"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "DBNL"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1163867	NM_000290.4(PGAM2):c.644C>A (p.Pro215His)	DBNL, PGAM2 (P215H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 3379752	NM_000290.4(PGAM2):c.635C>T (p.Thr212Met)	DBNL, PGAM2 (T212M)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 360274	NM_000290.4(PGAM2):c.375G>A (p.Pro125=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
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)	Glycogen storage disease type X +2 more	GBenign/Likely benign
Select item 360276	NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)	DBNL, LOC129998342 +1 more (I114S)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GBenign
Select item 1693950	NM_000290.4(PGAM2):c.310GCC[1] (p.Ala105del)	DBNL, PGAM2 (A105del)	Microsatellite (3 prime UTR variant +1 more)	not provided	GUncertain significance
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)	Glycogen storage disease type X +1 more	GPathogenic/Likely pathogenic
Select item 193078	NM_000290.4(PGAM2):c.216C>T (p.Asp72=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign