Full data view for gene ALMS1

This database is one of the "Eye disease" gene variant databases and the EURO-WABB
project
, the EU registry for Wolfram syndrome, Alström syndrome, Bardet-Biedl syndrome
and other rare diabetes syndromes.
Information The variants shown are described using the NM_001378454.1 transcript reference sequence.

283 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.(?_11668+196)_*313{0} r.? p.? Parent #2 ACMG likely pathogenic g.(?_73826844)_(73839058_?)del g.(?_73599717)_(73611931_?)del arr([GRCh37] 2p13.1(73,826,844-73,839,058)x1), compound heterozygous - ALMS1_000856 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing retinal disease RP-0903 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+/. - c.643eC>T r.(?) p.(Arg2145Ter) Parent #1 - likely pathogenic g.73680087C>T g.73452960C>T - - ALMS1_000628 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.54_55insTAG r.(?) p.(Glu19Ter) Unknown - likely pathogenic g.73613050_73613051insTAG g.73385922_73385923insTAG c.54_55insTAG - ALMS1_000634 - PubMed: Neubauer 2021 - - Unknown - - - - - DNA SEQ-NG-I - - SUD SUDS066 PubMed: Neubauer 2021 - F - Switzerland Europe 57y - - - 1 Cordula Haas
?/. - c.57_74dup r.(?) p.(Glu23_Glu28dup) Unknown - VUS g.73613053_73613070dup - ALMS1(NM_001378454.1):c.57_74dup (p.(Glu23_Glu28dup)) - ALMS1_000885 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.57_74dup r.(?) p.(Glu23_Glu28dup) Unknown - likely benign g.73613053_73613070dup - - - ALMS1_000885 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75_77dup r.(?) p.(Glu28dup) Unknown - VUS g.73613071_73613073dup g.73385943_73385945dup 36_44delinsGGAGGAGGAGGA - ALMS1_000284 - - - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES CHTD patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - - - - 1 Johan den Dunnen
-?/. - c.103_105dup r.(?) p.(Ala35dup) Unknown - likely benign g.73613099_73613101dup g.73385971_73385973dup ALMS1(NM_015120.4):c.106_108dupGCG (p.A36dup) - ALMS1_000794 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246G>A r.(?) p.(Ala82=) Unknown - likely benign g.73613242G>A g.73386114G>A ALMS1(NM_015120.4):c.249G>A (p.A83=) - ALMS1_000795 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.296C>A r.(?) p.(Ser99Ter) Parent #1 - likely pathogenic g.73613292C>A g.73386164C>A - - ALMS1_000626 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.302G>A r.(?) p.(Gly101Asp) Unknown - likely benign g.73613298G>A g.73386170G>A ALMS1(NM_015120.4):c.302G>A (p.(Gly102Asp)) - ALMS1_000796 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1 c.323A>G r.(?) p.(Lys108Arg) Unknown - likely benign g.73613319A>G g.73386191A>G A323G - ALMS1_000637 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - - - DNA SEQ, SEQ-NG Blood WES COD patient PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 2-generation family, 1 affected, unaffected parents M no Japan - >20y - - - 1 Najlae Akhiyate
+/. - c.324+4066_10384+3639delinsCACTT r.? p.? Paternal (confirmed) - pathogenic g.73617386_73789908delinsCACTT g.73390258_73562781delinsCACTT del exon16_17 / del exon2_15 73617393-73789869del - ALMS1_000701 172,476 bp deletion, 5 bp insertion PubMed: Lindstrand 2016 - - Germline - - - - - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR400-03 PubMed: Lindstrand 2016 - F no United States - - - - - 1 LOVD
?/. - c.451-5T>G r.? p.? Unknown - VUS g.73646246T>G g.73419118T>G c.451-5T>G - ALMS1_000866 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP016 PubMed: Xu 2014 family F - China - - - - - 1 LOVD
