C0024748[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 983954	NM_000528.4(MAN2B1):c.2731G>T (p.Glu911Ter)	LOC130063648, MAN2B1 (E910* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 983955	NM_000528.4(MAN2B1):c.2723G>A (p.Trp908Ter)	LOC130063648, MAN2B1 (W907* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725414	NM_000528.4(MAN2B1):c.2636_2637insTCCCAACT (p.Asn880fs)	MAN2B1 (N879fs +1 more)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725974	NM_000528.4(MAN2B1):c.2602_2612del (p.Gln868fs)	MAN2B1 (Q867fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726511	NM_000528.4(MAN2B1):c.2607_2608insTATAAGAGACAGT (p.Val870fs)	MAN2B1 (V869fs +1 more)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1724540	NM_000528.4(MAN2B1):c.2600del (p.Pro867fs)	MAN2B1 (P866fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726038	NM_000528.4(MAN2B1):c.2492_2499del (p.Glu831fs)	MAN2B1 (E830fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726253	NM_000528.4(MAN2B1):c.2445_2447delinsT (p.Arg816fs)	MAN2B1 (R815fs +1 more)	Indel (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726337	NM_000528.4(MAN2B1):c.2294_2295del (p.Leu765fs)	MAN2B1 (L764fs +1 more)	Deletion (frameshift 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 1726262	NM_000528.4(MAN2B1):c.2199del (p.Phe733fs)	MAN2B1 (F732fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 983956	NM_000528.4(MAN2B1):c.2174G>A (p.Trp725Ter)	MAN2B1 (W724* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 208284	NM_000528.4(MAN2B1):c.2140T>C (p.Trp714Arg)	MAN2B1 (W714R +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984114	NM_000528.4(MAN2B1):c.2091T>A (p.Cys697Ter)	MAN2B1 (C696* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984115	NM_000528.4(MAN2B1):c.2071C>T (p.Gln691Ter)	MAN2B1 (Q690* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984116	NM_000528.4(MAN2B1):c.2044A>T (p.Lys682Ter)	MAN2B1 (K681* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984117	NM_000528.4(MAN2B1):c.2025G>A (p.Trp675Ter)	MAN2B1 (W674* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984118	NM_000528.4(MAN2B1):c.2002A>T (p.Lys668Ter)	MAN2B1 (K667* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725973	NM_000528.4(MAN2B1):c.1996C>T (p.Gln666Ter)	MAN2B1 (Q665* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725653	NM_000528.4(MAN2B1):c.1986_1987del (p.Phe662fs)	MAN2B1 (F661fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 837291	NM_000528.4(MAN2B1):c.1954G>T (p.Glu652Ter)	MAN2B1 (E651* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1725677	NM_000528.4(MAN2B1):c.1889delinsCAC (p.Asn630fs)	MAN2B1 (N629fs +1 more)	Indel (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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 984119	NM_000528.4(MAN2B1):c.1803G>A (p.Trp601Ter)	MAN2B1 (W600* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726922	NM_000528.4(MAN2B1):c.1795A>T (p.Arg599Ter)	MAN2B1 (R598* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725644	NM_000528.4(MAN2B1):c.1795del (p.Arg599fs)	MAN2B1 (R598fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984120	NM_000528.4(MAN2B1):c.1736C>G (p.Ser579Ter)	MAN2B1 (S578* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1724202	NM_000528.4(MAN2B1):c.1724_1734delinsA (p.Phe575fs)	MAN2B1 (F574fs +1 more)	Indel (frameshift variant)	Deficiency of alpha-mannosidase	GLikely 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 1725195	NM_000528.4(MAN2B1):c.1638del (p.Ser547fs)	MAN2B1 (S546fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984237	NM_000528.4(MAN2B1):c.1545T>A (p.Tyr515Ter)	MAN2B1 (Y514* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984238	NM_000528.4(MAN2B1):c.1483C>T (p.Gln495Ter)	MAN2B1 (Q494* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1724931	NM_000528.4(MAN2B1):c.1454del (p.Gly485fs)	MAN2B1 (G484fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984239	NM_000528.4(MAN2B1):c.1450A>T (p.Arg484Ter)	MAN2B1 (R483* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984240	NM_000528.4(MAN2B1):c.1406G>A (p.Trp469Ter)	LOC129391064, MAN2B1 (W468* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984241	NM_000528.4(MAN2B1):c.1363C>T (p.Gln455Ter)	LOC129391064, MAN2B1 (Q454* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
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 1724996	NM_000528.4(MAN2B1):c.1236C>A (p.Cys412Ter)	MAN2B1 (C411* +1 more)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726200	NM_000528.4(MAN2B1):c.1144del (p.Asp382fs)	MAN2B1 (D381fs +1 more)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725804	NM_000528.4(MAN2B1):c.1139_1141delinsT (p.Tyr380fs)	MAN2B1 (Y379fs +1 more)	Indel (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726288	NM_000528.4(MAN2B1):c.969del (p.Asn324fs)	MAN2B1 (N324fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984242	NM_000528.4(MAN2B1):c.953C>A (p.Ser318Ter)	MAN2B1 (S318*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725922	NM_000528.4(MAN2B1):c.872_875dup (p.Val293fs)	MAN2B1 (V293fs)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984243	NM_000528.4(MAN2B1):c.807G>A (p.Trp269Ter)	MAN2B1 (W269*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1724103	NM_000528.4(MAN2B1):c.739_740insTAAAGAT (p.Pro247fs)	MAN2B1 (P247fs)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1725117	NM_000528.4(MAN2B1):c.645_646insAG (p.Phe216fs)	MAN2B1 (F216fs)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726537	NM_000528.4(MAN2B1):c.628C>T (p.Gln210Ter)	MAN2B1 (Q210*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 984244	NM_000528.4(MAN2B1):c.495C>A (p.Tyr165Ter)	MAN2B1 (Y165*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1726084	NM_000528.4(MAN2B1):c.440del (p.Arg147fs)	MAN2B1 (R147fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 1726970	NM_000528.4(MAN2B1):c.414del (p.Val139fs)	MAN2B1 (V139fs)	Deletion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic
Select item 983676	NM_000528.4(MAN2B1):c.292C>T (p.Gln98Ter)	MAN2B1 (Q98*)	Single nucleotide variant (nonsense)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 1724303	NM_000528.4(MAN2B1):c.201_202insTGTACACATTT (p.Leu68fs)	MAN2B1 (L68fs)	Insertion (frameshift variant)	Deficiency of alpha-mannosidase	GLikely pathogenic

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Items: 53