ClinVar for MedGen (Select 75665) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068264	NM_000404.4(GLB1):c.1068+1G>T	GLB1	Single nucleotide variant (splice donor variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 3068200	NM_000404.4(GLB1):c.76-4399_76-4397del	GLB1 (R70del)	Microsatellite (inframe_deletion +1 more)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 3064524	NM_000404.4(GLB1):c.1027C>T (p.Leu343Phe)	GLB1 (L212F +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 2585573	NM_000404.4(GLB1):c.739A>G (p.Asn247Asp)	GLB1 (N247D +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 2585128	NM_000404.4(GLB1):c.1071_1073delinsGG (p.Phe357fs)	GLB1 (F357fs +3 more)	Indel (frameshift variant)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 2507026	NM_000404.4(GLB1):c.562G>T (p.Glu188Ter)	GLB1 (E158* +2 more)	Single nucleotide variant (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic
Select item 2500787	NM_000404.4(GLB1):c.130G>T (p.Asp44Tyr)	GLB1 (D14Y +2 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 1895462	NM_000404.4(GLB1):c.3G>A (p.Met1Ile)	GLB1, LOC129936434 +1 more (M1I)	Single nucleotide variant (missense variant +2 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 1878580	NM_000404.4(GLB1):c.1421A>G (p.Asp474Gly)	GLB1 (D343G +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 1878428	NM_001039770.3(TMPPE):c.-398_-397del	GLB1, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 1810758	NM_000404.4(GLB1):c.1122T>G (p.Tyr374Ter)	GLB1 (Y374* +3 more)	Single nucleotide variant (nonsense)	Infantile GM1 gangliosidosis	GPathogenic
Select item 1726739	NM_000404.4(GLB1):c.1023_1024del (p.Asp342fs)	GLB1 (D211fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1726335	NM_000404.4(GLB1):c.1379_1380del (p.Val460fs)	GLB1 (V329fs +3 more)	Microsatellite (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1725712	NM_000404.4(GLB1):c.230_231del (p.Leu77fs)	GLB1 (L125fs +2 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1725613	NM_000404.4(GLB1):c.487_488del (p.Gly163fs)	GLB1 (G133fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1725318	NM_000404.4(GLB1):c.500_501del (p.Pro167fs)	GLB1 (P137fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1724830	NM_000404.4(GLB1):c.1122T>A (p.Tyr374Ter)	GLB1 (Y243* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1724395	NM_000404.4(GLB1):c.835del (p.Gln279fs)	GLB1 (Q148fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 1710133	NM_000404.4(GLB1):c.569G>T (p.Gly190Val)	GLB1 (G160V +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 1699503	NM_000404.4(GLB1):c.2010dup (p.Asp671fs)	GLB1 (D540fs +3 more)	Duplication (frameshift variant +1 more)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 1685330	NM_000404.4(GLB1):c.553-2A>T	GLB1	Single nucleotide variant (splice acceptor variant +1 more)	Infantile GM1 gangliosidosis +2 more	GPathogenic/Likely pathogenic
Select item 1516780	NM_000404.4(GLB1):c.1256G>A (p.Arg419Gln)	GLB1 (R419Q +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 1454377	NM_000404.4(GLB1):c.1142del (p.Lys381fs)	GLB1 (K351fs +3 more)	Deletion (frameshift variant)	Mucopolysaccharidosis, MPS-IV-B +4 more	GPathogenic/Likely pathogenic
Select item 1449094	NM_000404.4(GLB1):c.591dup (p.Asp198Ter)	GLB1 (D168* +2 more)	Duplication (nonsense +1 more)	Mucopolysaccharidosis, MPS-IV-B +4 more	GPathogenic
Select item 1353182	NM_000404.4(GLB1):c.569G>A (p.Gly190Asp)	GLB1 (G238D +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic/Likely pathogenic
Select item 1332870	NM_000404.4(GLB1):c.1099C>T (p.Pro367Ser)	GLB1 (P236S +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 1332869	NM_001039770.3(TMPPE):c.-397dup	TMPPE, GLB1 +1 more	Duplication (5 prime UTR variant +1 more)	Infantile GM1 gangliosidosis	GPathogenic
Select item 1332779	NM_000404.4(GLB1):c.246-17_246-3del	GLB1	Deletion (intron variant)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 1332778	NM_000404.4(GLB1):c.266A>T (p.His89Leu)	GLB1 (H137L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GPathogenic
Select item 1332777	NM_000404.4(GLB1):c.425_428del (p.Lys142fs)	GLB1 (K112fs +2 more)	Deletion (frameshift variant +1 more)	Infantile GM1 gangliosidosis +2 more	GPathogenic
Select item 1330373	NM_000404.4(GLB1):c.808T>C (p.Tyr270His)	GLB1 (Y139H +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	Gnot provided
Select item 1324475	NM_000404.4(GLB1):c.1465_1466del (p.Ile489fs)	GLB1 (I358fs +3 more)	Microsatellite (frameshift variant)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 1300015	NM_000404.4(GLB1):c.451G>T (p.Asp151Tyr)	GLB1 (D151Y +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GPathogenic
