"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "MANBA"[gene] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 347076	NM_005908.4(MANBA):c.*8T>G	MANBA	Single nucleotide variant (3 prime UTR variant)	Beta-D-mannosidosis	GUncertain significance
Select item 347077	NM_005908.4(MANBA):c.2482G>A (p.Val828Ile)	MANBA (V828I)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +1 more	GBenign/Likely benign
Select item 403070	NM_005908.4(MANBA):c.2416-10del	MANBA	Deletion (intron variant)	Beta-D-mannosidosis +2 more	GBenign
Select item 95320	NM_005908.4(MANBA):c.2368T>C (p.Leu790=)	MANBA	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 347083	NM_005908.4(MANBA):c.2296C>T (p.Arg766Trp)	MANBA (R766W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 95319	NM_005908.4(MANBA):c.2102C>T (p.Thr701Met)	MANBA (T701M)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +2 more	GBenign
Select item 95318	NM_005908.4(MANBA):c.2015-28G>A	MANBA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 347088	NM_005908.4(MANBA):c.1705-13C>A	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis +1 more	GBenign
Select item 347087	NM_005908.4(MANBA):c.1705-13C>T	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis +1 more	GBenign/Likely benign
Select item 558950	NM_005908.4(MANBA):c.1485+23G>A	MANBA	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 347091	NM_005908.4(MANBA):c.1482G>T (p.Leu494=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis +1 more	GBenign
Select item 347095	NM_005908.4(MANBA):c.831A>G (p.Leu277=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis +1 more	GBenign
Select item 347096	NM_005908.4(MANBA):c.757G>A (p.Val253Ile)	MANBA (V253I)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +2 more	GBenign/Likely benign
Select item 558951	NM_005908.4(MANBA):c.731C>G (p.Ser244Ter)	MANBA (S244*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis	GPathogenic
Select item 347099	NM_005908.4(MANBA):c.315G>A (p.Thr105=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis +1 more	GBenign
Select item 347100	NM_005908.4(MANBA):c.178-8A>G	MANBA	Single nucleotide variant (intron variant)	Beta-D-mannosidosis +1 more	GBenign/Likely benign
Select item 558952	NM_005908.4(MANBA):c.177+26G>A	LOC129992886, MANBA	Single nucleotide variant (intron variant)	not provided	GLikely benign