"Genome Diagnostics Laboratory, University Medical Center Utrecht"[sub - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4027	NM_000152.5(GAA):c.-32-13T>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease due to acid maltase deficiency, late-onset +6 more	GPathogenic/Likely pathogenic
Select item 92484	NM_000152.5(GAA):c.324T>C (p.Cys108=)	CCDC40, GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 129121	NM_000152.5(GAA):c.447G>A (p.Thr149=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GBenign/Likely benign
Select item 255363	NM_000152.5(GAA):c.547-39T>G	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92485	NM_000152.5(GAA):c.547-4C>G	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92486	NM_000152.5(GAA):c.596A>G (p.His199Arg)	GAA (H199R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +3 more	GBenign
Select item 92487	NM_000152.5(GAA):c.642C>T (p.Ser214=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 92488	NM_000152.5(GAA):c.668G>A (p.Arg223His)	GAA (R223H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 188477	NM_000152.5(GAA):c.852G>A (p.Ala284=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 370577	NM_000152.5(GAA):c.875A>G (p.Tyr292Cys)	GAA (Y292C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 92490	NM_000152.5(GAA):c.921A>T (p.Ala307=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 188797	NM_000152.5(GAA):c.925G>A (p.Gly309Arg)	GAA (G309R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92491	NM_000152.5(GAA):c.955+12G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 92460	NM_000152.5(GAA):c.1075+13C>T	GAA	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 370483	NM_000152.5(GAA):c.1115A>T (p.His372Leu)	GAA (H372L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198393	NM_000152.5(GAA):c.1194+3G>C	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 92461	NM_000152.5(GAA):c.1203G>A (p.Gln401=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92462	NM_000152.5(GAA):c.1327-18A>G	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 92463	NM_000152.5(GAA):c.1374C>T (p.Tyr458=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 92464	NM_000152.5(GAA):c.1438-19G>C	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 189025	NM_000152.5(GAA):c.1548G>A (p.Trp516Ter)	GAA (W516*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 255353	NM_000152.5(GAA):c.1552-13G>A	GAA	Single nucleotide variant (intron variant)	Glycogen storage disease, type II	GLikely benign FDA Recognized database
Select item 92466	NM_000152.5(GAA):c.1581G>A (p.Arg527=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 279811	NM_000152.5(GAA):c.1655T>C (p.Leu552Pro)	GAA (L552P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 982109	NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)	GAA (Q553*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic
Select item 92468	NM_000152.5(GAA):c.1754+12G>A	GAA	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 370130	NM_000152.5(GAA):c.1799G>A (p.Arg600His)	GAA (R600H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92470	NM_000152.5(GAA):c.2040+20A>G	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 4030	NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	GAA (E689K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II +2 more	GConflicting classifications of pathogenicity; other
Select item 426278	NM_000152.5(GAA):c.2105G>A (p.Arg702His)	GAA (R702H)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92473	NM_000152.5(GAA):c.2133A>G (p.Thr711=)	GAA	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GBenign
Select item 265160	NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)	GAA (W746C)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 371281	NM_000152.5(GAA):c.2331+2T>A	GAA	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 92474	NM_000152.5(GAA):c.2331+20G>A	GAA	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 92476	NM_000152.5(GAA):c.2338G>A (p.Val780Ile)	GAA (V780I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 92478	NM_000152.5(GAA):c.2481+16G>A	GAA	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 92481	NM_000152.5(GAA):c.2553G>A (p.Gly851=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GBenign FDA Recognized database
Select item 4034	NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)	GAA (R854*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 189009	NM_000152.5(GAA):c.2608C>T (p.Arg870Ter)	GAA (R870*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 92482	NM_000152.5(GAA):c.2780C>T (p.Thr927Ile)	GAA (T927I)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GBenign FDA Recognized database

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Items: 40