+?/. - c.547del r.(?) p.(Glu183LysfsTer2) Parent #1 - likely pathogenic g.73646347del g.73419219del ALMS1, variant 1: c.550del/p.V184*, variant 2: c.6305C>A/p.S2102* - ALMS1_000775 error in annotation, protein change should be p.(Leu2379Phe) and not p.(Gln2379*), might be a different transcript, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 898 PubMed: Weisschuh 2020 Filing key number: 378, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.568C>A r.(?) p.(Leu190Met) Both (homozygous) - VUS g.73646368C>A g.73419240C>A ALMS1 nucleotide 1, protein 1:c.571C>A, p.Leu191Met - ALMS1_000783 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 44 PubMed: Hull 2020 - ? - New Zealand Pacific - - - - 1 LOVD
-?/. - c.611A>C r.(?) p.(Glu204Ala) Unknown - likely benign g.73646411A>C g.73419283A>C ALMS1(NM_015120.4):c.614A>C (p.(Glu205Ala)) - ALMS1_000797 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.650T>C r.(?) p.(Ile217Thr) Unknown - likely benign g.73649988T>C g.73422860T>C ALMS1(NM_015120.4):c.650T>C (p.(Ile218Thr)) - ALMS1_000828 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.668C>A r.(?) p.(Ser223Tyr) Unknown - likely benign g.73650006C>A - ALMS1(NM_015120.4):c.671C>A (p.(Pro224His)) - ALMS1_000878 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.717G>A r.(?) p.(Ala239=) Unknown - likely benign g.73650055G>A g.73422927G>A ALMS1(NM_015120.4):c.720G>A (p.A240=) - ALMS1_000798 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.718C>T r.(?) p.(Pro240Ser) Unknown - likely benign g.73650056C>T g.73422928C>T ALMS1(NM_015120.4):c.721C>T (p.P241S) - ALMS1_000829 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719C>A r.(?) p.(Pro240His) Parent #1 ACMG VUS g.73650057C>A g.73422929C>A 716C>A Ala239Glu) - ALMS1_000635 ACMG PM2, BP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - DNA SEQ, SEQ-NG - 199 gene panel retinal disease 1577 PubMed: Zenteno 2020 - - - Mexico - - - - - 1 Johan den Dunnen
?/. - c.738A>C r.(?) p.(Gln246His) Unknown - VUS g.73650076A>C g.73422948A>C ALMS1(NM_015120.4):c.741A>C (p.(Gln247His)) - ALMS1_000844 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.764G>A r.(?) p.(Arg255Lys) Unknown - likely pathogenic g.73650102G>A g.73422974G>A c.767G>A - ALMS1_000712 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG1978 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.797G>A r.(?) p.(Trp266Ter) Parent #1 - pathogenic (recessive) g.73651590G>A g.73424462G>A 797G>A (Trp266*) - ALMS1_000872 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-322-765 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. 5 c.805C>T r.(?) p.(Arg269Ter) Both (homozygous) - pathogenic g.73651598C>T g.73424470C>T c.808C>T - ALMS1_000281 - PubMed: Lazar 2015; Journal: Lazar 2015 - - Germline yes - - - - DNA arraySNP, SEQ-NG - - CORD, LGMDR2;LGMD2B FamPatIII4 PubMed: Lazar 2015; Journal: Lazar 2015 3-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/sister F - Israel Arab, Muslim - - - - 2 Csilla Lazar
+?/. 5 c.805C>T r.(?) p.(Arg269Ter) Both (homozygous) - likely pathogenic g.73651598C>T g.73424470C>T c.808C>T - ALMS1_000281 - PubMed: Lazar 2015, Journal: Lazar 2015 - - Germline - - - - - DNA arraySNP, SEQ - - ALMS, LGMDR2;LGMD2B 26077327-PatIII4 PubMed: Lazar 2015, Journal: Lazar 2015 brother M yes Palestine - - - - - 1 Pieter Klap
+/. 5 c.805C>T r.(?) p.(Arg269Ter) Both (homozygous) - pathogenic g.73651598C>T g.73424470C>T c.808C>T - ALMS1_000281 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - F yes Israel Arab-Muslim - - - - 2 Dror Sharon
