Full data view for gene SYNE1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_182961.3 transcript reference sequence.

1837 entries on 19 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »

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     
?/. 6 c.? r.? p.? Parent #1 - VUS g.? - 758A>G (N253S) - LAMA2_000000 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
?/. 104 c.? r.? p.? Parent #1 - VUS g.? - 1929A>G (N6432S) - LAMA2_000000 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
?/. 77 c.? r.? p.? Parent #1 - VUS g.? - 1376C>A (F4592L) - LAMA2_000000 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 127 c.? r.? p.? Parent #1 - VUS g.? - 2304G>A (V7683I) - LAMA2_000000 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 140 c.? r.? p.? Parent #1 - VUS g.? - 2519G>A (D8400N) - LAMA2_000000 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 134 c.? r.? p.? Parent #1 - VUS g.? - 243136C>T (R8046W) - LAMA2_000000 - 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.-529C>T r.(?) p.(=) Unknown - benign g.152958461G>A g.152637326G>A - - SYNE1_000322 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 5' UTR c.-9G>T r.(?) p.(=) Parent #1 - VUS g.152949475C>A g.152628340C>A - - SYNE1_000853 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
-/. 129i c.(23301+1_23302-1)C>T r.(?) p.(=) Parent #1 - benign g.(152501430_152510386)G>A - g.471967G>A - SYNE1_000043 - PubMed: Gros-Louis 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - 1 Johan den Dunnen
-/. 136i c.(24642+1_24643-1)C>T r.(?) p.(=) Parent #1 - benign g.(152469514_152470611)G>A - g.482601C>T - SYNE1_000044 - PubMed: Gros-Louis 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - 1 Johan den Dunnen
?/. 2 c.23C>T r.(?) p.(Ser8Phe) Parent #1 - VUS g.152949444G>A g.152628309G>A - - SYNE1_000852 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.23C>T r.(?) p.(Ser8Phe) Parent #1 - VUS g.152949444G>A g.152628309G>A - - SYNE1_000852 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 2 c.23C>T r.(?) p.(Ser8Phe) Parent #1 - VUS g.152949444G>A g.152628309G>A - - SYNE1_000852 - 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.25C>T r.(?) p.(Arg9Trp) Unknown - VUS g.152949442G>A g.152628307G>A SYNE1(NM_182961.3):c.25C>T (p.R9W) - SYNE1_001015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38del r.(?) p.(Asp13Valfs*5) Unknown - pathogenic g.152949429del g.152628294del - - SYNE1_000033 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
?/. 3 c.68A>G r.(?) p.(Asp23Gly) Parent #1 - VUS g.152861156T>C g.152540021T>C - - SYNE1_000851 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.93A>G r.(?) p.(Arg31=) Unknown - likely benign g.152861131T>C g.152539996T>C - - SYNE1_001074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.116C>G r.(?) p.(Ser39Cys) Parent #1 - VUS g.152861108G>C g.152539973G>C - - SYNE1_000850 - 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.118C>T r.(?) p.(His40Tyr) Unknown - VUS g.152861106G>A g.152539971G>A SYNE1(NM_182961.3):c.118C>T (p.H40Y) - SYNE1_000299 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.118C>T r.(?) p.(His40Tyr) Parent #1 - VUS g.152861106G>A g.152539971G>A - - SYNE1_000299 - 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.148G>T r.(?) p.(Val50Leu) Unknown - VUS g.152847292C>A - SYNE1(NM_182961.3):c.148G>T (p.V50L) - SYNE1_001106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156T>C r.(?) p.(Asp52=) Unknown - likely benign g.152847284A>G g.152526149A>G SYNE1(NM_182961.3):c.156T>C (p.D52=) - SYNE1_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156T>C r.(?) p.(Asp52=) Unknown - benign g.152847284A>G g.152526149A>G SYNE1(NM_182961.3):c.156T>C (p.D52=) - SYNE1_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.156T>C r.(?) p.(Asp52=) Unknown - benign g.152847284A>G g.152526149A>G SYNE1(NM_182961.3):c.156T>C (p.D52=) - SYNE1_001014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216G>A r.(?) p.(Gly72=) Unknown - likely benign g.152847224C>T g.152526089C>T SYNE1(NM_182961.3):c.216G>A (p.G72=) - SYNE1_001013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226-2dup r.spl? p.? Unknown - VUS g.152841679dup g.152520544dup SYNE1(NM_182961.3):c.226-2dupA, SYNE1(NM_182961.3):c.226-3_226-2insA - SYNE1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4i c.226-2dup r.spl? p.? Parent #1 - VUS g.152841679dup g.152520544dup 226-2dupA - SYNE1_000298 - 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.226-2dup r.spl? p.? Unknown - pathogenic g.152841679dup g.152520544dup SYNE1(NM_182961.3):c.226-2dupA, SYNE1(NM_182961.3):c.226-3_226-2insA - SYNE1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.245G>T r.(?) p.(Arg82Leu) Parent #1 - VUS g.152841658C>A g.152520523C>A - - SYNE1_000849 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.245G>T r.(?) p.(Arg82Leu) Parent #1 - VUS g.152841658C>A g.152520523C>A - - SYNE1_000849 - 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.253C>T r.(?) p.(Arg85Ter) Unknown - pathogenic g.152841650G>A g.152520515G>A SYNE1(NM_182961.3):c.253C>T (p.R85*) - SYNE1_001012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.290A>G r.(?) p.(Lys97Arg) Parent #1 - VUS g.152841613T>C g.152520478T>C - - SYNE1_000848 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
+/. 6i c.309+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.152841593C>T g.152520458C>T NM_033071.3:c.309+1G>A - SYNE1_000903 - PubMed: Synofzik 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR Fam2Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany - - 0 - - 1 Johan den Dunnen
-?/. - c.309+9_309+10del r.(=) p.(=) Unknown - likely benign g.152841589_152841590del g.152520454_152520455del SYNE1(NM_182961.3):c.309+9_309+10delGA - SYNE1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 6 c.310-469C>T r.(?) p.(=) Parent #1 - VUS g.152832707G>A g.152511572G>A - - SYNE1_000847 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.310-468G>A r.(=) p.(=) Unknown - likely benign g.152832706C>T g.152511571C>T SYNE1(NM_033071.3):c.330G>A (p.(=)) - SYNE1_001011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.323A>G r.(?) p.(Asn108Ser) Maternal (confirmed) - pathogenic (dominant) g.152832225T>C g.152511090T>C 323C>T (N108S) - SYNE1_000861 - PubMed: Fanin 2015 - - Germline yes - - 0 - DNA SEQ - - MD Family PubMed: Fanin 2015 2-generation family, affected mother/2 sons F;M - Italy - - 0 - - 3 Johan den Dunnen
?/. 7 c.334A>T r.(?) p.(Thr112Ser) Parent #1 - VUS g.152832214T>A g.152511079T>A - - SYNE1_000846 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
?/. 7 c.337G>A r.(?) p.(Asp113Asn) Parent #1 - VUS g.152832211C>T g.152511076C>T - - SYNE1_000845 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
?/. 7 c.338A>G r.(?) p.(Asp113Gly) Parent #1 - VUS g.152832210T>C g.152511075T>C - - SYNE1_000844 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 7 c.340A>G r.(?) p.(Ile114Val) Parent #1 - VUS g.152832208T>C g.152511073T>C - - SYNE1_000843 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.352C>T r.(?) p.(Arg118*) Parent #1 - pathogenic (recessive) g.152832196G>A g.152511061G>A NM_033071.3:c.810C>CT (R125X) - SYNE1_000862 - PubMed: Noreau 2013 - - Germline yes - - 0 - DNA SEQ - - SCAR FamilyA PubMed: Noreau 2013 2-generation family, affected brothers/sister, unaffected heterozygous carrier parents F;M - Canada French Canadian - 0 - - 3 Johan den Dunnen
+/. - c.352C>T r.(?) p.(Arg118Ter) Unknown - pathogenic g.152832196G>A g.152511061G>A - - SYNE1_000862 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7 c.374T>A r.0 p.0 Parent #2 - pathogenic (recessive) g.152832174A>T g.152511039A>T NM_033071.3:c.395T>A - SYNE1_000860 - PubMed: Synofzik 2016 - - Germline - - - 0 - DNA, RNA RT-PCR, SEQ, SEQ-NG - - SCAR Fam6Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Italy - - 0 - - 1 Johan den Dunnen
?/. - c.379T>A r.(?) p.(Trp127Arg) Unknown - VUS g.152832169A>T g.152511034A>T SYNE1(NM_182961.3):c.379T>A (p.W127R) - SYNE1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 7 c.395A>G r.(?) p.(Tyr132Cys) Parent #1 - VUS g.152832153T>C g.152511018T>C - - SYNE1_000842 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.402+11A>G r.(=) p.(=) Unknown - benign g.152832135T>C g.152511000T>C SYNE1(NM_182961.3):c.402+11A>G - SYNE1_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 8 c.495C>A r.(?) p.(Ser165Arg) Parent #1 - VUS g.152831414G>T g.152510279G>T - - SYNE1_000841 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
?/. 8 c.508C>T r.(?) p.(Arg170Trp) Parent #1 - VUS g.152831401G>A g.152510266G>A - - SYNE1_000840 - 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.532G>C r.(?) p.(Gly178Arg) Both (homozygous) - likely pathogenic (recessive) g.152831377C>G g.152510242C>G G553C - SYNE1_000867 - PubMed: Izumi 2013 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR Pat1 PubMed: Izumi 2013 - F yes Japan - 44y 0 - - 1 Johan den Dunnen
?/. - c.561G>T r.(?) p.(Trp187Cys) Unknown - VUS g.152831348C>A - SYNE1(NM_033071.3):c.582G>T (p.W194C) - SYNE1_001092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.590G>A r.(?) p.(Gly197Glu) Parent #1 - VUS g.152826524C>T g.152505389C>T - - SYNE1_000839 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
+/. 9 c.638T>C r.(?) p.(Phe213Ser) Parent #2 - pathogenic (recessive) g.152826476A>G g.152505341A>G NM_033071.3:c.659T>C - SYNE1_000902 - PubMed: Synofzik 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR Fam20Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - 0 - - 1 Johan den Dunnen
?/. - c.646G>T r.(?) p.(Val216Phe) Unknown - VUS g.152826468C>A g.152505333C>A SYNE1(NM_182961.3):c.646G>T (p.V216F) - SYNE1_001010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.661C>T r.(?) p.(Arg221*) Both (homozygous) - pathogenic (recessive) g.152826453G>A g.152505318G>A NM_033071.3:c.682C>T - SYNE1_000901 - PubMed: Synofzik 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - SCAR Fam13Pat1 PubMed: Synofzik 2016 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Morocco - - 0 - - 2 Johan den Dunnen
+/. 9 c.661C>T r.(?) p.(Arg221*) Both (homozygous) - pathogenic (recessive) g.152826453G>A g.152505318G>A NM_033071.3:c.682C>T - SYNE1_000901 - PubMed: Synofzik 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - SCAR Fam13Pat2 PubMed: Synofzik 2016 sister F - Morocco - - 0 - - 1 Johan den Dunnen
+/. 9 c.706C>T r.(?) p.(Arg236*) Both (homozygous) - pathogenic (recessive) g.152826408G>A g.152505273G>A NM_033071.3:c.727C>T - SYNE1_000900 - PubMed: Synofzik 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SCAR Fam22Pat1 PubMed: Synofzik 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Italy - - 0 - - 1 Johan den Dunnen
?/. 10 c.781G>A r.(?) p.(Val261Ile) Parent #1 - VUS g.152823875C>T g.152502740C>T - - SYNE1_000838 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
?/. 10 c.797C>A r.(?) p.(Pro266Gln) Parent #1 - VUS g.152823859G>T g.152502724G>T - - SYNE1_000837 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
?/. 10 c.862G>A r.(?) p.(Ala288Thr) Parent #1 - VUS g.152823794C>T g.152502659C>T - - SYNE1_000836 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
?/. 11 c.939G>T r.(?) p.(Lys313Asn) Parent #1 - VUS g.152819877C>A g.152498742C>A - - SYNE1_000835 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.939+2T>C r.spl? p.? Unknown - VUS g.152819875A>G g.152498740A>G SYNE1(NM_182961.3):c.939+2T>C - SYNE1_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 12 c.941G>T r.(?) p.(Arg314Ile) Parent #1 - VUS g.152809637C>A g.152488502C>A - - SYNE1_000834 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
?/. 12 c.1038T>C r.(?) p.(=) Parent #1 - VUS g.152809540A>G g.152488405A>G - - SYNE1_000833 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 12 c.1038T>C r.(?) p.(=) Parent #1 - VUS g.152809540A>G g.152488405A>G - - SYNE1_000833 - 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.1047+4T>A r.spl? p.? Unknown - benign g.152809527A>T g.152488392A>T SYNE1(NM_182961.3):c.1047+4T>A - SYNE1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1047+4T>A r.spl? p.? Unknown - benign g.152809527A>T g.152488392A>T SYNE1(NM_182961.3):c.1047+4T>A - SYNE1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1047+4T>A r.spl? p.? Unknown - benign g.152809527A>T g.152488392A>T SYNE1(NM_182961.3):c.1047+4T>A - SYNE1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1047+4T>A r.spl? p.? Unknown - benign g.152809527A>T g.152488392A>T SYNE1(NM_182961.3):c.1047+4T>A - SYNE1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1047+6G>A r.(=) p.(=) Unknown - likely benign g.152809525C>T g.152488390C>T SYNE1(NM_182961.3):c.1047+6G>A - SYNE1_001009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1113A>G r.(?) p.(Pro371=) Unknown - likely benign g.152806042T>C g.152484907T>C SYNE1(NM_182961.3):c.1113A>G (p.P371=) - SYNE1_001008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141G>A r.(?) p.(Asp381Asn) Unknown - VUS g.152806014C>T g.152484879C>T SYNE1(NM_182961.3):c.1141G>A (p.D381N) - SYNE1_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 13 c.