Full data view for gene BIN1

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_139343.2 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-403C>G r.(?) p.(=) Unknown - likely benign g.127864922G>C g.127107346G>C - - BIN1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-402G>C r.(?) p.(=) Unknown - likely benign g.127864921C>G g.127107345C>G - - BIN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 1 c.-27C>T r.(?) p.(=) Unknown - benign g.127864546G>A g.127106970G>A 1-27C>T - BIN1_000017 - PubMed: Nicot 2007 - - Germline - 0.07 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
+/. 1 c.53T>A r.(?) p.(Val18Glu) Parent #1 - pathogenic g.127864467A>T g.127106891A>T - - BIN1_000039 - PubMed: Kouwenberg 2017 - - Germline yes - - - - DNA SEQ - - CNM 29103045-Pat PubMed: Kouwenberg 2017 family, several affecteds - - Netherlands - - - - - 1 Johan den Dunnen
+?/. - c.53T>A r.(?) p.(Val18Glu) Unknown - likely pathogenic g.127864467A>T g.127106891A>T - - BIN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.105G>T r.(?) p.(Lys35Asn) Both (homozygous) - pathogenic g.127834262C>A g.127076686C>A - - BIN1_000001 not in 560 control chromosomes; normal DNM2, MTM1 PubMed: Nicot 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ, DHPLC - - CNM2 17676042-AAT68 PubMed: Nicot 2007 2-generation family, 3 affected sibs, unaffected heterozygous carrier parents M yes India - >12y - - - 3 Johan den Dunnen
+/. 2 c.105G>T r.(?) p.(Lys35Asn) Both (homozygous) - pathogenic g.127834262C>A g.127076686C>A - - BIN1_000001 not in 560 control chromosomes; normal DNM2, MTM1 PubMed: Nicot 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ, DHPLC - - CNM2 17676042-ACC82 PubMed: Nicot 2007 sister of AAT68 F yes India - 01y - - - 1 Johan den Dunnen
+/. 2 c.105G>T r.(?) p.(Lys35Asn) Both (homozygous) - pathogenic g.127834262C>A g.127076686C>A - - BIN1_000001 not in 560 control chromosomes; normal DNM2, MTM1 PubMed: Nicot 2007, OMIM:var0001 - - Germline - - - - - DNA SEQ, DHPLC - - CNM2 17676042-ADS5 PubMed: Nicot 2007 sister of AAT68 F yes India - 00y00m01d - - - 1 Johan den Dunnen
+/. 2 c.105G>T r.(?) p.Lys35Asn Unknown - NA g.127834262C>A g.127076686C>A - - BIN1_000001 expression cloning COS-1 cells abolished membrane tubulation PubMed: Nicot 2007, OMIM:var0001 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175A>G r.(?) p.(Thr59Ala) Unknown - likely benign g.127828383T>C g.127070807T>C - - BIN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 4i c.315+70C>T r.(?) p.(=) Unknown - benign g.127828059G>A g.127070483G>A 318+70C>T? - BIN1_000018 - PubMed: Nicot 2007 - - Germline - 0.02 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 4i c.316-19G>A r.(?) p.(=) Unknown - benign g.127827685C>T g.127070109C>T 319-19C>A - BIN1_000019 - PubMed: Nicot 2007 - - Germline - 0.01 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
?/. 4i c.316-3C>G r.(=) p.(=) Unknown - VUS g.127827669G>C g.127070093G>C - - BIN1_000036 - - - rs113742431 Germline - ? - - - - - - - - - - - - - - - - - - - - -
-/. 5i c.412-25T>C r.(?) p.(=) Unknown - benign g.127826632A>G g.127069056A>G - - BIN1_000020 - PubMed: Nicot 2007 - - Germline - 0.19 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
