Related gene-specific medical variations for Gene (Select 4125) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344450	NM_000528.4(MAN2B1):c.1419+1G>C	LOC129391064, MAN2B1	Single nucleotide variant (splice donor variant)	MAN2B1-related disorder	GLikely pathogenic
Select item 3248402	NC_000019.9:g.(?_12758358)_(12759516_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3248401	NC_000019.9:g.(?_12762947)_(12769344_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 3248400	NC_000019.9:g.(?_12767365)_(12769344_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 3248399	NC_000019.9:g.(?_12757434)_(12772210_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 3248398	NC_000019.9:g.(?_12762947)_(12772210_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 3248397	NC_000019.9:g.(?_12757434)_(12758432_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 3248396	NC_000019.9:g.(?_12760707)_(12761056_?)del	MAN2B1	Deletion	Deficiency of alpha-mannosidase	GPathogenic
Select item 3241891	NM_000528.4(MAN2B1):c.168dup (p.Thr57fs)	MAN2B1 (T57fs)	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 3241889	NM_000528.4(MAN2B1):c.1478del (p.Cys493fs)	MAN2B1 (C492fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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 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 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 3241885	NM_000528.4(MAN2B1):c.590_591dup (p.Phe198fs)	MAN2B1 (F198fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
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 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 3241882	NM_000528.4(MAN2B1):c.764-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	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 3241880	NM_000528.4(MAN2B1):c.820_821del (p.Val274fs)	MAN2B1 (V274fs)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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 3241878	NM_000528.4(MAN2B1):c.709C>T (p.Gln237Ter)	MAN2B1 (Q237*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic
Select item 3239678	NM_000528.4(MAN2B1):c.938_939del (p.Val313fs)	MAN2B1 (V313fs)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 3068373	NM_000528.4(MAN2B1):c.1349G>T (p.Ser450Ile)	LOC129391064, MAN2B1 (S449I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 3024226	NC_000019.10:g.12536733_12537889del	MAN2B1, ZNF564	Deletion (intron variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 3014463	NM_000528.4(MAN2B1):c.1419+20G>A	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 3004194	NM_000528.4(MAN2B1):c.46C>T (p.Leu16=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2996910	NM_000528.4(MAN2B1):c.2704C>T (p.Leu902=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2995667	NM_000528.4(MAN2B1):c.2736G>C (p.Met912Ile)	LOC130063648, MAN2B1 (M912I +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2989369	NM_000528.4(MAN2B1):c.1386G>A (p.Ala462=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2968932	NM_000528.4(MAN2B1):c.2730C>G (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2962193	NM_000528.4(MAN2B1):c.15G>A (p.Ala5=)	MAN2B1, LOC130063650	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2955594	NM_000528.4(MAN2B1):c.1419+16C>T	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2900895	NM_000528.4(MAN2B1):c.1359C>T (p.Ser453=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2864683	NM_000528.4(MAN2B1):c.2692_2737del (p.Pro898fs)	LOC130063648, MAN2B1 (P897fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 2859757	NM_000528.4(MAN2B1):c.2691G>T (p.Pro897=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2853179	NM_000528.4(MAN2B1):c.1389C>T (p.Arg463=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2847698	NM_000528.4(MAN2B1):c.1410G>T (p.Gly470=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2833493	NM_000528.4(MAN2B1):c.1419+1G>T	LOC129391064, MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2828208	NM_000528.4(MAN2B1):c.1419+7G>A	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2814350	NM_000528.4(MAN2B1):c.1395T>C (p.Leu465=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2804942	NM_000528.4(MAN2B1):c.1410G>A (p.Gly470=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2789726	NM_000528.4(MAN2B1):c.2703C>T (p.His901=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2755753	NM_000528.4(MAN2B1):c.2694C>G (p.Pro898=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2745664	NM_000528.4(MAN2B1):c.2730C>A (p.Pro910=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2731941	NM_000528.4(MAN2B1):c.1419+13A>G	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2689393	NM_000528.4(MAN2B1):c.1422TCT[1] (p.Leu476del)	MAN2B1 (L475del +1 more)	Microsatellite (inframe_deletion)	Deficiency of alpha-mannosidase	GUncertain significance
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 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 2676442	NM_000528.4(MAN2B1):c.2596del (p.Ala866fs)	MAN2B1 (A865fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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 2676440	NM_000528.4(MAN2B1):c.1527+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely 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 2676435	NM_000528.4(MAN2B1):c.1110dup	MAN2B1	Duplication	Deficiency of alpha-mannosidase	GLikely pathogenic
