ClinVar for PubMed (Select 31254424) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2843290	NM_000152.5(GAA):c.1697C>T (p.Ser566Phe)	GAA (S566F)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic
Select item 2683630	NM_000152.5(GAA):c.742del (p.Leu248fs)	GAA (L248fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1804653	NC_000017.10:g.(78082407_78082495)_(78087166_78090766)del	GAA	Deletion	Glycogen storage disease, type II	GPathogenic
Select item 1493530	NM_000152.5(GAA):c.923A>C (p.His308Pro)	GAA (H308P)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GPathogenic
Select item 982296	NM_000152.5(GAA):c.546+2_546+5del	GAA	Deletion (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 972791	NM_000152.5(GAA):c.743T>C (p.Leu248Pro)	GAA (L248P)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 972761	NM_000152.5(GAA):c.1441del (p.Trp481fs)	GAA (W481fs)	Deletion (frameshift variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 972746	NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)	GAA (P522S)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 932896	NM_000152.5(GAA):c.1962_1964del (p.Glu656del)	GAA (E656del)	Deletion (inframe_deletion)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 853124	NM_000152.5(GAA):c.1650dup (p.Thr551fs)	GAA (T551fs)	Duplication (frameshift variant)	Glycogen storage disease, type II +1 more	GPathogenic/Likely pathogenic
Select item 555153	NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)	GAA (N570K)	Single nucleotide variant (missense variant)	Glycogen storage disease, type II	GLikely pathogenic FDA Recognized database
Select item 499293	NM_000152.5(GAA):c.2236T>C (p.Trp746Arg)	GAA (W746R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370552	NM_000152.5(GAA):c.2185del (p.Leu729fs)	GAA (L729fs)	Deletion (frameshift variant)	Glycogen storage disease, type II	GPathogenic FDA Recognized database
Select item 370357	NM_000152.5(GAA):c.1687C>T (p.Gln563Ter)	GAA (Q563*)	Single nucleotide variant (nonsense)	Glycogen storage disease, type II	GPathogenic FDA Recognized database