All transcript variants in 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_015120.4 transcript reference sequence.

209 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. - c.34_35insGGAGGA likely benign r.(?) p.(Leu12delinsArgArgMet) g.73613030_73613031insGGAGGA - ALMS1:c.69_74dupGGAGGA (E27_E28dup) - ALMS1_000282 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.34_35insGGAGGA benign r.(?) p.(Leu12delinsArgArgMet) g.73613030_73613031insGGAGGA - ALMS1:c.69_74dupGGAGGA (E27_E28dup) - ALMS1_000282 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.36_38del benign r.(?) p.(Glu28del) g.73613032_73613034del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000285 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.36_41del benign r.(?) p.(Glu27_Glu28del) g.73613032_73613037del - ALMS1:c.69_74delGGAGGA (E27_E28del) - ALMS1_000286 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.36_41del benign r.(?) p.(Glu27_Glu28del) g.73613032_73613037del - ALMS1:c.69_74delGGAGGA (E27_E28del) - ALMS1_000286 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.36_44del benign r.(?) p.(Glu26_Glu28del) g.73613032_73613040del - ALMS1:c.66_74delGGAGGAGGA (E26_E28del) - ALMS1_000287 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.36_44del benign r.(?) p.(Glu26_Glu28del) g.73613032_73613040del - ALMS1:c.66_74delGGAGGAGGA (E26_E28del) - ALMS1_000287 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.36_47del likely benign r.(?) p.(Glu25_Glu28del) g.73613032_73613043del - ALMS1:c.63_74delGGAGGAGGAGGA (E25_E28del) - ALMS1_000288 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.36_50del benign r.(?) p.(Glu24_Glu28del) g.73613032_73613046del - ALMS1:c.60_74delGGAGGAGGAGGAGGA (E24_E28del) - ALMS1_000289 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.36_53del benign r.(?) p.(Glu23_Glu28del) g.73613032_73613049del - ALMS1:c.57_74delGGAGGAGGAGGAGGAGGA (E23_E28del) - ALMS1_000290 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.39_44del benign r.(?) p.(Glu27_Glu28del) g.73613035_73613040del - ALMS1:c.69_74delGGAGGA (E27_E28del) - ALMS1_000291 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.39_44del benign r.(?) p.(Glu27_Glu28del) g.73613035_73613040del - ALMS1:c.69_74delGGAGGA (E27_E28del) - ALMS1_000291 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.40_41insGGA benign r.(?) p.(Glu14delinsGlyLys) g.73613036_73613037insGGA - ALMS1:c.72_74dupGGA (E28dup) - ALMS1_000292 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.40_41insGGA benign r.(?) p.(Glu14delinsGlyLys) g.73613036_73613037insGGA - ALMS1:c.72_74dupGGA (E28dup) - ALMS1_000292 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.40_41insGGA benign r.(?) p.(Glu14delinsGlyLys) g.73613036_73613037insGGA - ALMS1:c.72_74dupGGA (E28dup) - ALMS1_000292 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.40_41insGGA benign r.(?) p.(Glu14delinsGlyLys) g.73613036_73613037insGGA - ALMS1:c.72_74dupGGA (E28dup) - ALMS1_000292 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.40_41insGGAGGA likely benign r.(?) p.(Glu14delinsGlyArgLys) g.73613036_73613037insGGAGGA - ALMS1:c.72_77dupGGAGGA (E28_E29dup) - ALMS1_000293 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.40_41insGGAGGA benign r.(?) p.(Glu14delinsGlyArgLys) g.73613036_73613037insGGAGGA - ALMS1:c.72_77dupGGAGGA (E28_E29dup) - ALMS1_000293 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.42_44del benign r.(?) p.(Glu28del) g.73613038_73613040del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000294 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.42_44del VUS r.(?) p.(Glu28del) g.73613038_73613040del - ALMS1:NM_015120.4:c.42_44del - ALMS1_000294 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.42_44dup likely benign r.(?) p.(Glu28dup) g.73613038_73613040dup - ALMS1:NM_015120.4:c.42_44dup - ALMS1_000295 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.43_44insGGA benign r.(?) p.(Glu15delinsGlyLys) g.73613039_73613040insGGA - ALMS1:c.72_74dupGGA (E28dup) - ALMS1_000297 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.43_44insGGAGGA benign r.(?) p.(Glu15delinsGlyArgLys) g.73613039_73613040insGGAGGA - ALMS1:c.69_74dupGGAGGA (E27_E28dup) - ALMS1_000296 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.43_44insGGAGGA benign r.(?) p.(Glu15delinsGlyArgLys) g.73613039_73613040insGGAGGA - ALMS1:c.69_74dupGGAGGA (E27_E28dup) - ALMS1_000296 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.48_50del benign r.(?) p.(Glu28del) g.73613044_73613046del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000298 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.48_50del benign r.(?) p.(Glu28del) g.73613044_73613046del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000298 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.48_50del likely benign r.(?) p.(Glu28del) g.73613044_73613046del - ALMS1:c.72_74delGGA (E28del) - ALMS1_000298 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.63_64insAGGAAG likely benign r.(?) p.(Glu21_Glu22insArgLys) g.73613059_73613060insAGGAAG - ALMS1:c.68_69insAGAGGA (E27_E28dup) - ALMS1_000299 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.69_74dup likely benign r.(?) p.(Glu27_Glu28dup) g.73613065_73613070dup - ALMS1:NM_015120.4:c.35_36insGGAGGA - ALMS1_000284 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.69_74dup VUS r.(?) p.(Glu27_Glu28dup) g.73613065_73613070dup - ALMS1:NM_015120.4:c.38_39insGGAGGA - ALMS1_000284 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.72_74dup likely benign r.(?) p.(Glu28dup) g.73613068_73613070dup - ALMS1:NM_015120.4:c.35_36insGGA - ALMS1_000283 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.72_74dup likely benign r.(?) p.(Glu28dup) g.73613068_73613070dup - ALMS1:NM_015120.4:c.35_36insGGA - ALMS1_000283 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.278C>T likely benign r.(?) p.(Pro93Leu) g.73613274C>T - ALMS1:c.278C>T (P93L) - ALMS1_000300 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.315C>T benign r.(=) p.(=) g.73613311C>T - ALMS1:c.315C>T (=) - ALMS1_000301 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.432G>A likely benign r.(=) p.(=) g.73635857G>A - ALMS1:c.435G>A (=) - ALMS1_000302 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.671C>A benign r.(?) p.(Pro224His) g.73650009C>A - ALMS1:c.671C>A (P224H) - ALMS1_000303 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.764+19_764+20insGTAACCTTTCTCACTTCTA benign r.(=) p.(=) g.73650121_73650122insGTAACCTTTCTCACTTCTA - ALMS1:c.764+19_764+20insAGTAACCTTTCTCACTTCT - ALMS1_000304 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.764+20T>A benign r.(=) p.(=) g.73650122T>A - ALMS1:c.764+20T>A - ALMS1_000305 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.764+20T>A benign r.(=) p.(=) g.73650122T>A - ALMS1:c.764+20T>A - ALMS1_000305 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T g.73424473C>T - - ALMS1_000281 - PubMed: Lazar 2015; Journal: Lazar 2015 - - Germline yes - - 0 - Johan den Dunnen
+?/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651601C>T g.73424473C>T - - ALMS1_000281 - PubMed: Lazar 2015, Journal: Lazar 2015 - - Germline - - - 0 - Pieter Klap
+/. 5 c.808C>T - r.(?) p.(Arg270*) g.73651598C>T - - - ALMS1_000281 - Sharon, submitted - - Germline - - - 0 - Dror Sharon
-?/. - c.945T>C likely benign r.(=) p.(=) g.73651738T>C - ALMS1:c.945T>C (=) - ALMS1_000306 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1018G>C likely benign r.(?) p.(Asp340His) g.73651811G>C - ALMS1:c.1018G>C (D340H) - ALMS1_000307 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1021G>C likely benign r.(?) p.(Asp341His) g.73651814G>C - ALMS1:c.1021G>C (D341H) - ALMS1_000308 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1144A>G benign r.(?) p.(Thr382Ala) g.73651937A>G - ALMS1:c.1144A>G (T382A) - ALMS1_000309 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1161T>C likely benign r.(=) p.(=) g.73651954T>C - ALMS1:c.1164T>C (=) - ALMS1_000310 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.1174C>T benign r.(?) p.(Arg392Cys) g.73651967C>T - ALMS1:c.1174C>T (R392C) - ALMS1_000311 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.1182T>C likely benign r.(=) p.(=) g.73651975T>C - ALMS1:c.1182T>C (Y394=) - ALMS1_000312 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1199_1205del - r.(?) p.(Thr399Lysfs*11) g.73651986_73651992del - 1196_1202delCACAGGA - ALMS1_000438 - - - - Unknown - - - 0 - IMGAG
?/. - c.1205A>G VUS r.(?) p.(Asp402Gly) g.73651998A>G - ALMS1:c.1205A>G (D402G) - ALMS1_000313 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1238-20A>G likely benign r.(=) p.(=) g.73653561A>G - ALMS1:c.1238-20A>G - ALMS1_000314 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1252A>G VUS r.(?) p.(Lys418Glu) g.73653595A>G - ALMS1:c.1252A>G (K418E) - ALMS1_000315 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1267G>A benign r.(?) p.(Val423Ile) g.73653610G>A - ALMS1:c.1267G>A (V423I) - ALMS1_000316 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1267G>A likely benign r.(?) p.(Val423Ile) g.73653610G>A - ALMS1:c.1267G>A (V423I) - ALMS1_000316 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1339C>G VUS r.(?) p.(Pro447Ala) g.73659326C>G - ALMS1:c.1339C>G (P447A) - ALMS1_000317 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1402G>C likely benign r.(?) p.(Val468Leu) g.73659389G>C - ALMS1:c.1402G>C (V468L) - ALMS1_000318 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1433-70del benign r.(=) p.(=) g.73675020del - ALMS1:c.1433-70delT - ALMS1_000319 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1453A>G likely benign r.(?) p.(Ile485Val) g.73675110A>G - ALMS1:c.1453A>G (I485V) - ALMS1_000320 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1453A>G likely benign r.(?) p.(Ile485Val) g.73675110A>G - ALMS1:c.1453A>G (I485V) - ALMS1_000320 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1453A>G benign r.(?) p.(Ile485Val) g.73675110A>G - ALMS1:c.1453A>G (I485V) - ALMS1_000320 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1569_1570insCTC benign r.(?) p.(Ser523_Ser524insLeu) g.73675226_73675227insCTC - ALMS1:c.1571_1573dupCTC (S524_L525insP) - ALMS1_000321 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1570_1571insCTC likely benign r.(?) p.(Ser524_Leu525insPro) g.73675228_73675230dup - ALMS1:c.1571_1572insCTC (S524dup) - ALMS1_000322 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.1574_1576del likely benign r.(?) p.(Leu525_Glu526delinsGln) g.73675231_73675233del - ALMS1:c.1574_1576delCTC (L525_E526delinsQ) - ALMS1_000323 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1606C>G benign r.(?) p.(Leu536Val) g.73675263C>G - ALMS1:c.1606C>G (L536V) - ALMS1_000324 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1606C>G likely benign r.(?) p.(Leu536Val) g.73675263C>G - ALMS1:c.1606C>G (L536V) - ALMS1_000324 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.1729del pathogenic r.(?) p.(Arg577Glyfs*17) g.73675386del - ALMS1:c.1729delA (R577Gfs*17) - ALMS1_000325 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. - c.1732del pathogenic r.(?) p.(Lys579Serfs*15) g.73675389del - ALMS1:c.1732delA (K579Sfs*15) - ALMS1_000326 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1769A>T VUS r.(?) p.(Asp590Val) g.73675426A>T - ALMS1:c.1769A>T (D590V) - ALMS1_000327 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1868A>G benign r.(?) p.(His623Arg) g.73675525A>G - ALMS1:c.1868A>G (H623R) - ALMS1_000328 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.2012T>G benign r.(?) p.(Val671Gly) g.73675669T>G - ALMS1:c.2012T>G (V671G) - ALMS1_000329 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2012T>G benign r.(?) p.(Val671Gly) g.73675669T>G - ALMS1:c.2012T>G (V671G) - ALMS1_000329 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
./. - c.2033A>G - r.(?) p.(Tyr678Cys) g.73675690A>G - - - ALMS1_000254 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.2033A>G benign r.(?) p.(Tyr678Cys) g.73675690A>G - ALMS1:c.2033A>G (Y678C) - ALMS1_000254 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2033A>G likely benign r.(?) p.(Tyr678Cys) g.73675690A>G - ALMS1:c.2033A>G (Y678C) - ALMS1_000254 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.2033A>G likely benign r.(?) p.(Tyr678Cys) g.73675690A>G - ALMS1:c.2033A>G (Y678C) - ALMS1_000254 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2033A>G VUS r.(?) p.(Tyr678Cys) g.73675690A>G - ALMS1:ENST00000264448.6:c.2033A>G (Tyr678Cys) - ALMS1_000254 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2062A>G VUS r.(?) p.(Thr688Ala) g.73675719A>G - ALMS1:c.2062A>G (T688A) - ALMS1_000433 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.2062A>G VUS r.(?) p.(Thr688Ala) g.73675719A>G - ALMS1:ENST00000264448.6:c.2062A>G (Thr688Ala) - ALMS1_000433 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2149C>T likely benign r.(?) p.(His717Tyr) g.73675806C>T - ALMS1:c.2149C>T (H717Y) - ALMS1_000330 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.2187C>T benign r.(=) p.(=) g.73675844C>T - ALMS1:c.2187C>T (=) - ALMS1_000331 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.2187C>T benign r.(=) p.(=) g.73675844C>T - ALMS1:c.2187C>T (=) - ALMS1_000331 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.2311_2312del pathogenic r.(?) p.(Ile771Phefs*13) g.73675968_73675969del - ALMS1:ENST00000264448.6:c.2311_2312del (Ile771fs) - ALMS1_000434 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.2491G>A likely benign r.(?) p.(Glu831Lys) g.73676148G>A - ALMS1:c.2491G>A (E831K) - ALMS1_000439 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.2658A>G benign r.(=) p.(=) g.73676315A>G - ALMS1:c.2658A>G (=) - ALMS1_000440 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.2662A>G likely benign r.(?) p.(Ile888Val) g.73676319A>G - ALMS1:NM_015120.4:c.2662A>G - ALMS1_000332 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.2761C>T benign r.(=) p.(=) g.73676418C>T - ALMS1:c.2761C>T (=) - ALMS1_000333 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.2761C>T benign r.(=) p.(=) g.73676418C>T - ALMS1:c.2761C>T (=) - ALMS1_000333 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3100C>G likely benign r.(?) p.(Pro1034Ala) g.73676757C>G - ALMS1:c.3100C>G (P1034A) - ALMS1_000441 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.3190T>C benign r.(?) p.(Ser1064Pro) g.73676847T>C - ALMS1:c.3190T>C (S1064P) - ALMS1_000334 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.3308G>A likely benign r.(?) p.(Gly1103Asp) g.73676965G>A - ALMS1:NM_015120.4:c.3308G>A - ALMS1_000335 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.3809C>A likely benign r.(?) p.(Pro1270Gln) g.73677466C>A - ALMS1:c.3809C>A (P1270Q) - ALMS1_000336 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.3939A>C benign r.(=) p.(=) g.73677596A>C - ALMS1:c.3939A>C (=) - ALMS1_000337 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.3998A>G VUS r.(?) p.(Tyr1333Cys) g.73677655A>G - ALMS1:c.3998A>G (Y1333C) - ALMS1_000338 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.4065G>C likely benign r.(?) p.(Glu1355Asp) g.73677722G>C - ALMS1:c.4065G>C (E1355D) - ALMS1_000339 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.4151C>G benign r.(?) p.(Thr1384Arg) g.73677808C>G - ALMS1:c.4151C>G (T1384R) - ALMS1_000442 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.4160C>T VUS r.(?) p.(Pro1387Leu) g.73677817C>T - ALMS1:c.4160C>T (P1387L) - ALMS1_000340 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.4176A>G benign r.(=) p.(=) g.73677833A>G - ALMS1:c.4176A>G (=) - ALMS1_000341 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.4219G>A benign r.(?) p.(Val1407Ile) g.73677876G>A - ALMS1:c.4219G>A (V1407I) - ALMS1_000342 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.4225G>C benign r.(?) p.(Ala1409Pro) g.73677882G>C - ALMS1:c.4225G>C (A1409P) - ALMS1_000343 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
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