C0017922[trait identifier] AND "Genome Diagnostics Laboratory, Univers - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File

Search results

Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1206245	NM_000642.3(AGL):c.82+1565T>G	AGL (I7S)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease type III +1 more	GBenign/Likely benign
Select item 256719	NM_000642.3(AGL):c.1155G>T (p.Lys385Asn)	AGL (K385N +3 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 256731	NM_000642.3(AGL):c.2883A>G (p.Arg961=)	AGL	Single nucleotide variant (synonymous variant)	Glycogen storage disease type III +2 more	GBenign/Likely benign
Select item 256739	NM_000642.3(AGL):c.3384G>A (p.Ala1128=)	AGL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

Display options Sort by Location Download

Format

Tabular
Tabular (text)
UI List

Sort by

Location
Relevance
Gene
Variation

Choose Destination

File