"GeneReviews"[submitter] AND "PYGL"[gene] - ClinVar - NCBI

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

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 21335	NM_002863.5(PYGL):c.2042A>C (p.Lys681Thr)	PYGL (K681T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 21334	NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)	PYGL (S675L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GLikely pathogenic
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 21332	NM_002863.5(PYGL):c.2017G>A (p.Glu673Lys)	PYGL (E673K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 38368	NM_002863.3(PYGL):c.[1964_1969invAAAAAG;1969+1_+4delGTAC]	PYGL	Deletion (splice donor variant +1 more)	Glycogen storage disease, type VI	GPathogenic
Select item 21331	NM_002863.5(PYGL):c.1900G>C (p.Asp634His)	PYGL (D634H +1 more)	Single nucleotide variant (missense variant)	PYGL-related condition +2 more	GConflicting classifications of pathogenicity
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
Select item 11992	NM_002863.5(PYGL):c.1768+1G>A	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 11996	NM_002863.5(PYGL):c.1620+1G>A	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 21329	NM_002863.5(PYGL):c.1471C>T (p.Arg491Cys)	PYGL (R491C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic
Select item 21328	NM_002863.5(PYGL):c.1366G>A (p.Val456Met)	PYGL (V456M +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic
Select item 21327	NM_002863.5(PYGL):c.1195C>T (p.Arg399Ter)	PYGL (R399* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 11995	NM_002863.5(PYGL):c.1131C>G (p.Asn377Lys)	PYGL (N377K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic
Select item 38367	NM_002863.5(PYGL):c.1016A>G (p.Asn339Ser)	PYGL (N339S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic
Select item 21339	NM_002863.5(PYGL):c.698G>A (p.Gly233Asp)	PYGL (G233D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic
Select item 11993	NM_002863.5(PYGL):c.529-1G>C	PYGL	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 21337	NM_002863.5(PYGL):c.280C>T (p.Arg94Ter)	PYGL (R94*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VI	GPathogenic
Select item 21338	NM_002863.5(PYGL):c.38A>C (p.Gln13Pro)	PYGL (Q13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance