Full data view for gene FAM161A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001201543.1 transcript reference sequence.

274 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.-5_*34453182dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. _1_7_ c.(?_-5)_*1607{2} r.? p.? Unknown - VUS g.(?_27600408)_(62081181_?)dup - 27600408–62081181dup - FAM161A_000000 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 13009597 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - c.42T>G r.(?) p.(Ser14Arg) Unknown - VUS g.62081135A>C g.61854000A>C - - FAM161A_000047 - 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.72A>C r.(?) p.(Gly24=) Unknown - benign g.62081105T>G g.61853970T>G FAM161A(NM_001201543.2):c.72A>C (p.G24=) - FAM161A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.109A>G r.(?) p.(Lys37Glu) Unknown - VUS g.62081068T>C g.61853933T>C - - FAM161A_000046 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs200976538 Germline - 9/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 9 Yoshito Koyanagi
-/. - c.165= r.(=) p.(Ala55=) Unknown - benign g.62081012A>C - FAM161A(NM_001201543.2):c.165T>G (p.A55=) - FAM161A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.165G>T r.(?) p.(Ala55=) Unknown - benign g.62081012C>A g.61853877C>A Ala55= - FAM161A_000010 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - - - - ? - - - - 1 Jacopo Celli
-?/. - c.176G>A r.(?) p.(Gly59Glu) Unknown - likely benign g.62081001C>T g.61853866C>T FAM161A(NM_001201543.1):c.176G>A (p.G59E) - FAM161A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.184-17T>A r.(=) p.(=) Unknown - benign g.62069512A>T g.61842377A>T FAM161A(NM_001201543.2):c.184-17T>A - FAM161A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187G>A r.(?) p.(Asp63Asn) Unknown - VUS g.62069492C>T g.61842357C>T FAM161A(NM_001201543.2):c.187G>A (p.D63N) - FAM161A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.197C>T r.(?) p.(Thr66Ile) Unknown - VUS g.62069482G>A g.61842347G>A - - FAM161A_000003 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 2/366 - - - DNA SEQ - - RPar - - - - - - Turkish - - - - 1 Jacopo Celli
-/. - c.197C>T r.(?) p.(Thr66Ile) Unknown - benign g.62069482G>A g.61842347G>A FAM161A(NM_001201543.1):c.197C>T (p.T66I), FAM161A(NM_001201543.2):c.197C>T (p.T66I) - FAM161A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.197C>T r.(?) p.(Thr66Ile) Unknown - benign g.62069482G>A g.61842347G>A FAM161A(NM_001201543.1):c.197C>T (p.T66I), FAM161A(NM_001201543.2):c.197C>T (p.T66I) - FAM161A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227C>T r.(?) p.(Pro76Leu) Unknown - VUS g.62069452G>A g.61842317G>A FAM161A(NM_001201543.2):c.227C>T (p.P76L) - FAM161A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.228G>A r.(?) p.(=) Unknown - VUS g.62069451C>T g.61842316C>T Pro76= - FAM161A_000004 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 0/358 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
-/. 2 c.321A>G r.(?) p.(Ile107Met) Unknown - benign g.62069358T>C g.61842223T>C - - FAM161A_000011 - PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - - - - ? - - - - 1 Jacopo Celli
-/. - c.321A>G r.(?) p.(Ile107Met) Unknown - benign g.62069358T>C g.61842223T>C - - FAM161A_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs11125895 Germline - 424/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 424 Yoshito Koyanagi
-/. - c.321A>G r.(?) p.(Ile107Met) Both (homozygous) - benign g.62069358T>C g.61842223T>C - - FAM161A_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs11125895 Germline - 55/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 55 Yoshito Koyanagi
?/. - c.354G>T r.(?) p.(Gln118His) Unknown - VUS g.62069325C>A g.61842190C>A FAM161A(NM_001201543.2):c.354G>T (p.Q118H) - FAM161A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.354G>T r.(?) p.(Gln118His) Unknown - VUS g.62069325C>A g.61842190C>A - - FAM161A_000059 - PubMed: Wang 2014 - rs140622968 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 47 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
+?/. 2 c.357del r.(?) p.(Asp119Glufs*5) Unknown - likely pathogenic g.62069322del g.61842187del RP1 Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), Ex.2 c.93_105delinsAAA p.(His31Glnfs*47), FAM161A: Ex.2 c.357del p.(Asp119Glufs*5) - FAM161A_000083 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-2165 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
-/. - c.423-8T>G r.(=) p.(=) Unknown - benign g.62067724A>C g.61840589A>C FAM161A(NM_001201543.2):c.423-8T>G - FAM161A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423-7C>T r.(=) p.(=) Unknown - benign g.62067723G>A g.61840588G>A FAM161A(NM_001201543.2):c.423-7C>T - FAM161A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.443C>T r.(?) p.(Ser148Phe) Unknown - likely benign g.62067696G>A g.61840561G>A FAM161A(NM_001201543.1):c.443C>T (p.(Ser148Phe)) - FAM161A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.493C>T r.(?) p.(Gln165Ter) Maternal (confirmed) ACMG pathogenic (recessive) g.62067646G>A g.61840511G>A - - FAM161A_000100 ACMG PVS1, PM2, PP5; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1157 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. 3 c.613G>C r.(?) p.(Asp205His) Unknown - VUS g.62067526C>G g.61840391C>G - - FAM161A_000005 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 0/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
+?/. - c.674_677del r.(?) p.(Lys227Asnfs*17) Both (homozygous) - likely pathogenic g.62067462_62067465del g.61840327_61840330del FAM161A c.678_681delGAAG, p.Lys227AsnfsTer17 - FAM161A_000069 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000328 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.678_681del r.(?) p.(Lys227Asnfs*17) Both (homozygous) - pathogenic (recessive) g.62067458_62067461del - 2:62067457TCTTC>T ENST00000404929.1:c.678_681delGAAG (Lys227AsnfsTer17) - FAM161A_000069 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000328 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. 3 c.678_681del r.(?) p.(Lys227Asnfs*17) Both (homozygous) - pathogenic (recessive) g.62067462_62067465del g.61840327_61840330del - - FAM161A_000069 - PubMed: Habibi 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease F11 PubMed: Habibi 2016 family - - Tunisia - - - - - 1 LOVD
+/. 3 c.685C>T r.(?) p.(Arg229*) Both (homozygous) - pathogenic g.62067454G>A g.61840319G>A Arg229X - FAM161A_000001 - PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - PubMed: Gu 1999 - - - - Indian - - - - 1 Jacopo Celli
+?/. 3 c.685C>T r.(?) p.(Arg229Ter) Unknown - likely pathogenic g.62067454G>A g.61840319G>A - - FAM161A_000001 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 09DG00352 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 3 c.685C>T r.(?) p.(Arg229Ter) Unknown - likely pathogenic g.62067454G>A g.61840319G>A - - FAM161A_000001 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1421 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 3 c.685C>T r.(?) p.(Arg229Ter) Unknown - likely pathogenic g.62067454G>A g.61840319G>A - - FAM161A_000001 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1804 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - likely pathogenic g.62067454G>A g.61840319G>A FAM161A c.[685C > T];[685C > T], p.[R229*];[R229*] - FAM161A_000001 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F18_IV.1 PubMed: Habibi 2020 Family F18, patient IV.1 M - Tunisia - - - - - 1 LOVD
+?/. - c.685C>T r.(?) p.(Arg229*) Both (homozygous) - likely pathogenic g.62067454G>A g.61840319G>A FAM161A c.[685C > T];[685C > T], p.[R229*];[R229*] - FAM161A_000001 homozygous PubMed: Habibi 2020 - - Germline ? - - - - DNA SEQ-NG-I blood whole exome sequencing retinal disease F18_IV.3 PubMed: Habibi 2020 Family F18, patient IV.3 F - Tunisia - - - - - 1 LOVD
+/. - c.685C>T r.(?) p.(Arg229Ter) Unknown ACMG pathogenic (recessive) g.62067454G>A g.61840319G>A - - FAM161A_000001 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 35 - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1286 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
-?/. - c.698T>C r.(?) p.(Val233Ala) Unknown - likely benign g.62067441A>G g.61840306A>G FAM161A(NM_001201543.1):c.698T>C (p.V233A) - FAM161A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.706A>G r.(?) p.(Ile236Val) Unknown - benign g.62067433T>C g.61840298T>C - - FAM161A_000012 - PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - - - - ? - - - - 1 Jacopo Celli
-/. - c.706A>G r.(?) p.(Ile236Val) Unknown - benign g.62067433T>C g.61840298T>C - - FAM161A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.706A>G r.(?) p.(Ile236Val) Unknown - benign g.62067433T>C g.61840298T>C - - FAM161A_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs17513722 Germline - 157/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 157 Yoshito Koyanagi
-/. - c.706A>G r.(?) p.(Ile236Val) Both (homozygous) - benign g.62067433T>C g.61840298T>C - - FAM161A_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs17513722 Germline - 8/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
-/. - c.720G>A r.(?) p.(Glu240=) Unknown - benign g.62067419C>T g.61840284C>T FAM161A(NM_001201543.2):c.720G>A (p.E240=) - FAM161A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.728A>C r.(?) p.(Gln243Pro) Unknown - VUS g.62067411T>G g.61840276T>G - - FAM161A_000079 - PubMed: Xu 2014 - - Germline - 1/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP092 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
+?/. 3 c.730del r.(?) p.(Met244*) Unknown - likely pathogenic g.62067411del g.61840276del FAM161A Ex.3 c.730del p.(Met244*), Ex.3 c.1567C>T p.(Arg523*), IMPG2: Ex.12 c.1483C>T p.(Gln495*) - FAM161A_000082 compound heterozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-1161 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.733A>G r.(?) p.(Met245Val) Parent #1 - likely pathogenic g.62067406T>C g.61840271T>C FAM161A c.733A>G, p.M254V - FAM161A_000085 error in annotation, c.733A>G causes p.(Met245Val) and not p.(Met254Val) , compound heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 77 PubMed: Jauregui 2020 - M - (United States) Hispanic - - - - 1 LOVD
+/. - c.782del r.(?) p.(Asp261Valfs*39) Both (homozygous) - pathogenic (recessive) g.62067357del - 2:62067356AT>A ENST00000404929.1:c.782delA (Asp261ValfsTer39) - FAM161A_000068 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000367 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.782del r.(?) p.(Asp261Valfs*39) Both (homozygous) - likely pathogenic g.62067357del g.61840222del FAM161A c.782delA, p.Asp261ValfsTer39 - FAM161A_000068 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000367 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
-/. - c.817G>A r.(?) p.(Glu273Lys) Unknown - benign g.62067322C>T g.61840187C>T FAM161A(NM_001201543.1):c.817G>A (p.E273K) - FAM161A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.847C>T r.(?) p.(Arg283*) Parent #1 - likely pathogenic g.62067292G>A g.61840157G>A FAM161A, variant 1: c.847C>T/p.R283*, variant 2: c.1205C>G/p.S402* - FAM161A_000088 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1248 PubMed: Weisschuh 2020 Filing key number: 1028, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.880C>T r.(?) p.(Pro294Ser) Both (homozygous) - VUS g.62067259G>A g.61840124G>A - - FAM161A_000045 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs751327149 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.881C>T r.(?) p.(Pro294Leu) Unknown - VUS g.62067258G>A g.61840123G>A NM_001201543.1:c.881C>T - FAM161A_000076 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case25939 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
+/. - c.904C>T r.(?) p.(Gln302Ter) Unknown - pathogenic g.62067235G>A g.61840100G>A FAM161A(NM_001201543.1):c.904C>T (p.Q302*) - FAM161A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.904C>T r.(?) p.(Gln302*) Both (homozygous) - likely pathogenic g.62067235G>A g.61840100G>A - - FAM161A_000056 - PubMed: Jin 2017 - - Germline - - - - - DNA SEQ-NG - WES ? H45 PubMed: Jin 2017 - - - China - - - - - 1 LOVD
-/. - c.906A>G r.(?) p.(Gln302=) Unknown - benign g.62067233T>C g.61840098T>C FAM161A(NM_001201543.2):c.906A>G (p.Q302=) - FAM161A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.916C>T r.(?) p.(Arg306Trp) Unknown - likely benign g.62067223G>A g.61840088G>A FAM161A(NM_001201543.2):c.916C>T (p.R306W) - FAM161A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916C>T r.(?) p.(Arg306Trp) Unknown - VUS g.62067223G>A g.61840088G>A - - FAM161A_000029 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs183615774 Germline - 8/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 8 Yoshito Koyanagi
?/. - c.917G>A r.(?) p.(Arg306Gln) Unknown - VUS g.62067222C>T g.61840087C>T FAM161A(NM_001201543.1):c.917G>A (p.R306Q) - FAM161A_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.927T>A r.(?) p.(Ser309=) Unknown - likely benign g.62067212A>T g.61840077A>T FAM161A(NM_001201543.1):c.927T>A (p.S309=) - FAM161A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.943A>T r.(?) p.(Lys315*) Both (homozygous) - likely pathogenic g.62067196T>A g.61840061T>A c.943A>T p.Lys315* - FAM161A_000081 EQT33_II-1 and II:2 genders differ between the table and the pedigree; here taken from pedigree and text PubMed: Hu 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Whole exome sequencing retinal disease EQT33_II-1 PubMed: Hu 2019 - M no - - - - - - 1 LOVD
+?/. 3 c.943A>T r.(?) p.(Lys315*) Both (homozygous) - likely pathogenic g.62067196T>A g.61840061T>A c.943A>T p.Lys315* - FAM161A_000081 EQT33_II-1 and II:2 genders differ between the table and the pedigree; here taken from pedigree and text PubMed: Hu 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood Whole exome sequencing retinal disease EQT33_II-2 PubMed: Hu 2019 - F no - - - - - - 1 LOVD
+/. 3 c.971del r.(?) p.(Pro324Hisfs*5) Both (homozygous) - pathogenic (recessive) g.62067169del g.61840034del - - FAM161A_000070 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat122 PubMed: Birtel 2018 patient F - Germany - - - - - 1 LOVD
?/. 3 c.977A>C r.(?) p.(Lys326Thr) Unknown - VUS g.62067162T>G g.61840027T>G - - FAM161A_000071 - PubMed: Bryant 2018 - rs745318331 Germline - - - - - DNA SEQ-NG - WES retinal disease JB40 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+?/. 3 c.984dup r.(?) p.(Ala329Serfs*19) Unknown - likely pathogenic g.62067155dup g.61840020dup FAM161A c.984dup, p.Ala329SerfsTer19 - FAM161A_000084 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2831_004416 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. 3 c.984dup r.(?) p.(Ala329Serfs*19) Unknown - likely pathogenic g.62067155dup g.61840020dup c.984dup, p.Ala329SerfsTer19 - FAM161A_000084 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI2831_004416 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1003C>T r.(?) p.(Arg335*) Both (homozygous) - likely pathogenic g.62067136G>A g.61840001G>A FAM161A c.1003C>T/p.R335X - FAM161A_000096 homozygous PubMed: Zobor 2014 - - Germline yes - - - - DNA arraySNP, SEQ - homozygosity mapping retinal disease II:2 PubMed: Zobor 2014 - M yes - Palestinian - - - - 1 LOVD
+?/. - c.1003C>T r.(?) p.(Arg335*) Both (homozygous) - likely pathogenic g.62067136G>A g.61840001G>A FAM161A c.1003C>T/p.R335X - FAM161A_000096 homozygous PubMed: Zobor 2014 - - Germline yes - - - - DNA arraySNP, SEQ - homozygosity mapping retinal disease II:3 PubMed: Zobor 2014 - M yes - Palestinian - - - - 1 LOVD
+?/. - c.1003C>T r.(?) p.(Arg335*) Both (homozygous) - likely pathogenic g.62067136G>A g.61840001G>A FAM161A c.1003C>T/p.R335X - FAM161A_000096 homozygous PubMed: Zobor 2014 - - Germline yes - - - - DNA arraySNP, SEQ - homozygosity mapping retinal disease II:6 PubMed: Zobor 2014 - F yes - Palestinian - - - - 1 LOVD
