"Counsyl"[submitter] AND "MAN2B1"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 551633	NM_000528.4(MAN2B1):c.2921_2922del (p.Thr974fs)	MAN2B1 (T974fs +1 more)	Microsatellite (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 370959	NM_000528.4(MAN2B1):c.2922del (p.Gly975fs)	MAN2B1 (G975fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 554495	NM_000528.4(MAN2B1):c.2885G>A (p.Arg962His)	MAN2B1 (R962H +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
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 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 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 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 555806	NM_000528.4(MAN2B1):c.2665-1G>C	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 371052	NM_000528.4(MAN2B1):c.2664+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 551484	NM_000528.4(MAN2B1):c.2484_2485insAAGCCA (p.Pro828_Leu829insLysPro)	MAN2B1	Insertion (inframe_insertion)	Deficiency of alpha-mannosidase	GUncertain significance
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 556664	NM_000528.4(MAN2B1):c.2436+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely 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 195465	NM_000528.4(MAN2B1):c.2402dup (p.Ser802fs)	MAN2B1 (S801fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase +1 more	GPathogenic/Likely pathogenic
Select item 208285	NM_000528.4(MAN2B1):c.2402G>A (p.Gly801Asp)	MAN2B1 (G801D +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 557076	NM_000528.4(MAN2B1):c.2355+33C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
Select item 554100	NM_000528.4(MAN2B1):c.2355G>A (p.Thr785=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 551140	NM_000528.4(MAN2B1):c.2299C>T (p.Gln767Ter)	MAN2B1 (Q767* +1 more)	Single nucleotide variant (nonsense)	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 556424	NM_000528.4(MAN2B1):c.2268-1G>C	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 552996	NM_000528.4(MAN2B1):c.2166-10_2166-2del	MAN2B1	Deletion (splice acceptor variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 554301	NM_000528.4(MAN2B1):c.2165+1del	MAN2B1	Deletion (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 553884	NM_000528.4(MAN2B1):c.2114del (p.Pro705fs)	MAN2B1 (P704fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 371303	NM_000528.4(MAN2B1):c.2047-1G>A	MAN2B1	Single nucleotide variant (splice acceptor 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 557350	NM_000528.4(MAN2B1):c.2046+1G>T	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
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 558498	NM_000528.4(MAN2B1):c.1922TCT[1] (p.Phe642del)	MAN2B1 (F642del +1 more)	Microsatellite (inframe_deletion)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 370172	NM_000528.4(MAN2B1):c.1851del (p.Pro618fs)	MAN2B1 (P618fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 21208	NM_000528.4(MAN2B1):c.1831-2A>G	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic
Select item 370399	NM_000528.4(MAN2B1):c.1774_1783del (p.Ala592fs)	MAN2B1 (A592fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
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 558627	NM_000528.4(MAN2B1):c.1645-2A>T	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 551897	NM_000528.4(MAN2B1):c.1583dup (p.Pro529fs)	MAN2B1 (P529fs +1 more)	Duplication (frameshift 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 558686	NM_000528.4(MAN2B1):c.1527+1G>C	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 371492	NM_000528.4(MAN2B1):c.1468_1472del (p.Phe490fs)	MAN2B1 (F490fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 551124	NM_000528.4(MAN2B1):c.1390C>T (p.Gln464Ter)	LOC129391064, MAN2B1 (Q464* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
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 557915	NM_000528.4(MAN2B1):c.1310-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 558399	NM_000528.4(MAN2B1):c.1308_1309+2del	MAN2B1	Deletion (splice donor variant)	Deficiency of alpha-mannosidase	GUncertain significance
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 370487	NM_000528.4(MAN2B1):c.1163G>A (p.Trp388Ter)	MAN2B1 (W388* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 550932	NM_000528.4(MAN2B1):c.1109+41C>A	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase	GLikely benign
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 553389	NM_000528.4(MAN2B1):c.1026+2T>C	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 550779	NM_000528.4(MAN2B1):c.784_786del (p.Asn262del)	MAN2B1 (N262del)	Deletion (inframe_deletion)	Deficiency of alpha-mannosidase	GUncertain significance
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 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 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 208253	NM_000528.4(MAN2B1):c.475G>A (p.Asp159Asn)	MAN2B1 (D159N)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 370681	NM_000528.4(MAN2B1):c.446del (p.Glu149fs)	MAN2B1 (E149fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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
Select item 370219	NM_000528.4(MAN2B1):c.277C>T (p.Gln93Ter)	MAN2B1 (Q93*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 553996	NM_000528.4(MAN2B1):c.231G>A (p.Trp77Ter)	MAN2B1 (W77*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 370454	NM_000528.4(MAN2B1):c.159+2T>C	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 552469	NM_000528.4(MAN2B1):c.159+1G>A	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 371058	NM_000528.4(MAN2B1):c.93dup (p.Leu32fs)	LOC130063650, MAN2B1 (L32fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 370845	NM_000528.4(MAN2B1):c.53_54insT (p.Ala19fs)	LOC130063650, MAN2B1 (A19fs)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 557661	NM_000528.4(MAN2B1):c.2T>C (p.Met1Thr)	LOC130063650, MAN2B1 (M1T)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 554992	NM_000528.4(MAN2B1):c.1_2del (p.Met1fs)	MAN2B1, LOC130063650 (M1fs)	Deletion (frameshift variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 554252	NM_000528.4(MAN2B1):c.2T>A (p.Met1Lys)	LOC130063650, MAN2B1 (M1K)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 552583	NM_000528.4(MAN2B1):c.1A>C (p.Met1Leu)	LOC130063650, MAN2B1 (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 552407	NM_000528.4(MAN2B1):c.1A>T (p.Met1Leu)	LOC130063650, MAN2B1 (M1L)	Single nucleotide variant (missense variant +1 more)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 552319	NM_000528.4(MAN2B1):c.1A>G (p.Met1Val)	LOC130063650, MAN2B1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 328284	NM_000528.4(MAN2B1):c.-19A>G	LOC130063650, MAN2B1	Single nucleotide variant (5 prime UTR variant)	Deficiency of alpha-mannosidase	GUncertain significance

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Items: 72