520T>G (p.Tyr174Asp)	GLB1 (Y222D +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2950237	NM_000404.4(GLB1):c.1584A>G (p.Gly528=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2949039	NM_000404.4(GLB1):c.246-10G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2948930	NM_000404.4(GLB1):c.1500T>G (p.Thr500=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2948603	NM_000404.4(GLB1):c.76-16del	GLB1	Deletion (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GBenign
Select item 2948338	NM_000404.4(GLB1):c.915-11T>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2948279	NM_000404.4(GLB1):c.397-17T>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2948270	NM_000404.4(GLB1):c.426dup (p.Glu143fs)	GLB1 (E113fs +2 more)	Duplication (frameshift variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GPathogenic
Select item 2948082	NM_001039770.3(TMPPE):c.-381G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2947807	NM_000404.4(GLB1):c.1225del (p.Gln408_Val409insTer)	GLB1	Deletion (nonsense)	Mucopolysaccharidosis, MPS-IV-B +1 more	GPathogenic
Select item 2947580	NM_000404.4(GLB1):c.378C>T (p.Ile126=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2947505	NM_000404.4(GLB1):c.457+11dup	GLB1	Duplication (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2947388	NM_000404.4(GLB1):c.1263A>C (p.Thr421=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2947256	NM_000404.4(GLB1):c.956-4C>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946968	NM_000404.4(GLB1):c.733+10T>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946897	NM_000404.4(GLB1):c.734-10C>T	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946874	NM_000404.4(GLB1):c.1068+18G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946862	NM_000404.4(GLB1):c.76-1G>T	GLB1	Single nucleotide variant (splice acceptor variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely pathogenic
Select item 2946730	NM_000404.4(GLB1):c.915-18T>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946689	NM_000404.4(GLB1):c.915-14T>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946678	NM_001039770.3(TMPPE):c.-385C>T	TMPPE, GLB1 +1 more	Single nucleotide variant (intron variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946577	NM_000404.4(GLB1):c.318T>C (p.Tyr106=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2946183	NM_000404.4(GLB1):c.765G>T (p.Gln255His)	GLB1 (Q225H +3 more)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely pathogenic
Select item 2946129	NM_000404.4(GLB1):c.458-13T>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2945914	NM_000404.4(GLB1):c.396+9G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2945891	NM_000404.4(GLB1):c.696C>T (p.Ala232=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2945675	NM_000404.4(GLB1):c.572G>C (p.Ser191Thr)	GLB1 (S239T +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely pathogenic
Select item 2945432	NM_000404.4(GLB1):c.1479+7C>T	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944910	NM_000404.4(GLB1):c.1038G>A (p.Lys346=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944891	NM_000404.4(GLB1):c.734-14C>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944594	NM_000404.4(GLB1):c.457+14G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944524	NM_000404.4(GLB1):c.1056C>T (p.Asn352=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944112	NM_000404.4(GLB1):c.447C>T (p.Ser149=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944111	NM_000404.4(GLB1):c.516C>T (p.Leu172=)	GLB1 (P102S)	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944092	NM_000404.4(GLB1):c.321T>C (p.Phe107=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944086	NM_000404.4(GLB1):c.246-16G>C	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2944052	NM_000404.4(GLB1):c.45G>C (p.Leu15=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2943875	NM_000404.4(GLB1):c.137_138delinsCC (p.Gln46Pro)	GLB1 (Q16P +2 more)	Indel (missense variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GUncertain significance