+?/. - c.1003C>T r.(?) p.(Arg335*) Both (homozygous) - likely pathogenic g.62067136G>A g.61840001G>A FAM161A c. 1105 C>T, p.Arg335Ter - FAM161A_000096 error in annotation, Arg335* is actually caused by c.1003C>T and not c. 1105 C>T; homozygous; both mutations in cis PubMed: Duncan 2014 - - Germline yes - - - - DNA SEQ - - retinal disease III-1 PubMed: Duncan 2014 - F likely India Nadar caste - - - - 1 LOVD
+?/. - c.1003C>T r.(?) p.(Arg335*) Both (homozygous) - likely pathogenic g.62067136G>A g.61840001G>A FAM161A c. 1105 C>T, p.Arg335Ter - FAM161A_000096 error in annotation, Arg335* is actually caused by c.1003C>T and not c. 1105 C>T; homozygous; both mutations in cis PubMed: Duncan 2014 - - Germline yes - - - - DNA SEQ-NG - - retinal disease III-2 PubMed: Duncan 2014 - M likely India Nadar caste - - - - 1 LOVD
+?/. - c.1003C>T r.(?) p.(Arg335*) Both (homozygous) - likely pathogenic g.62067136G>A g.61840001G>A FAM161A c. 1105 C>T, p.Arg335Ter - FAM161A_000096 error in annotation, Arg335* is actually caused by c.1003C>T and not c. 1105 C>T; homozygous; both mutations in cis PubMed: Duncan 2014 - - Germline yes - - - - DNA SEQ - - retinal disease III-3 PubMed: Duncan 2014 - M likely India Nadar caste - - - - 1 LOVD
-/. - c.1013G>A r.(?) p.(Arg338Gln) Unknown - benign g.62067126C>T g.61839991C>T FAM161A(NM_001201543.1):c.1013G>A (p.R338Q), FAM161A(NM_001201543.2):c.1013G>A (p.R338Q) - FAM161A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1013G>A r.(?) p.(Arg338Gln) Unknown - benign g.62067126C>T g.61839991C>T FAM161A(NM_001201543.1):c.1013G>A (p.R338Q), FAM161A(NM_001201543.2):c.1013G>A (p.R338Q) - FAM161A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1034_1035insC r.(?) p.(Leu346SerfsTer2) Unknown ACMG pathogenic (recessive) g.62067104_62067105insG g.61839969_61839970insG - - FAM161A_000099 ACMG PM2, PVS1, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1117 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1044T>C r.(?) p.(Tyr348=) Unknown - likely benign g.62067095A>G g.61839960A>G FAM161A(NM_001201543.1):c.1044T>C (p.Y348=) - FAM161A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1085G>T r.(?) p.(Arg362Leu) Unknown - VUS g.62067054C>A g.61839919C>A - - FAM161A_000006 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 1/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
?/. - c.1113C>G r.(?) p.(Asp371Glu) Unknown - VUS g.62067026G>C g.61839891G>C - - FAM161A_000044 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs764517474 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
?/. 3 c.1133T>C r.(?) p.(Leu378Pro) Unknown - VUS g.62067006A>G g.61839871A>G - - FAM161A_000008 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 0/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
?/. 3 c.1133T>G r.(?) p.(Leu378Arg) Unknown - VUS g.62067006A>C g.61839871A>C - - FAM161A_000007 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 0/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
-?/. - c.1133T>G r.(?) p.(Leu378Arg) Unknown - likely benign g.62067006A>C g.61839871A>C FAM161A(NM_001201543.1):c.1133T>G (p.L378R, p.(Leu378Arg)), FAM161A(NM_001201543.2):c.1133T>G (p.L378R) - FAM161A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1133T>G r.(?) p.(Leu378Arg) Unknown - likely benign g.62067006A>C g.61839871A>C FAM161A(NM_001201543.1):c.1133T>G (p.L378R, p.(Leu378Arg)), FAM161A(NM_001201543.2):c.1133T>G (p.L378R) - FAM161A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1133T>G r.(?) p.(Leu378Arg) Unknown - likely benign g.62067006A>C g.61839871A>C FAM161A(NM_001201543.1):c.1133T>G (p.L378R, p.(Leu378Arg)), FAM161A(NM_001201543.2):c.1133T>G (p.L378R) - FAM161A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1133T>G r.(?) p.(Leu378Arg) Unknown - VUS g.62067006A>C g.61839871A>C - - FAM161A_000007 - PubMed: Bryant 2018 - rs187695569 Germline - - - - - DNA SEQ-NG - WES retinal disease JB274 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. 3 c.1133T>G r.(?) p.(Leu378Arg) Unknown - pathogenic g.62067006A>C - - - FAM161A_000007 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat11 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+/. - c.1138C>T r.(?) p.(Arg380Ter) Unknown - pathogenic g.62067001G>A g.61839866G>A FAM161A(NM_001201543.1):c.1138C>T (p.R380*) - FAM161A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.1139G>T r.(?) p.(Arg380Leu) Both (homozygous) - pathogenic g.62067000C>A g.61839865C>A - - FAM161A_000019 - PubMed: Li 2017 - - Germline yes - - - - DNA SEQ WBC - retinal disease 61239 PubMed: Li 2017 - F yes Pakistan Pakistani - - - - 1 James Hejtmancik
