Full data view for gene PHKG2

Information The variants shown are described using the NM_000294.2 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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     

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Age at death     

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./. - c.-3576679_*1120266dup - - Unknown - pathogenic g.27183151_31888684dup g.27171830_31877363dup - - CLN3_000010 mosaicism, copy number 3 in 0.33 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+?/. - c.-2659829_*3831582del r.0? p.0? Unknown - likely pathogenic g.28100001_34600000del g.28500001_35300000del CGH array, microdeletion in 16p11.2 - CRYM_000000 zygosity not written; probable breakpoints; pathogenic in literature; genes ANKS4B,CRYM,NPIPB3,SMG1P3,RRN3P3,MIR3680-1,MIR3680-2,SLC7A5P2,LOC101927814,METTL9,IGSF6,OTOA,OTOAP1,RRN3P1,NPIPB4,NPIPB5,UQCRC2,PDZD9,MOSMO,VWA3A,EEF2K,POLR3E,CDR2,MFSD13B,HS3ST2,USP31,SCNN1G,SCNN1B,COG7,GGA2,EARS2,UBFD1,NDUFAB1,PALB2,DCTN5,PLK1,ERN2,CHP2 PubMed: Ruberto 2020 - - Unknown ? - - - - DNA arrayCGH - targeted sequencing with 1 of 4 panels of OFTALMOgenics probes retinal disease 3 PubMed: Ruberto 2020 - ? - Italy - - - - - 1 LOVD
+/. - c.63C>G r.(?) p.(Tyr21*) Both (homozygous) - pathogenic (recessive) g.30760204C>G g.30748883C>G - - PHKG2_000021 - - - - Germline - - - - - DNA SEQ-NG blood - GSD9C - - - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
?/. - c.65A>G r.(?) p.(Gln22Arg) Unknown - VUS g.30760206A>G g.30748885A>G PHKG2(NM_000294.2):c.65A>G (p.Q22R) - C16orf93_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79_89del r.(79_89del) p.(Lys27Argfs*30) Paternal (confirmed) ACMG pathogenic (recessive) g.30760220_30760230del g.30748899_30748909del - - PHKG2_000022 - - - - Germline - - - - - DNA SEQ blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. - c.95+1G>T r.spl p.? Maternal (confirmed) ACMG pathogenic (recessive) g.30760237G>T g.30748916G>T - - PHKG2_000023 - - - - Germline - - - - - DNA SEQ blood - GSD9C - - - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/? 2i c.96-11G>A r.spl? p.(=) Parent #1 - likely pathogenic g.30762416G>A g.30751095G>A - - PHKG2_000001 patient hemizygous for PHKA2 variant which is probably pathogenic - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD9C - - - M - Australia - - - - - 1 Shu Yau
+?/. - c.112G>A r.(?) p.(Val38Ile) Unknown - likely pathogenic g.30762443G>A - - - PHKG2_000020 - - - rs1353903670 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.144delinsTCTGGTCG r.(?) p.(Glu49Leufs*14) Unknown - likely pathogenic g.30762475delinsTCTGGTCG g.30751154delinsTCTGGTCG - - PHKG2_000004 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 3 c.166G>T r.(?) p.(Glu56*) Unknown - likely pathogenic g.30762497G>T g.30751176G>T - - PHKG2_000005 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.166G>T r.(?) p.(Glu56*) Maternal (confirmed) ACMG pathogenic (recessive) g.30762497G>T g.30751176G>T - - PHKG2_000005 - - - - Germline - - - - - DNA SEQ blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
-/. - c.271+38C>T r.(=) p.(=) Unknown - benign g.30762640C>T g.30751319C>T - - C16orf93_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.272-1G>C r.spl p.? Both (homozygous) - pathogenic (recessive) g.30762869G>C g.30751548G>C - - PHKG2_000015 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat39 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
-?/. - c.288C>T r.(?) p.(Ser96=) Unknown - likely benign g.30762886C>T g.30751565C>T PHKG2(NM_000294.2):c.288C>T (p.S96=), PHKG2(NM_000294.3):c.288C>T (p.(Ser96=)) - C16orf93_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288C>T r.(?) p.(Ser96=) Unknown - likely benign g.30762886C>T - PHKG2(NM_000294.2):c.288C>T (p.S96=), PHKG2(NM_000294.3):c.288C>T (p.(Ser96=)) - C16orf93_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.318G>T r.(?) p.(Val106=) Unknown - likely benign g.30762916G>T g.30751595G>T PHKG2(NM_000294.2):c.318G>T (p.V106=) - C16orf93_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.333del r.(333del) p.(Lys112Argfs*30) Maternal (confirmed) ACMG pathogenic (recessive) g.30764559del g.30753238del - - PHKG2_000024 - - - - Germline - - - - - DNA SEQ-NG blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. - c.393-1G>C r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.30764714G>C g.30753393G>C - - PHKG2_000025 - - - - Germline - - - - - DNA SEQ-NG blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
