Unique variants in the ALMS1 gene

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_015120.4 transcript reference sequence.

449 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/., +?/., ?/. 32 - c.? r.?, r.spl p.? - likely pathogenic, likely pathogenic (recessive), pathogenic (recessive), VUS g.? - 10235A>G (E3412G), 1043G>A (p.W348*), 11110_11128del (R3704LfsX11), 2064del (D689IfsX4), 25 more items - SNRNP200_000007 0/1266 control chromosomes, 1/1266 control chromosomes, 11/1266 control chromosomes, 2 more items PubMed: Consugar 2015, PubMed: Costa 2017, PubMed: Liu 2015, PubMed: Wang 2015, PubMed: Wang 2016, 3 more items - rs138921247, rs192499639, rs200432874, rs201874722, rs546111188 Germline yes 1/314 case chromosomes, 2/314 case chromosomes, 8/314 case chromosomes - - - LOVD
-?/. 1 - c.-2A>T r.(?) p.(=) - likely benign g.73612995A>T - ALMS1(NM_015120.4):c.-2A>T - ALMS1_000641 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 5 - c.35_41= r.(=) p.(Leu12=) - benign, likely benign g.73613068_73613070dup - 1 more item - ALMS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.38_39delinsGAGGAGGA r.(?) p.(Glu13delinsGlyGlyGly) - likely benign g.73613033_73613034insGAGGAGGAG - - - ALMS1_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.51_77del r.(?) p.(Glu21_Glu29del) - VUS g.73613047_73613070del - - - ALMS1_000450 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.54_55insTAG r.(?) p.(Glu19*) - likely pathogenic g.73613050_73613051insTAG - - - ALMS1_000634 - - - - Unknown - - - - - Cordula Haas
-/. 1 - c.57_77del r.(?) p.(Glu23_Glu29del) - benign g.73613053_73613070del - ALMS1(NM_015120.4):c.60_77delGGAGGAGGAGGAGGAGGA (p.E24_E29del) - ALMS1_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.60_61del r.(?) p.(Glu21GlyfsTer106) - likely benign g.73613053_73613054del - ALMS1(NM_015120.4):c.57_58del (p.(Glu20Glyfs*107)) - ALMS1_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.60_77del r.(?) p.(Glu24_Glu29del) - benign g.73613056_73613070del - ALMS1(NM_015120.4):c.63_77delGGAGGAGGAGGAGGA (p.E25_E29del) - ALMS1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.63_77del r.(?) p.(Glu25_Glu29del) - likely benign g.73613059_73613070del - ALMS1(NM_015120.4):c.66_77delGGAGGAGGAGGA (p.E26_E29del) - ALMS1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.64del r.(?) p.(Glu22ArgfsTer20) - likely benign g.73613057del - ALMS1(NM_015120.4):c.61del (p.(Glu21Argfs*21)) - ALMS1_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 4 - c.66_77del r.(?) p.(Glu26_Glu29del) - benign, likely benign g.73613062_73613070del - 1 more item - ALMS1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.66_77dup r.(?) p.(Glu26_Glu29dup) - likely benign g.73613056_73613070dup - ALMS1(NM_015120.4):c.60_74dupGGAGGAGGAGGAGGA (p.E24_E28dup) - ALMS1_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 5 - c.69_77del r.(?) p.(Glu27_Glu29del) - benign, likely benign g.73613065_73613070del - 1 more item - ALMS1_000286, ALMS1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.69_77dup r.(?) p.(Glu27_Glu29dup) - likely benign g.73613059_73613070dup - ALMS1(NM_015120.4):c.66_77dupGGAGGAGGAGGA (p.E26_E29dup) - ALMS1_000642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.71_72insAGAGGA r.(?) p.(Glu28_Glu29dup) - benign, likely benign g.73613064_73613065insAGAGGA - 1 more item - ALMS1_000454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 6 - c.72_77del r.(?) p.(Glu28_Glu29del) - benign, likely benign g.73613068_73613070del - 1 more item - ALMS1_000285, ALMS1_000294, ALMS1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/., -?/. 3 - c.72_77dup r.(?) p.(Glu28_Glu29dup) - benign, likely benign g.73613062_73613070dup - 1 more item - ALMS1_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/., ?