Full data view for gene HK1

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

233 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.*6C>T r.(?) p.(=) Unknown - benign g.71160897C>T g.69401141C>T HK1(NM_033500.2):c.*6C>T - HK1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat72 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(=) Both (homozygous) - likely pathogenic (recessive) g.71038467G>C g.69278711G>C 19589622G>A - HK1_000021 homozygosity mapping, gene sequencing; not in 233 controls (Bulgaria); functional consequences not known PubMed: Hantke 2009 - rs397514654 Germline yes - - - - DNA SEQ - - HMSNR;CMT4G 19536174-Fam PubMed: Hantke 2009 multi-generation family F;M yes Bulgaria gypsy (Kalderas) - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(=) Parent #1 - likely pathogenic (recessive) g.71038467G>C g.69278711G>C - - HK1_000021 - PubMed: Hantke 2009 - - Germline - 5/790 control individuals - - - DNA SEQ - - Healthy/Control 19536174-con PubMed: Hantke 2009 control individuals F;M - Bulgaria gypsy - - - - 5 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C HK1 g.9712G>C - HK1_000021 - PubMed: Sevilla 2013 - rs397514654 Germline yes - - - - DNA SEQ - - CMT CMT-502 PubMed: Claramunt 2007, PubMed: Sevilla 2013 3-generation family, affected brother/sister F;M yes Spain gypsy - - - - 2 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Sevilla 2013 - - Germline - - - - - DNA SEQ - - CMT CMT-444 PubMed: Claramunt 2007, PubMed: Sevilla 2013 family, 1 affected F yes Spain gypsy - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(=) Both (homozygous) - likely pathogenic (!) g.71038467G>C g.69278711G>C NT_008583.16:g.19589622G>C g.9712G>C (c.-249-3818G>C) - HK1_000021 pathogenic mechanism and functional effects remain unknown (could involve disrupted translational regulation from Ter>Tyr variant in uORF (NM_001358263.1:c.-270G>C)) PubMed: Hantke 2009 - rs397514654 Germline yes - - - - DNA RT-PCR, SEQ - - CMT patients PubMed: Hantke 2009 analysis 34 HMSNR patients F;M - - - - - - - 34 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.69278711G>C - HK1_000021 - PubMed: Brozkova 2016 - rs397514654 Germline yes - - - - DNA SEQ - - CMT patients PubMed: Brozkova 2016 analysis 20 HMSNR patients from 16 families F;M - Czech Republic - - - - - 20 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Gabrikova 2016 - - Germline - - - - - DNA SEQ - - CMT Fam2PatIV1 PubMed: Gabrikova 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(=) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Gabrikova 2016 - - Germline - - - - - DNA SEQ - - CMT Fam4PatII1 PubMed: Gabrikova 2016 2-generation family, 1 affected, unaffected heterozygous carrier daughter/son F - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat1 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat2 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat3 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat4 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat5 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat6 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat7 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat8 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat9 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat10 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat11 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat12 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat13 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat14 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat15 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat16 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat17 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat18 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat19 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat20 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat21 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat22 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat23 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat24 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+/. - c.-270G>C r.(?) p.(?) Both (homozygous) - pathogenic (recessive) g.71038467G>C g.69278711G>C g.9712G>C - HK1_000021 - PubMed: Ceprian 2024 - - Germline - - - - - DNA SEQ - - CMT Pat25 PubMed: Ceprian 2024 analysis 25 patients from 9 unrelated families (gypsy) - - France gypsy - - - - 1 Johan den Dunnen
