"MGZ Medical Genetics Center"[submitter] AND "GAA"[gene] - ClinVar - NCBI

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Items: 11

	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, type IV +6 more	GPathogenic/Likely pathogenic
Select item 4033	NM_000152.5(GAA):c.525del (p.Glu176fs)	GAA (E176fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 1709586	NM_000152.5(GAA):c.1106T>A (p.Leu369Gln)	GAA (L369Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 439746	NM_000152.5(GAA):c.1504A>G (p.Met502Val)	GAA (M502V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
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 189040	NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)	GAA (R702C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 456399	NM_000152.5(GAA):c.2284G>A (p.Glu762Lys)	GAA (E762K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance
Select item 578595	NM_000152.5(GAA):c.2662G>T (p.Glu888Ter)	GAA (E888*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 456414	NM_000152.5(GAA):c.2725G>A (p.Val909Met)	GAA (V909M)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 526531	NM_000152.5(GAA):c.2833G>C (p.Glu945Gln)	GAA (E945Q)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance