Full data view for gene MAK

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005906.4 transcript reference sequence.

230 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.1466-424_*1729{0} r.? p.? Parent #1 - likely pathogenic g.10760973_10776116del - del ex12-15, chr6:10760973-10776116del - MAK_000083 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 276 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.? r.spl p.? Both (homozygous) - likely pathogenic g.? - K429insAlu (homozygous) - LAMA2_000000 - PubMed: Hariri 2018 - - Germline ? - - - - DNA SEQ - retrospective analysis retinal disease - PubMed: Hariri 2018 - ? - - - - - - - 1 LOVD
+/. 14 c.? r.(?) p.? Unknown - pathogenic (recessive) g.10764732G>A - c.1825C>T:p.Q609X - LAMA2_000000 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+?/. - c.? r.(?) p.(Ser551fs) Both (homozygous) - likely pathogenic g.? g.? RPGR p.S551fs - LAMA2_000000 no nucleotide annotation, no possibility of extrapolation from protein and databases; heterozygous PubMed: Jacobson 2014 - - Unknown ? - - - - DNA ? - - retinal disease P9 PubMed: Jacobson 2014 - M - United States - - - - - 1 LOVD
?/. - c.8G>A r.(?) p.(Arg3Gln) Unknown - VUS g.10830874C>T g.10830641C>T - - MAK_000094 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 60 PubMed: Wang 2014 - F - United States - - - - - 1 LOVD
-/. - c.28T>C r.(?) p.(Leu10=) Unknown - benign g.10830854A>G g.10830621A>G MAK(NM_001242957.3):c.28T>C (p.L10=) - MAK_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.32G>A r.(?) p.(Gly11Glu) Unknown - VUS g.10830850C>T - - - MAK_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.36C>T r.(?) p.(Asp12=) Unknown - likely benign g.10830846G>A g.10830613G>A MAK(NM_001242957.2):c.36C>T (p.D12=) - MAK_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.37G>A r.(?) p.(Gly13Ser) Both (homozygous) - pathogenic (recessive) g.10830845C>T - - - MAK_000070 - PubMed: Ozgul 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam027775 PubMed: Ozgul 2011 2-generation family, 1 affected, unaffected parents F yes Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.66G>C r.(?) p.(Lys22Asn) Parent #1 - likely pathogenic g.10830816C>G g.10830583C>G - - MAK_000085 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 43 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.66G>Y r.(?) p.(Lys22Asn) Parent #2 - pathogenic (recessive) g.10830816C>R - Lys22Asn - MAK_000074 - PubMed: Stone 2011 - - Germline - - - - - DNA SEQ - - retinal disease Pat23 PubMed: Stone 2011 - M - United States - - - - - 1 Johan den Dunnen
?/. - c.79G>A r.(?) p.(Gly27Arg) Unknown - VUS g.10830803C>T g.10830570C>T - - MAK_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79G>A r.79g>a p.Gly27Arg Parent #1 - pathogenic (recessive) g.10830803C>T g.10830570C>T - - MAK_000016 unknown variant 2nd chromosome, no mRNA detectable PubMed: Ozgul 2011 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease Fam012115 PubMed: Ozgul 2011 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. 2 c.79G>A r.(?) p.(Gly27Arg) Both (homozygous) - pathogenic (recessive) g.10830803C>T - c.79G>A - MAK_000016 - PubMed: Colombo-2020 - rs754916169 Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M yes - - - - - - 1 LOVD
+/. - c.79G>C r.(?) p.(Gly27Arg) Paternal (inferred) - pathogenic (recessive) g.10830803C>G g.10830570C>G - - MAK_000078 - PubMed: Ozgul 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam038230 PubMed: Ozgul 2011 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.79G>C r.(?) p.(Gly27Arg) Both (homozygous) - likely pathogenic (recessive) g.10830803C>G g.10830570C>G - - MAK_000078 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease ARRP230 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.79G>C r.(?) p.(Gly27Arg) Parent #1 - likely pathogenic g.10830803C>G g.10830570C>G MAK, variant 1: c.79G>C /p.G27R, variant 2: c.79G>C /p.G27R - MAK_000078 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 644 PubMed: Weisschuh 2020 Filing key number: 230, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.97A>C r.(?) p.(Lys33Gln) Unknown - VUS g.10830785T>G g.10830552T>G - - MAK_000050 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.97A>G r.(?) p.(Lys33Glu) Unknown - VUS g.10830785T>C g.10830552T>C - - MAK_000049 - 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
+/. 2i c.101+1G>T r.spl? p.? Unknown - pathogenic (recessive) g.10830780C>A - c.101+1G>T - MAK_000109 - PubMed: Colombo-2020 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Colombo-2020 - M no - - - - - - 1 LOVD
?/. - c.101+4C>G r.spl? p.? Unknown - VUS g.10830777G>C g.10830544G>C - - MAK_000048 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs766244428 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
+?/. 2i_3i c.(101+1_102-1)_(156+1_157-1)del r.? p.? Both (homozygous) - likely pathogenic g.(10818205_10819118)_(10819174_10830780)del - chr6:10819114–10819178 - MAK_000105 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 14020104 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.112A>C r.(?) p.(Lys38Gln) Unknown - VUS g.10819163T>G g.10818930T>G - - MAK_000082 - PubMed: Bryant 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease JB274 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.174T>G r.(?) p.(Asn58Lys) Unknown - VUS g.10818187A>C g.10817954A>C MAK(NM_001242957.3):c.174T>G (p.N58K) - MAK_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.174T>G r.(?) p.(Asn58Lys) Parent #1 - VUS g.10818187A>C g.10817954A>C - - MAK_000013 heterozygous variant only PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WGS retinal disease FamGC3626Pat2 PubMed: Arno 2017 2-generation family, 1 affeted M - - - - - - - 1 Johan den Dunnen
+?/. - c.175C>T r.(?) p.(His59Tyr) Parent #2 - likely pathogenic g.10818186G>A g.10817953G>A - - MAK_000081 - PubMed: Maeda 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat34 PubMed: Maeda 2018 patient, no family history M - Japan - - - - - 1 LOVD
?/. - c.269T>G r.(?) p.(Met90Arg) Unknown - VUS g.10818092A>C - MAK(NM_001242957.2):c.269T>G (p.M90R) - MAK_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.279-2A>G r.spl p.? Parent #2 - pathogenic (recessive) g.10813958T>C - - - MAK_000076 - PubMed: Gray 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 111 gene panel retinal disease patient PubMed: Gray 2018 4-generation family, 1 affected F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.323A>G r.(?) p.(Gln108Arg) Parent #1 - likely pathogenic g.10813912T>C g.10813679T>C - - MAK_000080 - PubMed: Maeda 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - 39-gene panel retinal disease Pat34 PubMed: Maeda 2018 patient, no family history M - Japan - - - - - 1 LOVD
+?/. - c.340dup r.(?) p.(Ala114GlyfsTer5) Parent #2 - likely pathogenic g.10813896dup g.10813663dup 340dupG - MAK_000092 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6401 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+/. - c.341dup r.(?) p.(Ile116Tyrfs*3) Unknown - pathogenic g.10813894dup g.10813661dup - - MAK_000047 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236082 Germline - 4/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 4 Yoshito Koyanagi
+/. - c.341dup r.(?) p.(Ile116Tyrfs*3) Both (homozygous) - pathogenic g.10813894dup g.10813661dup - - MAK_000047 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236082 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.350A>G r.(?) p.(His117Arg) Unknown - VUS g.10813885T>C g.10813652T>C - - MAK_000046 - 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.358+9_358+13del r.(=) p.(=) Unknown - likely benign g.10813867_10813871del g.10813634_10813638del MAK(NM_001242957.3):c.358+9_358+13delCTTTT - MAK_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.359-18del r.(=) p.(=) Unknown - benign g.10809201del g.10808968del MAK(NM_001242957.3):c.359-18delT - MAK_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.359-13G>A r.(=) p.(=) Unknown - likely benign g.10809188C>T g.10808955C>T MAK(NM_001242957.3):c.359-13G>A - MAK_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.359-2A>G r.spl p.(?) Unknown ACMG pathogenic g.10809177T>C g.10808944T>C - - MAK_000096 - Tracewska 2021, MolVis in press - - Germline - 0 (in-house database, ~5000 samples) - - - DNA SEQ-NG-I, SEQ blood targeted resequencing using MIPs library prep, 108-gene panel retinal disease 248 Tracewska 2021, MolVis in press proband M no Poland Slavic - - yes - 1 LOVD
?/. - c.368A>G r.(?) p.(His123Arg) Both (homozygous) - VUS g.10809166T>C g.10808933T>C - - MAK_000045 - 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.368A>T r.(?) p.(His123Leu) Unknown - VUS g.10809166T>A g.10808933T>A - - MAK_000044 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1203 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
+/. - c.388A>C r.(?) p.(Asn130His) Both (homozygous) - pathogenic (recessive) g.10809146T>G g.10808913T>G - - MAK_000073 - PubMed: Ozgul 2011 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam009539 PubMed: Ozgul 2011 2-generation family, 5 affected (2F, 3M), unaffected heterozygous carrier parents/relatives F;M yes Netherlands - - - - - 5 Johan den Dunnen
+/. - c.388A>C r.(?) p.(Asn130His) Parent #1 - pathogenic (recessive) g.10809146T>G - Asn130His - MAK_000073 - PubMed: Stone 2011 - - Germline - - - - - DNA SEQ - - retinal disease Pat23 PubMed: Stone 2011 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.388A>C r.(?) p.(Asn130His) Parent #2 - likely pathogenic g.10809146T>G g.10808913T>G - - MAK_000073 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 43 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+/. - c.393delinsACCTT r.(?) p.(Leu132Profs*13) Parent #1 ACMG pathogenic (recessive) g.10809141delinsAAGGT - - - MAK_000067 - PubMed: Kimchi 2018, PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease TB320 PubMed: Kimchi 2018, PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
?/. - c.394_395insCTTC r.(?) p.(Leu132Profs*13) Unknown - VUS g.10809140_10809141insAAGG g.10808907_10808908insAAGG MAK c.394_395insCTTC, p.Leu132ProfsTer13 - MAK_000104 unsolved PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2969_004554 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 5 c.437T>C r.(?) p.(Leu146Pro) Unknown - likely pathogenic g.10809097A>G g.10808864A>G MAK Ex.5 c.437T>C p.(Leu146Pro), IVS13 c.1793-2A>T p.(?) - MAK_000103 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-0825 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
?/. - c.457C>G r.(?) p.(Gln153Glu) Unknown - VUS g.10809077G>C g.10808844G>C - - MAK_000043 - 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.475del r.(?) p.(Tyr159MetfsTer14) Both (homozygous) ACMG pathogenic (recessive) g.10809060del g.10808827del - - MAK_000117 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 1184969 - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-476 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.485C>T r.(?) p.(Thr162Ile) Parent #2 - likely pathogenic g.10809049G>A g.10808816G>A - - MAK_000084 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 276 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.496C>T r.(?) p.(Arg166Cys) Both (homozygous) - likely pathogenic g.10804120G>A g.10803887G>A - - MAK_000091 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6311 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. 7 c.497G>A r.(?) p.(Arg166His) Both (homozygous) - likely pathogenic (recessive) g.10804119C>T g.10803886C>T - - MAK_000021 - PubMed: Ozgul 2011, PubMed: Sharon 2019 - - Germline yes 2/2420 IRD families - - - DNA SEQ - - retinal disease MOL0708PatII4 PubMed: Ozgul 2011, PubMed: Sharon 2019 2-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents F yes Israel Jewish-Oriental - - - - 3 Dror Sharon
+/. - c.497G>A r.(?) p.(Arg166His) Unknown ACMG pathogenic g.10804119C>T - - - MAK_000021 - PubMed: Sharon 2019 - - Germline - 2/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 2 IRD families - - Israel - - - - - 2 Global Variome, with Curator vacancy
+?/. - c.502C>G r.(?) p.(Pro168Ala) Unknown ACMG VUS g.10804114G>C - - - MAK_000097 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SS_0037 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.512T>C r.(?) p.(Leu171Ser) Unknown - VUS g.10804104A>G g.10803871A>G - - MAK_000042 - 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
?/. 7 c.512T>C r.(?) p.(Leu171Ser) Unknown - VUS g.10804104A>G - c.512T>C:p.L171S - MAK_000042 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
+/. - c.542T>C r.(?) p.(Ile181Thr) Maternal (confirmed) - pathogenic (recessive) g.10804074A>G - - - MAK_000071 - PubMed: Ozgul 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Fam038230 PubMed: Ozgul 2011 2-generation family, 1 affected, unaffected parents F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.551G>A r.(?) p.(Trp184*) Unknown - pathogenic g.10804065C>T g.10803832C>T - - MAK_000041 - 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.552G>C r.(?) p.(Trp184Cys) Both (homozygous) - likely pathogenic g.10804064C>G g.10803831C>G - - MAK_000089 - PubMed: Huang 2015 - - Germline yes - - - - DNA SEQ-NG - 284 gene panel retinal disease H3-1 PubMed: Huang 2015 - F - China - - - - - 1 LOVD
+/. - c.553G>A r.(?) p.(Ala185Thr) Unknown - pathogenic g.10804063C>T g.10803830C>T - - MAK_000040 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236080 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.553G>A r.(?) p.(Ala185Thr) Parent #1 - pathogenic (recessive) g.10804063C>T g.10803830C>T - - MAK_000040 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP298 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+?/. - c.553G>A r.(?) p.(Ala185Thr) Both (homozygous) - likely pathogenic g.10804063C>T g.10803830C>T - - MAK_000040 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6197 PubMed: Oishi 2014 family - - Japan - - - - - 1 LOVD
+?/. - c.553G>A r.(?) p.(Ala185Thr) Parent #1 - likely pathogenic g.10804063C>T g.10803830C>T - - MAK_000040 - PubMed: Oishi 2014 - - Germline - - - - - DNA SEQ-NG - 193-gene panel retinal disease K6401 PubMed: Oishi 2014 simplex case - - Japan - - - - - 1 LOVD
+?/. - c.553G>A r.(?) p.(Ala185Thr) Unknown ACMG VUS g.10804063C>T - - - MAK_000040 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - RP IR_SS_0037 - - F - Korea, South (Republic) - - - - - 1 Jinu Han
?/. - c.561_563dup r.(?) p.(Gly187_Ser188insArg) Unknown - VUS g.10804054_10804056dup g.10803821_10803823dup - - MAK_000039 - 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.565A>G r.(?) p.(Ile189Val) Unknown - VUS g.10804051T>C g.10803818T>C - - MAK_000038 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs56215624 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
?/. - c.565A>G r.(?) p.(Ile189Val) Unknown - VUS g.10804051T>C g.10803818T>C MAK(NM_001242957.2):c.565A>G (p.I189V) - MAK_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 6 c.565A>G r.(?) p.(Ile189Val) Unknown ACMG VUS g.10804051T>C g.10803818T>C c.565A>G - MAK_000038 single heterozygous variant in a recessive gene, probably not causative in the patient PubMed: Hosono 2018 - rs56215624 Germline no - - - - DNA SEQ-NG blood Targeted next-generation sequencing, CEP290 intronic variant c.2991 +1655A>, G, PCR for RPGRIP1 exon 17 deletion, CCT2, CLUAP1, DTHD1, GDF6, and IFT140 seuqencing retinal disease EYE17 PubMed: Hosono 2018 proband, family EYE17 F no Japan Asian - - - - 1 LOVD
?/. - c.637T>C r.(?) p.(Cys213Arg) Unknown - VUS g.10803979A>G g.10803746A>G - - MAK_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.637T>C r.(?) p.(Cys213Arg) Both (homozygous) - VUS g.10803979A>G - c.637T>C - MAK_000015 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.639C>A r.(?) p.(Cys213Ter) Unknown ACMG pathogenic (recessive) g.10803977G>T g.10803744G>T - - MAK_000116 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 1275784 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1288 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.664-16T>C r.(=) p.(=) Unknown - benign g.10802308A>G g.10802075A>G MAK(NM_001242957.3):c.664-16T>C - MAK_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.718C>T r.(?) p.(Gln240*) Both (homozygous) - pathogenic (recessive) g.10802238G>A g.10802005G>A - - MAK_000077 - PubMed: Ozgul 2011 - - Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease FamRP-2011 PubMed: Ozgul 2011 4-generation family, 1 affected, unaffected parents F - Turkey - - - - - 1 Johan den Dunnen
?/. - c.755A>G r.(?) p.(Asn252Ser) Unknown - VUS g.10802201T>C g.10801968T>C MAK(NM_001242957.2):c.755A>G (p.N252S) - MAK_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.755A>G r.(?) p.(Asn252Ser) Unknown ACMG VUS g.10802201T>C g.10801968T>C MAK:NM_005906 c.A755G, p.N252S - MAK_000062 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-326 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.782T>C r.(?) p.(Met261Thr) Unknown - VUS g.10802174A>G g.10801941A>G - - MAK_000037 - 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.786C>T r.(?) p.(Thr262=) Unknown - likely benign g.10802170G>A g.10801937G>A MAK(NM_001242957.2):c.786C>T (p.T262=) - MAK_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787G>A r.(?) p.(Glu263Lys) Unknown - VUS g.10802169C>T g.10801936C>T - - MAK_000036 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199689074 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.814C>T r.(?) p.(Arg272*) Unknown ACMG likely pathogenic g.10802142G>A g.10801909G>A MAK c.814C>T, p.(Arg272*), c.1143dup, p.(Lys382*) - MAK_000100 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 150 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 7 c.814C>T r.(?) p.(Arg272*) Both (homozygous) - likely pathogenic g.10802142G>A g.10801909G>A MAK Ex.7 c.814C>T p.(Arg272*), Ex.7 c.814C>T p.(Arg272*) - MAK_000100 homozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2175 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. 7 c.814C>T r.(?) p.(Arg272*) Both (homozygous) - likely pathogenic g.10802142G>A g.10801909G>A MAK Ex.7 c.814C>T p.(Arg272*), Ex.7 c.814C>T p.(Arg272*) - MAK_000100 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2713 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.831+1630_1143+861delinsCTCCAGCCTGG r.? p.? Unknown ACMG likely pathogenic (recessive) g.10795370_10800495delinsCCAGGCTGGAG g.10795137_10800262delinsCCAGGCTGGAG - - MAK_000115 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1288 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