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 13 c.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 13 c.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 13 c.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 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.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 13 c.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 13 c.1141G>A r.(?) p.(Asp381Asn) Parent #1 - VUS g.152806014C>T g.152484879C>T - - SYNE1_000290 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.1141G>A r.(?) p.(Asp381Asn) Parent #1 - likely benign g.152806014C>T g.152484879C>T - - SYNE1_000290 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs146366996 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1141G>A r.(?) p.(Asp381Asn) Unknown - VUS g.152806014C>T g.152484879C>T SYNE1(NM_182961.3):c.1141G>A (p.D381N) - SYNE1_000290 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1186C>G r.(?) p.(Leu396Val) Parent #1 - VUS g.152804384G>C g.152483249G>C - - SYNE1_000832 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 14 c.1186C>G r.(?) p.(Leu396Val) Parent #1 - VUS g.152804384G>C g.152483249G>C - - SYNE1_000832 - 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.1215A>T r.(?) p.(Lys405Asn) Unknown - VUS g.152804355T>A - SYNE1(NM_182961.3):c.1215A>T (p.K405N) - SYNE1_001105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1304A>G r.(?) p.(His435Arg) Unknown - VUS g.152804266T>C g.152483131T>C SYNE1(NM_182961.3):c.1304A>G (p.H435R) - SYNE1_001007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 14 c.1322C>T r.(?) p.(Thr441Met) Parent #1 - VUS g.152804248G>A g.152483113G>A - - SYNE1_000831 - PubMed: Nallamilli 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - 0 - - 1 Madhuri Hegde
?/. 14 c.1330C>T r.(?) p.(Arg444Trp) Parent #1 - VUS g.152804240G>A g.152483105G>A - - SYNE1_000830 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
?/. 15 c.1391A>G r.(?) p.(His464Arg) Parent #1 - VUS g.152793508T>C g.152472373T>C - - SYNE1_000829 - 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.1420G>A r.(?) p.(Gly474Arg) Unknown - VUS g.152793479C>T g.152472344C>T SYNE1(NM_182961.3):c.1420G>A (p.G474R) - SYNE1_001073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1428A>G r.(?) p.(Pro476=) Unknown - likely benign g.152793471T>C g.152472336T>C SYNE1(NM_182961.3):c.1428A>G (p.P476=) - SYNE1_000288 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1431G>T r.(?) p.(Val477=) Unknown - likely benign g.152793468C>A g.152472333C>A - - SYNE1_001072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1483A>G r.(?) p.(Thr495Ala) Unknown - likely benign g.152792881T>C g.152471746T>C SYNE1(NM_182961.3):c.1483A>G (p.T495A) - SYNE1_000287 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1544T>A r.(?) p.(Leu515Gln) Unknown - VUS g.152792820A>T g.152471685A>T SYNE1(NM_182961.3):c.1544T>A (p.L515Q) - SYNE1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1544T>A r.(?) p.(Leu515Gln) Unknown - VUS g.152792820A>T g.152471685A>T SYNE1(NM_182961.3):c.1544T>A (p.L515Q) - SYNE1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 16i c.1633-81T>C r.(?) p.(=) Parent #1 - benign g.152787294A>G g.152466159A>G g.162173T>C - SYNE1_000038 - PubMed: Gros-Louis 2007 - - Germline - - - 0 - DNA SEQ - - Healthy/Control - PubMed: Gros-Louis 2007 - - - Canada French Canadian - 0 - - 1 Johan den Dunnen
?/. - c.1665A>C r.(?) p.(Gln555His) Unknown - VUS g.152787181T>G g.152466046T>G SYNE1(NM_182961.3):c.1665A>C (p.Q555H) - SYNE1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 17 c.1694A>G r.(?) p.(Gln565Arg) Parent #1 - VUS g.152787152T>C g.152466017T>C - - SYNE1_000828 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.1702G>T r.(?) p.(Glu568Ter) Unknown - pathogenic g.152787144C>A g.152466009C>A - - SYNE1_000321 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1708T>C r.(?) p.(Tyr570His) Unknown - VUS g.152787138A>G g.152466003A>G - - SYNE1_001071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 17 c.1723G>T r.(?) p.(Gly575Cys) Parent #1 - VUS g.152787123C>A g.152465988C>A - - SYNE1_000827 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
Legend   « First ‹ Prev     1 2 3 4 5 6 7 8 9 10 11 ...     Next › Last »