-?/. - c.393G>A r.(?) p.(Arg131=) Unknown - likely benign g.30764715G>A - PHKG2(NM_000294.2):c.393G>A (p.R131=) - C16orf93_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 6 c.451C>T r.(?) p.(His151Tyr) Paternal (inferred) - likely pathogenic g.30764773C>T g.30753452C>T - - PHKG2_000002 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD9C - - - M - Australia - - - - - 1 Shu Yau
+?/? 6 c.451C>T r.(?) p.(His151Tyr) Maternal (inferred) - likely pathogenic g.30764773C>T g.30753452C>T - - PHKG2_000002 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD9C - - - M - Australia - - - - - 1 Shu Yau
+/. 6 c.469G>A r.(?) p.(Glu157Lys) Both (homozygous) - pathogenic g.30764791G>A g.30753470G>A - - PHKG2_000006 - PMID: 12930917 - - Germline yes 5/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.469G>A r.(?) p.(Glu157Lys) Both (homozygous) - pathogenic g.30764791G>A g.30753470G>A - - PHKG2_000006 - PMID: 12930917 - - Germline yes 5/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.469G>A r.(?) p.(Glu157Lys) Unknown - pathogenic g.30764791G>A g.30753470G>A - - PHKG2_000006 - PMID: 12930917 - - Germline yes 5/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.469G>A r.(?) p.(Glu157Lys) Unknown - pathogenic g.30764791G>A g.30753470G>A - - PHKG2_000006 - PMID: 12930917 - - Germline yes 5/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. 6 c.469G>A r.(?) p.(Glu157Lys) Unknown - pathogenic g.30764791G>A g.30753470G>A - - PHKG2_000006 - PMID: 12930917 - - Germline yes 5/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.502C>T r.(?) p.(Arg168*) Parent #1 - pathogenic (recessive) g.30764824C>T g.30753503C>T p.R168X - PHKG2_000016 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat40 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+/. - c.517G>A r.(?) p.(Gly173Arg) Maternal (confirmed) ACMG likely pathogenic (recessive) g.30764839G>A g.30753518G>A - - PHKG2_000026 - - - - Germline - - - - - DNA SEQ-NG blood - GSD9C - - - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 5 c.553C>T r.(?) p.(Arg185*) Unknown - likely pathogenic g.30764875C>T g.30753554C>T - - PHKG2_000007 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
-?/. - c.556+4_556+5dup r.spl? p.? Unknown - likely benign g.30764882_30764883dup - PHKG2(NM_000294.2):c.556+3_556+4dupGA - C16orf93_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.557-1G>C r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.30767502G>C g.30756181G>C - - PHKG2_000027 - - - - Germline - - - - - DNA SEQ-NG blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
-?/. - c.669G>A r.(?) p.(Leu223=) Unknown - likely benign g.30767709G>A g.30756388G>A PHKG2(NM_000294.2):c.669G>A (p.L223=) - C16orf93_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.672C>G r.(?) p.(Phe224Leu) Both (homozygous) ACMG likely pathogenic (recessive) g.30767712C>G g.30756391C>G - - PHKG2_000028 - - - - Germline - - Qiu's lab - - DNA SEQ-NG blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
?/. - c.746A>C r.(?) p.(Gln249Pro) Unknown ACMG VUS g.30767786A>C g.30756465A>C - - PHKG2_000029 - - - - Germline - - - - - DNA SEQ-NG blood - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+/. - c.761del r.(761del) p.(Glu256Serfs*12) Maternal (confirmed) ACMG pathogenic (recessive) g.30767805del g.30756484del - - PHKG2_000030 - - - - Germline - - - - - DNA SEQ - - GSD9C - - - M no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