?/. 5i c.412-25T>C r.(?) p.(=) Unknown - VUS g.127826632A>G g.127069056A>G - - BIN1_000020 - - - rs67327804 Germline - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.434G>C r.(?) p.(Arg145Pro) Unknown - VUS g.127826585C>G - - - BIN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.451G>A r.451g>a p.Asp151Asn Both (homozygous) - pathogenic g.127826568C>T g.127068992C>T - - BIN1_000002 not in 560 control chromosomes; normal DNM2, MTM1 PubMed: Nicot 2007, PubMed: Toussaint 2010, OMIM:var0002 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CNM2 17676042-ADR71 PubMed: Nicot 2007, PubMed: Toussaint 2010 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - >35y - - - 1 Johan den Dunnen
+/. 6 c.451G>A r.(?) p.Asp151Asn Unknown - NA g.127826568C>T g.127068992C>T - - BIN1_000002 expression cloning COS-1 cells abolished membrane tubulation PubMed: Nicot 2007, OMIM:var0002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.461G>A r.461g>a p.Arg154Gln Both (homozygous) - pathogenic g.127826558C>T g.127068982C>T - - BIN1_000035 not in 560 control chromosomes PubMed: Claeys 2010, PubMed: Toussaint 2010 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - CNM2 20142620-Pat PubMed: Claeys 2010, PubMed: Toussaint 2010 2-generation family, 1 affected, unaffected heterozygous carrier father M - Morocco - - - - - 1 Johan den Dunnen
-/. 6 c.486T>C r.(?) p.(=) Unknown - benign g.127826533A>G g.127068957A>G 487T>C? - BIN1_000021 - PubMed: Nicot 2007 - rs1060743 Germline - 0.27 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.486T>C r.(?) p.(Thr162=) Unknown - benign g.127826533A>G g.127068957A>G - - BIN1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 6i c.520-110G>A r.(?) p.(=) Unknown - benign g.127825941C>T g.127068365C>T - - BIN1_000022 - PubMed: Nicot 2007 - - Germline - 0.01 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
?/. - c.544G>A r.(?) p.(Ala182Thr) Unknown - VUS g.127825807C>T - BIN1(NM_139343.2):c.544G>A (p.(Ala182Thr)) - BIN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.696C>A r.(?) p.(Asn232Lys) Unknown - VUS g.127821511G>T - BIN1(NM_001320632.1):c.603C>A (p.(Asn201Lys)) - BIN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8i c.698+10A>G r.(?) p.(=) Unknown - benign g.127821499T>C g.127063923T>C 699+10A>G - BIN1_000023 - PubMed: Nicot 2007 - rs72481904 Germline - 0.36 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.698+10A>G r.(=) p.(=) Unknown - benign g.127821499T>C g.127063923T>C BIN1(NM_139343.3):c.698+10A>G - BIN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.698+10A>G r.(=) p.(=) Unknown - benign g.127821499T>C g.127063923T>C BIN1(NM_139343.3):c.698+10A>G - BIN1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 8i c.698+56C>T r.(?) p.(=) Unknown - benign g.127821453G>A g.127063877G>A 699+56C>T? - BIN1_000024 - PubMed: Nicot 2007 - rs78935905 Germline - 0.08 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 8i c.698+57G>A r.(?) p.(=) Unknown - benign g.127821452C>T g.127063876C>T 699+57G>A? - BIN1_000025 - PubMed: Nicot 2007 - rs2071267 Germline - 0.08 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
?/. - c.699-1G>C r.spl? p.? Unknown - VUS g.127821223C>G g.127063647C>G BIN1(NM_139343.3):c.699-1G>C - BIN1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.701G>A r.(?) p.(Arg234His) Unknown - VUS g.127821220C>T g.127063644C>T - - BIN1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9 c.714C>T r.(?) p.(=) Unknown - benign g.127821207G>A g.127063631G>A 716C>T? - BIN1_000026 - PubMed: Nicot 2007 - rs1137845 Germline - 0.06 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.714C>T r.(?) p.(Tyr238=) Unknown - benign g.127821207G>A g.127063631G>A - - BIN1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 9i c.775-4G>A r.(?) p.