?/. - c.878C>T r.(?) p.(Ser293Leu) Unknown - VUS g.10796496G>A g.10796263G>A - - MAK_000035 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs773485283 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.968C>G r.(?) p.(Pro323Arg) Unknown - VUS g.10796406G>C g.10796173G>C - - MAK_000088 - PubMed: Xu 2014 - rs200641218 Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP101 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
?/. - c.974C>T r.(?) p.(Pro325Leu) Parent #1 - VUS g.10796400G>A - - - MAK_000072 variant not in affected sibling PubMed: Ozgul 2011 - - Germline - - - - - DNA SEQ - - retinal disease Pat050135 PubMed: Ozgul 2011 - - - Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.975G>A r.(?) p.(Pro325=) Unknown - likely benign g.10796399C>T g.10796166C>T MAK(NM_001242957.3):c.975G>A (p.P325=) - MAK_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1063G>A r.(?) p.(Val355Ile) Unknown - VUS g.10796311C>T g.10796078C>T - - MAK_000034 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs751783623 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.1084_1085del r.(?) p.(Gln362Glufs*20) Unknown - pathogenic g.10796290_10796291del - MAK(NM_001242957.3):c.1084_1085delCA (p.Q362Efs*20) - MAK_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1095G>A r.(?) p.(Glu365=) Unknown - benign g.10796279C>T g.10796046C>T MAK(NM_001242957.3):c.1095G>A (p.E365=) - MAK_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1105C>T r.(?) p.(Gln369Ter) Unknown - pathogenic (recessive) g.10796269G>A g.10796036G>A - - MAK_000087 - PubMed: Xu 2014 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease RP298 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
-?/. - c.1109C>T r.(?) p.(Thr370Met) Unknown - likely benign g.10796265G>A g.10796032G>A MAK(NM_001242957.2):c.1109C>T (p.T370M) - MAK_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1110G>C r.(?) p.(Thr370=) Unknown - likely benign g.10796264C>G - MAK(NM_001242957.3):c.1110G>C (p.T370=) - MAK_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118C>T r.(?) p.(Pro373Leu) Unknown - VUS g.10796256G>A g.10796023G>A - - MAK_000033 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs771764863 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.1126G>A r.(?) p.(Val376Ile) Unknown - VUS g.10796248C>T g.10796015C>T - - MAK_000086 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP373 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
?/. - c.1141A>C r.(?) p.(Thr381Pro) Unknown - VUS g.10796233T>G g.10796000T>G - - MAK_000032 - 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.1143dup r.(?) p.(Lys382*) Unknown ACMG likely pathogenic g.10796231dup g.10795998dup MAK c.814C>T, p.(Arg272*), c.1143dup, p.(Lys382*) - MAK_000099 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 150 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
-/. - c.1143+14C>T r.(=) p.(=) Unknown - benign g.10796217G>A g.10795984G>A MAK(NM_001242957.3):c.1143+14C>T - MAK_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151A>G r.(?) p.(Asn384Ser) Unknown - VUS g.10792073T>C g.10791840T>C - - MAK_000031 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs55773478 Germline - 10/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 10 Yoshito Koyanagi
-?/. - c.1151A>G r.(?) p.(Asn384Ser) Unknown - likely benign g.10792073T>C - MAK(NM_001242957.3):c.1151A>G (p.N384S) - MAK_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181G>C r.(?) p.(Arg394Thr) Unknown - VUS g.10792043C>G - - - MAK_000069 no variant 2nd chromosome PubMed: Tucker 2011 - - Germline/De novo (untested) - - - - - DNA SEQ - - retinal disease patient PubMed: Tucker 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1184G>T r.(?) p.(Arg395Leu) Unknown - benign g.10792040C>A g.10791807C>A MAK(NM_001242957.2):c.1184G>T (p.R395L), MAK(NM_001242957.3):c.1184G>T (p.R395L) - MAK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1184G>T r.(?) p.(Arg395Leu) Unknown - benign g.10792040C>A g.10791807C>A MAK(NM_001242957.2):c.1184G>T (p.R395L), MAK(NM_001242957.3):c.1184G>T (p.R395L) - MAK_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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