"Mendelics"[submitter] AND "PHKA2"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 803725	NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)	PHKA2, PHKA2-AS1 (Q1133*)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 208738	NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)	PHKA2, PHKA2-AS1 (L1128P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1039335	NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)	PHKA2 (G1097S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1 +2 more	GConflicting classifications of pathogenicity
Select item 803726	NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)	PHKA2 (A929P)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GConflicting classifications of pathogenicity
Select item 803727	NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)	PHKA2 (M912T)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GConflicting classifications of pathogenicity
Select item 1685003	NM_000292.3(PHKA2):c.1541G>A (p.Arg514Lys)	PHKA2 (R514K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685004	NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)	PHKA2 (R500Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1 +1 more	GUncertain significance
Select item 526622	NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)	PHKA2 (P498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1686059	NM_000292.3(PHKA2):c.1324+1G>A	PHKA2	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXa1	GPathogenic
Select item 1686060	NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)	PHKA2 (Q404*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 803728	NM_000292.3(PHKA2):c.1138-2A>G	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GPathogenic
Select item 1685401	NM_000292.3(PHKA2):c.919-1G>A	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 803729	NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)	PHKA2 (R295L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 208493	NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)	PHKA2 (R295C)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GPathogenic
Select item 1685402	NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)	PHKA2 (R186P)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 10536	NM_000292.3(PHKA2):c.395A>C (p.His132Pro)	PHKA2 (H132P)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GPathogenic
Select item 803730	NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)	PHKA2 (T105fs)	Deletion (frameshift variant)	Glycogen storage disease IXa1	GPathogenic
Select item 644261	NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)	PHKA2 (R45W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic