Full data view for gene ANO5

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_213599.2 transcript reference sequence.

982 entries on 10 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     
+/. _1_22_ c.-317_*3602{0} r.0 p.0 Parent #2 - pathogenic (recessive) g.(?_22044899)_(22462949_?)del - minmal 22044899-22462949del - ANO5_000269 418 kb deletion involving ANO5 PubMed: Liewluck 2013 - - Germline - - - 0 - DNA SEQ - - MYOP Pat3 PubMed: Liewluck 2013 - M - United States - - 0 - - 1 Johan den Dunnen
+?/. _1_7i c.-317_(648+1_649-1)del r.0? p.0? Both (homozygous) - pathogenic (recessive) g.(?_22214722)_(22249133_22257708)del g.(?_22193176)_(22227587_22236162)del del ex1-7 - ANO5_000267 - PubMed: Vazquez 2020 - - Germline - - - 0 - DNA SEQ - - MYOP Pat4 PubMed: Vazquez 2020 - M - France - - 0 - - 1 Johan den Dunnen
?/. 1 c.-162A>G r.(?) p.(=) Unknown - VUS g.22214877A>G g.22193331A>G - - ANO5_000027 - - - rs61879341 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-136G>C r.(?) p.(=) Unknown - VUS g.22214903G>C g.22193357G>C - - ANO5_000026 - - - rs12792259 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-136G>C r.(?) p.(=) Unknown - benign g.22214903G>C g.22193357G>C - - ANO5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9C>G r.(?) p.(Asp3Glu) Unknown - likely benign g.22215047C>G - ANO5(NM_213599.2):c.9C>G (p.D3E) - ANO5_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1 c.11C>G r.(?) p.(Pro4Arg) Parent #1 - VUS g.22215049C>G g.22193503C>G - - ANO5_000131 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1 c.13del r.(?) p.(Asp5Ilefs*17) Parent #1 - pathogenic g.22215051del g.22193505del - - ANO5_000072 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD - - - M - Canada - - 0 - - 1 Tom Winder
-?/. - c.41-15_41-12del r.(=) p.(=) Unknown - likely benign g.22225335_22225338del g.22203789_22203792del ANO5(NM_213599.2):c.41-15_41-12delTCTT - ANO5_000250 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1i c.41-1G>A r.spl p.? Parent #1 - likely pathogenic g.22225349G>A g.22203803G>A - - ANO5_000044 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - Canada - - 0 - - 1 Tom Winder
?/. 1i c.41-1G>A r.spl p.? Unknown - VUS g.22225349G>A g.22203803G>A - - ANO5_000044 from website {DBsub-Emory} - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.41-1G>A r.spl p.? Parent #1 - pathogenic g.22225349G>A g.22203803G>A - - ANO5_000044 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 1i c.41-1G>A r.spl p.? Parent #1 - pathogenic g.22225349G>A g.22203803G>A - - ANO5_000044 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.41-1G>A r.spl p.? Parent #1 - pathogenic (recessive) g.22225349G>A g.22203803G>A - - ANO5_000044 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+?/. - c.69C>A r.(?) p.(Tyr23*) Unknown - likely pathogenic g.22225378C>A g.22203832C>A - - ANO5_000279 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 1 Johan den Dunnen
+/. - c.87G>A r.spl p.? Parent #1 - pathogenic (recessive) g.22225396G>A g.22203850G>A - - ANO5_000271 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 3 c.108_109del r.(?) p.(Glu36Aspfs*7) Parent #1 - pathogenic g.22232830_22232831del g.22211284_22211285del 108_109delGA - ANO5_000132 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.129A>G r.(?) p.(Glu43=) Unknown - likely benign g.22232851A>G g.22211305A>G ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.129A>G r.(?) p.(Glu43=) Unknown - likely benign g.22232851A>G g.22211305A>G ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.130G>A r.(?) p.(Glu44Lys) Parent #1 - VUS g.22232852G>A g.22211306G>A - - ANO5_000133 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.138+9C>T r.(=) p.(=) Unknown - likely benign g.22232869C>T - ANO5(NM_213599.2):c.138+9C>T - ANO5_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3i c.138+169G>A r.(=) p.(=) Unknown - VUS g.22233029G>A g.22211483G>A - - ANO5_000009 - - - rs4922980 Germline - 0.31-0.88 - 0 - - - - - - - - - - - - - - - - - - -
?/. 3i c.138+206T>C r.(=) p.(=) Unknown - VUS g.22233066T>C g.22211520T>C - - ANO5_000010 - - - rs4922981 Germline - 0.19-0.90 - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.139-1del r.spl p.? Parent #1 - pathogenic g.22239791del g.22218245del - - ANO5_000134 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 3i c.139-1del r.spl p.? Parent #1 - pathogenic g.22239791del g.22218245del 139-1delG - ANO5_000134 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 4 c.139C>T r.(?) p.(Pro47Ser) Parent #1 - VUS g.22239792C>T g.22218246C>T - - ANO5_000135 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 4 c.139C>T r.(?) p.(Pro47Ser) Parent #1 - VUS g.22239792C>T g.22218246C>T - - ANO5_000135 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.148C>T r.(?) p.(Arg50*) Parent #1 - pathogenic g.22239801C>T g.22218255C>T - - ANO5_000052 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - United States - - 0 - - 1 Tom Winder