/. 5 - c.75_77dup r.(?) p.(Glu28dup), p.(Glu29dup) - benign, likely benign, VUS g.73613065_73613070dup, g.73613071_73613073dup - 36_44delinsGGAGGAGGAGGA, 1 more item - ALMS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record, De novo - - - - - Johan den Dunnen, VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 2 - c.78A>G r.(?) p.(Glu26=) - likely benign g.73613071A>G - ALMS1(NM_015120.4):c.75A>G (p.E25=) - ALMS1_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.103_108dup r.(?) p.(Ala35_Ala36dup) - likely benign g.73613096_73613101dup - ALMS1(NM_015120.4):c.90_91insGCGGCG (p.(Ala35_Ala36dup)) - ALMS1_000630 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.116A>G r.(?) p.(Asp39Gly) - likely benign g.73613109A>G - ALMS1(NM_015120.4):c.113A>G (p.D38G) - ALMS1_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.124G>C r.(?) p.(Val42Leu) - VUS g.73613117G>C - ALMS1(NM_015120.4):c.121G>C (p.V41L) - ALMS1_000727 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.129C>A r.(?) p.(Val43=) - likely benign g.73613122C>A - ALMS1(NM_015120.4):c.126C>A (p.V42=) - ALMS1_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.171C>T r.(?) p.(Ser57=) - likely benign g.73613164C>T - ALMS1(NM_015120.4):c.168C>T (p.S56=) - ALMS1_000643 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.231C>G r.(?) p.(Ala77=) - benign, likely benign g.73613224C>G - ALMS1(NM_015120.4):c.228C>G (p.A76=), ALMS1(NM_015120.4):c.231C>G (p.A77=) - ALMS1_000458 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.281C>T r.(?) p.(Pro94Leu) - likely benign g.73613274C>T - ALMS1(NM_015120.4):c.278C>T (p.P93L) - ALMS1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.299C>A r.(?) p.(Ser100*) - likely pathogenic g.73613295C>A g.73386167C>A - - ALMS1_000626 - PubMed: Holtan 2020 - - Germline - 1/899 cases - - - Global Variome, with Curator vacancy
-/. 1 - c.318C>T r.(?) p.(Ser106=) - benign g.73613311C>T - ALMS1(NM_015120.4):c.318C>T (p.S106=) - ALMS1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 1 c.323A>G r.(?) p.(Lys108Arg) - likely benign g.73613319A>G - A323G - ALMS1_000637 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - - - Johan den Dunnen
+/. 1 - c.324+4066_10381+3639delinsCACTT r.? p.? - pathogenic g.73617386_73789908delinsCACTT - del exon16_17 / del exon2_15 73617393-73789869del - ALMS1_000701 172,476 bp deletion, 5 bp insertion PubMed: Lindstrand 2016 - - Germline - - - - - LOVD
?/. 1 - c.334C>G r.(?) p.(Pro112Ala) - VUS g.73635756C>G - ALMS1(NM_015120.4):c.331C>G (p.P111A) - ALMS1_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.346C>T r.(?) p.(His116Tyr) - likely benign g.73635768C>T - ALMS1(NM_015120.4):c.343C>T (p.H115Y) - ALMS1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.435G>A r.(?) p.(Arg145=) - likely benign g.73635857G>A - ALMS1(NM_015120.4):c.432G>A (p.R144=), ALMS1(NM_015120.4):c.435G>A (p.R145=) - ALMS1_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.453+7C>A r.(=) p.(=) - benign g.73635882C>A - ALMS1(NM_015120.4):c.453+7C>A - ALMS1_000644 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.454-14dup r.(=) p.(=) - benign g.73646237dup - ALMS1(NM_015120.4):c.454-17_454-16insT - ALMS1_000645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.567del r.(?) p.(Ser190LeufsTer7) - pathogenic g.73646364del g.73419236del - - ALMS1_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.594A>C r.(?) p.(Gln198His) - likely benign g.73646391A>C - ALMS1(NM_015120.4):c.591A>C (p.Q197H) - ALMS1_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.604C>G r.(?) p.(Gln202Glu) - likely benign g.73646401C>G - ALMS1(NM_015120.4):c.601C>G (p.(Gln202Glu)), ALMS1(NM_015120.4):c.604C>G (p.Q202E) - ALMS1_000621 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_AMC