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 2676433	NM_000528.4(MAN2B1):c.1156del (p.Gln386fs)	MAN2B1 (Q385fs +1 more)	Deletion (frameshift 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 2676431	NM_000528.4(MAN2B1):c.2396del (p.Gln799fs)	MAN2B1 (Q798fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2676430	NM_000528.4(MAN2B1):c.119dup (p.Leu40fs)	MAN2B1 (L40fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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 2676428	NM_000528.4(MAN2B1):c.2436+5G>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely 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 2676424	NM_000528.4(MAN2B1):c.1310-2A>G	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic
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 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 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 2676420	NM_000528.4(MAN2B1):c.1223_1224delinsAA (p.Phe408Ter)	MAN2B1 (F407* +1 more)	Indel (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 2433630	NM_000528.4(MAN2B1):c.763G>C (p.Gly255Arg)	MAN2B1 (G255R)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2230804	NM_000528.4(MAN2B1):c.1419+5G>A	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2172234	NM_000528.4(MAN2B1):c.8C>T (p.Ala3Val)	LOC130063650, MAN2B1 (A3V)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2145758	NM_000528.4(MAN2B1):c.60C>T (p.Gly20=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2131067	NM_000528.4(MAN2B1):c.92C>T (p.Pro31Leu)	LOC130063650, MAN2B1 (P31L)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2130962	NM_000528.4(MAN2B1):c.75C>T (p.Ser25=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2104322	NM_000528.4(MAN2B1):c.1350C>T (p.Ser450=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2100681	NM_000528.4(MAN2B1):c.1401A>T (p.Ala467=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2085679	NM_000528.4(MAN2B1):c.1419G>A (p.Glu473=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2081546	NM_000528.4(MAN2B1):c.87G>A (p.Arg29=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2061916	NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)	LOC130063650, MAN2B1 (A3T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2059254	NM_000528.4(MAN2B1):c.15G>C (p.Ala5=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2044507	NM_000528.4(MAN2B1):c.2690C>T (p.Pro897Leu)	LOC130063648, MAN2B1 (P896L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 2038024	NM_000528.4(MAN2B1):c.2697G>A (p.Ser899=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 2023343	NM_000528.4(MAN2B1):c.18G>C (p.Arg6=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1998380	NM_000528.4(MAN2B1):c.1375_1377del (p.Asn459del)	LOC129391064, MAN2B1 (N459del +1 more)	Deletion (inframe_deletion)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1992321	NM_000528.4(MAN2B1):c.454A>T (p.Asn152Tyr)	MAN2B1 (N152Y)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1943953	NM_000528.4(MAN2B1):c.2680A>G (p.Arg894Gly)	LOC130063648, MAN2B1 (R893G +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1936802	NM_000528.4(MAN2B1):c.1350C>A (p.Ser450Arg)	LOC129391064, MAN2B1 (S449R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1932246	NM_000528.4(MAN2B1):c.5G>T (p.Gly2Val)	LOC130063650, MAN2B1 (G2V)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1928891	NM_000528.4(MAN2B1):c.1408G>A (p.Gly470Arg)	LOC129391064, MAN2B1 (G469R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1915843	NM_000528.4(MAN2B1):c.2678G>A (p.Arg893His)	LOC130063648, MAN2B1 (R892H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1910946	NM_000528.4(MAN2B1):c.1377C>T (p.Asn459=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1901975	NM_000528.4(MAN2B1):c.2696C>T (p.Ser899Leu)	LOC130063648, MAN2B1 (S899L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1726101	NM_000528.4(MAN2B1):c.1360dup (p.Arg454fs)	LOC129391064, MAN2B1 (R453fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1714489	NM_000528.4(MAN2B1):c.2740C>A (p.Leu914Met)	LOC130063648, MAN2B1 (L913M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1678785	NM_000528.4(MAN2B1):c.1419+29G>A	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1658757	NM_000528.4(MAN2B1):c.1362C>T (p.Arg454=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1658005	NM_000528.4(MAN2B1):c.96C>T (p.Leu32=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1651768	NM_000528.4(MAN2B1):c.1386G>T (p.Ala462=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1649408	NM_000528.4(MAN2B1):c.60C>A (p.Gly20=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1642763	NM_000528.4(MAN2B1):c.2700G>T (p.Val900=)	LOC130063648, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 1616221	NM_000528.4(MAN2B1):c.57A>G (p.Ala19=)	LOC130063650, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GLikely benign

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