+/. 4 c.148C>T r.(?) p.(Arg50*) Parent #2 - pathogenic g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - MPD - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50*) Paternal (confirmed) - pathogenic (recessive) g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Yu 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - candidate 420-gene panel LGMD P170 PubMed: Yu 2017 analysis 180 LGMD patients M - China - - 0 - - 1 Johan den Dunnen
+/. - c.148C>T r.(?) p.(Arg50*) Parent #1 - pathogenic (recessive) g.22239801C>T g.22218255C>T - - ANO5_000052 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
?/. 4 c.149G>A r.(?) p.(Arg50Gln) Parent #1 - VUS g.22239802G>A g.22218256G>A - - ANO5_000136 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Sarkozy 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Sarkozy 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #2 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #2 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #2 - pathogenic g.22239808A>G g.22218262A>G N52K - ANO5_000048 - PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - F - France - - 0 - - 1 Johan den Dunnen
-?/. - c.155A>G r.(?) p.(Asn52Ser) Unknown - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.155A>G r.(?) p.(Asn52Ser) Parent #1 - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-?/. - c.155A>G r.(?) p.(Asn52Ser) Unknown - likely benign g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155A>G r.(?) p.(Asn52Ser) Unknown - VUS g.22239808A>G g.22218262A>G ANO5(NM_213599.2):c.155A>G (p.N52S, p.(Asn52Ser)) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155A>G r.(?) p.(Asn52Ser) Parent #1 - VUS g.22239808A>G g.22218262A>G - - ANO5_000048 conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs143777403 Germline - 6/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 6 Mohammed Faruq
+/. - c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. - c.155A>G r.(?) p.(Asn52Ser) Parent #1 - pathogenic (recessive) g.22239808A>G g.22218262A>G - - ANO5_000048 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. - c.169C>T r.(?) p.(Arg57Trp) Parent #1 - pathogenic (recessive) g.22239822C>T g.22218276C>T - - ANO5_000272 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+/. 4 c.169C>T r.(?) p.(Arg57Trp) Both (homozygous) - pathogenic (recessive) g.22239822C>T - g.48361T>C - ANO5_000272 - PubMed: Saat 2021 - - Germline - - - 0 - DNA SEQ-NG - - LGMD-2L Pat1 PubMed: Saat 2021 - F yes Turkey - - 0 - - 1 Ibrahim Sahin
?/. 4 c.170G>A r.(?) p.(Arg57Gln) Parent #1 - VUS g.22239823G>A g.22218277G>A - - ANO5_000137 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. - c.170G>A r.(?) p.(Arg57Gln) Unknown - VUS g.22239823G>A g.22218277G>A ANO5(NM_213599.2):c.170G>A (p.R57Q) - ANO5_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Paternal (inferred) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - - - United States - - 0 - - 1 Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Paternal (inferred) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - United States Hispanic - 0 - - 1 Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Witting 2012 2-generation family, unaffected carrier parent and brother ? - Denmark - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+?/. 4 c.172C>T r.(?) p.(Arg58Trp) Both (homozygous) - pathogenic (recessive) g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Punetha 2016 - - Germline - - - 0 - DNA SEQ-NG-I - - LGMD Pat9 PubMed: Punetha 2016 - M yes ? (unknown) - - 0 - - 1 Jaya Punetha
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Witting 2012 2-generation family, affected male M - Denmark - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Witting 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Witting 2012 2-generation family, affected sister F - Denmark - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 not in 408 control chromosomes PubMed: Wahbi 2012 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Wahbi 2012 - M - France - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Schessl 2012 - - Germline - - - 0 - DNA SEQ - - hCK - PubMed: Schessl 2012 - M - Germany - - 0 - - 1 Johan den Dunnen
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #2 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - United States - - 0 - - 1 Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Maternal (inferred) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - - - United States - - 0 - - 1 Tom Winder
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Maternal (inferred) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - United States Hispanic - 0 - - 1 Tom Winder