+/. - c.805C>T r.(?) p.(Arg269Ter) Unknown ACMG pathogenic g.73651598C>T g.73424470C>T c.808C>T - ALMS1_000281 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+/. - c.805C>T r.(?) p.(Arg269Ter) Parent #1 - pathogenic (recessive) g.73651598C>T g.73424470C>T c.808C>T - ALMS1_000281 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease RP-2177 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.805C>T r.(?) p.(Arg269Ter) Parent #1 - likely pathogenic g.73651598C>T g.73424470C>T 808C>T (R269X) - ALMS1_000281 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 165 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. - c.833_834del r.(?) p.(Phe278SerfsTer16) Unknown - likely pathogenic g.73651626_73651627del g.73424498_73424499del c.834_835delAT, p.Phe278SerfsTer16 - ALMS1_000771 different transcript, ENST00000264448.6(ALMS1):c.833_834del, p.(Phe278Serfs*16), heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI1255_002424 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.846dup r.(?) p.(Glu283ArgfsTer12) Unknown - likely pathogenic g.73651639dup g.73424511dup c.849dup - ALMS1_000713 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1288 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
-?/. - c.901A>C r.(?) p.(Ile301Leu) Unknown - likely benign g.73651694A>C g.73424566A>C ALMS1(NM_015120.4):c.901A>C (p.(Ile302Leu)) - ALMS1_000830 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.964G>T r.(?) p.(Glu322Ter) Parent #1 - likely pathogenic g.73651757G>T g.73424629G>T ALMS1, variant 1: c.967G>T/p.E323*, variant 2: c.5145T>G/p.Y1715* - ALMS1_000776 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 374 PubMed: Weisschuh 2020 Filing key number: 125, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.964G>T r.(?) p.(Glu322Ter) Parent #1 - likely pathogenic g.73651757G>T g.73424629G>T ALMS1, variant 1: c.967G>T/p.E323*, variant 2: c.5145T>G/p.Y1715* - ALMS1_000776 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 375 PubMed: Weisschuh 2020 Filing key number: 125, Leber congenital amaurosis, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1043G>A r.(?) p.(Trp348Ter) Both (homozygous) - likely pathogenic (recessive) g.73651836G>A g.73424708G>A 1043G>A (p.W348*) - ALMS1_000858 - PubMed: Weisschuh 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease CHRO234 PubMed: Weisschuh 2016 family - - Germany - - - - - 1 LOVD
+?/. - c.1051C>T r.(?) p.(Arg351Ter) Parent #1 - likely pathogenic (recessive) g.73651844C>T g.73424716C>T c.1054C>T - ALMS1_000706 - PubMed: Xu 2016, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT230 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1144C>T r.(?) p.(His382Tyr) Unknown - likely pathogenic g.55955604G>A g.54195844G>A p.(His3882Tyr) - ALMS1_000875 expression cloning mini-gene splicing assay shows no effect on splicing PubMed: Castro Sanchez 2015, PubMed: Alvarez-Satta 2017 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 - F - Spain Spanish - - - - 2 LOVD
+/. - c.1196_1202del r.(?) p.(Thr399LysfsTer11) Unknown - pathogenic g.73651989_73651995del g.73424861_73424867del 1196_1202delCACAGGA - ALMS1_000438 - - - - Unknown - - - - - DNA SEQ - - ? - - - ? - (Germany) - - - - - 1 IMGAG
+/. - c.1196_1202del r.(?) p.(Thr399LysfsTer11) Unknown ACMG pathogenic g.73651989_73651995del g.73424861_73424867del ALMS1 c.1199_1205del, p.(Thr400Lysfs*11) - ALMS1_000438 compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 1_1 PubMed: Zhu 2022 family 1, individual 1 M - - - - - - - 1 LOVD
-?/. - c.1338+19A>G r.(=) p.(=) Unknown - likely benign g.73653700A>G g.73426572A>G ALMS1(NM_015120.4):c.1341+19A>G - ALMS1_000845 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1353G>A r.(?) p.(Ser451=) Unknown - likely benign g.73659340G>A g.73432212G>A ALMS1(NM_001378454.1):c.1353G>A (p.(Ser451Ser)) - ALMS1_000852 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1433-2A>G r.spl? p.? Unknown - VUS g.73675088A>G - ALMS1(NM_015120.4):c.1436-2A>G - ALMS1_000879 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1529T>A r.(?) p.(Leu510Ter) Unknown ACMG likely pathogenic (recessive) g.73675186T>A g.73448056T>A c.1529T>A - ALMS1_000827 - - - - Germline - - - - - DNA SEQ-NG-I fibroblasts WES Healthy/Control - - - M - - - - - - - 1 Viktoriia Zabnenkova
