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.

773 entries on 8 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 1 c.-162A>G - r.(?) p.(=) Unknown g.22214877A>G g.22193331A>G - - ANO5_000027 - - - rs61879341 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 1 c.-136G>C - r.(?) p.(=) Unknown g.22214903G>C g.22193357G>C - - ANO5_000026 - - - rs12792259 Germline - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.-136G>C benign r.(?) p.(=) Unknown g.22214903G>C - ANO5(NM_213599.2):c.-136G>C (p.?) - ANO5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 13 c.(1202G>Aˆ1203G>A) - r.(?) p.(Trp401*) Parent #2 g.(22276938G>Aˆ22276939G>A) - W401X - ANO5_000076 - Fichna ESHG2016 P10.20 - - Germline yes 1/82 cases LGMD - 0 - DNA SEQ, SEQ-NG - - LGMD - Fichna ESHG2016 P10.20 3-generation family, 2 affecteds (2M) M no Poland - - 0 - - 2 Johan den Dunnen
?/. 1 c.11C>G VUS r.(?) p.(Pro4Arg) Parent #1 g.22215049C>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.13delG - r.(?) p.(Asp5Ilefs*17) Parent #1 g.22215051delG g.22193505delG - - ANO5_000072 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD - - - M - Canada - - 0 - - 1 Tom Winder
+?/. 1i c.41-1G>A - r.spl p.? Parent #1 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 g.22225349G>A g.22203803G>A - - ANO5_000044 from website {DBsub-Emory} - - - Germline - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 1i c.41-1G>A pathogenic r.spl p.? Parent #1 g.22225349G>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 pathogenic r.spl p.? Parent #1 g.22225349G>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
+/. 3 c.108_109del pathogenic r.(?) p.(Glu36Aspfs*7) Parent #1 g.22232830_22232831del - 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 likely benign r.(?) p.(=) Unknown g.22232851A>G - ANO5(NM_213599.2):c.129A>G (p.E43=) - ANO5_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.130G>A VUS r.(?) p.(Glu44Lys) Parent #1 g.22232852G>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
?/. 3i c.138+169G>A - r.(=) p.(=) Unknown g.22233029G>A g.22211483G>A - - ANO5_000009 - - - rs4922980 Germline - 0.31-0.88 - 0 - - - - - - - - - - - - - - - - - - -
?/. 3i c.138+206T>C - r.(=) p.(=) Unknown g.22233066T>C g.22211520T>C - - ANO5_000010 - - - rs4922981 Germline - 0.19-0.90 - 0 - - - - - - - - - - - - - - - - - - -
+/. 3i c.139-1del pathogenic r.spl p.? Parent #1 g.22239791del - - - 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 pathogenic r.spl p.? Parent #1 g.22239791del - 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 VUS r.(?) p.(Pro47Ser) Parent #1 g.22239792C>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 VUS r.(?) p.(Pro47Ser) Parent #1 g.22239792C>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 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 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
?/. 4 c.149G>A VUS r.(?) p.(Arg50Gln) Parent #1 g.22239802G>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 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 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 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 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 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 likely benign r.(?) p.(Asn52Ser) Unknown g.22239808A>G - ANO5(NM_213599.2):c.155A>G (p.N52S) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.155A>G VUS r.(?) p.(Asn52Ser) Parent #1 g.22239808A>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 likely benign r.(?) p.(Asn52Ser) Unknown g.22239808A>G - ANO5(NM_213599.2):c.155A>G (p.N52S) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.155A>G VUS r.(?) p.(Asn52Ser) Unknown g.22239808A>G - ANO5(NM_213599.2):c.155A>G (p.N52S) - ANO5_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.170G>A VUS r.(?) p.(Arg57Gln) Parent #1 g.22239823G>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
+/. 4 c.172C>T - r.(?) p.(Arg58Trp) Paternal (inferred) 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) g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA PCR, SEQ - - LGMD-2L - - - M - United States Hispanic - 0 - - 1 Tom Winder
+/. 4i c.172C>T - r.(?) p.(Arg58Trp) Parent #1 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 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) Paternal (inferred) g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA SEQ-NG-I - - LGMD - - - M yes ? (unknown) - - 0 - - 1 Jaya Punetha
+/. 4i c.172C>T - r.(?) p.(Arg58Trp) Parent #2 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
+/. 4i c.172C>T - r.(?) p.(Arg58Trp) Parent #2 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 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 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 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 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 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) 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) 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) Maternal (inferred) g.22239825C>T g.22218279C>T - - ANO5_000039 - - - - Germline - - - 0 - DNA SEQ-NG-I - - LGMD - - - M yes ? (unknown) - - 0 - - 1 Jaya Punetha
+?/. - c.172C>T likely pathogenic r.(?) p.(Arg58Trp) Unknown g.22239825C>T - ANO5(NM_213599.2):c.172C>T (p.Arg58Trp) - ANO5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 4 c.172C>T pathogenic r.(?) p.(Arg58Trp) Parent #1 g.22239825C>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 pathogenic r.(?) p.(Arg58Trp) Parent #1 g.22239825C>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 pathogenic r.(?) p.(Arg58Trp) Parent #1 g.22239825C>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 VUS r.(?) p.(Arg58Trp) Both (homozygous) g.22239825C>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 pathogenic r.(?) p.(Arg58Trp) Parent #1 g.22239825C>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 pathogenic r.(?) p.(Arg58Trp) Parent #1 g.22239825C>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 pathogenic r.(?) p.(Arg58Trp) Both (homozygous) g.22239825C>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.173G>A pathogenic (recessive) r.(?) p.(Arg58Gln) Parent #1 g.22239826G>A - - - ANO5_000228 - ten Dam, submitted 2019 - - Germline - - - 0 - DNA SEQ - - LGMD ? ten Dam, submitted 2019 - M - Netherlands - - 0 - - 1 Ieke Ginjaar
-/. - c.180+21T>C benign r.(=) p.(=) Unknown g.22239854T>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 g.22240056G>A g.22218510G>A - - ANO5_000008 - - - rs4620717 Germline - 0.02-0.47 - 0 - - - - - - - - - - - - - - - - - - -
?/. 5 c.185A>G VUS r.(?) p.(Gln62Arg) Parent #1 g.22242647A>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
+/. - c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Unknown g.22242653dup - ANO5(NM_001142649.1):c.181_182insA (p.(Asn63LysfsTer15), p.(Asn64LysfsTer15)), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(NM_213599.2):c.192de... - ANO5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Unknown g.22242653dup - ANO5(NM_001142649.1):c.181_182insA (p.(Asn63LysfsTer15), p.(Asn64LysfsTer15)), ANO5(NM_213599.2):c.191dupA (p.N64Kfs*15), ANO5(NM_213599.2):c.192de... - ANO5_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Unknown g.22242653dup - ANO5:NM_213599.2:c.191dup (Asn64fs) - ANO5_000084 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 variant apparently homozygous; consistent with diagnosis LGMD 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Both (homozygous) g.22242653dup - 191dupA - ANO5_000084 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
+/. 5 c.191dup pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - 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 pathogenic r.(?) p.(Asn64Lysfs*15) Parent #1 g.22242653dup - 191dupA - ANO5_000084 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
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