(=) Unknown - benign g.127819777C>T g.127062201C>T 775-4A>A? - BIN1_000027 - PubMed: Nicot 2007 - - Germline - 0.10 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.775-4G>A r.spl? p.? Unknown - benign g.127819777C>T g.127062201C>T BIN1(NM_139343.3):c.775-4G>A - BIN1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.839C>T r.(?) p.(Thr280Met) Unknown - VUS g.127819709G>A - BIN1(NM_139343.2):c.839C>T (p.(Thr280Met)) - BIN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 10i c.857+4C>G r.(?) p.(=) Unknown - VUS g.127819687G>C g.127062111G>C - - BIN1_000004 - - - rs61748156 Germline - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.857+8C>T r.(=) p.(=) Unknown - likely benign g.127819683G>A - BIN1(NM_139343.3):c.857+8C>T - BIN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.858-1462G>A r.(=) p.(=) Unknown - likely benign g.127818193C>T g.127060617C>T - - BIN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 10i c.858-12C>A r.(?) p.(=) Unknown - benign g.127816743G>T g.127059167G>T 856-12C>A - BIN1_000029 - PubMed: Nicot 2007 - rs6720741 Germline - 0.18 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.858-12C>A r.(=) p.(=) Unknown - benign g.127816743G>T g.127059167G>T BIN1(NM_139343.3):c.858-12C>A - BIN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.858-12C>A r.(=) p.(=) Unknown - benign g.127816743G>T g.127059167G>T BIN1(NM_139343.3):c.858-12C>A - BIN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.894G>A r.(?) p.(=) Unknown - benign g.127816695C>T g.127059119C>T 893G>A? - BIN1_000030 - PubMed: Nicot 2007 - rs78936238 Germline - 0.10 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.894G>A r.(?) p.(Ser298=) Unknown - benign g.127816695C>T g.127059119C>T - - BIN1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 11 c.957C>T r.(?) p.(=) Unknown - benign g.127816632G>A g.127059056G>A 956C>T? - BIN1_000006 - PubMed: Nicot 2007 - rs2276579 Germline - 0.13 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.957C>T r.(?) p.(Ala319=) Unknown - benign g.127816632G>A g.127059056G>A - - BIN1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.969_980del r.(?) p.(Pro324_Thr327del) Unknown - VUS g.127816618_127816629del g.127059042_127059053del BIN1(NM_004305.3):c.921_932del (p.(Pro308_Thr311del)) - BIN1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11i c.1002+51C>T r.(?) p.(=) Unknown - VUS g.127816536G>A g.127058960G>A - - BIN1_000033 - - - rs2276580 Germline - 0.00-0.15 - - - - - - - - - - - - - - - - - - - - -
?/. 11i c.1002+112T>C r.(?) p.(=) Unknown - VUS g.127816475A>G g.127058899A>G - - BIN1_000031 - - - rs2276581 Germline - 0.00-0.17 - - - - - - - - - - - - - - - - - - - - -
?/. 11i c.1002+163T>C r.(?) p.(=) Unknown - VUS g.127816424A>G g.127058848A>G - - BIN1_000032 - - - rs2276582 Germline - 0.39-0.50 - - - - - - - - - - - - - - - - - - - - -
-/. 11i c.1003-60C>T r.(?) p.(=) Unknown - benign g.127815237G>A g.127057661G>A 1004-61C>T? - BIN1_000009 - PubMed: Nicot 2007 - rs3754615 Germline - 0.08 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 11i c.1003-41G>A r.(?) p.(=) Unknown - benign g.127815218C>T g.127057642C>T 1004-41G>A? - BIN1_000008 - PubMed: Nicot 2007 - rs3754616 Germline - 0.04 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 11i c.1003-15G>A r.(?) p.(=) Unknown - benign g.127815192C>T g.127057616C>T 1004-15G>A? - BIN1_000007 - PubMed: Nicot 2007 - - Germline - 0.02 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1131+9C>T r.(=) p.(=) Unknown - likely benign g.127815040G>A - BIN1(NM_139343.3):c.1131+9C>T - BIN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 12i c.1132-91C>G r.(?) p.