"Fulgent Genetics, Fulgent Genetics"[submitter] AND "PGK1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1217125	NM_000291.4(PGK1):c.44A>G (p.Lys15Arg)	PGK1 (K15R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1660405	NM_000291.4(PGK1):c.116+8C>T	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GLikely benign
Select item 1608202	NM_000291.4(PGK1):c.129T>C (p.Ala43=)	PGK1	Single nucleotide variant (synonymous variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 547849	NM_000291.4(PGK1):c.248T>C (p.Val83Ala)	PGK1 (V83A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 793409	NM_000291.4(PGK1):c.390G>A (p.Gly130=)	PGK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 725769	NM_000291.4(PGK1):c.539A>G (p.Asn180Ser)	PGK1 (N180S)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1578442	NM_000291.4(PGK1):c.642-20A>C	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 1693792	NM_000291.4(PGK1):c.761G>C (p.Gly254Ala)	PGK1 (G254A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 793410	NM_000291.4(PGK1):c.909G>C (p.Val303=)	PGK1	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 1488170	NM_000291.4(PGK1):c.929G>A (p.Gly310Asp)	PGK1 (G310D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558818	NM_000291.4(PGK1):c.937-17dup	PGK1	Duplication (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 1630793	NM_000291.4(PGK1):c.937-8C>T	PGK1	Single nucleotide variant (intron variant)	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency +1 more	GBenign/Likely benign
Select item 1163197	NM_000291.4(PGK1):c.1192G>A (p.Ala398Thr)	PGK1 (A398T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 493535	NM_000291.4(PGK1):c.1234G>A (p.Asp412Asn)	PGK1 (D412N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 449821	NM_000291.4(PGK1):c.1243A>G (p.Ser415Gly)	PGK1 (S415G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity