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_015120.4 transcript reference sequence.

669 entries on 7 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.? r.? p.? Unknown - VUS g.? - 5294A>G (Asn1765Ser) - SNRNP200_000007 - PubMed: Costa 2017 - - Germline - - - 0 - DNA SEQ-NG - 132-gene panel retinal disease Pat14 PubMed: Costa 2017 - M - Brazil - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic g.? - 5242A>G (T1748A) - SNRNP200_000007 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs546111188 Germline - - - 0 - DNA SEQ WBC - retinal disease PKRD176;61176 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 - M yes Pakistan Pakistani - 0 - - 1 James Hejtmancik
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - c.C3896A p.S1299X - SNRNP200_000007 - PubMed: Wang 2016 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Fam29 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents - - China Han - 0 - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic (recessive) g.? - 1043G>A (p.W348*) - SNRNP200_000007 - PubMed: Weisschuh 2016 - - Germline - - - 0 - DNA SEQ-NG - WES retinal disease CHRO234 PubMed: Weisschuh 2016 family - - Germany - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic g.? - 11110_11128del (R3704LfsX11) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 123 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Both (homozygous) - likely pathogenic g.? - 2084C>A (S695X) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 162 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - 2064del (D689IfsX4) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 128 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - 805C>T (R269X) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 165 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - 5411del (Y1805TfsX23) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 695 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Parent #1 - VUS g.? - 7396G>T (E2466 - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 126 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Both (homozygous) - VUS g.? - 10235A>G (E3412G) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 497 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - 9441_9442insAATA (S3149KfsX2) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 128 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - 3181C>T (Q1061X) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 165 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
+?/. - c.? r.? p.? Parent #2 - likely pathogenic g.? - 5692_5695del (E1899RfsX18) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 695 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Parent #2 - VUS g.? - 9643T>A (S3215T) - SNRNP200_000007 - PubMed: Wang 2015 - - Germline - - - 0 - DNA SEQ-NG - 163-gene panel retinal disease 126 PubMed: Wang 2015 index case - - China - - 0 - - 1 LOVD
?/. - c.? r.spl p.? Unknown - VUS g.? - c.451-5T>G - SNRNP200_000007 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 2/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP016 PubMed: Xu 2014 family F - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.9730G>A (A3244T) - SNRNP200_000007 3/1266 control chromosomes PubMed: Xu 2015 - rs200432874 Germline - 1/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP016 PubMed: Xu 2014 family F - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.5601dupA (D1868Rfs*4) - SNRNP200_000007 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP109 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.9269C>G (S3090C) - SNRNP200_000007 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP109 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.2413G>C (V805L) - SNRNP200_000007 30/1266 control chromosomes PubMed: Xu 2015 - rs138921247 Germline - 8/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP160 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.4326G>T (L1442F) - SNRNP200_000007 11/1266 control chromosomes PubMed: Xu 2015 - rs192499639 Germline - 2/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP160 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.7190C>T (T2397I) - SNRNP200_000007 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP160 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.2413G>C (V805L) - SNRNP200_000007 30/1266 control chromosomes PubMed: Xu 2015 - rs138921247 Germline - 8/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP190 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.4882C>T (R1628W) - SNRNP200_000007 1/1266 control chromosomes PubMed: Xu 2015 - rs201874722 Germline - 2/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP190 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.4326G>T (L1442F) - SNRNP200_000007 11/1266 control chromosomes PubMed: Xu 2015 - rs192499639 Germline - 2/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP308 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.7030C>T (R2344W) - SNRNP200_000007 0/1266 control chromosomes PubMed: Xu 2015 - - Germline - 1/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP308 PubMed: Xu 2014 - - - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.2413G>C (V805L) - SNRNP200_000007 30/1266 control chromosomes PubMed: Xu 2015 - rs138921247 Germline - 8/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP367 PubMed: Xu 2014 patient M - China - - 0 - - 1 LOVD
?/. - c.? r.? p.? Unknown - VUS g.? - c.4882C>T (R1628W - SNRNP200_000007 1/1266 control chromosomes PubMed: Xu 2015 - rs201874722 Germline - 2/314 case chromosomes - 0 - DNA SEQ-NG - gene panel retinal disease RP367 PubMed: Xu 2014 patient M - China - - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? - 3653C>G - SNRNP200_000007 - PubMed: Liu 2015 - - Germline - - - 0 - DNA SEQ-NG - 316-gene panel retinal disease RH10-PatII1 PubMed: Liu 2015 - M - China - - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - 4599C>A - SNRNP200_000007 - PubMed: Liu 2015 - - Germline - - - 0 - DNA SEQ-NG - 316-gene panel retinal disease RH10-PatII1 PubMed: Liu 2015 - M - China - - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (recessive) g.? - 797G>A (Trp266*) - SNRNP200_000007 - PubMed: Consugar 2015 - - Germline yes - - 0 - DNA SEQ-NG - 238-gene panel retinal disease OGI-322-765 PubMed: Consugar 2015 - - - United States - - 0 - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic (recessive) g.? - 3896C>A (Ser1299*) - SNRNP200_000007 - PubMed: Consugar 2015 - - Germline yes - - 0 - DNA SEQ-NG - 238-gene panel retinal disease OGI-322-765 PubMed: Consugar 2015 - - - United States - - 0 - - 1 LOVD
-?/. - c.-2A>T r.(?) p.(=) Unknown - likely benign g.73612995A>T - ALMS1(NM_015120.4):c.-2A>T - ALMS1_000641 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.35_41= r.(=) p.(Leu12=) Unknown - likely benign g.73613068_73613070dup - ALMS1(NM_015120.4):c.35_36insGGA (p.(Leu12_Glu13insGlu)), ALMS1(NM_015120.4):c.72_74dupGGA (p.E28dup), ALMS1(NM_015120.4):c.75_77dupGGA (p.E29dup) - ALMS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.35_41= r.(=) p.(Leu12=) Unknown - benign g.73613068_73613070dup - ALMS1(NM_015120.4):c.35_36insGGA (p.(Leu12_Glu13insGlu)), ALMS1(NM_015120.4):c.72_74dupGGA (p.E28dup), ALMS1(NM_015120.4):c.75_77dupGGA (p.E29dup) - ALMS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.35_41= r.(=) p.(Leu12=) Unknown - benign g.73613068_73613070dup - ALMS1(NM_015120.4):c.35_36insGGA (p.(Leu12_Glu13insGlu)), ALMS1(NM_015120.4):c.72_74dupGGA (p.E28dup), ALMS1(NM_015120.4):c.75_77dupGGA (p.E29dup) - ALMS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.35_41= r.(=) p.(Leu12=) Unknown - benign g.73613068_73613070dup - ALMS1(NM_015120.4):c.35_36insGGA (p.(Leu12_Glu13insGlu)), ALMS1(NM_015120.4):c.72_74dupGGA (p.E28dup), ALMS1(NM_015120.4):c.75_77dupGGA (p.E29dup) - ALMS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.35_41= r.(=) p.(Leu12=) Unknown - benign g.73613068_73613070dup - ALMS1(NM_015120.4):c.35_36insGGA (p.(Leu12_Glu13insGlu)), ALMS1(NM_015120.4):c.72_74dupGGA (p.E28dup), ALMS1(NM_015120.4):c.75_77dupGGA (p.E29dup) - ALMS1_000283 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.38_39delinsGAGGAGGA r.(?) p.(Glu13delinsGlyGlyGly) Unknown - likely benign g.73613033_73613034insGAGGAGGAG - - - ALMS1_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.51_77del r.(?) p.(Glu21_Glu29del) Unknown - VUS g.73613047_73613070del - - - ALMS1_000450 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.54_55insTAG r.(?) p.(Glu19*) Unknown - likely pathogenic g.73613050_73613051insTAG - - - ALMS1_000634 - - - - Unknown - - - 0 - DNA SEQ-NG-I - - SUD - - - F - Switzerland - 57y - - - 1 Cordula Haas
-/. - c.57_77del r.(?) p.(Glu23_Glu29del) Unknown - benign g.73613053_73613070del - ALMS1(NM_015120.4):c.60_77delGGAGGAGGAGGAGGAGGA (p.E24_E29del) - ALMS1_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.60_61del r.(?) p.(Glu21GlyfsTer106) Unknown - likely benign g.73613053_73613054del - ALMS1(NM_015120.4):c.57_58del (p.(Glu20Glyfs*107)) - ALMS1_000451 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.60_77del r.(?) p.(Glu24_Glu29del) Unknown - benign g.73613056_73613070del - ALMS1(NM_015120.4):c.63_77delGGAGGAGGAGGAGGA (p.E25_E29del) - ALMS1_000289 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.63_77del r.(?) p.(Glu25_Glu29del) Unknown - likely benign g.73613059_73613070del - ALMS1(NM_015120.4):c.66_77delGGAGGAGGAGGA (p.E26_E29del) - ALMS1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.63_77del r.(?) p.(Glu25_Glu29del) Unknown - likely benign g.73613059_73613070del - ALMS1(NM_015120.4):c.66_77delGGAGGAGGAGGA (p.E26_E29del) - ALMS1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.64del r.(?) p.(Glu22ArgfsTer20) Unknown - likely benign g.73613057del - ALMS1(NM_015120.4):c.61del (p.(Glu21Argfs*21)) - ALMS1_000452 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.66_77del r.(?) p.(Glu26_Glu29del) Unknown - benign g.73613062_73613070del - ALMS1(NM_015120.4):c.36_44del (p.(Glu16_Glu18del)), ALMS1(NM_015120.4):c.69_77delGGAGGAGGA (p.E27_E29del) - ALMS1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.66_77del r.(?) p.(Glu26_Glu29del) Unknown - benign g.73613062_73613070del - ALMS1(NM_015120.4):c.36_44del (p.(Glu16_Glu18del)), ALMS1(NM_015120.4):c.69_77delGGAGGAGGA (p.E27_E29del) - ALMS1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.66_77del r.(?) p.(Glu26_Glu29del) Unknown - likely benign g.73613062_73613070del - ALMS1(NM_015120.4):c.36_44del (p.(Glu16_Glu18del)), ALMS1(NM_015120.4):c.69_77delGGAGGAGGA (p.E27_E29del) - ALMS1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66_77del r.(?) p.(Glu26_Glu29del) Unknown - likely benign g.73613062_73613070del - ALMS1(NM_015120.4):c.36_44del (p.(Glu16_Glu18del)), ALMS1(NM_015120.4):c.69_77delGGAGGAGGA (p.E27_E29del) - ALMS1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66_77dup r.(?) p.(Glu26_Glu29dup) Unknown - likely benign g.73613056_73613070dup - ALMS1(NM_015120.4):c.60_74dupGGAGGAGGAGGAGGA (p.E24_E28dup) - ALMS1_000576 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69_77del r.(?) p.(Glu27_Glu29del) Unknown - benign g.73613065_73613070del - ALMS1(NM_015120.4):c.36_41del (p.(Glu28_Glu29del)), ALMS1(NM_015120.4):c.69_74delGGAGGA (p.E27_E28del), ALMS1(NM_015120.4):c.72_77delGGAGGA (p.E28...) - ALMS1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.69_77del r.(?) p.(Glu27_Glu29del) Unknown - benign g.73613065_73613070del - ALMS1(NM_015120.4):c.36_41del (p.(Glu28_Glu29del)), ALMS1(NM_015120.4):c.69_74delGGAGGA (p.E27_E28del), ALMS1(NM_015120.4):c.72_77delGGAGGA (p.E28...) - ALMS1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.69_77del r.(?) p.(Glu27_Glu29del) Unknown - benign g.73613065_73613070del - ALMS1(NM_015120.4):c.36_41del (p.(Glu28_Glu29del)), ALMS1(NM_015120.4):c.69_74delGGAGGA (p.E27_E28del), ALMS1(NM_015120.4):c.72_77delGGAGGA (p.E28...) - ALMS1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.69_77del r.(?) p.(Glu27_Glu29del) Unknown - likely benign g.73613065_73613070del - ALMS1(NM_015120.4):c.36_41del (p.(Glu28_Glu29del)), ALMS1(NM_015120.4):c.69_74delGGAGGA (p.E27_E28del), ALMS1(NM_015120.4):c.72_77delGGAGGA (p.E28...) - ALMS1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.69_77del r.(?) p.(Glu27_Glu29del) Unknown - benign g.73613065_73613070del - ALMS1(NM_015120.4):c.36_41del (p.(Glu28_Glu29del)), ALMS1(NM_015120.4):c.69_74delGGAGGA (p.E27_E28del), ALMS1(NM_015120.4):c.72_77delGGAGGA (p.E28...) - ALMS1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69_77dup r.(?) p.(Glu27_Glu29dup) Unknown - likely benign g.73613059_73613070dup - ALMS1(NM_015120.4):c.66_77dupGGAGGAGGAGGA (p.E26_E29dup) - ALMS1_000642 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71_72insAGAGGA r.(?) p.(Glu28_Glu29dup) Unknown - likely benign g.73613064_73613065insAGAGGA - ALMS1(NM_015120.4):c.68_69insAGAGGA (p.E27_E28dup), ALMS1(NM_015120.4):c.71_72insAGAGGA (p.E28_E29dup) - ALMS1_000454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.71_72insAGAGGA r.(?) p.(Glu28_Glu29dup) Unknown - benign g.73613064_73613065insAGAGGA - ALMS1(NM_015120.4):c.68_69insAGAGGA (p.E27_E28dup), ALMS1(NM_015120.4):c.71_72insAGAGGA (p.E28_E29dup) - ALMS1_000454 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.72_77del r.(?) p.(Glu28_Glu29del) Unknown - benign g.73613068_73613070del - ALMS1(NM_015120.4):c.36_38del (p.(Glu14del)), ALMS1(NM_015120.4):c.72_74delGGA (p.E28del), ALMS1(NM_015120.4):c.75_77delGGA (p.E29del) - ALMS1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.72_77del r.(?) p.(Glu28_Glu29del) Unknown - benign g.73613068_73613070del - ALMS1(NM_015120.4):c.36_38del (p.(Glu14del)), ALMS1(NM_015120.4):c.72_74delGGA (p.E28del), ALMS1(NM_015120.4):c.75_77delGGA (p.E29del) - ALMS1_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.72_77del r.(?) p.(Glu28_Glu29del) Unknown - benign g.73613068_73613070del - ALMS1(NM_015120.4):c.36_38del (p.(Glu14del)), ALMS1(NM_015120.4):c.72_74delGGA (p.E28del), ALMS1(NM_015120.4):c.75_77delGGA (p.E29del) - ALMS1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.72_77del r.(?) p.(Glu28_Glu29del) Unknown - likely benign g.73613068_73613070del - ALMS1(NM_015120.4):c.36_38del (p.(Glu14del)), ALMS1(NM_015120.4):c.72_74delGGA (p.E28del), ALMS1(NM_015120.4):c.75_77delGGA (p.E29del) - ALMS1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.72_77del r.(?) p.(Glu28_Glu29del) Unknown - likely benign g.73613068_73613070del - ALMS1(NM_015120.4):c.36_38del (p.(Glu14del)), ALMS1(NM_015120.4):c.72_74delGGA (p.E28del), ALMS1(NM_015120.4):c.75_77delGGA (p.E29del) - ALMS1_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.72_77del r.(?) p.(Glu28_Glu29del) Unknown - likely benign g.73613068_73613070del - ALMS1(NM_015120.4):c.36_38del (p.(Glu14del)), ALMS1(NM_015120.4):c.72_74delGGA (p.E28del), ALMS1(NM_015120.4):c.75_77delGGA (p.E29del) - ALMS1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72_77dup r.(?) p.(Glu28_Glu29dup) Unknown - likely benign g.73613062_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGAGGA (p.(Leu12_Glu13insGluGluGlu)), ALMS1(NM_015120.4):c.66_74dupGGAGGAGGA (p.E26_E28dup), ALMS1(NM_015120.4):c.6... - ALMS1_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.72_77dup r.(?) p.(Glu28_Glu29dup) Unknown - benign g.73613062_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGAGGA (p.(Leu12_Glu13insGluGluGlu)), ALMS1(NM_015120.4):c.66_74dupGGAGGAGGA (p.E26_E28dup), ALMS1(NM_015120.4):c.6... - ALMS1_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72_77dup r.(?) p.(Glu28_Glu29dup) Unknown - likely benign g.73613062_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGAGGA (p.(Leu12_Glu13insGluGluGlu)), ALMS1(NM_015120.4):c.66_74dupGGAGGAGGA (p.E26_E28dup), ALMS1(NM_015120.4):c.6... - ALMS1_000577 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.75_77dup r.(?) p.(Glu29dup) Unknown - likely benign g.73613065_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGA (p.(Leu12_Glu13insGluGlu)), ALMS1(NM_015120.4):c.69_74dupGGAGGA (p.E27_E28dup), ALMS1(NM_015120.4):c.72_77dupGG... - ALMS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.75_77dup r.(?) p.(Glu29dup) Unknown - benign g.73613065_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGA (p.(Leu12_Glu13insGluGlu)), ALMS1(NM_015120.4):c.69_74dupGGAGGA (p.E27_E28dup), ALMS1(NM_015120.4):c.72_77dupGG... - ALMS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75_77dup r.(?) p.(Glu29dup) Unknown - benign g.73613065_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGA (p.(Leu12_Glu13insGluGlu)), ALMS1(NM_015120.4):c.69_74dupGGAGGA (p.E27_E28dup), ALMS1(NM_015120.4):c.72_77dupGG... - ALMS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.75_77dup r.(?) p.(Glu29dup) Unknown - benign g.73613065_73613070dup - ALMS1(NM_015120.4):c.35_36insGGAGGA (p.(Leu12_Glu13insGluGlu)), ALMS1(NM_015120.4):c.69_74dupGGAGGA (p.E27_E28dup), ALMS1(NM_015120.4):c.72_77dupGG... - ALMS1_000284 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.75_77dup r.(?) p.(Glu28dup) Unknown - VUS g.73613071_73613073dup - 36_44delinsGGAGGAGGAGGA - ALMS1_000284 - - - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES CHTD patient PubMed: Ackerman 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United States - - 0 - - 1 Johan den Dunnen
-?/. - c.78A>G r.(?) p.(Glu26=) Unknown - likely benign g.73613071A>G - ALMS1(NM_015120.4):c.75A>G (p.E25=) - ALMS1_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.78A>G r.(?) p.(Glu26=) Unknown - likely benign g.73613071A>G - ALMS1(NM_015120.4):c.75A>G (p.E25=) - ALMS1_000578 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.103_108dup r.(?) p.(Ala35_Ala36dup) Unknown - likely benign g.73613096_73613101dup - ALMS1(NM_015120.4):c.90_91insGCGGCG (p.(Ala35_Ala36dup)) - ALMS1_000630 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.116A>G r.(?) p.(Asp39Gly) Unknown - likely benign g.73613109A>G - ALMS1(NM_015120.4):c.113A>G (p.D38G) - ALMS1_000455 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124G>C r.(?) p.(Val42Leu) Unknown - VUS g.73613117G>C - ALMS1(NM_015120.4):c.121G>C (p.V41L) - ALMS1_000727 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.129C>A r.(?) p.(Val43=) Unknown - likely benign g.73613122C>A - ALMS1(NM_015120.4):c.126C>A (p.V42=) - ALMS1_000456 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.171C>T r.(?) p.(Ser57=) Unknown - likely benign g.73613164C>T - ALMS1(NM_015120.4):c.168C>T (p.S56=) - ALMS1_000643 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.231C>G r.(?) p.(Ala77=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231C>G r.(?) p.(Ala77=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.281C>T r.(?) p.(Pro94Leu) Unknown - likely benign g.73613274C>T - ALMS1(NM_015120.4):c.278C>T (p.P93L) - ALMS1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.299C>A r.(?) p.(Ser100*) Parent #1 - likely pathogenic g.73613295C>A g.73386167C>A - - ALMS1_000626 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - DNA SEQ - - retinal disease - PubMed: Holtan 2020 1 patient with variant in heterozygous or compound heterozygous form - - Norway - - 0 - - 1 Global Variome, with Curator vacancy
-/. - c.318C>T r.(?) p.(Ser106=) Unknown - benign g.73613311C>T - ALMS1(NM_015120.4):c.318C>T (p.S106=) - ALMS1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. 1 c.323A>G r.(?) p.(Lys108Arg) Unknown - likely benign g.73613319A>G - A323G - ALMS1_000637 - PubMed: Kominami 2019, PubMed: Kominami 2017, Journal: Kominami 2017 - - Germline - - - 0 - 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 0 - - 1 Najlae Akhiyate
+/. - c.324+4066_10381+3639delinsCACTT r.? p.? Paternal (confirmed) - 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 - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR400-03 PubMed: Lindstrand 2016 - F no United States - - 0 - - 1 LOVD
?/. - c.334C>G r.(?) p.(Pro112Ala) Unknown - VUS g.73635756C>G - ALMS1(NM_015120.4):c.331C>G (p.P111A) - ALMS1_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.346C>T r.(?) p.(His116Tyr) Unknown - likely benign g.73635768C>T - ALMS1(NM_015120.4):c.343C>T (p.H115Y) - ALMS1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435G>A r.(?) p.(Arg145=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435G>A r.(?) p.(Arg145=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.453+7C>A r.(=) p.(=) Unknown - benign g.73635882C>A - ALMS1(NM_015120.4):c.453+7C>A - ALMS1_000644 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.454-14dup r.(=) p.(=) Unknown - benign g.73646237dup - ALMS1(NM_015120.4):c.454-17_454-16insT - ALMS1_000645 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.567del r.(?) p.(Ser190LeufsTer7) Unknown - pathogenic g.73646364del g.73419236del - - ALMS1_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.594A>C r.(?) p.(Gln198His) Unknown - likely benign g.73646391A>C - ALMS1(NM_015120.4):c.591A>C (p.Q197H) - ALMS1_000579 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604C>G r.(?) p.(Gln202Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.604C>G r.(?) p.(Gln202Glu) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.620A>T r.(?) p.(Asn207Ile) Unknown - VUS g.73646417A>T - ALMS1(NM_015120.4):c.617A>T (p.N206I) - ALMS1_000728 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.649+8C>G r.(=) p.(=) Unknown - benign g.73646454C>G - ALMS1(NM_015120.4):c.649+8C>G - ALMS1_000646 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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