?/. 1 - c.620A>T r.(?) p.(Asn207Ile) - VUS g.73646417A>T - ALMS1(NM_015120.4):c.617A>T (p.N206I) - ALMS1_000728 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.649+8C>G r.(=) p.(=) - benign g.73646454C>G - ALMS1(NM_015120.4):c.649+8C>G - ALMS1_000646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.674C>A r.(?) p.(Pro225His) - benign, likely benign g.73650009C>A - ALMS1(NM_015120.4):c.671C>A (p.(Pro225His)), ALMS1(NM_015120.4):c.674C>A (p.P225H) - ALMS1_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
?/. 1 - c.719C>A r.(?) p.(Ala240Glu) ACMG VUS g.73650057C>A g.73422929C>A .716C>A Ala239Glu) - ALMS1_000635 ACMG PM2, BP4 PubMed: Zenteno 2020 - - Germline - 1/143 cases - - - Johan den Dunnen
+?/. 1 - c.767G>A r.(?) p.(Arg256Lys) - likely pathogenic g.73650102G>A g.73422974G>A - - ALMS1_000712 - PubMed: Patel 2016 - - Germline - - - - - LOVD
-/. 1 - c.767+19_767+20insAGTAACCTTTCTCACTTCT r.(=) p.(=) - benign g.73650121_73650122insAGTAACCTTTCTCACTTCT - ALMS1(NM_015120.4):c.767+19_767+20insAGTAACCTTTCTCACTTCT - ALMS1_000464 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 4 - c.767+20T>A r.(=) p.(=) - benign g.73650122T>A - ALMS1(NM_015120.4):c.767+20T>A - ALMS1_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.778G>C r.(?) p.(Asp260His) - benign g.73651568G>C - ALMS1(NM_015120.4):c.778G>C (p.D260H) - ALMS1_000465 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/., +?/. 6 5 c.808C>T r.(?) p.(Arg270*) ACMG likely pathogenic, pathogenic, pathogenic (recessive) g.73651598C>T, g.73651601C>T g.73424470C>T, g.73424473C>T ALMS1(NM_015120.4):c.805C>T (p.R269*) - ALMS1_000281 VKGL data sharing initiative Nederland, 1 more item Sharon, submitted, PubMed: Lazar 2015, Journal: Lazar 2015, PubMed: Lazar 2015; Journal: Lazar 2015, 2 more items - - CLASSIFICATION record, Germline yes 1/2420 IRD families - - - Global Variome, with Curator vacancy, Johan den Dunnen, Dror Sharon, Pieter Klap, VKGL-NL_Rotterdam
-?/. 1 - c.809G>A r.(?) p.(Arg270Gln) - likely benign g.73651599G>A - ALMS1(NM_015120.4):c.806G>A (p.(Arg270Gln)) - ALMS1_000466 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.849A>C r.(?) p.(Ala283=) - VUS g.73651639A>C - - - ALMS1_000580 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 - c.849dup r.(?) p.(Glu284ArgfsTer12) - likely pathogenic g.73651639dup g.73424511dup - - ALMS1_000713 - PubMed: Patel 2016 - - Germline - - - - - LOVD
-/., -?/. 2 - c.864C>T r.(?) p.(Asp288=) - benign, likely benign g.73651654C>T - ALMS1(NM_015120.4):c.861C>T (p.D287=), ALMS1(NM_015120.4):c.864C>T (p.D288=) - ALMS1_000467 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 3 - c.948T>C r.(?) p.(Ser316=) - benign, likely benign g.73651738T>C - ALMS1(NM_015120.4):c.945T>C (p.S315=), ALMS1(NM_015120.4):c.948T>C (p.S316=) - ALMS1_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.978G>A r.(?) p.(Ser326=) - likely benign g.73651768G>A - ALMS1(NM_015120.4):c.978G>A (p.S326=) - ALMS1_000647 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1021G>C r.(?) p.(Asp341His) - likely benign g.73651811G>C - ALMS1(NM_015120.4):c.1021G>C (p.D341H) - ALMS1_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1024G>C r.(?) p.(Asp342His) - likely benign g.73651814G>C - ALMS1(NM_015120.4):c.1024G>C (p.D342H) - ALMS1_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1054C>T r.(?) p.(Arg352Ter) - likely pathogenic (recessive) g.73651844C>T g.73424716C>T - - ALMS1_000706 - PubMed: Xu 2016, PubMed: Huang 2016 - - Germline - - - - - Johan den Dunnen
