"OMIM"[submitter] AND "GAA"[gene] - ClinVar - NCBI

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Items: 18

	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 II	GPathogenic FDA Recognized database
Select item 4020	NM_000152.5(GAA):c.271G>A (p.Asp91Asn)	GAA (D91N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GBenign/Likely benign; other
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 4035	NM_000152.5(GAA):c.710C>T (p.Ala237Val)	GAA (A237V)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GUncertain significance FDA Recognized database
Select item 4036	NM_000152.5(GAA):c.877G>A (p.Gly293Arg)	GAA (G293R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4025	NM_000152.5(GAA):c.896T>G (p.Leu299Arg)	GAA (L299R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 4021	NM_000152.5(GAA):c.953T>C (p.Met318Thr)	GAA (M318T)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 551193	NM_000152.5(GAA):c.1076-1G>A	GAA	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 4022	NM_000152.5(GAA):c.1561G>A (p.Glu521Lys)	GAA (E521K)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 4026	NM_000152.5(GAA):c.1585_1586delinsGT (p.Ser529Val)	GAA (S529V)	Indel (missense variant)	Glycogen storage disease II, adult form	GPathogenic
Select item 4032	NM_000152.5(GAA):c.1634C>T (p.Pro545Leu)	GAA (P545L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 4023	NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)	GAA (G643R)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4029	NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)	GAA (D645E)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4030	NM_000152.3(GAA):c.2065G>A (p.Glu689Lys)	GAA (E689K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign; other
Select item 4024	NM_000152.5(GAA):c.2173C>T (p.Arg725Trp)	GAA (R725W)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 4031	NM_000152.5(GAA):c.2483_2646+1del	GAA	Deletion (splice donor variant)	Glycogen storage disease, type II	GPathogenic
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 4028	NM_000152.5(GAA):c.2707_2709del (p.Lys903del)	GAA (K903del)	Deletion (inframe_deletion)	Glycogen storage disease, type II	GPathogenic