"Illumina Laboratory Services, Illumina"[submitter] AND "PHKA1"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 915222	NM_002637.4(PHKA1):c.*2110A>G	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 915223	NM_002637.4(PHKA1):c.*2056T>A	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368630	NM_002637.4(PHKA1):c.*1865G>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 912523	NM_002637.4(PHKA1):c.*1797A>G	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 912524	NM_002637.4(PHKA1):c.*1375A>G	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GBenign
Select item 368631	NM_002637.4(PHKA1):c.*1303T>C	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368632	NM_002637.4(PHKA1):c.*1275A>G	PHKA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368634	NM_002637.4(PHKA1):c.*1241GT[14]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 368633	NM_002637.4(PHKA1):c.*1241GT[13]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GBenign
Select item 368635	NM_002637.4(PHKA1):c.*1241GT[11]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 368636	NM_002637.4(PHKA1):c.*1151C>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 912525	NM_002637.4(PHKA1):c.*887A>G	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 912526	NM_002637.4(PHKA1):c.*804C>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GBenign
Select item 913634	NM_002637.4(PHKA1):c.*772C>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368637	NM_002637.4(PHKA1):c.*674A>C	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368638	NM_002637.4(PHKA1):c.*625CT[2]	PHKA1	Microsatellite (3 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GBenign
Select item 368639	NM_002637.4(PHKA1):c.*553C>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 913635	NM_002637.4(PHKA1):c.*503C>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 913636	NM_002637.4(PHKA1):c.*500C>A	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GBenign
Select item 368640	NM_002637.4(PHKA1):c.*467T>C	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368641	NM_002637.4(PHKA1):c.*231A>T	PHKA1	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease IXd	GBenign
Select item 368642	NM_002637.4(PHKA1):c.3669A>G (p.Gln1223=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GBenign
Select item 914030	NM_002637.4(PHKA1):c.3611C>T (p.Ser1204Phe)	PHKA1 (S1191F +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 914031	NM_002637.4(PHKA1):c.3570C>T (p.Asp1190=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GConflicting classifications of pathogenicity
Select item 914032	NM_002637.4(PHKA1):c.3529G>A (p.Ala1177Thr)	PHKA1 (A1177T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368643	NM_002637.4(PHKA1):c.3523A>G (p.Met1175Val)	PHKA1 (M1175V +2 more)	Single nucleotide variant (missense variant)	PHKA1-related condition +2 more	GBenign
Select item 368644	NM_002637.4(PHKA1):c.3511G>A (p.Ala1171Thr)	PHKA1 (A1171T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 368645	NM_002637.4(PHKA1):c.3435C>T (p.Ile1145=)	PHKA1	Single nucleotide variant (synonymous variant)	PHKA1-related condition +1 more	GBenign/Likely benign
Select item 914033	NM_002637.4(PHKA1):c.3371G>A (p.Arg1124His)	PHKA1 (R1052H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 368646	NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)	PHKA1 (E1122Q +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd +1 more	GConflicting classifications of pathogenicity
Select item 915258	NM_002637.4(PHKA1):c.3149G>A (p.Arg1050His)	PHKA1 (R1050H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 915259	NM_002637.4(PHKA1):c.2916C>T (p.Ser972=)	PHKA1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 915260	NM_002637.4(PHKA1):c.2912G>A (p.Arg971Gln)	PHKA1 (R971Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GConflicting classifications of pathogenicity
Select item 915261	NM_002637.4(PHKA1):c.2856G>A (p.Ser952=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GBenign/Likely benign
Select item 915262	NM_002637.4(PHKA1):c.2483A>G (p.Tyr828Cys)	PHKA1 (Y769C +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 258784	NM_002637.4(PHKA1):c.2462G>A (p.Arg821His)	PHKA1 (R821H +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 506711	NM_002637.4(PHKA1):c.2433C>T (p.Thr811=)	PHKA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 915263	NM_002637.4(PHKA1):c.2370-14C>T	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GBenign
Select item 384382	NM_002637.4(PHKA1):c.2179C>T (p.Arg727Trp)	PHKA1 (R727W +1 more)	Single nucleotide variant (missense variant)	PHKA1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 912574	NM_002637.4(PHKA1):c.2160G>A (p.Thr720=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd +1 more	GBenign/Likely benign
Select item 368647	NM_002637.4(PHKA1):c.2112C>T (p.Thr704=)	PHKA1	Single nucleotide variant (synonymous variant +1 more)	PHKA1-related condition +1 more	GLikely benign
Select item 912575	NM_002637.4(PHKA1):c.1964G>A (p.Arg655His)	PHKA1 (R655H)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXd +1 more	GConflicting classifications of pathogenicity
Select item 912576	NM_002637.4(PHKA1):c.1748T>C (p.Leu583Pro)	PHKA1 (L583P)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 912577	NM_002637.4(PHKA1):c.1698C>A (p.Ile566=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GConflicting classifications of pathogenicity
Select item 912578	NM_002637.4(PHKA1):c.1318G>A (p.Val440Ile)	PHKA1 (V440I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368648	NM_002637.4(PHKA1):c.1141G>A (p.Asp381Asn)	PHKA1 (D381N)	Single nucleotide variant (missense variant)	PHKA1-related condition +2 more	GBenign/Likely benign
Select item 913675	NM_002637.4(PHKA1):c.1136G>A (p.Arg379Lys)	PHKA1 (R379K)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 913676	NM_002637.4(PHKA1):c.1067A>G (p.Glu356Gly)	PHKA1 (E356G)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 368649	NM_002637.4(PHKA1):c.868C>T (p.Arg290Cys)	PHKA1 (R290C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 368650	NM_002637.4(PHKA1):c.864+11A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd +1 more	GBenign/Likely benign
Select item 368651	NM_002637.4(PHKA1):c.718-12C>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GBenign
Select item 913677	NM_002637.4(PHKA1):c.536C>T (p.Ala179Val)	PHKA1 (A179V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd +2 more	GConflicting classifications of pathogenicity
Select item 368652	NM_002637.4(PHKA1):c.492C>T (p.Phe164=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd +1 more	GBenign
Select item 368653	NM_002637.4(PHKA1):c.478G>A (p.Asp160Asn)	PHKA1 (D160N)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd +1 more	GBenign/Likely benign
Select item 258785	NM_002637.4(PHKA1):c.429C>T (p.Leu143=)	PHKA1, PHKA1-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 368654	NM_002637.4(PHKA1):c.-229G>A	PHKA1	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease IXd	GBenign
Select item 914073	NM_002637.4(PHKA1):c.-261C>A	PHKA1	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease IXd +1 more	GBenign/Likely benign
Select item 1180551	GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	CXorf49B, CXorf51A +821 more	Copy number loss	not provided	GPathogenic

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Items: 58