-/. 1 - c.1147A>G r.(?) p.(Thr383Ala) - benign g.73651937A>G - ALMS1(NM_015120.4):c.1147A>G (p.T383A) - ALMS1_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1164T>C r.(?) p.(His388=) - likely benign g.73651954T>C - ALMS1(NM_015120.4):c.1164T>C (p.H388=) - ALMS1_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 3 - c.1177C>T r.(?) p.(Arg393Cys) - benign g.73651967C>T - ALMS1(NM_015120.4):c.1177C>T (p.R393C) - ALMS1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.1185T>C r.(?) p.(Tyr395=) - likely benign g.73651975T>C - ALMS1(NM_015120.4):c.1182T>C (p.Y394=) - ALMS1_000312 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1199_1205del r.(?) p.(Thr399Lysfs*11) - pathogenic g.73651989_73651995del g.73424861_73424867del 1196_1202delCACAGGA - ALMS1_000438 - - - - Unknown - - - - - IMGAG
?/. 1 - c.1208A>G r.(?) p.(Asp403Gly) - VUS g.73651998A>G - ALMS1(NM_015120.4):c.1205A>G (p.D402G) - ALMS1_000313 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1240+9C>G r.(=) p.(=) - likely benign g.73652039C>G - ALMS1(NM_015120.4):c.1240+9C>G - ALMS1_000648 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1241-20A>G r.(=) p.(=) - likely benign g.73653561A>G - ALMS1(NM_015120.4):c.1241-20A>G - ALMS1_000314 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.1255A>G r.(?) p.(Lys419Glu) - VUS g.73653595A>G - ALMS1(NM_015120.4):c.1255A>G (p.K419E) - ALMS1_000315 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 3 - c.1270G>A r.(?) p.(Val424Ile) - benign, likely benign g.73653610G>A - ALMS1(NM_015120.4):c.1267G>A (p.V423I, p.(Val424Ile)), ALMS1(NM_015120.4):c.1270G>A (p.V424I) - ALMS1_000316 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/., ?/. 2 - c.1342C>G r.(?) p.(Pro448Ala) - likely benign, VUS g.73659326C>G - ALMS1(NM_015120.4):c.1339C>G (p.P447A), ALMS1(NM_015120.4):c.1342C>G (p.P448A) - ALMS1_000317 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., ?/. 2 - c.1346C>G r.(?) p.(Thr449Arg) - benign, VUS g.73659330C>G - ALMS1(NM_015120.4):c.1343C>G (p.T448R), ALMS1(NM_015120.4):c.1346C>G (p.T449R) - ALMS1_000469 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1370C>T r.(?) p.(Ser457Leu) - likely benign g.73659354C>T - ALMS1(NM_015120.4):c.1367C>T (p.(Ser457Leu)) - ALMS1_000581 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1389G>A r.(?) p.(Arg463=) - VUS g.73659373G>A - - - ALMS1_000470 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1405G>C r.(?) p.(Val469Leu) - likely benign g.73659389G>C - ALMS1(NM_015120.4):c.1405G>C (p.V469L) - ALMS1_000318 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.1435+19T>C r.(=) p.(=) - benign g.73659438T>C - ALMS1(NM_015120.4):c.1435+19T>C - ALMS1_000649 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1436-64del r.(=) p.(=) - benign g.73675026del - ALMS1(NM_015120.4):c.1436-67delT - ALMS1_000319 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1436-3T>C r.spl? p.? - likely benign g.73675087T>C - ALMS1(NM_015120.4):c.1436-3T>C - ALMS1_000650 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 4 - c.1456A>G r.(?) p.(Ile486Val) - benign, likely benign g.73675110A>G - ALMS1(NM_015120.4):c.1453A>G (p.I485V, p.(Ile486Val)), ALMS1(NM_015120.4):c.1456A>G (p.I486V) - ALMS1_000320 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 3 - c.1573_1579= r.(=) p.(Ser525=) - benign g.73675228_73675230dup - 1 more item - ALMS1_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1574_1579del r.(?) p.(Ser525_Pro526del) - likely benign g.73675228_73675230del - - - ALMS1_000473 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1577_1578insCTC r.(?) p.(Pro526_Leu527insSer) - likely benign g.73675228_73675229insCTC - ALMS1(NM_015120.4):c.1577_1578insCTC (p.P526_L527insS) - ALMS1_000472 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1580_1582del r.(?) p.(Leu527_Glu528delinsGln) - likely benign g.73675231_73675233del - ALMS1(NM_015120.4):c.1574_1576delCTC (p.L525_E526delinsQ) - ALMS1_000323 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1612C>G r.(?) p.(Leu538Val) - likely benign g.73675263C>G - ALMS1(NM_015120.4):c.1612C>G (p.L538V) - ALMS1_000324 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.1674del r.(?) p.(Pro559LeufsTer37) - likely pathogenic g.73675325del g.73448198del - - ALMS1_000714 - PubMed: Patel 2016 - - Germline - - - - - LOVD
