C0017925[trait identifier] AND "Neuberg Centre For Genomic Medicine, N - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671688	NM_002863.5(PYGL):c.2178-8_2178-7insT	PYGL	Insertion (intron variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 1685053	NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)	PYGL (G657R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI +1 more	GUncertain significance
Select item 655030	NM_002863.5(PYGL):c.2071G>C (p.Gly691Arg)	PYGL (G657R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GPathogenic/Likely pathogenic
Select item 2664176	NM_002863.5(PYGL):c.1722C>A (p.Tyr574Ter)	PYGL (Y540* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 998110	NM_002863.5(PYGL):c.1620+1G>C	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 2584882	NM_002863.5(PYGL):c.1286T>A (p.Met429Lys)	PYGL (M429K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2584811	NM_002863.5(PYGL):c.916C>T (p.Gln306Ter)	PYGL (Q272* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 2627506	NM_002863.5(PYGL):c.715_716del (p.Val239fs)	PYGL (V205fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic
Select item 1060734	NM_002863.5(PYGL):c.637G>A (p.Gly213Arg)	PYGL (G179R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease, type VI	GUncertain significance
Select item 2627510	NM_002863.5(PYGL):c.528+1G>A	PYGL	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VI	GPathogenic
Select item 2584825	NM_002863.5(PYGL):c.407dup (p.Leu137fs)	PYGL (L103fs +1 more)	Duplication (frameshift variant)	Glycogen storage disease, type VI	GLikely pathogenic