+?/. - c.-270G>C r.(?) p.(?) Unknown - NA g.71038467G>C g.69278711G>C - - HK1_000021 in vitro expression analysis suggests inability to bind to VDAC, inducing a sustained release of mitochondrial calcium in the cytoplasm, leaving mSC prone to demyelination, which may explain the demyelinating peripheral neuropathy affects CMT4G patients PubMed: Ceprian 2024 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-258dup r.(?) p.(=) Unknown - benign g.71038479dup g.69278723dup HK1(NM_001358263.1):c.-258dupT - HK1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-196+1241G>A r.(?) p.(=) Both (homozygous) - pathogenic g.71039782G>A g.69280026G>A g.11027G>A - HK1_000022 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat72 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
-?/. - c.-196+1241G>A r.(?) p.(=) Both (homozygous) - likely benign g.71039782G>A g.69280026G>A 19590937G>A - HK1_000022 variant not conserved PubMed: Hantke 2009 - - Germline yes - - - - DNA SEQ - - HMSNR;CMT4G 19536174-Fam PubMed: Hantke 2009 multi-generation family F;M yes Bulgaria gypsy (Kalderas) - - - - 1 Johan den Dunnen
-?/. - c.-196+1241G>A r.(?) p.(=) Both (homozygous) - likely benign g.71039782G>A g.69280026G>A g.11027G>A (c.-249-2503G>A) - HK1_000022 - PubMed: Hantke 2009 - rs545102911 Germline - - - - - DNA RT-PCR, SEQ - - CMT patients PubMed: Hantke 2009 analysis 34 HMSNR patients F;M - - - - - - - 34 Johan den Dunnen
-/. - c.-196+1241G>A r.(?) p.(=) Both (homozygous) - benign g.71039782G>A g.69280026G>A g.11027G>A (c.-249-2503G>A) - HK1_000022 - PubMed: Brozkova 2016 - rs545102911 Germline - - - - - DNA SEQ - - CMT patients PubMed: Brozkova 2016 analysis 20 HMSNR patients from 16 families F;M - Czech Republic - - - - - 20 Johan den Dunnen
?/. - c.-196+1241G>A r.(?) p.(=) Both (homozygous) - VUS g.71039782G>A g.69280026G>A g.11027G>A - HK1_000022 - PubMed: Gabrikova 2016 - - Germline - - - - - DNA SEQ - - CMT Fam2PatIV1 PubMed: Gabrikova 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
?/. - c.-196+1241G>A r.(?) p.(=) Both (homozygous) - VUS g.71039782G>A g.69280026G>A g.11027G>A - HK1_000022 - PubMed: Gabrikova 2016 - - Germline - - - - - DNA SEQ - - CMT Fam4PatII1 PubMed: Gabrikova 2016 2-generation family, 1 affected, unaffected heterozygous carrier daughter/son F - Slovakia (Slovak Republic) - - - - - 1 Johan den Dunnen
-?/. - c.-19A>C r.(?) p.(=) Unknown - likely benign g.71048481A>C g.69288725A>C HK1(NM_001358263.1):c.-19A>C - HK1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4C>A r.(?) p.(=) Unknown - benign g.71048496C>A g.69288740C>A HK1(NM_033500.2):c.-145C>A - HK1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3G>A r.(?) p.(Met1?) Unknown ACMG VUS g.71048502G>A g.69288746G>A NM_001358263.1:c.3G>A - HK1_000119 ACMG PM2; not in 142 controls PubMed: Horbacz 2025 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES scoliosis Pat45 PubMed: Horbacz 2025 patient, affected mother and maternal grandmother F - Poland - - - - - 1 Johan den Dunnen
?/. - c.4G>A r.(?) p.(Gly2Arg) Unknown - VUS g.71048503G>A g.69288747G>A HK1(NM_001322364.2):c.4G>A (p.(Gly2Arg)) - HK1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.19C>T r.(?) p.(Arg7Ter) Both (homozygous) - pathogenic (recessive) g.71048518C>T g.69288762C>T NM_033498.3:c.19C>T (R7*) - HK1_000084 - PubMed: Kanwal 2021 - - Germline yes - - - - DNA SEQ - - CMT PaC4:IV-1 PubMed: Kanwal 2021 4-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes Pakistan - >11y - - - 1 Sarah El-Bestawi
+/. - c.19C>T r.(?) p.(Arg7Ter) Both (homozygous) - likely pathogenic (recessive) g.71048518C>T g.69288762C>T NM_001358263.1:c.19C>T Arg7Ter) - HK1_000084 - PubMed: Goleyjani Moghadam 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT FamPatII1 PubMed: Goleyjani Moghadam 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives F yes Iran - - - - - 1 Johan den Dunnen
?/. - c.20G>A r.(?) p.(Arg7Gln) Unknown - VUS g.71048519G>A g.69288763G>A HK1(NM_001322365.2):c.20G>A (p.R7Q) - HK1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.27+29_27+32dup r.(?) p.(=) Unknown - likely benign g.71048555_71048558dup g.69288799_69288802dup HK1(NM_001358263.1):c.27+26_27+29dupTTTC - HK1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28-3347T>A r.(?) p.(=) Unknown - benign g.71052042T>A g.69292286T>A HK1(NM_001322365.2):c.56T>A (p.L19Q) - HK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28-3318del r.(?) p.(=) Unknown - VUS g.71052071del g.69292315del HK1(NM_001322365.1):c.85delC (p.L29Sfs*44), HK1(NM_001322365.2):c.85del (p.(Leu29Serfs*44)) - HK1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28-3318del r.(?) p.(=) Unknown - likely benign g.71052071del g.69292315del HK1(NM_001322365.1):c.85delC (p.L29Sfs*44), HK1(NM_001322365.2):c.85del (p.(Leu29Serfs*44)) - HK1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28-3306C>T r.(?) p.(=) Unknown - benign g.71052083C>T g.69292327C>T HK1(NM_033500.2):c.-114-3306C>T - HK1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28-3278G>A r.(?) p.(=) Unknown - likely benign g.71052111G>A g.69292355G>A HK1(NM_001322365.2):c.120+5G>A - HK1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.28G>T r.(?) p.(Ala10Ser) Unknown - benign g.71055389G>T g.69295633G>T HK1(NM_001322365.1):c.121G>T (p.A41S), HK1(NM_001358263.1):c.28G>T (p.A10S) - HK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.28G>T r.(?) p.(Ala10Ser) Unknown - likely benign g.71055389G>T g.69295633G>T HK1(NM_001322365.1):c.121G>T (p.A41S), HK1(NM_001358263.1):c.28G>T (p.A10S) - HK1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75+5G>A r.spl? p.? Unknown - VUS g.71055441G>A g.69295685G>A HK1(NM_001322365.1):c.168+5G>A - HK1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+16T>C r.(?) p.(=) Unknown - benign g.71055452T>C g.69295696T>C HK1(NM_001322365.1):c.168+16T>C, HK1(NM_033500.2):c.-67+16T>C - HK1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75+16T>C r.(?) p.(=) Unknown - likely benign g.71055452T>C g.69295696T>C HK1(NM_001322365.1):c.168+16T>C, HK1(NM_033500.2):c.-67+16T>C - HK1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+23del r.(?) p.(=) Unknown - benign g.71055459del g.69295703del HK1(NM_001322365.1):c.168+23delT, HK1(NM_033500.2):c.-67+23delT - HK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75+23del r.(?) p.(=) Unknown - likely benign g.71055459del g.69295703del HK1(NM_001322365.1):c.168+23delT, HK1(NM_033500.2):c.-67+23delT - HK1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+23dup r.(?) p.(=) Unknown - benign g.71055459dup g.69295703dup HK1(NM_001322365.1):c.168+23dupT, HK1(NM_033500.2):c.-67+23dupT - HK1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75+23dup r.(?) p.(=) Unknown - likely benign g.71055459dup g.69295703dup HK1(NM_001322365.1):c.168+23dupT, HK1(NM_033500.2):c.-67+23dupT - HK1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+5079C>G r.(?) p.(=) Unknown - benign g.71060515C>G g.69300759C>G HK1(NM_033500.2):c.-66-10C>G - HK1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75+5174A>G r.(?) p.(=) Unknown - VUS g.71060610A>G g.69300854A>G - - HK1_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs906220 Germline - 5/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 5 Yoshito Koyanagi
?/. - c.75+5174A>G r.(?) p.(=) Both (homozygous) - VUS g.71060610A>G g.69300854A>G - - HK1_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs906220 Germline - 1198/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1198 Yoshito Koyanagi
-/. - c.75+5174A>G r.(?) p.(=) Unknown - benign g.71060610A>G g.69300854A>G HK1(NM_033500.2):c.20A>G (p.H7R) - HK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+5174A>G r.(?) p.(=) Unknown - benign g.71060610A>G g.69300854A>G HK1(NM_033500.2):c.20A>G (p.H7R) - HK1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+5185C>T r.(?) p.(=) Unknown - benign g.71060621C>T g.69300865C>T HK1(NM_033500.2):c.27+4C>T - HK1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75+5185C>T r.(?) p.(=) Unknown - VUS g.71060621C>T g.69300865C>T - - HK1_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs1108272 Germline - 589/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 589 Yoshito Koyanagi
?/. - c.75+5185C>T r.(?) p.(=) Both (homozygous) - VUS g.71060621C>T g.69300865C>T - - HK1_000027 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs1108272 Germline - 266/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 266 Yoshito Koyanagi
-/. - c.75+5186G>A r.(?) p.(=) Unknown - benign g.71060622G>A g.69300866G>A HK1(NM_033500.2):c.27+5G>A - HK1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75+5188A>C r.(?) p.(=) Unknown - likely benign g.71060624A>C g.69300868A>C HK1(NM_033500.2):c.27+7A>C - HK1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+5198G>A r.(?) p.(=) Unknown - benign g.71060634G>A g.69300878G>A HK1(NM_033500.2):c.27+17G>A - HK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75+5198G>A r.(?) p.(=) Unknown - benign g.71060634G>A g.69300878G>A HK1(NM_033500.2):c.27+17G>A - HK1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75+20082A>G r.(?) p.(=) Unknown - likely benign g.71075518A>G g.69315762A>G HK1(NM_033500.2):c.27+14901A>G - HK1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.75+20308C>T r.(?) p.(=) Unknown ACMG pathogenic (dominant) g.71075744C>T g.69315988C>T NM_001322365.1:c.34C>T (R12X) - HK1_000100 ACMG PVS1,PM2,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat122 PubMed: Chuan 2022 - M - China - - - - - 1 Johan den Dunnen
