"Ambry Genetics"[submitter] AND "MAN2B1"[gene] - ClinVar

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Items: 54

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2183885	NM_000528.4(MAN2B1):c.3004G>A (p.Ala1002Thr)	MAN2B1 (A1002T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2161453	NM_000528.4(MAN2B1):c.2870T>C (p.Val957Ala)	MAN2B1 (V957A +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 644216	NM_000528.4(MAN2B1):c.2767G>A (p.Val923Ile)	MAN2B1 (V923I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2605381	NM_000528.4(MAN2B1):c.2636A>G (p.Tyr879Cys)	MAN2B1 (Y878C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2057122	NM_000528.4(MAN2B1):c.2620G>C (p.Gly874Arg)	MAN2B1 (G874R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1391142	NM_000528.4(MAN2B1):c.2561C>T (p.Ala854Val)	MAN2B1 (A853V +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 2520145	NM_000528.4(MAN2B1):c.2512G>A (p.Val838Met)	MAN2B1 (V837M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1403756	NM_000528.4(MAN2B1):c.2489T>C (p.Met830Thr)	MAN2B1 (M829T +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 2304155	NM_000528.4(MAN2B1):c.2459A>T (p.Asp820Val)	MAN2B1 (D819V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 547954	NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys)	MAN2B1 (G801C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GUncertain significance
Select item 2230114	NM_000528.4(MAN2B1):c.2279G>A (p.Arg760Gln)	MAN2B1 (R760Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 520823	NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)	MAN2B1 (E737fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 1304299	NM_000528.4(MAN2B1):c.2207C>T (p.Pro736Leu)	MAN2B1 (P735L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2333082	NM_000528.4(MAN2B1):c.2182G>A (p.Glu728Lys)	MAN2B1 (E728K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2076838	NM_000528.4(MAN2B1):c.2122C>T (p.Arg708Trp)	MAN2B1 (R708W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2144057	NM_000528.4(MAN2B1):c.2097G>C (p.Gln699His)	MAN2B1 (Q698H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1423612	NM_000528.4(MAN2B1):c.2054T>C (p.Leu685Ser)	MAN2B1 (L685S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2147481	NM_000528.4(MAN2B1):c.2047A>G (p.Thr683Ala)	MAN2B1 (T682A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 21207	NM_000528.4(MAN2B1):c.1830+1G>C	MAN2B1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2170098	NM_000528.4(MAN2B1):c.1799C>A (p.Ser600Tyr)	MAN2B1 (S600Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2140387	NM_000528.4(MAN2B1):c.1772G>A (p.Arg591His)	MAN2B1 (R591H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 2173500	NM_000528.4(MAN2B1):c.1771C>T (p.Arg591Cys)	MAN2B1 (R591C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 328266	NM_000528.4(MAN2B1):c.1668C>A (p.Asp556Glu)	MAN2B1 (D556E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2149337	NM_000528.4(MAN2B1):c.1667A>C (p.Asp556Ala)	MAN2B1 (D556A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2201982	NM_000528.4(MAN2B1):c.1660A>G (p.Ser554Gly)	MAN2B1 (S553G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2330544	NM_000528.4(MAN2B1):c.1616A>C (p.Asp539Ala)	MAN2B1 (D538A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 891186	NM_000528.4(MAN2B1):c.1564G>A (p.Val522Met)	MAN2B1 (V522M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2515383	NM_000528.4(MAN2B1):c.1436C>T (p.Ala479Val)	MAN2B1 (A478V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1520442	NM_000528.4(MAN2B1):c.1417G>A (p.Glu473Lys)	LOC129391064, MAN2B1 (E472K +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 2229941	NM_000528.4(MAN2B1):c.1342G>T (p.Ala448Ser)	MAN2B1 (A448S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275478	NM_000528.4(MAN2B1):c.1231-6C>T	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase +1 more	GConflicting classifications of pathogenicity
Select item 2538983	NM_000528.4(MAN2B1):c.1154A>G (p.His385Arg)	MAN2B1 (H385R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2555740	NM_000528.4(MAN2B1):c.1043G>A (p.Ser348Asn)	MAN2B1 (S347N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461093	NM_000528.4(MAN2B1):c.976A>G (p.Asn326Asp)	MAN2B1 (N326D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2189703	NM_000528.4(MAN2B1):c.923G>A (p.Arg308His)	MAN2B1 (R308H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1410243	NM_000528.4(MAN2B1):c.922C>T (p.Arg308Cys)	MAN2B1 (R308C)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +2 more	GUncertain significance
Select item 2193728	NM_000528.4(MAN2B1):c.899C>T (p.Ala300Val)	MAN2B1 (A300V)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GUncertain significance
Select item 2243105	NM_000528.4(MAN2B1):c.779G>A (p.Gly260Asp)	MAN2B1 (G260D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1984530	NM_000528.4(MAN2B1):c.665A>G (p.Asp222Gly)	MAN2B1 (D222G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235696	NM_000528.4(MAN2B1):c.643G>A (p.Gly215Ser)	MAN2B1 (G215S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1961533	NM_000528.4(MAN2B1):c.640G>C (p.Asp214His)	MAN2B1 (D214H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 891241	NM_000528.4(MAN2B1):c.630+6A>T	MAN2B1	Single nucleotide variant (intron variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2230076	NM_000528.4(MAN2B1):c.604C>T (p.Arg202Trp)	MAN2B1 (R202W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208254	NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)	MAN2B1 (P197R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely pathogenic
Select item 2238936	NM_000528.4(MAN2B1):c.538G>A (p.Glu180Lys)	MAN2B1 (E180K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1697051	NM_000528.4(MAN2B1):c.516G>A (p.Met172Ile)	MAN2B1 (M172I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2201769	NM_000528.4(MAN2B1):c.422A>T (p.Asp141Val)	MAN2B1 (D141V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 808457	NM_000528.4(MAN2B1):c.179C>T (p.Pro60Leu)	MAN2B1 (P60L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 632304	NM_000528.4(MAN2B1):c.65G>A (p.Trp22Ter)	LOC130063650, MAN2B1 (W22*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2061916	NM_000528.4(MAN2B1):c.7G>A (p.Ala3Thr)	LOC130063650, MAN2B1 (A3T)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	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

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Items: 54