Full data view for gene HK1

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

187 entries on 2 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.-40237G>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.-40237G>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.-40225dup r.(?) p.(=) Unknown - benign g.71038479dup - HK1(NM_001358263.1):c.-258dupT - HK1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38922G>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.-30223A>C r.(?) p.(=) Unknown - likely benign g.71048481A>C - HK1(NM_001358263.1):c.-19A>C - HK1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30208C>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.-30201G>A r.(?) p.(=) Unknown - VUS g.71048503G>A - HK1(NM_001322364.2):c.4G>A (p.(Gly2Arg)) - HK1_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-30186C>T r.(=) p.(=) 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.-30185G>A r.(?) p.(=) Unknown - VUS g.71048519G>A - HK1(NM_001322365.2):c.20G>A (p.R7Q) - HK1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30149_-30146dup 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.-26662T>A r.(?) p.(=) Unknown - benign g.71052042T>A - HK1(NM_001322365.2):c.56T>A (p.L19Q) - HK1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26633del r.(?) p.(=) Unknown - VUS g.71052071del - 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.-26633del r.(?) p.(=) Unknown - likely benign g.71052071del - 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.-26621C>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.-26593G>A r.(?) p.(=) Unknown - likely benign g.71052111G>A - HK1(NM_001322365.2):c.120+5G>A - HK1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-23315G>T r.(?) p.(=) 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.-23315G>T r.(?) p.(=) Unknown - likely benign g.71055389G>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.-23263G>A r.(?) 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.-23252T>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.-23252T>C r.(?) p.(=) Unknown - likely benign g.71055452T>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.-23245del 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.-23245del 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.-23245dup 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.-23245dup r.(?) p.(=) Unknown - likely benign g.71055459dup - HK1(NM_001322365.1):c.168+23dupT, HK1(NM_033500.2):c.-67+23dupT - HK1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18189C>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.-18094A>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.-18094A>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.-18083C>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.-18082G>A r.(?) p.(=) Unknown - benign g.71060622G>A - HK1(NM_033500.2):c.27+5G>A - HK1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-18080A>C r.(?) p.(=) Unknown - likely benign g.71060624A>C - HK1(NM_033500.2):c.27+7A>C - HK1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-18070G>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.-18070G>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.-3186A>G r.(?) p.(=) Unknown - likely benign g.71075518A>G - HK1(NM_033500.2):c.27+14901A>G - HK1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-2960C>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.-2960C>T r.(?) p.(=) Unknown - VUS g.71075744C>T - HK1(NM_033496.3):c.34C>T (p.(Arg12Ter)) - HK1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36G>T r.(?) p.(Thr12=) 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.78C>G r.(?) p.(Leu26=) 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.198A>T r.(?) p.(Thr66=) 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.222C>T r.(?) p.(Gly74=) 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.227-20C>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.250G>A r.(?) p.(Asp84Asn) 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.352A>G r.(?) p.(Ile118Val) 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.360C>T r.(?) p.(His120=) 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.409T>A r.(?) p.(Phe137Ile) 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.480A>G r.(?) p.(Gln160=) Unknown - benign g.71124643A>G - HK1(NM_001322365.2):c.585A>G (p.Q195=) - HK1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495G>A r.(?) p.(Glu165=) Unknown - likely benign g.71124658G>A - HK1(NM_001322365.2):c.600G>A (p.E200=) - HK1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514A>T r.(?) p.(Thr172Ser) Unknown - VUS g.71128310A>T - HK1(NM_000188.3):c.514A>T (p.T172S) - HK1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531G>A r.(?) p.(Ala177=) 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.531G>A r.(?) p.(Ala177=) Unknown - likely benign g.71128327G>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.534C>T r.(?) p.(Ser178=) 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.534C>T r.(?) p.(Ser178=) 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.605A>G r.(?) p.(Asn202Ser) Unknown - VUS g.71129006A>G - HK1(NM_001322365.1):c.710A>G (p.N237S) - HK1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.626A>G r.(?) p.(Asp209Gly) 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.631G>C r.(?) p.(Val211Leu) 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
-/. - c.691+13C>T r.(=) p.(=) Unknown - benign g.71129105C>T g.69369349C>T HK1(NM_033500.2):c.655+13C>T - HK1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.692-3C>T r.spl? p.? Unknown - benign g.71129194C>T g.69369438C>T HK1(NM_033500.2):c.656-3C>T - HK1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.692-3C>T r.spl? p.? Unknown - VUS g.71129194C>T g.69369438C>T - - HK1_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs41279656 Germline - 270/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 270 Yoshito Koyanagi
?/. - c.692-3C>T r.spl? p.? Both (homozygous) - VUS g.71129194C>T g.69369438C>T - - HK1_000006 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs41279656 Germline - 27/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 27 Yoshito Koyanagi
?/. - c.742G>C r.(?) p.(Val248Leu) Unknown - VUS g.71129247G>C g.69369491G>C HK1(NM_001322365.1):c.847G>C (p.V283L) - HK1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753C>T r.(?) p.(Asp251=) Unknown - likely benign g.71129258C>T g.69369502C>T HK1(NM_001322365.1):c.858C>T (p.D286=) - HK1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804A>T r.(?) p.(Gly268=) Unknown - likely benign g.71129309A>T g.69369553A>T HK1(NM_033500.2):c.768A>T (p.G256=) - HK1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.828G>A r.(?) p.(Glu276=) Unknown - benign g.71129333G>A g.69369577G>A HK1(NM_001322365.1):c.933G>A (p.E311=), HK1(NM_033500.2):c.792G>A (p.E264=) - HK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828G>A r.(?) p.(Glu276=) Unknown - likely benign g.71129333G>A g.69369577G>A HK1(NM_001322365.1):c.933G>A (p.E311=), HK1(NM_033500.2):c.792G>A (p.E264=) - HK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.828G>A r.(?) p.(Glu276=) Unknown - likely benign g.71129333G>A - HK1(NM_001322365.1):c.933G>A (p.E311=), HK1(NM_033500.2):c.792G>A (p.E264=) - HK1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.854C>T r.(?) p.(Ser285Phe) Unknown - VUS g.71129359C>T - HK1(NM_001322365.1):c.959C>T (p.S320F), HK1(NM_001322365.2):c.959C>T (p.S320F) - HK1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.854C>T r.(?) p.(Ser285Phe) Unknown - VUS g.71129359C>T - HK1(NM_001322365.1):c.959C>T (p.S320F), HK1(NM_001322365.2):c.959C>T (p.S320F) - HK1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.863C>T r.(?) p.(Pro288Leu) Unknown - VUS g.71129368C>T - HK1(NM_000188.3):c.863C>T (p.P288L) - HK1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.875+1G>A r.spl? p.? Unknown - VUS g.71129381G>A g.69369625G>A HK1(NM_033500.2):c.839+1G>A - HK1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876-16G>T r.(=) p.(=) Unknown - likely benign g.71136674G>T g.69376918G>T HK1(NM_033500.2):c.840-16G>T - HK1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.968G>A r.(?) p.(Arg323Gln) Unknown - benign g.71136782G>A g.69377026G>A HK1(NM_033500.2):c.932G>A (p.R311Q) - HK1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>A r.(?) p.(Thr336Asn) Unknown - VUS g.71136821C>A g.69377065C>A HK1(NM_033500.2):c.971C>A (p.T324N) - HK1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1031+6T>C r.(=) p.(=) Unknown - benign g.71136851T>C - HK1(NM_001322365.2):c.1136+6T>C - HK1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031+7A>G r.(=) p.(=) Unknown - likely benign g.71136852A>G - HK1(NM_001322365.1):c.1136+7A>G - HK1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1092C>T r.(?) p.(Ser364=) Unknown - likely benign g.71139678C>T - HK1(NM_001322365.2):c.1197C>T (p.S399=) - HK1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120G>A r.(?) p.(Val374Ile) Unknown - VUS g.71139706G>A g.69379950G>A - - HK1_000032 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs761213475 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.1193G>A r.(?) p.(Arg398His) Unknown - VUS g.71139779G>A - HK1(NM_000188.3):c.1193G>A (p.R398H) - HK1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1196A>G r.(?) p.(Asp399Gly) Unknown - VUS g.71139782A>G g.69380026A>G - - HK1_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
?/. - c.1226C>T r.(?) p.(Thr409Met) Unknown - VUS g.71139812C>T - HK1(NM_000188.2):c.1226C>T (p.(Thr409Met)) - HK1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1227G>A r.(?) p.(Thr409=) Unknown - likely benign g.71139813G>A - HK1(NM_001322365.2):c.1332G>A (p.T444=) - HK1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236C>T r.(?) p.(Val412=) Unknown - likely benign g.71139822C>T g.69380066C>T HK1(NM_001322365.1):c.1341C>T (p.V447=), HK1(NM_033500.2):c.1200C>T (p.V400=) - HK1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1236C>T r.(?) p.(Val412=) Unknown - likely benign g.71139822C>T g.69380066C>T HK1(NM_001322365.1):c.1341C>T (p.V447=), HK1(NM_033500.2):c.1200C>T (p.V400=) - HK1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1240G>A r.(?) p.(Gly414Arg) Unknown - likely pathogenic g.71139826G>A - - - HK1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1241G>A r.(?) p.(Gly414Glu) Unknown - likely pathogenic g.71139827G>A g.69380071G>A HK1 c.1241G>A, p.(Gly414Glu) - HK1_000086 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 1 PubMed: Okur 2019 - F - - - - - - - 1 LOVD
+?/. - c.1252A>G r.(?) p.(Lys418Glu) Unknown - likely pathogenic g.71139838A>G g.69380082A>G HK1 c.1252A>G, p.(Lys418Glu) - HK1_000087 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 2 PubMed: Okur 2019 - F - - - - - - - 1 LOVD
-/. - c.1265+19A>G r.(=) p.(=) Unknown - benign g.71139870A>G g.69380114A>G HK1(NM_001322365.1):c.1370+19A>G, HK1(NM_033500.2):c.1229+19A>G - HK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1265+19A>G r.(=) p.(=) Unknown - likely benign g.71139870A>G - HK1(NM_001322365.1):c.1370+19A>G, HK1(NM_033500.2):c.1229+19A>G - HK1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1266G>T r.(?) p.(Gln422His) Unknown - VUS g.71142243G>T - HK1(NM_000188.3):c.1266G>T (p.Q422H) - HK1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1277G>A r.(?) p.(Arg426His) Unknown - VUS g.71142254G>A - HK1(NM_000188.3):c.1277G>A (p.R426H) - HK1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1327C>T r.(?) p.(Leu443Phe) Unknown - VUS g.71142304C>T g.69382548C>T - - HK1_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs774586043 Germline - 2/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 2 Yoshito Koyanagi
+/. - c.1334C>T r.(?) p.(Ser445Leu) Unknown - pathogenic g.71142311C>T g.69382555C>T - - HK1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1334C>T r.(?) p.(Ser445Leu) Unknown ACMG pathogenic g.71142311C>T g.69382555C>T HK1, gene that can display both dominant and recessive patterns of inheritance, c.1346C>T, p.Ser449Leu, heterozygous - HK1_000050 different transcript: NM_033497.2(HK1):c.1346C>T, p.(Ser449Leu), homozygous PubMed: Perea-Romero 2021 - - De novo yes - - - - DNA ? - whole exome sequencing retinal disease RP-2176 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.1334C>T r.(?) p.(Ser445Leu) Unknown - likely pathogenic g.71142311C>T g.69382555C>T HK1 c.1334C>T, p.(Ser445Leu) - HK1_000050 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 3 PubMed: Okur 2019 - M - - - - - - - 1 LOVD
+?/. - c.1334C>T r.(?) p.(Ser445Leu) Unknown - likely pathogenic g.71142311C>T g.69382555C>T HK1 c.1334C>T, p.(Ser445Leu) - HK1_000050 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 4 PubMed: Okur 2019 - M - - - - - - - 1 LOVD
+/. - c.1334C>T r.(?) p.(Ser445Leu) Parent #1 ACMG pathogenic g.71142311C>T g.69382555C>T - - HK1_000050 ACMG PP3, PM2, PP2, PP5_STRONG PubMed: Weisschuh 2024 421007 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1264 PubMed: Weisschuh 2024 patient M - Germany - - - - - 1 Johan den Dunnen
+/. - c.1334C>T r.(?) p.(Ser445Leu) Unknown - pathogenic g.71142311C>T - - - HK1_000050 - - - rs1064794848 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1370C>T r.(?) p.(Thr457Met) Unknown - likely pathogenic g.71142347C>T g.69382591C>T HK1 c.1370C>T, p.(Thr457Met) - HK1_000088 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 5 PubMed: Okur 2019 - M - - - - - - - 1 LOVD
+?/. - c.1370C>T r.(?) p.(Thr457Met) Unknown - likely pathogenic g.71142347C>T g.69382591C>T HK1 c.1370C>T, p.(Thr457Met) - HK1_000088 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 6 PubMed: Okur 2019 - M - - - <1y - - - 1 LOVD
+?/. - c.1370C>T r.(?) p.(Thr457Met) Unknown - likely pathogenic g.71142347C>T g.69382591C>T HK1 c.1370C>T, p.(Thr457Met) - HK1_000088 de novo heterozygous PubMed: Okur 2019 - - De novo ? - - - - DNA SEQ-NG, SEQ blood - NEDVIBA Patient 7 PubMed: Okur 2019 - F - - - <1y - - - 1 LOVD
-?/. - c.1392C>G r.(?) p.(Ala464=) Unknown - likely benign g.71142369C>G - HK1(NM_001322365.1):c.1497C>G (p.A499=) - HK1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1433A>G r.(?) p.(His478Arg) Unknown - VUS g.71142410A>G g.69382654A>G HK1(NM_001322365.1):c.1538A>G (p.H513R), HK1(NM_033500.2):c.1397A>G (p.H466R) - HK1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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