C0024748[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 649913	NM_000528.4(MAN2B1):c.2966A>G (p.Asn989Ser)	MAN2B1 (N989S +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 1372339	NM_000528.4(MAN2B1):c.2920dup (p.Thr974fs)	MAN2B1 (T974fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
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 208279	NM_000528.4(MAN2B1):c.2849G>C (p.Arg950Pro)	MAN2B1 (R950P +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
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 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 328261	NM_000528.4(MAN2B1):c.2267+3G>C	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase +1 more	GBenign
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 967380	NM_000528.4(MAN2B1):c.2194C>T (p.Arg732Cys)	MAN2B1 (R731C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1362079	NM_000528.4(MAN2B1):c.2020C>T (p.Arg674Cys)	MAN2B1 (R673C +1 more)	Single nucleotide variant (missense 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 21207	NM_000528.4(MAN2B1):c.1830+1G>C	MAN2B1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +2 more	GPathogenic
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 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 1323267	NM_000528.4(MAN2B1):c.1528-1G>A	MAN2B1	Single nucleotide variant (splice acceptor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 208270	NM_000528.4(MAN2B1):c.1501T>A (p.Cys501Ser)	MAN2B1 (C501S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1436139	NM_000528.4(MAN2B1):c.1309A>G (p.Asn437Asp)	MAN2B1 (N437D +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 208264	NM_000528.4(MAN2B1):c.1259G>T (p.Gly420Val)	MAN2B1 (G420V +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GConflicting classifications of pathogenicity
Select item 208283	NM_000528.4(MAN2B1):c.1204G>A (p.Glu402Lys)	MAN2B1 (E402K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1343494	NM_000528.4(MAN2B1):c.1026+2T>G	MAN2B1	Single nucleotide variant (splice donor variant)	Deficiency of alpha-mannosidase	GPathogenic/Likely pathogenic
Select item 235747	NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn)	MAN2B1 (T312N)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GBenign/Likely benign
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 208257	NM_000528.4(MAN2B1):c.605G>C (p.Arg202Pro)	MAN2B1 (R202P)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 990085	NM_000528.4(MAN2B1):c.439C>T (p.Arg147Cys)	MAN2B1 (R147C)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 1369850	NM_000528.4(MAN2B1):c.218A>G (p.Asp73Gly)	MAN2B1 (D73G)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase	GUncertain significance
Select item 328283	NM_000528.4(MAN2B1):c.135C>T (p.Ala45=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase	GBenign/Likely benign
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 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

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Items: 29