+?/. - c.1625T>A r.(?) p.(Leu542Ter) Parent #1 - likely pathogenic g.73675279T>A g.73448152T>A ALMS1, variant 1: c.1628T>A/p.L543*, variant 2: c.10149dup/p.S3384Qfs*7 - ALMS1_000777 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET8 targeted sequencing panel - see paper retinal disease 682 PubMed: Weisschuh 2020 Filing key number: 248, unclassified / mixed, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.1671del r.(?) p.(Pro558LeufsTer37) Unknown - likely pathogenic g.73675325del g.73448198del c.1674del - ALMS1_000714 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG1296 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1727C>G r.(?) p.(Ser576Ter) Both (homozygous) - pathogenic (recessive) g.73675381C>G g.73448254C>G 1730C>G - ALMS1_000757 - PubMed: Redin-2012 - - Germline yes - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Portugal - - - - - 1 LOVD
+/. - c.1727C>G r.(?) p.(Ser576Ter) Unknown - pathogenic g.73675381C>G g.73448254C>G c.1730C>G - ALMS1_000757 - Villafuerte-de la Cruz RA, et al., 2023. Submitted ClinVar-801720 rs756389027 Germline yes - - - - DNA SEQ-NG-I - - ALMS 3453231 Villafuerte-de la Cruz RA, et al., 2023. Submitted - M no Mexico Hispanic - - - None 1 Rocio Villafuerte-de la Cruz
+?/. - c.1732del r.(?) p.(Arg578GlyfsTer17) Unknown - likely pathogenic g.73675386del g.73448259del ALMS1 c.1729delA, p.Arg577GlyfsTer17 - ALMS1_000325 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing NDD G008210 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
-?/. - c.1871A>G r.(?) p.(His624Arg) Parent #1 - likely benign g.73675525A>G g.73448398A>G c.1868A>G - ALMS1_000328 17 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs41291187 Germline - 17/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 17 Mohammed Faruq
+?/. - c.1894dup r.(?) p.(Tyr632LeufsTer9) Parent #1 - likely pathogenic g.73675548dup g.73448421dup ALMS1, variant 1: c.1897dup/p.Y633Lfs*9, variant 2: c.6571_6574del/p.S2191Mfs*15 - ALMS1_000778 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 611 PubMed: Weisschuh 2020 Filing key number: 220, unclassified / mixed, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
-?/. - c.1899A>G r.(?) p.(Gln633=) Unknown - likely benign g.73675553A>G g.73448426A>G ALMS1(NM_015120.4):c.1902A>G (p.Q634=) - ALMS1_000799 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2036A>G r.(?) p.(Tyr679Cys) Paternal (confirmed) - pathogenic g.73675690A>G g.73448563A>G - - ALMS1_000254 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.2038C>G r.(?) p.(Arg680Gly) Unknown - VUS g.73675692C>G g.73448565C>G ALMS1(NM_015120.4):c.2041C>G (p.R681G) - ALMS1_000849 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2067del r.(?) p.(Asp690IlefsTer4) Parent #1 - likely pathogenic g.73675721del g.73448594del 2064del (D689IfsX4) - ALMS1_000859 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 128 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. - c.2087C>A r.(?) p.(Ser696Ter) Both (homozygous) - likely pathogenic (recessive) g.73675741C>A g.73448614C>A c.2090C>A - ALMS1_000707 - PubMed: Xu 2016, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT148 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.2087C>A r.(?) p.(Ser696Ter) Both (homozygous) - likely pathogenic (recessive) g.73675741C>A g.73448614C>A c.2090C>A - ALMS1_000707 - PubMed: Xu 2016, PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT395 PubMed: Xu 2016, PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.2087C>A r.(?) p.(Ser696Ter) Both (homozygous) - likely pathogenic g.73675741C>A g.73448614C>A 2084C>A (S695X) - ALMS1_000707 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 162 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
