Full data view for gene CAV3

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_033337.2 transcript reference sequence.

61 entries on 1 page. Showing entries 1 - 61.
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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     
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 de novo, in patient PubMed: Herrmann, OMIM:var0005 - - De novo - - BclI+ - - DNA SSCA - - LGMD - PubMed: Herrmann, OMIM:var0005 - F - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, PubMed: Kubisch 2003, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >37y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 - PubMed: Betz 2001, PubMed: Kubisch 2003, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Torbergsen - M - Norway - >20y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Fulizio, OMIM:var0005 - - Germline - - - - - DNA SEQ - - hCK - PubMed: Fulizio, OMIM:var0005 4 affecteds M - Italy - - - - - 4 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Fulizio, OMIM:var0005 - - Germline - - - - - DNA SEQ - - ? - PubMed: Fulizio, OMIM:var0005 2 affecteds F - Italy - - - - - 2 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Fulizio, OMIM:var0005 - - Germline - - - - - DNA SEQ - - ? - PubMed: Fulizio, OMIM:var0005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Fulizio, OMIM:var0005 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Fulizio, OMIM:var0005 - M - Italy - - - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - - - - Germline - - BclI+ - - DNA SEQ - - LGMD - - 2 affected brothers - - United Kingdom (Great Britain) - - - - - 2 Ottie O'Brien
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - - - - Germline - - - - - DNA SEQ - - RMD2 - - affected daugther M - Germany - >46y - - - 2 Lab Müller-Reible
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 member family 14663034-II; autosomal dominant inheritance M - Italy - >25y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Guglieri 2007 - - Germline - - - - - DNA SEQ - - LGMD - PubMed: Guglieri 2008 member family 14663034-II; autosomal dominant inheritance F - Italy - ? - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 control chromosomes PubMed: Herrmann, OMIM:var0005 - - Germline - 0/200 BclI+ - - DNA SSCA - - Healthy/Control - PubMed: Herrmann, OMIM:var0005 - - - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >81y - - - 5 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Aboumousa 2008 - - Germline - - BclI+ - - DNA SEQ - - ? - PubMed: Aboumousa 2008 mother of 18583131.F6/F7 F - United Kingdom (Great Britain) - >56y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Maternal (confirmed) - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Aboumousa 2008 - - Germline - - BclI+ - - DNA SEQ - - RMD2 - PubMed: Aboumousa 2008 relative of 18583131.F5/F7 M - United Kingdom (Great Britain) - >25y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Maternal (confirmed) - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Aboumousa 2008 - - Germline - - BclI+ - - DNA SEQ - - RMD2 - PubMed: Aboumousa 2008 relative of 18583131.F5/F6 F - United Kingdom (Great Britain) - >23y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Aboumousa 2008 - - Germline - - BclI+ - - DNA SEQ - - ? - PubMed: Aboumousa 2008 - F - United Kingdom (Great Britain) - >15y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >50y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >25y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >23y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >20y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >19y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >55y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >32y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >32y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >34y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >32y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >26y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >15y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >47y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >15y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >45y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >18y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >67y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >53y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >1y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >28y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds F - Sweden - >25y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Sundblom 2010 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Sundblom 2010 4-generation family, 22 affecteds M - Sweden - >64y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >59y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >61y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >54y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >58y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >44y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >29y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >39y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >36y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >24y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >25y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >19y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds M - Germany - >14y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A 133G>A (A45T) - CAV3_000005 not in 400 control chromosomes PubMed: Betz 2001, OMIM:var0005 - - Germline - - - - - DNA SEQ - - RMD2 - PubMed: Vorgerd 1999 5-generation family, 19 affecteds F - Germany - >10y - - - 1 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic (dominant) g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam4Pat1/2 PubMed: Magri 2015 family, 2 affected (F, M) M - Italy - - - - - 2 Johan den Dunnen
+/. 2 c.136G>A r.(?) p.(Ala46Thr) Parent #1 - pathogenic (dominant) g.8787233G>A g.8745547G>A - - CAV3_000005 - PubMed: Magri 2015 - - Germline - - - - - DNA SEQ - - LGMD Fam8Pat1/2/3 PubMed: Magri 2015 family, 2 affected (2F, M) F;M - Italy - - - - - 3 Johan den Dunnen
+?/. - c.136G>A r.(?) p.(Ala46Thr) Unknown - likely pathogenic g.8787233G>A g.8745547G>A - - CAV3_000005 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Ala46Thr) Unknown - pathogenic (dominant) g.8787233G>A - g.11748G>A - CAV3_000005 - PubMed: Saat 2021 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - RMD2;LGMD1C Pat11 PubMed: Saat 2021 - M no Turkey - - - - - 1 Ibrahim Sahin
+/. - c.136G>A r.(?) p.(Ala46Thr) Parent #1 ACMG pathogenic (dominant) g.8787233G>A g.8745547G>A - - CAV3_000005 ACMG PM1 PM2 PP3 PM5 PP5 PubMed: Cavdarli 2023 - rs116840789 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D14 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Ala46Thr) Parent #1 ACMG pathogenic (dominant) g.8787233G>A g.8745547G>A - - CAV3_000005 ACMG PM2 PM5 PP2 PP3 PP5/S PubMed: Cavdarli 2023 - rs116840789 Germline - - - - - DNA SEQ, SEQ-NG - gene panel NMD D49 PubMed: Cavdarli 2023 analysis 146 neuromuscular disease patients F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Ala46Thr) Unknown ACMG pathogenic (dominant) g.8787233G>A g.8745547G>A - - CAV3_000005 ACMG PM1 PM2 PP3 PM5 PP5 PubMed: Cavdarli 2023 - rs116840789 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D14 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) F - Turkey - - - - - 1 Johan den Dunnen
+/. - c.136G>A r.(?) p.(Ala46Thr) Unknown ACMG pathogenic (dominant) g.8787233G>A g.8745547G>A - - CAV3_000005 ACMG PM2 PM5 PP2 PP3 PP5/S PubMed: Cavdarli 2023 - rs116840789 Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 47-gene panel MD D49 PubMed: Cavdarli 2023 analysis 67 patients muscular dystrophy/myopathy (not DMD) F - Turkey - - - - - 1 Johan den Dunnen
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