?/. 3 c.1153C>G r.(?) p.(Gln385Glu) Unknown - VUS g.62066986G>C g.61839851G>C - - FAM161A_000009 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 2/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
?/. 3 c.1153C>G r.(?) p.(Gln385Glu) Unknown - VUS g.62066986G>C g.61839851G>C - - FAM161A_000009 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 2/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
?/. 3 c.1153C>G r.(?) p.(Gln385Glu) Unknown - VUS g.62066986G>C g.61839851G>C - - FAM161A_000009 Rare sequence variant of uncertain pathogenicity, heterozygous. PubMed: Langmann 2010 - - Germline - 2/400 - - - DNA SEQ - - RPar - - - - - - German - - - - 1 Jacopo Celli
-?/. - c.1153C>G r.(?) p.(Gln385Glu) Unknown - likely benign g.62066986G>C g.61839851G>C FAM161A(NM_001201543.1):c.1153C>G (p.Q385E) - FAM161A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1153C>G r.(?) p.(Gln385Glu) Unknown ACMG VUS g.62066986G>C g.61839851G>C FAM161A:NM_001201543 c.C1153G, p.Q385E - FAM161A_000009 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RP-1943 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.1205C>G r.(?) p.(Ser402*) Parent #1 - likely pathogenic g.62066934G>C g.61839799G>C FAM161A, variant 1: c.847C>T/p.R283*, variant 2: c.1205C>G/p.S402* - FAM161A_000087 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1248 PubMed: Weisschuh 2020 Filing key number: 1028, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1212T>A r.(?) p.(Cys404*) Parent #1 - likely pathogenic g.62066927A>T g.61839792A>T FAM161A, variant 1: c.1212T>A/p.C404*, variant 2: c.1212T>A/p.C404* - FAM161A_000086 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 1219 PubMed: Weisschuh 2020 Filing key number: 958, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-/. 3 c.1212T>C r.(?) p.(=) Unknown - benign g.62066927A>G g.61839792A>G 1212C>T, Cys404= - FAM161A_000013 - PubMed: Langmann 2010 - - Germline - - - - - DNA SEQ - - RPar - - - - - - ? - - - - 1 Jacopo Celli
-/. - c.1212T>C r.(?) p.(Cys404=) Unknown - benign g.62066927A>G g.61839792A>G FAM161A(NM_001201543.1):c.1212T>C (p.C404=), FAM161A(NM_001201543.2):c.1212T>C (p.C404=) - FAM161A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1212T>C r.(?) p.(Cys404=) Unknown - benign g.62066927A>G g.61839792A>G FAM161A(NM_001201543.1):c.1212T>C (p.C404=), FAM161A(NM_001201543.2):c.1212T>C (p.C404=) - FAM161A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1212T>C r.(?) p.(Cys404=) Unknown - benign g.62066927A>G g.61839792A>G FAM161A(NM_001201543.1):c.1212T>C (p.C404=), FAM161A(NM_001201543.2):c.1212T>C (p.C404=) - FAM161A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1214G>C r.(?) p.(Gly405Ala) Unknown - VUS g.62066925C>G g.61839790C>G - - FAM161A_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.1217G>A r.(?) p.(Cys406Tyr) Unknown - VUS g.62066922C>T - FAM161A(NM_001201543.1):c.1217G>A (p.C406Y) - FAM161A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.1276T>G r.(?) p.(Cys426Gly) Unknown - VUS g.62066863A>C g.61839728A>C - - FAM161A_000078 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP259 PubMed: Xu 2014 family M - China - - - - - 1 LOVD
?/. 3 c.1276T>G r.(?) p.(Cys426Gly) Unknown - VUS g.62066863A>C g.61839728A>C - - FAM161A_000078 - PubMed: Xu 2014 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP291 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
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