Related gene-specific medical variations for Gene (Select 5836) - ClinVar

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Links from Gene

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065459	NM_002863.5(PYGL):c.1902_1914dup (p.Ser639fs)	PYGL (S605fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 3064706	NM_002863.5(PYGL):c.1240-2A>G	PYGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 3064702	NM_002863.5(PYGL):c.1220dup (p.Asn408fs)	PYGL (N374fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 3024734	NM_001206673.2(ABHD12B):c.486+1G>T	ABHD12B, PYGL	Single nucleotide variant (splice donor variant)	not provided	GBenign
Select item 2689848	NM_002863.5(PYGL):c.2446C>T (p.Arg816Ter)	PYGL (R782* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GUncertain significance
Select item 2442209	NM_002863.5(PYGL):c.1099G>A (p.Glu367Lys)	PYGL (E333K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2432902	NM_002863.5(PYGL):c.361G>T (p.Glu121Ter)	PYGL (E121* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 1711371	NC_000014.9:g.50858108A>T	PYGL	Single nucleotide variant	not provided	GUncertain significance
Select item 1319173	NM_002863.5(PYGL):c.1518+1del	PYGL	Deletion (splice donor variant)	not provided	GPathogenic
Select item 932090	NM_002863.5(PYGL):c.2177+2T>C	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 548489	NM_002863.5(PYGL):c.298_307del (p.Met100fs)	PYGL (M100fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VI	GPathogenic
Select item 258848	NM_002863.5(PYGL):c.773-31T>C	PYGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258842	NM_002863.5(PYGL):c.244-34G>A	PYGL	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 258837	NM_002863.5(PYGL):c.2177+34T>C	PYGL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 258833	NM_002863.5(PYGL):c.1536T>C (p.Tyr512=)	PYGL	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 50886	NM_002863.5(PYGL):c.1964_1969inv (p.Glu655_Val657delinsAlaPhePhe)	PYGL	Inversion (missense variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 50885	NM_002863.5(PYGL):c.1969+1_1969+4del	PYGL	Deletion (splice donor variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 21336	NM_002863.5(PYGL):c.2461T>C (p.Tyr821His)	PYGL (Y821H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	Gnot provided
Select item 21333	NM_002863.5(PYGL):c.2023T>A (p.Ser675Thr)	PYGL (S675T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	Gnot provided
Select item 21330	NM_002863.5(PYGL):c.1895A>T (p.Asn632Ile)	PYGL (N632I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	Gnot provided

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Links from Gene

Items: 20