-?/. - c.2122A>G r.(?) p.(Thr708Ala) Unknown - likely benign g.73675776A>G g.73448649A>G ALMS1(NM_015120.4):c.2125A>G (p.(Thr709Ala)) - ALMS1_000843 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2212del r.(?) p.(Glu738ArgfsTer41) Parent #1 - pathogenic (recessive) g.73675866del g.73448739del 2215delC - ALMS1_000699 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam32PatFBP_170 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+/. - c.2294C>G r.(?) p.(Ser765*) Unknown - pathogenic g.73675948C>G g.73448821C>G - - ALMS1_000800 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2296C>T r.(?) p.(Gln766Ter) Both (homozygous) - pathogenic (recessive) g.73675950C>T g.73448823C>T 2293C>T - ALMS1_000873 - PubMed: Aliferis 2012 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Aliferis-2012 novel M - - - - - - - 1 LOVD
+?/. - c.2308_2309del r.(?) p.(Pro770Ter) Parent #1 - likely pathogenic g.73675962_73675963del g.73448835_73448836del ALMS1, variant 1: c.2317_2318del/p.I773Ffs*13, variant 2: c.2311_2312del/p.I771Ffs*13 - ALMS1_000779 error in annotation, protein change should be p.(Pro771*) and not p.(Ile771Phefs*13), might be a different transcript, solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 541 PubMed: Weisschuh 2020 Filing key number: 191, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.2314_2315del r.(?) p.(Ile772PhefsTer13) Parent #1 - likely pathogenic g.73675968_73675969del g.73448841_73448842del ALMS1, variant 1: c.2317_2318del/p.I773Ffs*13, variant 2: c.2311_2312del/p.I771Ffs*13 - ALMS1_000434 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 541 PubMed: Weisschuh 2020 Filing key number: 191, unclassified / mixed, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.2416G>C r.(?) p.(Val806Leu) Unknown - VUS g.73676070G>C g.73448943G>C c.2413G>C (V805L) - ALMS1_000656 30/1266 control chromosomes PubMed: Xu 2015 - rs138921247 Germline - 8/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP160 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.2416G>C r.(?) p.(Val806Leu) Unknown - VUS g.73676070G>C g.73448943G>C c.2413G>C (V805L) - ALMS1_000656 30/1266 control chromosomes PubMed: Xu 2015 - rs138921247 Germline - 8/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP190 PubMed: Xu 2014 - - - China - - - - - 1 LOVD
?/. - c.2416G>C r.(?) p.(Val806Leu) Unknown - VUS g.73676070G>C g.73448943G>C c.2413G>C (V805L) - ALMS1_000656 30/1266 control chromosomes PubMed: Xu 2015 - rs138921247 Germline - 8/314 case chromosomes - - - DNA SEQ-NG - gene panel retinal disease RP367 PubMed: Xu 2014 patient M - China - - - - - 1 LOVD
+/. 8 c.2533G>T r.(?) p.(Gly846Ter) Parent #1 - pathogenic (recessive) g.73676187G>T g.73449060G>T - - ALMS1_000445 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - M - - - - - - - 1 Marta de Castro-Miró
+/. - c.2643dup r.(?) p.(Glu882*) Unknown - pathogenic g.73676297dup g.73449170dup ALMS1(NM_015120.4):c.2646dupT (p.E883*) - ALMS1_000846 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2663C>G r.(?) p.(Ser888Ter) Parent #1 ACMG likely pathogenic g.73676317C>G g.73449190C>G ALMS1, c.2660C>G, p.Ser887*, compound heterozygous - ALMS1_000788 different transcript: ENST00000264448.6(ALMS1):c.2660C>G, p.Ser887*, compound heterozygous PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing retinal disease RP-0903 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.2726C>G r.(?) p.(Ser909Ter) Unknown - likely pathogenic g.73676380C>G g.73449253C>G c.2729C>G - ALMS1_000715 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1583 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.2758C>T r.(?) p.(Gln920Ter) Paternal (confirmed) - likely pathogenic g.73676412C>T g.73449285C>T ALMS1 p.Q920X, p.R2928X - ALMS1_000773 different transcript NM_001378454.1(ALMS1):c.2758C>T, p.Q920X PubMed: Hirano 2020 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease Patient-1 PubMed: Hirano 2020 - M no Japan - - - - - 1 LOVD
