Full data view for gene PHKA2

Information The variants shown are described using the NM_000292.2 transcript reference sequence.

206 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.3538-51_*3275delinsCTCTGCAGGC r.? p.? Maternal (inferred) - pathogenic (recessive) g.18908328_18911824delinsGCCTGCAGAG g.18890210_18893706delinsGCCTGCAGAG del ex33 - PHKA2_000117 no enzyme activity PubMed: Magner 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat12 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
?/. - c.-47103G>A r.(?) p.(=) Unknown - VUS g.19049153C>T - ADGRG2(NM_001079858.3):c.307G>A (p.(Val103Ile)) - GPR64_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43314C>T r.(?) p.(=) Unknown - likely benign g.19045364G>A g.19027246G>A GPR64(NM_001079858.2):c.443C>T (p.T148I, p.(Thr148Ile)) - GPR64_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-43314C>T r.(?) p.(=) Unknown - VUS g.19045364G>A g.19027246G>A GPR64(NM_001079858.2):c.443C>T (p.T148I, p.(Thr148Ile)) - GPR64_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43306C>T r.(?) p.(=) Unknown - likely benign g.19045356G>A g.19027238G>A ADGRG2(NM_001079858.2):c.451C>T (p.L151=) - GPR64_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-39528G>A r.(?) p.(=) Unknown - likely benign g.19041578C>T g.19023460C>T GPR64(NM_001079858.2):c.511-7G>A (p.(=)) - GPR64_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-39499C>A r.(?) p.(=) Unknown - VUS g.19041549G>T g.19023431G>T GPR64(NM_001079858.2):c.533C>A (p.(Thr178Lys)) - GPR64_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-37202G>A r.(?) p.(=) Unknown - likely benign g.19039252C>T - GPR64(NM_001079858.2):c.613G>A (p.(Ala205Thr)) - GPR64_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35663T>C r.(?) p.(=) Unknown - likely benign g.19037713A>G g.19019595A>G GPR64(NM_001079858.2):c.710+4T>C (p.?) - GPR64_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29983C>A r.(?) p.(=) Unknown - likely benign g.19032033G>T - ADGRG2(NM_001079858.3):c.870C>A (p.(His290Gln)) - GPR64_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-29944A>G r.(?) p.(=) Unknown - likely benign g.19031994T>C g.19013876T>C ADGRG2(NM_001079858.2):c.909A>G (p.S303=) - GPR64_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-29936C>G r.(?) p.(=) Unknown - VUS g.19031986G>C g.19013868G>C ADGRG2(NM_001079858.2):c.917C>G (p.P306R) - GPR64_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-29927C>G r.(?) p.(=) Unknown - VUS g.19031977G>C - GPR64(NM_005756.3):c.917C>G (p.(Pro306Arg)) - GPR64_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26671C>T r.(?) p.(=) Unknown - likely benign g.19028721G>A - ADGRG2(NM_001079858.3):c.1265+10C>T - GPR64_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-23425G>T r.(?) p.(=) Unknown - VUS g.19025475C>A g.19007357C>A ADGRG2(NM_001079858.2):c.1567G>T (p.D523Y) - GPR64_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-23425G>T r.(?) p.(=) Unknown - VUS g.19025475C>A - ADGRG2(NM_001079858.2):c.1567G>T (p.D523Y) - GPR64_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-20878G>A r.(?) p.(=) Unknown - VUS g.19022928C>T g.19004810C>T ADGRG2(NM_001079858.2):c.1909G>A (p.G637R) - GPR64_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19162C>G r.(?) p.(=) Unknown - VUS g.19021212G>C - - - GPR64_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19136G>A r.(?) p.(=) Unknown - likely benign g.19021186C>T - ADGRG2(NM_001079858.2):c.2008G>A (p.A670T) - GPR64_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-19128G>C r.(?) p.(=) Unknown - likely benign g.19021178C>G - ADGRG2(NM_001079858.2):c.2016G>C (p.L672=) - GPR64_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19026G>T r.(?) p.(=) Unknown - VUS g.19021076C>A - ADGRG2(NM_001079858.3):c.2118G>T (p.(Leu706Phe)) - GPR64_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15982T>A r.(?) p.(=) Unknown - VUS g.19018032A>T - ADGRG2(NM_001079858.2):c.2277T>A (p.D759E) - GPR64_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12180T>C r.(?) p.(=) Unknown - likely benign g.19014230A>G - ADGRG2(NM_001079858.2):c.2655T>C (p.N885=) - GPR64_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-12160G>A r.(?) p.(=) Unknown - VUS g.19014210C>T g.18996092C>T GPR64(NM_001079858.2):c.2675G>A (p.(Arg892Gln)) - GPR64_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12160G>A r.(?) p.(=) Unknown - likely benign g.19014210C>T - GPR64(NM_001079858.2):c.2675G>A (p.(Arg892Gln)) - GPR64_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7018A>G r.(?) p.(=) Unknown - VUS g.19009068T>C g.18990950T>C ADGRG2(NM_001079858.2):c.2968A>G (p.K990E) - GPR64_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 26i_30i c.(2908+1_2909-1)_()del r.? p.? Parent #1 - pathogenic (recessive) g.(18913310_18915280)_(18919722_18923875)del g.(18895192_18897162)_(18901604_18905757)del del ex27-30 - PHKA2_000069 unknown variant 2nd chromosome PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P20 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - 1 LOVD
+/. 26i_33_ c.2909-491_*1187{0} r.? p.? Parent #1 - pathogenic (recessive) g.18899044_18920212del - hg19:g.18920212_18899044del - PHKA2_000068 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat20 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
?/? 2 c.112G>C r.(?) p.(Glu38Gln) Parent #1 - VUS g.18972497C>G g.18954379C>G - - PHKA2_000001 recurrent, found 2 times / no paternal X-chromosome PubMed: Tarpey 2009 - - Unknown - 2/208 patients - - - DNA SEQ - - ? - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - - - - 2 LOVD
-/. 2 c.112G>C r.(?) p.(Glu38Gln) Parent #1 - benign g.18972497C>G g.18954379C>G - - PHKA2_000001 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat32 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 2 c.124G>C r.(?) p.(Ala42Pro) Parent #1 - likely pathogenic (recessive) g.18972485C>G g.18954367C>G - - PHKA2_000088 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat12 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.127T>A r.(?) p.(Trp43Arg) Maternal (inferred) - pathogenic (recessive) g.18972482A>T g.18954364A>T - - PHKA2_000135 - PubMed: Magner 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat13 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.18972476G>A g.18954358G>A PHKA2(NM_000292.3):c.133C>T (p.R45W) - PHKA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.133C>T r.(?) p.(Arg45Trp) Parent #1 - likely pathogenic (recessive) g.18972476G>A g.18954358G>A - - PHKA2_000036 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat35 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.133C>T r.(?) p.(Arg45Trp) Parent #1 - pathogenic (recessive) g.18972476G>A g.18954358G>A - - PHKA2_000036 unknown variant 2nd chromosome PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P21 PubMed: Wang 2013 2-generation family, 1 affected, unaffected heterozygous carrier mother M - United States - - - - - 1 LOVD
+/. - c.133C>T r.(?) p.(Arg45Trp) Unknown - pathogenic g.18972476G>A - PHKA2(NM_000292.3):c.133C>T (p.R45W) - PHKA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.133C>T r.(?) p.(Arg45Trp) Maternal (inferred) - pathogenic (recessive) g.18972476G>A g.18954358G>A - - PHKA2_000036 - PubMed: Magner 2026 - rs1601781031 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat14 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Arg45Gln) Maternal (inferred) - pathogenic (recessive) g.18972475C>T g.18954357C>T - - PHKA2_000134 normal enzyme activity PubMed: Magner 2026 - rs1601781024 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat15 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Arg45Gln) Maternal (inferred) - pathogenic (recessive) g.18972475C>T g.18954357C>T - - PHKA2_000134 normal enzyme activity PubMed: Magner 2026 - rs1601781024 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam6Pat16 PubMed: Magner 2026 family, 3 affected M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 3 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Arg45Gln) Maternal (inferred) - pathogenic (recessive) g.18972475C>T g.18954357C>T - - PHKA2_000134 normal enzyme activity PubMed: Magner 2026 - rs1601781024 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam6Pat17 PubMed: Magner 2026 relative M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Arg45Gln) Maternal (inferred) - pathogenic (recessive) g.18972475C>T g.18954357C>T - - PHKA2_000134 normal enzyme activity PubMed: Magner 2026 - rs1601781024 Germline - - - - 87/13 (favoring variant allele) DNA SEQ, SEQ-NG - 29-gene panel GSD Fam6Pat18 PubMed: Magner 2026 relative F - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Arg45Gln) Maternal (inferred) - pathogenic (recessive) g.18972475C>T g.18954357C>T - - PHKA2_000134 normal enzyme activity PubMed: Magner 2026 - rs1601781024 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat19 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.134G>A r.(?) p.(Arg45Gln) Maternal (inferred) - pathogenic (recessive) g.18972475C>T g.18954357C>T - - PHKA2_000134 normal enzyme activity PubMed: Magner 2026 - rs1601781024 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat20 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
?/. - c.202G>A r.(?) p.(Asp68Asn) Unknown - VUS g.18972407C>T - PHKA2(NM_000292.2):c.202G>A (p.D68N) - PHKA2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202G>A r.(?) p.(Asp68Asn) Unknown - VUS g.18972407C>T - PHKA2(NM_000292.2):c.202G>A (p.D68N) - PHKA2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226G>A r.(?) p.(Glu76Lys) Unknown - VUS g.18972383C>T g.18954265C>T PHKA2(NM_000292.2):c.226G>A (p.(Glu76Lys)) - PHKA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2i_4i c.237+749_454+443del r.(?) p.(Asn80Alafs*21) Parent #1 - pathogenic (recessive) g.18968779_18971623del - hg18:g18878700_18881544del - PHKA2_000067 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat24 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.272G>A r.(?) p.(Cys91Tyr) Maternal (inferred) - pathogenic (recessive) g.18970625C>T g.18952507C>T - - PHKA2_000133 enzyme deficiency PubMed: Magner 2026 - rs2147991232 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam7Pat21 PubMed: Magner 2026 family, 2 affected M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 2 Johan den Dunnen
+/. - c.272G>A r.(?) p.(Cys91Tyr) Maternal (inferred) - pathogenic (recessive) g.18970625C>T g.18952507C>T - - PHKA2_000133 enzyme deficiency PubMed: Magner 2026 - rs2147991232 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam7Pat22 PubMed: Magner 2026 relative F - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+?/. 3 c.284A>G r.(?) p.(Gln95Arg) Parent #1 - likely pathogenic (recessive) g.18970613T>C g.18952495T>C - - PHKA2_000087 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat15 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 3 c.284A>G r.(?) p.(Gln95Arg) Parent #1 - likely pathogenic (recessive) g.18970613T>C g.18952495T>C - - PHKA2_000087 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat16 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 3 c.284A>G r.(?) p.(Gln95Arg) Parent #1 - likely pathogenic (recessive) g.18970613T>C g.18952495T>C - - PHKA2_000087 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat17 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
?/. - c.285+165del r.(=) p.(=) Unknown - VUS g.18970447del g.18952329del - - PHKA2_000040 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.354C>T r.(?) p.(Thr118=) Unknown - likely benign g.18969322G>A - PHKA2(NM_000292.2):c.354C>T (p.T118=) - PHKA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.382G>A r.(?) p.(Asp128Asn) Unknown - VUS g.18969294C>T - PHKA2(NM_000292.3):c.382G>A (p.(Asp128Asn)) - PHKA2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.392G>A r.(?) p.(Gly131Asp) Parent #1 - likely pathogenic (recessive) g.18969284C>T g.18951166C>T - - PHKA2_000086 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat32 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 4 c.392G>T r.(?) p.(Gly131Val) Parent #1 - likely pathogenic (recessive) g.18969284C>A g.18951166C>A - - PHKA2_000085 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat27 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.394C>T r.(?) p.(His132Tyr) Maternal (inferred) - pathogenic (recessive) g.18969282G>A g.18951164G>A - - PHKA2_000132 - PubMed: Magner 2026 - rs137852292 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam8Pat23 PubMed: Magner 2026 family, 2 affected M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 2 Johan den Dunnen
+/. - c.394C>T r.(?) p.(His132Tyr) Maternal (inferred) - pathogenic (recessive) g.18969282G>A g.18951164G>A - - PHKA2_000132 - PubMed: Magner 2026 - rs137852292 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam8Pat24 PubMed: Magner 2026 relative M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+?/. 4 c.401A>G r.(?) p.(Gln134Arg) Parent #1 - likely pathogenic (recessive) g.18969275T>C g.18951157T>C - - PHKA2_000084 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat37 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.419T>C r.(?) p.(Leu140Pro) Maternal (inferred) - pathogenic (recessive) g.18969257A>G g.18951139A>G - - PHKA2_000131 - PubMed: Magner 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat25 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
-?/. - c.472A>G r.(?) p.(Thr158Ala) Unknown - likely benign g.18966927T>C - PHKA2(NM_000292.3):c.472A>G (p.(Thr158Ala)) - PHKA2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.537+5G>A r.spl? p.? Parent #1 - pathogenic (recessive) g.18966857C>T g.18948739C>T - - PHKA2_000083 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat13 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 6 c.556C>T r.(?) p.(Arg186Cys) Parent #1 - likely pathogenic (recessive) g.18963258G>A g.18945140G>A - - PHKA2_000082 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat34 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 6 c.559G>A r.(?) p.(Gly187Arg) Parent #1 - likely pathogenic (recessive) g.18963255C>T g.18945137C>T - - PHKA2_000081 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat33 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.601T>C r.(?) p.(Ser201Pro) Unknown - pathogenic g.18963213A>G g.18945095A>G PHKA2(NM_000292.3):c.601T>C (p.S201P) - PHKA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.619-388A>G r.(=) p.(=) Unknown - likely benign g.18962314T>C - PHKA2(NM_000292.3):c.619-388A>G - PHKA2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696A>G r.(?) p.(Pro232=) Unknown - likely benign g.18961849T>C g.18943731T>C PHKA2(NM_000292.2):c.696A>G (p.P232=) - PHKA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718-3C>T r.spl? p.? Unknown - likely benign g.18959796G>A g.18941678G>A PHKA2(NM_000292.2):c.718-3C>T (p.?) - PHKA2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7i c.718-3C>T r.spl? p.(=) Parent #1 - VUS g.18959796G>A g.18941678G>A - - PHKA2_000032 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat41 PubMed: Davit-Spraul 2011 - F - France - - - - - 1 LOVD
+?/. - c.721A>G r.(?) p.(Ile241Val) Unknown - likely pathogenic g.18959790T>C - - - PHKA2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.739C>T r.(?) p.(Pro247Ser) Maternal (inferred) - pathogenic (recessive) g.18959772G>A g.18941654G>A - - PHKA2_000130 enzyme deficiency PubMed: Magner 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat26 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
-?/? 8 c.742A>C r.(?) p.(=) Parent #1 - likely benign g.18959769T>G g.18941651T>G R248R - PHKA2_000009 found once, nonrecurrent change / no paternal X-chromosome PubMed: Tarpey 2009 - - Unknown - 1/208 patients - - - DNA SEQ - - ? - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - - - - - - - - 1 LOVD
+/. - c.749C>T r.(?) p.(Ser250Leu) Maternal (inferred) - pathogenic (recessive) g.18959762G>A g.18941644G>A - - PHKA2_000129 - PubMed: Magner 2026 - rs2048489995 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat27 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. - c.772G>A r.(?) p.(Gly258Arg) Maternal (inferred) - pathogenic (recessive) g.18959739C>T g.18941621C>T - - PHKA2_000128 - PubMed: Magner 2026 - rs2147962993 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat28 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+?/. - c.797C>T r.(?) p.(Pro266Leu) Unknown - likely pathogenic g.18959714G>A - PHKA2(NM_000292.3):c.797C>T (p.P266L) - PHKA2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.884G>A r.(?) p.(Arg295His) Parent #1 - likely pathogenic g.18958147C>T g.18940029C>T - - PHKA2_000059 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797044877 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.884G>A r.(?) p.(Arg295His) Maternal (inferred) - pathogenic (recessive) g.18958147C>T g.18940029C>T - - PHKA2_000059 - PubMed: Magner 2026 - rs797044877 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat29 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+?/. - c.887T>C r.(?) p.(Phe296Ser) Unknown - likely pathogenic g.18958144A>G g.18940026A>G PHKA2(NM_000292.3):c.887T>C (p.F296S) - PHKA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.892C>T r.(?) p.(Arg298Ter) Maternal (inferred) - pathogenic (recessive) g.18958139G>A g.18940021G>A - - PHKA2_000127 no enzyme activity PubMed: Magner 2026 - rs2518766696 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat1 PubMed: Magner 2026 patient M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+?/. 9 c.896A>G r.(?) p.(Asp299Gly) Parent #1 - likely pathogenic (recessive) g.18958135T>C g.18940017T>C - - PHKA2_000080 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat26 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 9 c.899G>A r.