?/. - c.75+20308C>T r.(?) p.(=) Unknown - VUS g.71075744C>T g.69315988C>T HK1(NM_033496.3):c.34C>T (p.(Arg12Ter)) - HK1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75+23303G>T r.(?) p.(=) Unknown - likely benign g.71078739G>T g.69318983G>T HK1(NM_000188.3):c.36G>T (p.T12=) - HK1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.90C>G r.(?) p.(Leu30=) Unknown - benign g.71103597C>G g.69343841C>G HK1(NM_033500.2):c.42C>G (p.L14=) - HK1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.210A>T r.(?) p.(Thr70=) Unknown - benign g.71103717A>T g.69343961A>T HK1(NM_033500.2):c.162A>T (p.T54=) - HK1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.234C>T r.(?) p.(Gly78=) Unknown - benign g.71103741C>T g.69343985C>T HK1(NM_033500.2):c.186C>T (p.G62=) - HK1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239-20C>T r.(?) p.? Unknown - likely benign g.71119633C>T g.69359877C>T HK1(NM_001322365.2):c.332-20C>T - HK1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.262G>A r.(?) p.(Asp88Asn) Unknown ACMG VUS g.71119676G>A g.69359920G>A - - HK1_000101 ACMG PP3, PM2, PP2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - De novo - - - - - DNA SEQ-NG - WGS ? SRP-1122 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.347A>G r.(?) p.(Tyr116Cys) Unknown - VUS g.71119761A>G g.69360005A>G HK1(NM_000188.3):c.335A>G (p.(Tyr112Cys)) - HK1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364A>G r.(?) p.(Ile122Val) Unknown - VUS g.71119778A>G g.69360022A>G - - HK1_000030 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.372C>T r.(?) p.(His124=) Unknown - benign g.71119786C>T g.69360030C>T HK1(NM_033500.2):c.324C>T (p.H108=) - HK1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421T>A r.(?) p.(Phe141Ile) Unknown - VUS g.71124572T>A g.69364816T>A - - HK1_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.492A>G r.(?) p.(Gln164=) Unknown - benign g.71124643A>G g.69364887A>G HK1(NM_001322365.2):c.585A>G (p.Q195=) - HK1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.507G>A r.(?) p.(Glu169=) Unknown - likely benign g.71124658G>A g.69364902G>A HK1(NM_001322365.2):c.600G>A (p.E200=) - HK1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.526A>T r.(?) p.(Thr176Ser) Unknown - VUS g.71128310A>T g.69368554A>T HK1(NM_000188.3):c.514A>T (p.T172S) - HK1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Ala181=) Unknown - likely benign g.71128327G>A g.69368571G>A HK1(NM_001322365.1):c.636G>A (p.A212=), HK1(NM_033500.2):c.495G>A (p.A165=) - HK1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Ala181=) Unknown - likely benign g.71128327G>A g.69368571G>A HK1(NM_001322365.1):c.636G>A (p.A212=), HK1(NM_033500.2):c.495G>A (p.A165=) - HK1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546C>T r.(?) p.(Ser182=) Unknown - likely benign g.71128330C>T g.69368574C>T HK1(NM_001322365.1):c.639C>T (p.S213=), HK1(NM_001322365.2):c.639C>T (p.S213=), HK1(NM_033500.2):c.498C>T (p.S166=) - HK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.546C>T r.(?) p.(Ser182=) Unknown - likely benign g.71128330C>T g.69368574C>T HK1(NM_001322365.1):c.639C>T (p.S213=), HK1(NM_001322365.2):c.639C>T (p.S213=), HK1(NM_033500.2):c.498C>T (p.S166=) - HK1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.617A>G r.(?) p.(Asn206Ser) Unknown - VUS g.71129006A>G g.69369250A>G HK1(NM_001322365.1):c.710A>G (p.N237S) - HK1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.638A>G r.(?) p.(Asp213Gly) Unknown - likely pathogenic g.71129027A>G g.69369271A>G HK1 c.626A>G, p.Asp209Gly - HK1_000082 heterozygous PubMed: Thorsteinsson 2021 - - Unknown ? - - - - DNA SEQ-NG - retrospective analysis retinal disease RP4 PubMed: Thorsteinsson 2021 - ? - Iceland - - - - - 1 LOVD
?/. - c.643G>C r.(?) p.(Val215Leu) Unknown ACMG VUS g.71129032G>C g.69369276G>C - - HK1_000102 ACMG PP3, PM2, PP2; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-409 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
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