"Ambry Genetics"[submitter] AND "PDK2"[gene] - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2611390	NM_002611.5(PDK2):c.175G>A (p.Val59Met)	PDK2 (V59M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210964	NM_002611.5(PDK2):c.245A>T (p.Gln82Leu)	PDK2 (Q82L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3210965	NM_002611.5(PDK2):c.418A>G (p.Thr140Ala)	PDK2 (T140A +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2349924	NM_002611.5(PDK2):c.427G>A (p.Asp143Asn)	PDK2 (D143N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335014	NM_002611.5(PDK2):c.484C>T (p.Arg162Cys)	PDK2 (R162C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261856	NM_002611.5(PDK2):c.721G>A (p.Val241Ile)	LOC126862585, PDK2 (V177I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406323	NM_002611.5(PDK2):c.856A>G (p.Ile286Val)	LOC126862585, PDK2 (I222V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476205	NM_002611.5(PDK2):c.866G>A (p.Ser289Asn)	PDK2 (S289N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346460	NM_002611.5(PDK2):c.872G>A (p.Arg291Gln)	PDK2 (R227Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239547	NM_002611.5(PDK2):c.953C>T (p.Thr318Ile)	PDK2 (T254I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3305542	NM_002611.5(PDK2):c.1195A>G (p.Lys399Glu)	PDK2, SAMD14 (K399E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3210962	NM_002611.5(PDK2):c.1213C>T (p.Arg405Cys)	PDK2, SAMD14 (R341C +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance