"Baylor Genetics"[submitter] AND "MAN2B1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 208281	NM_000528.4(MAN2B1):c.2999T>C (p.Phe1000Ser)	MAN2B1 (F1000S +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2676432	NM_000528.4(MAN2B1):c.2917_2923+1dup	MAN2B1	Duplication (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 208280	NM_000528.4(MAN2B1):c.2867T>G (p.Leu956Arg)	MAN2B1 (L956R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 555682	NM_000528.4(MAN2B1):c.2820+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 370914	NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)	MAN2B1 (V934fs +1 more)	Duplication (frameshift variant)	MAN2B1-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 2676437	NM_000528.4(MAN2B1):c.2778_2781dup (p.Gly928fs)	MAN2B1 (G927fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 287586	NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg)	MAN2B1 (G928R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2676423	NM_000528.4(MAN2B1):c.2758C>T (p.Gln920Ter)	MAN2B1 (Q919* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 983953	NM_000528.4(MAN2B1):c.2752G>T (p.Glu918Ter)	MAN2B1 (E917* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 208278	NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)	MAN2B1 (R916H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328255	NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)	LOC130063648, MAN2B1 (H901N +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GUncertain significance
Select item 370174	NM_000528.4(MAN2B1):c.2696C>A (p.Ser899Ter)	LOC130063648, MAN2B1 (S899* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 552770	NM_000528.4(MAN2B1):c.2669C>G (p.Ser890Ter)	MAN2B1 (S890* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic
Select item 2676442	NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)	MAN2B1 (A865fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1709138	NM_000528.4(MAN2B1):c.2544_2568dup (p.Arg857fs)	MAN2B1 (R856fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3241890	NM_000528.4(MAN2B1):c.2534_2543del (p.Leu845fs)	MAN2B1 (L844fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1028818	NM_000528.4(MAN2B1):c.2467C>T (p.Arg823Cys)	MAN2B1 (R822C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2676428	NM_000528.4(MAN2B1):c.2436+5G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 93214	NM_000528.4(MAN2B1):c.2436+2T>C	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase +1 more	GPathogenic/Likely pathogenic
Select item 21210	NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro)	MAN2B1 (L809P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1073719	NM_000528.4(MAN2B1):c.2414_2417del (p.Arg805fs)	MAN2B1 (R804fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 208273	NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)	MAN2B1 (G800R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2676431	NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)	MAN2B1 (Q798fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2702640	NM_000528.4(MAN2B1):c.2279_2280del (p.Arg760fs)	MAN2B1 (R760fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1685	NM_000528.4(MAN2B1):c.2278C>T (p.Arg760Ter)	MAN2B1 (R760* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 3241888	NM_000528.4(MAN2B1):c.2276del (p.Tyr759fs)	MAN2B1 (Y758fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1476281	NM_000528.4(MAN2B1):c.2267+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1687	NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)	MAN2B1 (R750W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2676444	NM_000528.4(MAN2B1):c.2222del (p.Gly741fs)	MAN2B1 (G740fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1071094	NM_000528.4(MAN2B1):c.2175G>A (p.Trp725Ter)	MAN2B1 (W724* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2676422	NM_000528.4(MAN2B1):c.2126_2127del (p.His709fs)	MAN2B1 (H708fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 553630	NM_000528.4(MAN2B1):c.2046+2T>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase +1 more	GPathogenic/Likely pathogenic
Select item 558100	NM_000528.4(MAN2B1):c.2046+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 848854	NM_000528.4(MAN2B1):c.2013del (p.Pro671_Val672insTer)	MAN2B1	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 2676434	NM_000528.4(MAN2B1):c.1996_1999del (p.Gln666fs)	MAN2B1 (Q665fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2676436	NM_000528.4(MAN2B1):c.1963del (p.Gln655fs)	MAN2B1 (Q654fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 93212	NM_000528.4(MAN2B1):c.1929G>A (p.Trp643Ter)	MAN2B1 (W643* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 521235	NM_000528.4(MAN2B1):c.1929-1G>T	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase +1 more	GPathogenic/Likely pathogenic
Select item 2676429	NM_000528.4(MAN2B1):c.1929-2A>T	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 974961	NM_000528.4(MAN2B1):c.1929-2A>G	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 658737	NM_000528.4(MAN2B1):c.1928G>A (p.Trp643Ter)	MAN2B1 (W643* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2676443	NM_000528.4(MAN2B1):c.1859_1860del (p.Thr620fs)	MAN2B1 (T619fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2736807	NM_000528.4(MAN2B1):c.1858dup (p.Thr620fs)	MAN2B1 (T620fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 21207	NM_000528.4(MAN2B1):c.1830+1G>C	MAN2B1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 370997	NM_000528.4(MAN2B1):c.1687G>T (p.Glu563Ter)	MAN2B1 (E563* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 559883	NM_000528.4(MAN2B1):c.1645-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1323267	NM_000528.4(MAN2B1):c.1528-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 371368	NM_000528.4(MAN2B1):c.1528-1G>T	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1414424	NM_000528.4(MAN2B1):c.1527+2T>G	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 2676440	NM_000528.4(MAN2B1):c.1527+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 813440	NM_000528.4(MAN2B1):c.1516_1519del (p.Thr506fs)	MAN2B1 (T506fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3241889	NM_000528.4(MAN2B1):c.1478del (p.Cys493fs)	MAN2B1 (C492fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2419159	NM_000528.4(MAN2B1):c.1420-27_1420-3del	MAN2B1	Deletion (intron variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3241883	NM_000528.4(MAN2B1):c.1419+1G>A	LOC129391064, MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 661591	NM_000528.4(MAN2B1):c.1404dup (p.Trp469fs)	LOC129391064, MAN2B1 (W469fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 848454	NM_000528.4(MAN2B1):c.1388_1389del (p.Arg463fs)	LOC129391064, MAN2B1 (R462fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 281152	NM_000528.4(MAN2B1):c.1383C>A (p.Tyr461Ter)	LOC129391064, MAN2B1 (Y461* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 189068	NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter)	LOC129391064, MAN2B1 (Y461* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 3241887	NM_000528.4(MAN2B1):c.1379del (p.Asp460fs)	LOC129391064, MAN2B1 (D459fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 208266	NM_000528.4(MAN2B1):c.1351G>T (p.Gly451Cys)	LOC129391064, MAN2B1 (G451C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 3241884	NM_000528.4(MAN2B1):c.1330C>T (p.Gln444Ter)	MAN2B1 (Q443* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2676424	NM_000528.4(MAN2B1):c.1310-2A>G	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 370755	NM_000528.4(MAN2B1):c.1309+1G>T	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 371610	NM_000528.4(MAN2B1):c.1280_1296del (p.Pro427fs)	MAN2B1 (P426fs +1 more)	Deletion (frameshift variant)	Intellectual disability +1 more	GPathogenic/Likely pathogenic
Select item 208264	NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)	MAN2B1 (G420V +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 2676421	NM_000528.4(MAN2B1):c.1240C>T (p.Gln414Ter)	MAN2B1 (Q413* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1028817	NM_000528.4(MAN2B1):c.1228C>T (p.Gln410Ter)	MAN2B1 (Q409* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic
Select item 2676420	NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)	MAN2B1 (F407* +1 more)	Indel (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1457518	NM_000528.4(MAN2B1):c.1197dup (p.Arg400fs)	MAN2B1 (R400fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 2676433	NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)	MAN2B1 (Q385fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2817941	NM_000528.4(MAN2B1):c.1132_1133del (p.Phe378fs)	MAN2B1 (F377fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1365949	NM_000528.4(MAN2B1):c.1117A>T (p.Lys373Ter)	MAN2B1 (K372* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2676435	NM_000528.4(MAN2B1):c.1110dup	MAN2B1	Duplication	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 189118	NM_000528.4(MAN2B1):c.1109G>A (p.Trp370Ter)	MAN2B1 (W370* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 3241886	NM_000528.4(MAN2B1):c.1057_1061del (p.Tyr353fs)	MAN2B1 (Y352fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1073277	NM_000528.4(MAN2B1):c.1048dup (p.His350fs)	MAN2B1 (H349fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676441	NM_000528.4(MAN2B1):c.1027-2A>C	MAN2B1	Single nucleotide variant (intron variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1726288	NM_000528.4(MAN2B1):c.969del (p.Asn324fs)	MAN2B1 (N324fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 632303	NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)	MAN2B1 (E286K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3241880	NM_000528.4(MAN2B1):c.820_821del (p.Val274fs)	MAN2B1 (V274fs)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 208259	NM_000528.4(MAN2B1):c.788C>T (p.Pro263Leu)	MAN2B1 (P263L)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3241882	NM_000528.4(MAN2B1):c.764-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 554714	NM_000528.4(MAN2B1):c.764-1G>C	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 371229	NM_000528.4(MAN2B1):c.763+2_763+8del	MAN2B1	Deletion (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 3241878	NM_000528.4(MAN2B1):c.709C>T (p.Gln237Ter)	MAN2B1 (Q237*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic
Select item 208258	NM_000528.4(MAN2B1):c.685C>T (p.Arg229Trp)	MAN2B1 (R229W)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GPathogenic/Likely pathogenic
Select item 3241879	NM_000528.4(MAN2B1):c.682del (p.Val228fs)	MAN2B1 (V228fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2676426	NM_000528.4(MAN2B1):c.664_667del (p.Asp222fs)	MAN2B1 (D222fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 208255	NM_000528.4(MAN2B1):c.598C>A (p.His200Asn)	MAN2B1 (H200N)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2676427	NM_000528.4(MAN2B1):c.593dup (p.Gly199fs)	MAN2B1 (G199fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3241885	NM_000528.4(MAN2B1):c.590_591dup (p.Phe198fs)	MAN2B1 (F198fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 208254	NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)	MAN2B1 (P197R)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GLikely pathogenic
Select item 3241881	NM_000528.4(MAN2B1):c.579G>A (p.Trp193Ter)	MAN2B1 (W193*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic
Select item 633292	NM_000528.4(MAN2B1):c.562C>T (p.Arg188Ter)	MAN2B1 (R188*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1454963	NM_000528.4(MAN2B1):c.561del (p.Arg188fs)	MAN2B1 (R188fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 1075422	NM_000528.4(MAN2B1):c.437-1dup	MAN2B1	Duplication (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 2200305	NM_000528.4(MAN2B1):c.437-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 844937	NM_000528.4(MAN2B1):c.426del (p.Val143fs)	MAN2B1 (V143fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 371425	NM_000528.4(MAN2B1):c.422del (p.Asp141fs)	MAN2B1 (D141fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 328281	NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)	MAN2B1 (R140*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic

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