?/. - c.2775dup r.(?) p.(Leu926Serfs*4) Unknown - VUS g.73676429dup g.73449302dup ALMS1(NM_015120.4):c.2772dup (p.(Leu927Serfs*4)) - ALMS1_000838 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.2819T>A r.(?) p.(Leu940Ter) Unknown - pathogenic g.73676473T>A g.73449346T>A c.2816T>A(p.L939*) - ALMS1_000774 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG, arrayCGH, SEQ blood - retinal disease 4 PubMed: Wang 2016 - M - United States - - - - - 1 LOVD
?/. - c.2819T>A r.(?) p.(Leu940Ter) Unknown - VUS g.73676473T>A g.73449346T>A ALMS1 nucleotide 1, protein 1:c.2822T>A, p.Leu941* nucleotide 2, protein 2:c.10483C>T, p.Gln3495* - ALMS1_000774 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 45 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+/. - c.2954_2955insCTGGACTGCTATT r.(?) p.(Gly986TrpfsTer8) Both (homozygous) - pathogenic (recessive) g.73676608_73676609insCTGGACTGCTATT g.73449481_73449482insCTGGACTGCTATT 2:73676607C>CCTGGACTGCTATT ENST00000264448.6:c.2958_2959insCTATTCTGGACTG (Thr987LeufsTer6) - ALMS1_000638 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease W000162 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Asia-South - - - - 1 LOVD
+?/. - c.2955_2956insCTATTCTGGACTG r.(?) p.(Gly986LeufsTer8) Both (homozygous) - likely pathogenic g.73676609_73676610insCTATTCTGGACTG g.73449482_73449483insCTATTCTGGACTG ALMS1 c.2958_2959insCTATTCTGGACTG, p.Thr987LeufsTer6 - ALMS1_000780 homozygous, error in annotation: c.2958_2959insCTATTCTGGACTG causes p.Gly987Leufs*8 and not p.Thr987Leufs*6; retired ENSEMBL transcript used PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease W000162 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+/. - c.2991_2992del r.(?) p.(Val998ThrfsTer8) Parent #1 ACMG pathogenic g.73676645_73676646del g.73449518_73449519del ALMS1 NM_015120: g.63760_63761delAG, c.2988_2989delAG, p.V997Tfs*8 - ALMS1_000758 different transcript: ENST00000264448.6(ALMS1):c.2988_2989del PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 10131 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+/. 8 c.2999C>G r.(?) p.(Ser1000Ter) Unknown - pathogenic g.73676653C>G g.73449526C>G c.2996C>G - ALMS1_000725 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 patient carry novel LOF mutation in other retinal disease genes - no - - - - - - 1 Julia Lopez
+/. - c.3056dup r.(?) p.(Asp1019GlufsTer2) Parent #2 - pathogenic (recessive) g.73676710dup g.73449583dup 3059dupA - ALMS1_000700 - PubMed: Porto 2017 - - Germline - - - - - DNA SEQ-NG - 300-gene panel retinal disease Fam32PatFBP_170 PubMed: Porto 2017 proband - - Brazil - - - - - 1 LOVD
+?/. - c.3184C>T r.(?) p.(Gln1062Ter) Parent #2 - likely pathogenic g.73676838C>T g.73449711C>T 3181C>T (Q1061X) - ALMS1_000863 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 165 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
-?/. - c.3255G>T r.(?) p.(Gln1085His) Unknown - likely benign g.73676909G>T g.73449782G>T ALMS1(NM_015120.4):c.3258G>T (p.Q1086H) - ALMS1_000801 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3305A>C r.(?) p.(Lys1102Thr) Unknown - likely benign g.73676959A>C g.73449832A>C ALMS1(NM_015120.4):c.3308A>C (p.K1103T) - ALMS1_000840 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.3343del r.(?) p.(His1115IlefsTer7) Both (homozygous) - pathogenic g.73676997del g.73449870del c.[3340del] - ALMS1_000759 - PubMed: Redin-2012 - - Germline - - - - - DNA arrayCNV, SEQ blood - retinal disease - PubMed: Redin-2012 - - - Turkey - - - - - 1 LOVD
?/. - c.3596G>A r.(?) p.(Gly1199Asp) Unknown - VUS g.73677250G>A g.73450123G>A ALMS1(NM_015120.4):c.3599G>A (p.G1200D) - ALMS1_000802 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3656C>G r.(?) p.(Ser1219Ter) Parent #1 - pathogenic (recessive) g.73677310C>G g.73450183C>G 3653C>G - ALMS1_000870 - PubMed: Liu 2015 - - Germline - - - - - DNA SEQ-NG - 316-gene panel retinal disease RH10-PatII1 PubMed: Liu 2015 - M - China - - - - - 1 LOVD
+/. - c.3895C>T r.(?) p.(Gln1299*) Unknown - pathogenic g.73677549C>T g.73450422C>T ALMS1(ENST00000264448.6):c.3892C>T - ALMS1_000831 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3899C>A r.(?) p.(Ser1300Ter) Parent #1 - likely pathogenic g.73677553C>A g.73450426C>A C3896A p.S1299X - ALMS1_000760 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam29 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - - - - 1 LOVD
+/. - c.3899C>A r.(?) p.(Ser1300Ter) Parent #2 - pathogenic (recessive) g.73677553C>A g.73450426C>A 3896C>A (Ser1299*) - ALMS1_000760 - PubMed: Consugar 2015 - - Germline yes - - - - DNA SEQ-NG - 238-gene panel retinal disease OGI-322-765 PubMed: Consugar 2015 - - - United States - - - - - 1 LOVD
+/. - c.3899C>A r.(?) p.(Ser1300Ter) Parent #2 ACMG pathogenic g.73677553C>A g.73450426C>A ALMS1 NM_015120: g.64668C>A, c.3896C>A, p.S1299X - ALMS1_000760 different transcript: ENST00000264448.6(ALMS1):c.3896C>A PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ - targeted next-generation sequencing/Sanger sequencing retinal disease 67280 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 8 c.3899C>A r.(?) p.(Ser1300Ter) Unknown - likely pathogenic (recessive) g.73677553C>A g.73450426C>A c.3896C>A - ALMS1_000760 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+/. 8 c.3922G>T r.(?) p.(Glu1308Ter) Parent #2 - pathogenic (recessive) g.73677576G>T g.73450449G>T c.3919G>T - ALMS1_000446 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - LCA - - - M - - - - - - - 1 Marta de Castro-Miró
-/. - c.3936T>C r.(?) p.(Asn1312=) Unknown - benign g.73677590T>C g.73450463T>C ALMS1(NM_015120.4):c.3939T>C (p.N1313=) - ALMS1_000803 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3977T>C r.(?) p.(Ile1326Thr) Unknown - VUS g.73677631T>C - ALMS1(NM_015120.4):c.3980T>C (p.(Ile1327Thr)) - ALMS1_000880 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.4147dup r.(?) p.(Gln1383ProfsTer17) Unknown ACMG likely pathogenic g.73677801dup g.73450674dup ALMS1 c.4150dup, p.(Thr1384Asnfs*15) - ALMS1_000702 different transcript: single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 342 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. 8 c.4153dup r.(?) p.(Thr1385AsnfsTer15) Unknown ACMG pathogenic (recessive) g.73677807dup g.73450680dup c.4156dup - ALMS1_000702 ACMG: Class 5 (PVS1, PM3, PS4_SUP, PM2_SUP) PMID: 25706677, 25296579, 23188138, 28432734, ClinVar-000210127 - Germline yes - - - - DNA SEQ-NG-I - - ALMS 176610 - - F - Germany - - - - - 1 Andreas Laner
-?/. - c.4204A>G r.(?) p.(Thr1402Ala) Unknown - likely benign g.73677858A>G g.73450731A>G ALMS1(NM_015120.4):c.4201A>G (p.(Thr1403Ala)) - ALMS1_000832 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4244G>A r.(?) p.(Gly1415Asp) Unknown - VUS g.73677898G>A - ALMS1(NM_015120.4):c.4247G>A (p.(Arg1416Gln)) - ALMS1_000881 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.4249del r.(?) p.(Arg1417GlyfsTer55) Both (homozygous) - pathogenic (recessive) g.73677903del g.73450776del c.4252del - ALMS1_000665 - PubMed: Sanchez-Navarro 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - retinal disease RP-1232 PubMed: Sanchez-Navarro 2018 - - - Spain - - - - - 1 LOVD
-?/. - c.4291C>A r.(?) p.(His1431Asn) Unknown - likely benign g.73677945C>A - ALMS1(NM_001378454.1):c.4288C>A (p.(His1430Asn)) - ALMS1_000886 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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