C0024748[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 328248	NM_000528.4(MAN2B1):c.*105C>G	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328249	NM_000528.4(MAN2B1):c.*100T>G	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 888873	NM_000528.4(MAN2B1):c.*91C>T	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328250	NM_000528.4(MAN2B1):c.*42G>A	MAN2B1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 888874	NM_000528.4(MAN2B1):c.*41C>T	MAN2B1	Single nucleotide variant (3 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 888875	NM_000528.4(MAN2B1):c.3006C>A (p.Ala1002=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 729970	NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His)	MAN2B1 (R997H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GBenign
Select item 328251	NM_000528.4(MAN2B1):c.2991C>T (p.Ile997=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 733193	NM_000528.4(MAN2B1):c.2973G>A (p.Thr991=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 328252	NM_000528.4(MAN2B1):c.2886C>T (p.Arg962=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 890568	NM_000528.4(MAN2B1):c.2883C>A (p.Leu961=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328253	NM_000528.4(MAN2B1):c.2865G>A (p.Thr955=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 93215	NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=)	MAN2B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 890569	NM_000528.4(MAN2B1):c.2849G>A (p.Arg950His)	MAN2B1 (R950H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 890570	NM_000528.4(MAN2B1):c.2796C>G (p.Ser932Arg)	MAN2B1 (S931R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328254	NM_000528.4(MAN2B1):c.2785C>T (p.Arg929Cys)	MAN2B1 (R929C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 890571	NM_000528.4(MAN2B1):c.2731G>A (p.Glu911Lys)	LOC130063648, MAN2B1 (E910K +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328255	NM_000528.4(MAN2B1):c.2701C>A (p.His901Asn)	MAN2B1, LOC130063648 (H901N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891132	NM_000528.4(MAN2B1):c.2661G>A (p.Thr887=)	MAN2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328256	NM_000528.4(MAN2B1):c.2625C>T (p.Gly875=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328257	NM_000528.4(MAN2B1):c.2619G>A (p.Pro873=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328258	NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GBenign
Select item 328259	NM_000528.4(MAN2B1):c.2558C>T (p.Ala853Val)	MAN2B1 (A853V +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 891133	NM_000528.4(MAN2B1):c.2501C>T (p.Ser834Leu)	MAN2B1 (S834L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 891134	NM_000528.4(MAN2B1):c.2469C>T (p.Arg823=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 761009	NM_000528.4(MAN2B1):c.2437-5C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 547954	NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)	MAN2B1 (G801C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 892332	NM_000528.4(MAN2B1):c.2389C>T (p.Arg797Cys)	MAN2B1 (R796C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 892333	NM_000528.4(MAN2B1):c.2341C>T (p.Arg781Trp)	MAN2B1 (R781W +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328260	NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=)	MAN2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 790750	NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GBenign/Likely benign
Select item 892334	NM_000528.4(MAN2B1):c.2268-11C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 290029	NM_000528.4(MAN2B1):c.2267+8dup	MAN2B1	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 328261	NM_000528.4(MAN2B1):c.2267+3G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase +1 more	GBenign
Select item 328262	NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)	MAN2B1 (E754K +1 more)	Single nucleotide variant (missense variant)	MAN2B1-related condition +3 more	GConflicting classifications of pathogenicity
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 235571	NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg)	MAN2B1 (G741R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 888937	NM_000528.4(MAN2B1):c.2167G>A (p.Asp723Asn)	MAN2B1 (D722N +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 888938	NM_000528.4(MAN2B1):c.2145G>A (p.Ser715=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 888939	NM_000528.4(MAN2B1):c.2104C>T (p.Arg702Cys)	MAN2B1 (R701C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328263	NM_000528.4(MAN2B1):c.2047-5C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 734519	NM_000528.4(MAN2B1):c.2007G>A (p.Pro669=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 218459	NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu)	MAN2B1 (P669L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 328264	NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GBenign
Select item 890634	NM_000528.4(MAN2B1):c.1913G>C (p.Arg638Pro)	MAN2B1 (R637P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 712788	NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly)	MAN2B1 (D616G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328265	NM_000528.4(MAN2B1):c.1845G>A (p.Thr615=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 450771	NM_000528.4(MAN2B1):c.1838G>A (p.Arg613Gln)	MAN2B1 (R613Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 451935	NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys)	MAN2B1 (E608K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 457139	NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu)	MAN2B1 (Q582E +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GBenign
Select item 716707	NM_000528.4(MAN2B1):c.1713C>T (p.Pro571=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328266	NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)	MAN2B1 (D556E +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 328267	NM_000528.4(MAN2B1):c.1587G>T (p.Pro529=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 558860	NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=)	MAN2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 891186	NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)	MAN2B1 (V522M +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 785313	NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=)	MAN2B1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 328268	NM_000528.4(MAN2B1):c.1503C>A (p.Cys501Ter)	MAN2B1 (C501* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 891187	NM_000528.4(MAN2B1):c.1453G>A (p.Gly485Ser)	MAN2B1 (G484S +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 93210	NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser)	MAN2B1 (A481S +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GBenign
Select item 527128	NM_000528.4(MAN2B1):c.1437G>T (p.Ala479=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328269	NM_000528.4(MAN2B1):c.1435G>T (p.Ala479Ser)	MAN2B1 (A479S +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 892388	NM_000528.4(MAN2B1):c.1419+5G>T	LOC129391064, MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328270	NM_000528.4(MAN2B1):c.1398G>A (p.Ala466=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 782166	NM_000528.4(MAN2B1):c.1383C>T (p.Tyr461=)	LOC129391064, MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
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 328271	NM_000528.4(MAN2B1):c.1273G>T (p.Val425Leu)	MAN2B1 (V425L +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 129584	NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)	MAN2B1 (N413S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 892389	NM_000528.4(MAN2B1):c.1231-13C>T	MAN2B1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 723853	NM_000528.4(MAN2B1):c.1230+9G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328272	NM_000528.4(MAN2B1):c.1179C>T (p.Ser393=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 751916	NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 786566	NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 328273	NM_000528.4(MAN2B1):c.1131C>T (p.Phe377=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 457138	NM_000528.4(MAN2B1):c.1110-8C>T	MAN2B1	Single nucleotide variant (intron variant)	MAN2B1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 888991	NM_000528.4(MAN2B1):c.1110-15C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 888992	NM_000528.4(MAN2B1):c.1068C>T (p.Pro356=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 328274	NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=)	MAN2B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 888993	NM_000528.4(MAN2B1):c.1026+8C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 93207	NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)	MAN2B1 (R337Q)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GBenign
Select item 93218	NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)	MAN2B1 (T312I)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GBenign
Select item 632303	NM_000528.4(MAN2B1):c.856G>A (p.Glu286Lys)	MAN2B1 (E286K)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 328275	NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 558862	NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser)	MAN2B1 (P282S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328276	NM_000528.4(MAN2B1):c.843C>T (p.Asp281=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 93217	NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)	MAN2B1 (L278V)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GBenign
Select item 889680	NM_000528.4(MAN2B1):c.762T>C (p.Thr254=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 712406	NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser)	MAN2B1 (A250S)	Single nucleotide variant (missense variant)	MAN2B1-related condition +1 more	GBenign
Select item 197683	NM_000528.4(MAN2B1):c.747C>T (p.Thr249=)	MAN2B1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 716717	NM_000528.4(MAN2B1):c.744G>A (p.Pro248=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 197684	NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)	MAN2B1 (P248L)	Single nucleotide variant (missense variant)	MAN2B1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 328277	NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln)	MAN2B1 (R240Q)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GBenign/Likely benign
Select item 328278	NM_000528.4(MAN2B1):c.639C>T (p.Phe213=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 328279	NM_000528.4(MAN2B1):c.630+12G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GBenign/Likely benign
Select item 891241	NM_000528.4(MAN2B1):c.630+6A>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 328280	NM_000528.4(MAN2B1):c.597C>T (p.Gly199=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 785786	NM_000528.4(MAN2B1):c.594C>T (p.Phe198=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GBenign
Select item 892432	NM_000528.4(MAN2B1):c.565C>A (p.Pro189Thr)	MAN2B1 (P189T)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 786791	NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)	MAN2B1 (N152S)	Single nucleotide variant (missense variant)	MAN2B1-related condition +2 more	GConflicting classifications of pathogenicity
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
Select item 328282	NM_000528.4(MAN2B1):c.285C>T (p.Ala95=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity

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