Select item 1251981	NM_000404.4(GLB1):c.1010T>C (p.Leu337Pro)	GLB1 (L206P +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +2 more	GPathogenic/Likely pathogenic
Select item 1210419	NM_000404.4(GLB1):c.1784G>A (p.Arg595Gln)	GLB1 (R464Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GUncertain significance
Select item 1210418	NM_000404.4(GLB1):c.821T>C (p.Leu274Pro)	GLB1 (L143P +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +3 more	GUncertain significance
Select item 1199319	NM_000404.4(GLB1):c.1658T>C (p.Met553Thr)	GLB1 (M422T +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis +3 more	GUncertain significance
Select item 1174058	NM_000404.4(GLB1):c.76-4426C>T	GLB1	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GBenign
Select item 1174057	NM_000404.4(GLB1):c.733+78A>G	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1174056	NM_000404.4(GLB1):c.734-112T>C	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1174055	NM_000404.4(GLB1):c.734-99G>T	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1174054	NM_000404.4(GLB1):c.734-80G>A	GLB1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 1174036	NM_000404.4(GLB1):c.1233+91G>C	GLB1	Single nucleotide variant (intron variant)	Infantile GM1 gangliosidosis +1 more	GLikely benign
Select item 983743	NM_000404.4(GLB1):c.775G>T (p.Glu259Ter)	GLB1 (E128* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 983742	NM_000404.4(GLB1):c.819G>A (p.Trp273Ter)	GLB1 (W142* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +4 more	GPathogenic/Likely pathogenic
Select item 983741	NM_000404.4(GLB1):c.918C>A (p.Tyr306Ter)	GLB1 (Y175* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 983740	NM_000404.4(GLB1):c.1312G>T (p.Gly438Ter)	GLB1 (G307* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +2 more	GLikely pathogenic
Select item 917831	NM_000404.4(GLB1):c.149A>G (p.Tyr50Cys)	GLB1 (Y50C +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +1 more	GPathogenic
Select item 872974	NM_000404.4(GLB1):c.416T>A (p.Leu139Gln)	GLB1 (L109Q +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 842879	NM_000404.4(GLB1):c.1298_1299del (p.Ser433fs)	GLB1 (S302fs +3 more)	Microsatellite (frameshift variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 827672	NM_000404.4(GLB1):c.1318C>T (p.His440Tyr)	GLB1 (H410Y +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GPathogenic
Select item 818226	NM_000404.4(GLB1):c.407C>T (p.Pro136Leu)	GLB1 (P184L +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 807421	NM_000404.4(GLB1):c.716C>T (p.Thr239Met)	GLB1 (T239M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 800928	NM_000404.4(GLB1):c.950G>A (p.Trp317Ter)	GLB1 (W287* +3 more)	Single nucleotide variant (nonsense)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 800730	NM_000404.4(GLB1):c.385G>C (p.Glu129Gln)	GLB1 (E129Q +2 more)	Single nucleotide variant (missense variant +1 more)	Infantile GM1 gangliosidosis	GLikely pathogenic
Select item 733159	NM_000404.4(GLB1):c.2016A>G (p.Ser672=)	GLB1	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis +5 more	GConflicting classifications of pathogenicity
Select item 689485	NM_000404.4(GLB1):c.545C>G (p.Thr182Arg)	GLB1 (N111K +3 more)	Single nucleotide variant (missense variant)	Infantile GM1 gangliosidosis	GUncertain significance
Select item 684406	NM_000404.4(GLB1):c.495_497del (p.Leu166del)	GLB1 (L136del +3 more)	Deletion (inframe_deletion)	GM1 gangliosidosis +2 more	GConflicting classifications of pathogenicity
Select item 678119	NM_000404.4(GLB1):c.955+60A>G	GLB1	Single nucleotide variant (intron variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GBenign
Select item 568792	NM_000404.4(GLB1):c.817_818delinsCT (p.Trp273Leu)	GLB1 (W273L +3 more)	Indel (missense variant)	Mucopolysaccharidosis, MPS-IV-B +2 more	GPathogenic/Likely pathogenic
Select item 558711	NM_000404.4(GLB1):c.425_426del (p.Lys142fs)	GLB1 (K142fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 558705	NM_000404.4(GLB1):c.2032T>C (p.Ter678Arg)	GLB1	Single nucleotide variant (intron variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 558551	NM_000404.4(GLB1):c.188T>A (p.Phe63Tyr)	GLB1 (F63Y +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 558272	NM_000404.4(GLB1):c.1471G>A (p.Asp491Asn)	GLB1 (D491N +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 558213	NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)	GLB1 (K346N +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 557859	NM_000404.4(GLB1):c.733+2_733+4del	GLB1	Deletion (splice donor variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 557709	NM_000404.4(GLB1):c.1746G>A (p.Trp582Ter)	GLB1 (W582* +3 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 557669	NM_000404.4(GLB1):c.1479+1G>A	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 557667	NM_000404.4(GLB1):c.626del (p.His209fs)	GLB1 (H209fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 557540	NM_000404.4(GLB1):c.302del (p.Asp101fs)	GLB1 (D149fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 557535	NM_000404.4(GLB1):c.2034A>C (p.Ter678Cys)	GLB1	Single nucleotide variant (stop lost +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 557226	NM_000404.4(GLB1):c.1144-2A>G	GLB1	Single nucleotide variant (splice acceptor variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 557185	NM_000404.4(GLB1):c.2011del (p.Asp671fs)	GLB1 (D641fs +3 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 557052	NM_000404.4(GLB1):c.846del (p.Thr283fs)	GLB1 (T152fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic
Select item 556862	NM_000404.4(GLB1):c.395T>C (p.Met132Thr)	GLB1 (M132T +2 more)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +3 more	GConflicting classifications of pathogenicity
Select item 556658	NM_000404.4(GLB1):c.971A>G (p.Tyr324Cys)	GLB1 (Y324C +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 556646	NM_000404.4(GLB1):c.769_792+13del	GLB1	Deletion (splice donor variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 556506	NM_000404.4(GLB1):c.501C>T (p.Pro167=)	GLB1 (Q97*)	Single nucleotide variant (synonymous variant +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 556286	NM_000404.4(GLB1):c.1233+1G>A	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 556285	NM_000404.4(GLB1):c.1714C>T (p.Gln572Ter)	GLB1 (Q572* +3 more)	Single nucleotide variant (nonsense)	GM1 gangliosidosis type 3 +4 more	GPathogenic/Likely pathogenic
Select item 556153	NM_000404.4(GLB1):c.401G>T (p.Gly134Val)	GLB1 (G134V +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 555675	NM_000404.4(GLB1):c.1978A>T (p.Arg660Ter)	GLB1 (R660* +3 more)	Single nucleotide variant (nonsense +1 more)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 555363	NM_000404.4(GLB1):c.1454A>G (p.Tyr485Cys)	GLB1 (Y485C +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 555329	NM_000404.4(GLB1):c.65_75+1del	TMPPE, LOC129936434 +1 more	Deletion (5 prime UTR variant +1 more)	Mucopolysaccharidosis, MPS-IV-B +5 more	GPathogenic/Likely pathogenic
Select item 555286	NM_000404.4(GLB1):c.248A>G (p.Tyr83Cys)	GLB1 (Y83C +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 555117	NM_000404.4(GLB1):c.1510_1511insGA (p.Asn504fs)	GLB1 (N474fs +3 more)	Insertion (frameshift variant)	GM1 gangliosidosis type 3 +4 more	GPathogenic/Likely pathogenic
Select item 555030	NM_000404.4(GLB1):c.335A>C (p.His112Pro)	GLB1 (H112P +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 555028	NM_000404.4(GLB1):c.797A>G (p.Asn266Ser)	GLB1 (N266S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +3 more	GUncertain significance
Select item 554850	NM_000404.4(GLB1):c.765G>C (p.Gln255His)	GLB1 (Q255H +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GLikely pathogenic
Select item 554728	NM_000404.4(GLB1):c.245+1G>C	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic
Select item 554550	NM_000404.4(GLB1):c.152T>A (p.Ile51Asn)	GLB1 (I51N +2 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 554283	NM_000404.4(GLB1):c.645_648del (p.Val216fs)	GLB1 (V186fs +2 more)	Deletion (frameshift variant +1 more)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 554101	NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser)	GLB1 (N437S +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis +6 more	GConflicting classifications of pathogenicity
Select item 553673	NM_000404.4(GLB1):c.552+2T>C	GLB1	Single nucleotide variant (splice donor variant)	GM1 gangliosidosis type 2 +4 more	GLikely pathogenic
Select item 553636	NM_000404.4(GLB1):c.1438A>G (p.Met480Val)	GLB1 (M480V +3 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 553506	NM_000404.4(GLB1):c.1452C>G (p.Asn484Lys)	GLB1 (N484K +3 more)	Single nucleotide variant (missense variant)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 553205	NM_000404.4(GLB1):c.446C>T (p.Ser149Phe)	GLB1 (S149F +2 more)	Single nucleotide variant (missense variant +1 more)	GM1 gangliosidosis type 2 +4 more	GConflicting classifications of pathogenicity
Select item 553125	NM_000404.4(GLB1):c.733+1G>A	GLB1	Single nucleotide variant (splice donor variant +1 more)	GM1 gangliosidosis type 2 +5 more	GPathogenic/Likely pathogenic
Select item 552879	NM_000404.4(GLB1):c.1500_1503del (p.Leu501fs)	GLB1 (L471fs +3 more)	Deletion (frameshift variant)	GM1 gangliosidosis type 2 +3 more	GLikely pathogenic
Select item 552535	NM_000404.4(GLB1):c.694dup (p.Ala232fs)	GLB1 (A280fs +2 more)	Duplication (frameshift variant +1 more)	GM1 gangliosidosis type 2 +4 more	GPathogenic/Likely pathogenic

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