+?/. 8 c.765del r.(?) p.(Glu256Serfs*12) Unknown - likely pathogenic g.30767805del g.30756484del - - PHKG2_000008 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.802_805del r.spl? p.(Ile268Profs*12) Both (homozygous) - pathogenic (recessive) g.30767911_30767914del g.30756590_30756593del delATCT ex9 I268PfsX12 - PHKG2_000017 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat38 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+?/. 9 c.835C>T r.(?) p.(Arg279Cys) Unknown - likely pathogenic g.30767944C>T g.30756623C>T - - PHKG2_000011 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+?/. 8 c.836G>A r.(?) p.(Arg279His) Unknown - likely pathogenic g.30767945G>A g.30756624G>A - - PHKG2_000012 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/. - c.859C>T r.(?) p.(Gln287*) Parent #2 - pathogenic (recessive) g.30767968C>T g.30756647C>T p.Q287X - PHKG2_000018 - PubMed: Davit-Spraul 2011 - - Germline - - - - - DNA SEQ - - GSD Pat40 PubMed: Davit-Spraul 2011 - - - France - - - - - 1 LOVD
+?/. - c.870_872del r.(870_872del) p.(Phe291del) Both (homozygous) ACMG likely pathogenic (recessive) g.30767979_30767981del g.30756658_30756660del - - PHKG2_000031 - - - - Germline - - - - - DNA SEQ blood - GSD9C - - - F no China Chinese - - - uncooked cornstarch 1 Wenjuan Qiu
-?/. - c.921G>T r.(?) p.(Arg307=) Unknown - likely benign g.30768030G>T - PHKG2(NM_000294.2):c.921G>T (p.R307=) - C16orf93_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.925C>T r.(?) p.(Arg309Trp) Unknown - likely pathogenic g.30768034C>T g.30756713C>T - - PHKG2_000013 - - - - Germline yes 1/288 - - - DNA SEQ-NG-I blood - GSD9C ? - - ? no China chinese han - - - uncooked corn starch 1 Wenjuan Qiu
+/? 10 c.958C>T r.(?) p.(Arg320*) Paternal (inferred) - pathogenic g.30768155C>T g.30756834C>T - - PHKG2_000003 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD9C - - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/? 10 c.958C>T r.(?) p.(Arg320*) Maternal (inferred) - pathogenic g.30768155C>T g.30756834C>T - - PHKG2_000003 - - - - Unknown - - - - - DNA SEQ-NG-I, SEQ - - GSD9C - - - F - United Kingdom (Great Britain) - - - - - 1 Shu Yau
+/. - c.986G>A r.(?) p.(Arg329Gln) Parent #1 - pathogenic (recessive) g.30768183G>A g.30756862G>A - - PHKG2_000019 unknown variant 2nd chromosome PubMed: Wang 2013 - - Germline - - - - - DNA SEQ - - GSD P23 PubMed: Wang 2013 - F - United States - - - - - 1 LOVD
?/. - c.991C>G r.(?) p.(Leu331Val) Unknown - VUS g.30768188C>G g.30756867C>G PHKG2(NM_000294.2):c.991C>G (p.L331V) - C16orf93_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>A r.(?) p.(Arg344Gln) Unknown - VUS g.30768228G>A - PHKG2(NM_000294.2):c.1031G>A (p.R344Q) - C16orf93_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1075G>A r.(?) p.(Gly359Arg) Unknown - VUS g.30768272G>A - PHKG2(NM_000294.2):c.1075G>A (p.(Gly359Arg)) - C16orf93_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*418C>T r.(=) p.(=) Unknown - VUS g.30768843C>T g.30757522C>T C16orf93(NM_001014979.2):c.950G>A (p.(Arg317Gln)) - C16orf93_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*533G>A r.(=) p.(=) Unknown - VUS g.30768958G>A g.30757637G>A C16orf93(NM_001014979.2):c.835C>T (p.(Arg279Ter)) - C16orf93_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1955G>A r.(=) p.(=) Unknown - VUS g.30770380G>A g.30759059G>A C16orf93(NM_001014979.2):c.770C>T (p.(Pro257Leu)) - C16orf93_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2564A>C r.(=) p.(=) Unknown - VUS g.30770989A>C g.30759668A>C C16orf93(NM_001014979.2):c.526T>G (p.(Cys176Gly)) - C16orf93_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4505C>T r.(=) p.(=) Unknown - likely benign g.30772923C>T g.30761602C>T C16orf93(NM_001014979.2):c.147G>A (p.(=)) - C16orf93_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4642G>A r.(=) p.(=) Unknown - VUS g.30773060G>A g.30761739G>A C16orf93(NM_001014979.2):c.10C>T (p.(Arg4Cys)) - C16orf93_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5484C>G r.(=) p.(=) Unknown - likely benign g.30773902C>G g.30762581C>G RNF40(NM_001207033.1):c.36C>G (p.(Asp12Glu)) - C16orf93_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*6330A>G r.(=) p.(=) Unknown - VUS g.30774748A>G g.30763427A>G RNF40(NM_014771.3):c.310A>G (p.T104A) - RNF40_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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