+?/. - c.172C>T r.(?) p.(Arg58Trp) Unknown - likely pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 consistent with diagnosis muscular dystrophy PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 4 c.172C>T r.(?) p.(Arg58Trp) Both (homozygous) - VUS g.22239825C>T g.22218279C>T - - ANO5_000039 variant apparently homozygous; no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Parent #1 - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 4 c.172C>T r.(?) p.(Arg58Trp) Both (homozygous) - pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 variant apparently homozygous PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. - c.172C>T r.(?) p.(Arg58Trp) Both (homozygous) ACMG pathogenic g.22239825C>T g.22218279C>T NM_001142649:c.169C>T - ANO5_000039 ACMG PP1-S, PM2, PM3, PP1-M, PP1, PP2, PP3, PP4 PubMed: Monies 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 759-gene panel neurological disorders LGMD Fam41 / 12R-00001 PubMed: Monies 2016 759-gene panel analysis 50 patients suspected of LGMD - - Saudi Arabia - - 0 - - 1 Johan den Dunnen
+?/. - c.172C>T r.(?) p.(Arg58Trp) Both (homozygous) - likely pathogenic (recessive) g.22239825C>T g.22218279C>T - - ANO5_000039 - PubMed: Vazquez 2020 - - Germline - - - 0 - DNA SEQ - - MYOP Pat5 PubMed: Vazquez 2020 - M - Mexico - - 0 - - 1 Johan den Dunnen
+?/. - c.172C>T r.(?) p.(Arg58Trp) Unknown - likely pathogenic g.22239825C>T g.22218279C>T - - ANO5_000039 combination of variants not reported PubMed: Topf 2020 - - Germline - 3/1001 cases - 0 - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - 3 Johan den Dunnen
+/. - c.173G>A r.(?) p.(Arg58Gln) Parent #1 - pathogenic (recessive) g.22239826G>A g.22218280G>A - - ANO5_000228 - PubMed: Ten Dam 2019 - - Germline - - - 0 - DNA SEQ - - LGMD ? PubMed: Ten Dam 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
+?/. - c.180+2T>C r.spl p.? Both (homozygous) - likely pathogenic (recessive) g.22239835T>C g.22218289T>C - - ANO5_000249 - PubMed: Izumi 2015, Izumi 2020 (submitted) - - Germline - - - 0 - DNA SEQ, SEQ-NG - 42 gene panel MD Dys201-1 PubMed: Izumi 2015 - M - Japan - - 0 - - 1 Johan den Dunnen
-/. - c.180+21T>C r.(=) p.(=) Unknown - benign g.22239854T>C g.22218308T>C ANO5(NM_213599.2):c.180+21T>C - ANO5_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4i c.180+223G>A r.(=) p.(=) Unknown - VUS g.22240056G>A g.22218510G>A - - ANO5_000008 - - - rs4620717 Germline - 0.02-0.47 - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.185A>G r.(?) p.(Gln62Arg) Parent #1 - VUS g.22242647A>G g.22221101A>G - - ANO5_000138 no second variant PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - LGMD-2L - PubMed: Bolduc 2010 - F - Canada French Canadian >64y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (confirmed) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >72y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (confirmed) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >67y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Paternal (confirmed) - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 not in 362 control chromosomes PubMed: Bolduc 2010, OMIM:var0004 - - Germline - - - 0 - DNA SEQ - - dystrophy, muscular, Miyoshi, type 3 - PubMed: Linssen 1998 family 3 affected brothers M - Netherlands - >53y 0 - - 1 Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Unknown - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 1/100 - 0 - DNA SEQ - - Healthy/Control - PubMed: Bolduc 2010 - - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
?/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Unknown - VUS g.22242653dup g.22221107dup - - ANO5_000004 - PubMed: Bolduc 2010, OMIM:var0004 - - Germline - 2/210 - 0 - DNA SEQ - - Healthy/Control - PubMed: Bolduc 2010 - - - Netherlands - - 0 - - 2 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 - - - - Germline - - - 0 - DNA PCR, SEQ - - dystrophy, muscular, Miyoshi, type 3 - - - M - United States - - 0 - - 1 Tom Winder
+/. 5 c.191dup r.191dup p.Asn64Lysfs*15 Parent #2 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 nonsense mediated mRNA decay Bolduc ASHG2011 A114 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ - - LGMD - Bolduc ASHG2011 A114 - - - - - - 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >61y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - - 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - 68y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >50y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >45y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >68y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >37y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected brothers M - United Kingdom (Great Britain) - >43y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >61y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >54y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 2-generation family, 2 affected sisters F - United Kingdom (Great Britain) - >57y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >56y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >47y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Hicks 2011 - M - United Kingdom (Great Britain) - >55y 0 - - 1 Johan den Dunnen
+/. 5 c.191dup r.(?) p.(Asn64Lysfs*15) Parent #1 - pathogenic g.22242653dup g.22221107dup - - ANO5_000004 shared ahplotype, incl. CYHR1:c.247-3671A>G {dbSNP7481951} PubMed: Hicks 2011 - - Germline - - - 0 - DNA SEQ - - LGMD - PubMed: Sarkozy 2012 - M - United Kingdom (Great Britain) - >40y 0 - - 1 Johan den Dunnen
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