Select item 2943811	NM_000404.4(GLB1):c.786A>C (p.Gly262=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2943642	NM_000404.4(GLB1):c.245+19G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2943575	NM_000404.4(GLB1):c.771G>A (p.Lys257=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2943569	NM_000404.4(GLB1):c.1387_1388del (p.Leu463fs)	GLB1 (L433fs +3 more)	Microsatellite (frameshift variant)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2943193	NM_000404.4(GLB1):c.1347+7A>G	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2943131	NM_000404.4(GLB1):c.750T>C (p.Asp250=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2943030	NM_000404.4(GLB1):c.882T>C (p.Tyr294=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2942924	NM_000404.4(GLB1):c.591del (p.Phe197fs)	GLB1 (F167fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2942918	NM_000404.4(GLB1):c.552+1G>A	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2942836	NM_000404.4(GLB1):c.1577del (p.Gly526fs)	GLB1 (G526fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2942833	NM_000404.4(GLB1):c.1256G>C (p.Arg419Pro)	GLB1 (R389P +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2942831	NM_000404.4(GLB1):c.151A>C (p.Ile51Leu)	GLB1 (I51L +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2942613	NM_000404.4(GLB1):c.560dup (p.Asn187fs)	GLB1 (N157fs +2 more)	Duplication (frameshift variant +1 more)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2942540	NM_000404.4(GLB1):c.1083A>G (p.Pro361=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2942233	NM_000404.4(GLB1):c.747A>T (p.Thr249=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2942117	NM_000404.4(GLB1):c.1068+18G>C	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2942110	NM_000404.4(GLB1):c.915-2A>G	GLB1	Single nucleotide variant (splice acceptor variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2941912	NM_000404.4(GLB1):c.1842C>T (p.Asn614=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2941817	NM_000404.4(GLB1):c.780C>T (p.Pro260=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2941816	NM_000404.4(GLB1):c.1188_1189delinsCT (p.Pro397Ser)	GLB1 (P266S +3 more)	Indel (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2941769	NM_000404.4(GLB1):c.1224G>A (p.Gln408=)	GLB1	Single nucleotide variant (synonymous variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2941656	NM_000404.4(GLB1):c.1375_1377del (p.Asn459del)	GLB1 (N328del +3 more)	Deletion (inframe_deletion)	GM1 gangliosidosis +1 more	GUncertain significance
Select item 2941466	NM_000404.4(GLB1):c.514CTC[1] (p.Leu173del)	GLB1 (L143del +3 more)	Microsatellite (inframe_deletion)	GM1 gangliosidosis +1 more	GPathogenic
Select item 2941454	NM_000404.4(GLB1):c.2016A>T (p.Ser672=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2941257	NM_000404.4(GLB1):c.1479+20C>G	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2941220	NM_000404.4(GLB1):c.1060A>G (p.Ile354Val)	GLB1 (I223V +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2940661	NM_001039770.3(TMPPE):c.-382G>A	GLB1, LOC129936434 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940463	NM_000404.4(GLB1):c.1855C>T (p.Leu619=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940375	NM_000404.4(GLB1):c.1660G>A (p.Gly554Arg)	GLB1 (G524R +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GLikely pathogenic
Select item 2940136	NM_000404.4(GLB1):c.12C>T (p.Phe4=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940077	NM_000404.4(GLB1):c.1812C>T (p.Pro604=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2940062	NM_000404.4(GLB1):c.1143+11A>G	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2939847	NM_000404.4(GLB1):c.1143+16A>T	GLB1	Single nucleotide variant (intron variant)	GM1 gangliosidosis +1 more	GLikely benign
Select item 2939378	NM_000404.4(GLB1):c.936C>A (p.Thr312=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2939107	NM_000404.4(GLB1):c.1069-17T>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2938798	NM_000404.4(GLB1):c.1350C>T (p.Ile450=)	GLB1	Single nucleotide variant (synonymous variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2938645	NM_000404.4(GLB1):c.1340_1341dup (p.Asp448fs)	GLB1 (D418fs +3 more)	Microsatellite (frameshift variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GPathogenic
Select item 2938561	NM_000404.4(GLB1):c.246-20G>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2938317	NM_000404.4(GLB1):c.245+19G>T	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2938204	NM_000404.4(GLB1):c.33G>C (p.Leu11=)	GLB1, LOC129936434 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign
Select item 2938172	NM_000404.4(GLB1):c.76-12C>A	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +1 more	GLikely benign

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