(?) p.(Gly300Asp) Parent #1 - likely pathogenic (recessive) g.18958132C>T g.18940014C>T - - PHKA2_000079 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat31 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+?/. 9 c.899G>T r.(?) p.(Gly300Val) Parent #1 - likely pathogenic (recessive) g.18958132C>A g.18940014C>A - - PHKA2_000078 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat30 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.916G>A r.(?) p.(Glu306Lys) Maternal (inferred) - pathogenic (recessive) g.18958115C>T g.18939997C>T - - PHKA2_000126 - PubMed: Magner 2026 - - Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat30 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+?/. - c.977G>A r.(?) p.(Cys326Tyr) Unknown - likely pathogenic g.18956809C>T g.18938691C>T PHKA2(NM_000292.3):c.977G>A (p.C326Y) - PHKA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.977G>A r.(?) p.(Cys326Tyr) Parent #1 - likely pathogenic (recessive) g.18956809C>T g.18938691C>T - - PHKA2_000030 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat36 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. - c.977G>A r.(?) p.(Cys326Tyr) Maternal (inferred) - pathogenic (recessive) g.18956809C>T g.18938691C>T - - PHKA2_000030 - PubMed: Magner 2026 - rs1601758342 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Pat31 PubMed: Magner 2026 - M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
-?/. - c.1025G>A r.(?) p.(Ser342Asn) Unknown - likely benign g.18956761C>T g.18938643C>T PHKA2(NM_000292.2):c.1025G>A (p.S342N) - PHKA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031A>G r.(?) p.(Asp344Gly) Unknown - VUS g.18956755T>C - PHKA2(NM_000292.2):c.1031A>G (p.D344G) - PHKA2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1042-116C>T r.(=) p.(=) Maternal (inferred) - VUS g.18954384G>A g.18936266G>A - - PHKA2_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1042-116C>T r.(=) p.(=) Maternal (inferred) - VUS g.18954384G>A g.18936266G>A - - PHKA2_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/? 12 c.1174C>G r.(?) p.(Arg392Gly) Maternal (inferred) - likely pathogenic g.18949830G>C g.18931712G>C - - PHKA2_000010 no paternal X-chromosome - - - Unknown - - - - - DNA SEQ - - GSD9A1 - - - M - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. - c.1174C>T r.(?) p.(Arg392Ter) Maternal (inferred) - pathogenic (recessive) g.18949830G>A g.18931712G>A - - PHKA2_000125 no enzyme activity PubMed: Magner 2026 - rs760585193 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam1Pat2 PubMed: Magner 2026 family, 2 affected M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 2 Johan den Dunnen
+/. - c.1174C>T r.(?) p.(Arg392Ter) Maternal (inferred) - pathogenic (recessive) g.18949830G>A g.18931712G>A - - PHKA2_000125 no enzyme activity PubMed: Magner 2026 - rs760585193 Germline - - - - - DNA SEQ, SEQ-NG - 29-gene panel GSD Fam1Pat3 PubMed: Magner 2026 relative M - (Czech Republic);(Serbia);(Croatia (Hrvatska)) - - - - - 1 Johan den Dunnen
+/. 12 c.1183_1186dup r.(?) p.(Gly396Aspfs*28) Parent #1 - pathogenic (recessive) g.18949818_18949821dup g.18931700_18931703dup - - PHKA2_000077 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat21 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
+/. 12 c.1210C>T r.(?) p.(Gln404*) Parent #1 - pathogenic (recessive) g.18949794G>A g.18931676G>A - - PHKA2_000076 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat22 PubMed: Davit-Spraul 2011 - M - France - - - - - 1 LOVD
?/. - c.1246G>A r.(?) p.(Gly416Arg) Unknown ACMG VUS g.18947424C>T g.18929306C>T - - PHKA2_000057 ACMG PP3, BP6 PubMed: Bravo-Alonso 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES acidosis, lactic Pat23 PubMed: Bravo-Alonso 2019 - M - Spain - - - - - 1 Johan den Dunnen
?/. - c.1262G>A r.(?) p.(Gly421Asp) Unknown - VUS g.18947408C>T - - - PHKA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398G>A r.(?) p.(Ala466=) Unknown - likely benign g.18944632C>T g.18926514C>T PHKA2(NM_000292.2):c.1398G>A (p.A466=), PHKA2(NM_000292.3):c.1398G>A (p.A466=) - PHKA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398G>A r.(?) p.(Ala466=) Unknown - likely benign g.18944632C>T g.18926514C>T PHKA2(NM_000292.2):c.1398G>A (p.A466=), PHKA2(NM_000292.3):c.1398G>A (p.A466=) - PHKA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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