"PreventionGenetics, part of Exact Sciences"[submitter] AND "DBNL"[gen - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360270	NM_000290.4(PGAM2):c.726C>T (p.Ala242=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 440991	NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)	DBNL, PGAM2 (E236A)	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 360272	NM_000290.4(PGAM2):c.459C>T (p.Cys153=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 911382	NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)	DBNL, PGAM2 (T152I)	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2635672	NM_000290.4(PGAM2):c.427G>A (p.Ala143Thr)	DBNL, PGAM2 (A143T)	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder	GUncertain significance
Select item 360275	NM_000290.4(PGAM2):c.366G>A (p.Pro122=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 1602236	NM_000290.4(PGAM2):c.363C>T (p.Ile121=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GLikely benign
Select item 289850	NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr)	DBNL, PGAM2 (A104T)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 418	NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)	DBNL, LOC129998343 +1 more (W78*)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3053583	NM_000290.4(PGAM2):c.45A>T (p.Thr15=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related disorder	GLikely benign