"PreventionGenetics, part of Exact Sciences"[submitter] AND "MANBA"[ge - ClinVar

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Items: 21

	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)	MANBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 347084	NM_005908.4(MANBA):c.2246T>A (p.Leu749His)	MANBA (L749H)	Single nucleotide variant (missense variant)	MANBA-related disorder +1 more	GBenign/Likely benign
Select item 779672	NM_005908.4(MANBA):c.2191G>A (p.Val731Met)	MANBA (V731M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1028960	NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe)	MANBA (S727F)	Single nucleotide variant (missense variant)	MANBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 901951	NM_005908.4(MANBA):c.1921C>T (p.Arg641Cys)	MANBA (R641C)	Single nucleotide variant (missense variant)	MANBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2197738	NM_005908.4(MANBA):c.1838G>T (p.Arg613Leu)	MANBA (R613L)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +1 more	GUncertain significance
Select item 2636760	NM_005908.4(MANBA):c.1623G>A (p.Trp541Ter)	MANBA (W541*)	Single nucleotide variant (nonsense)	MANBA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 594436	NM_005908.4(MANBA):c.1622G>A (p.Trp541Ter)	MANBA (W541*)	Single nucleotide variant (nonsense)	Beta-D-mannosidosis +2 more	GPathogenic/Likely pathogenic
Select item 347091	NM_005908.4(MANBA):c.1482G>T (p.Leu494=)	MANBA	Single nucleotide variant (synonymous variant)	MANBA-related disorder +2 more	GBenign
Select item 1572406	NM_005908.4(MANBA):c.1302A>G (p.Ala434=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis +1 more	GLikely benign
Select item 791001	NM_005908.4(MANBA):c.1254C>G (p.Ala418=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis +1 more	GBenign/Likely benign
Select item 715393	NM_005908.4(MANBA):c.961G>T (p.Val321Phe)	MANBA (V321F)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +2 more	GLikely benign
Select item 1109889	NM_005908.4(MANBA):c.792C>T (p.Tyr264=)	MANBA	Single nucleotide variant (synonymous variant)	Beta-D-mannosidosis +1 more	GLikely benign
Select item 3051936	NM_005908.4(MANBA):c.674-5T>G	MANBA	Single nucleotide variant (intron variant)	MANBA-related disorder	GLikely benign
Select item 347098	NM_005908.4(MANBA):c.479G>A (p.Arg160His)	MANBA (R160H)	Single nucleotide variant (missense variant)	MANBA-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 790006	NM_005908.4(MANBA):c.478C>T (p.Arg160Cys)	MANBA (R160C)	Single nucleotide variant (missense variant)	Beta-D-mannosidosis +2 more	GBenign/Likely benign
Select item 2731202	NM_005908.4(MANBA):c.397G>A (p.Val133Met)	MANBA (V133M)	Single nucleotide variant (missense variant)	MANBA-related disorder +1 more	GLikely benign
Select item 2067694	NM_005908.4(MANBA):c.273-3del	MANBA	Deletion (intron variant)	MANBA-related disorder +1 more	GBenign/Likely benign
Select item 2631182	NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGAACCCATCTG (p.Arg71delinsLeuTer)	MANBA	Indel (nonsense)	MANBA-related disorder	GLikely pathogenic
Select item 2630933	NM_005908.4(MANBA):c.210_213delinsTCTGTAGTTAAGAGACCCATCTG (p.Arg71delinsLeuTer)	MANBA	Indel (nonsense)	MANBA-related disorder	GLikely pathogenic
Select item 2803414	NM_005908.4(MANBA):c.51C>A (p.Thr17=)	LOC129992886, MANBA	Single nucleotide variant (synonymous variant)	MANBA-related disorder +1 more	GLikely benign

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Items: 21