"PreventionGenetics, part of Exact Sciences"[submitter] AND "MAN2B1"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 749278	NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys)	MAN2B1 (R961C +1 more)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GBenign/Likely benign
Select item 370914	NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)	MAN2B1 (V934fs +1 more)	Duplication (frameshift variant)	Deficiency of alpha-mannosidase +1 more	GPathogenic/Likely pathogenic
Select item 764269	NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related disorder +1 more	GBenign/Likely benign
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 513672	NM_000528.4(MAN2B1):c.2355+5C>G	MAN2B1	Single nucleotide variant (intron variant)	Deficiency of alpha-mannosidase +2 more	GConflicting classifications of pathogenicity
Select item 328262	NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys)	MAN2B1 (E754K +1 more)	Single nucleotide variant (missense variant)	MAN2B1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2702466	NM_000528.4(MAN2B1):c.2256C>T (p.Ile752=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related disorder +1 more	GLikely benign
Select item 286664	NM_000528.4(MAN2B1):c.1928+10G>C	MAN2B1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2083620	NM_000528.4(MAN2B1):c.1830+3G>T	MAN2B1	Single nucleotide variant (intron 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)	Deficiency of alpha-mannosidase +2 more	GConflicting classifications of pathogenicity
Select item 1135029	NM_000528.4(MAN2B1):c.1677G>A (p.Ala559=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase +1 more	GLikely benign
Select item 129584	NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser)	MAN2B1 (N413S +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 751916	NM_000528.4(MAN2B1):c.1167C>T (p.Thr389=)	MAN2B1	Single nucleotide variant (synonymous variant)	Deficiency of alpha-mannosidase +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 disorder +1 more	GConflicting classifications of pathogenicity
Select item 457138	NM_000528.4(MAN2B1):c.1110-8C>T	MAN2B1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 93207	NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln)	MAN2B1 (R337Q)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 93218	NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile)	MAN2B1 (T312I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 328275	NM_000528.4(MAN2B1):c.855C>T (p.Pro285=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related disorder +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)	Deficiency of alpha-mannosidase +2 more	GConflicting classifications of pathogenicity
Select item 93217	NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val)	MAN2B1 (L278V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 712406	NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser)	MAN2B1 (A250S)	Single nucleotide variant (missense variant)	Deficiency of alpha-mannosidase +1 more	GBenign
Select item 197684	NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu)	MAN2B1 (P248L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3031063	NM_000528.4(MAN2B1):c.645C>T (p.Gly215=)	MAN2B1	Single nucleotide variant (synonymous variant)	MAN2B1-related disorder	GLikely benign
Select item 789112	NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp)	MAN2B1 (E203D)	Single nucleotide variant (missense variant)	MAN2B1-related disorder +1 more	GLikely benign
Select item 786791	NM_000528.4(MAN2B1):c.455A>G (p.Asn152Ser)	MAN2B1 (N152S)	Single nucleotide variant (missense variant)	MAN2B1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 789665	NM_000528.4(MAN2B1):c.419G>A (p.Arg140Gln)	MAN2B1 (R140Q)	Single nucleotide variant (missense variant)	MAN2B1-related disorder +1 more	GLikely benign

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Items: 26