+/. 1 8 c.1730C>G r.(?) p.? - pathogenic g.73675387C>G - c.[1730C>G] - ALMS1_000757 - PubMed: Redin-2012 - - Germline yes - - - - LOVD
+/. 2 - c.1735del r.(?) p.(Arg579GlyfsTer17) - pathogenic g.73675386del - ALMS1(NM_015120.4):c.1729delA (p.R577Gfs*17), ALMS1(NM_015120.4):c.1735delA (p.R579Gfs*17) - ALMS1_000325 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1736G>C r.(?) p.(Arg579Thr) - VUS g.73675387G>C - ALMS1(NM_015120.4):c.1736G>C (p.R579T) - ALMS1_000474 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.1740del r.(?) p.(Lys581SerfsTer15) - pathogenic g.73675391del - ALMS1(NM_015120.4):c.1732delA (p.K579Sfs*15) - ALMS1_000326 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.1775A>T r.(?) p.(Asp592Val) - likely benign, VUS g.73675426A>T - ALMS1(NM_015120.4):c.1769A>T (p.D590V), ALMS1(NM_015120.4):c.1775A>T (p.D592V) - ALMS1_000327 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.1777A>G r.(?) p.(Ser593Gly) - likely benign g.73675428A>G - - - ALMS1_000582 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1868A>G r.(?) p.(His623Arg) - likely benign g.73675525A>G g.73448398A>G - - ALMS1_000328 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs41291187 Germline - 17/2792 individuals - - - Mohammed Faruq
-/., -?/. 2 - c.1869C>T r.(?) p.(Tyr623=) - benign, likely benign g.73675520C>T - ALMS1(NM_015120.4):c.1863C>T (p.Y621=), ALMS1(NM_015120.4):c.1869C>T (p.Y623=) - ALMS1_000475 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 2 - c.1874A>G r.(?) p.(His625Arg) - benign, likely benign g.73675525A>G - ALMS1(NM_015120.4):c.1868A>G (p.(His625Arg)), ALMS1(NM_015120.4):c.1874A>G (p.H625R) - ALMS1_000328 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Utrecht
-?/. 2 - c.1909T>C r.(?) p.(Leu637=) - likely benign g.73675560T>C - ALMS1(NM_015120.4):c.1903T>C (p.L635=) - ALMS1_000583 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1929C>T r.(?) p.(Thr643=) - likely benign g.73675580C>T - ALMS1(NM_015120.4):c.1929C>T (p.T643=) - ALMS1_000651 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1930G>A r.(?) p.(Glu644Lys) - likely benign g.73675581G>A - ALMS1(NM_015120.4):c.1924G>A (p.(Glu642Lys)) - ALMS1_000476 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1980G>A r.(?) p.(Thr660=) - likely benign g.73675631G>A - ALMS1(NM_015120.4):c.1980G>A (p.T660=) - ALMS1_000652 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2015A>T r.(?) p.(His672Leu) - likely benign g.73675666A>T - ALMS1(NM_015120.4):c.2009A>T (p.H670L) - ALMS1_000477 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 4 - c.2018T>G r.(?) p.(Val673Gly) - benign g.73675669T>G - ALMS1(NM_015120.4):c.2018T>G (p.V673G) - ALMS1_000329 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Nijmegen, VKGL-NL_AMC
./. 1 - c.2033A>G r.(?) p.(Tyr678Cys) - pathogenic g.73675690A>G - - - ALMS1_000254 1 more item PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - Johan den Dunnen
-?/., ?/. 4 - c.2039A>G r.(?) p.(Tyr680Cys) - likely benign, VUS g.73675690A>G - 1 more item - ALMS1_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
?/. 2 - c.2068A>G r.(?) p.(Thr690Ala) - VUS g.73675719A>G - ALMS1(ENST00000264448.6):c.2062A>G, ALMS1(NM_015120.4):c.2062A>G (p.T688A) - ALMS1_000433 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
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