(=) Unknown - benign g.127811679G>C g.127054103G>C 1134-92C>G? - BIN1_000040 - PubMed: Nicot 2007 - - Germline - 0.06 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1132-7T>C r.(=) p.(=) Unknown - likely benign g.127811595A>G - BIN1(NM_001320642.1):c.1051-7T>C - BIN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 13i c.1239+50A>C r.(?) p.(=) Unknown - benign g.127811431T>G g.127053855T>G - - BIN1_000010 - PubMed: Nicot 2007 - rs79410526 Germline - 0.01 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 13i c.1240-21C>T r.(?) p.(=) Unknown - benign g.127811042G>A g.127053466G>A - - BIN1_000011 - PubMed: Nicot 2007 - rs76414720 Germline - 0.03 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1263+11C>T r.(=) p.(=) Unknown - benign g.127810987G>A g.127053411G>A BIN1(NM_139343.3):c.1263+11C>T - BIN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1362G>T r.(?) p.(=) Unknown - benign g.127809840C>A - BIN1(NM_139343.3):c.1362G>T (p.(Gly454=)) - BIN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 16 c.1461C>T r.(spl?) p.(?) Unknown - VUS g.127808730G>A g.127051154G>A - - BIN1_000034 - - - rs34647988 Germline - 0.01 - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1462-3C>T r.spl? p.? Unknown - likely benign g.127808491G>A - BIN1(NM_139343.3):c.1462-3C>T - BIN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1541G>A r.(?) p.(Arg514His) Unknown - VUS g.127808409C>T - BIN1(NM_139343.3):c.1541G>A (p.(Arg514His)) - BIN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 17i c.1573-72C>T r.(?) p.(=) Unknown - benign g.127808170G>A g.127050594G>A - - BIN1_000015 - PubMed: Nicot 2007 - rs7558001 Germline - 0.21 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 17i c.1573-63C>T r.(?) p.(=) Unknown - benign g.127808161G>A g.127050585G>A - - BIN1_000014 - PubMed: Nicot 2007 - rs7558000 Germline - 0.14 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 17i c.1573-29G>C r.(?) p.(=) Unknown - benign g.127808127C>G g.127050551C>G - - BIN1_000013 - PubMed: Nicot 2007 - rs12466914 Germline - 0.05 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. 17i c.1573-18G>C r.(?) p.(=) Unknown - benign g.127808116C>G g.127050540C>G - - BIN1_000012 - PubMed: Nicot 2007 - rs12466912 Germline - 0.04 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1573-18G>C r.(=) p.(=) Unknown - benign g.127808116C>G g.127050540C>G - - BIN1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1595C>T r.(?) p.(Thr532Met) Parent #1 - likely benign g.127808076G>A g.127050500G>A - - BIN1_000050 13 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs112318500 Germline - 13/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 13 Mohammed Faruq
-?/. - c.1625A>G r.(?) p.(Lys542Arg) Unknown - likely benign g.127808046T>C - BIN1(NM_001320632.1):c.1118A>G (p.(Lys373Arg)) - BIN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 18i c.1675-88G>A r.(?) p.(=) Unknown - benign g.127806297C>T g.127048721C>T - - BIN1_000016 - PubMed: Nicot 2007 - - Germline - 0.01 - - - DNA SEQ - - ? 17676042-c PubMed: Nicot 2007 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1713G>A r.(?) p.(Trp571*) Parent #1 - pathogenic g.127806171C>T g.127048595C>T - - BIN1_000049 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783343 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. 19 c.1717C>T r.(?) p.(Gln573*) Both (homozygous) - pathogenic g.127806167G>A g.127048591G>A Gln573Stop - BIN1_000038 - PubMed: Toussaint 2010 - - Germline - - - - - DNA SEQ - - CNM2 ? PubMed: Toussaint 2010 - - - - - - - - - 1 Johan den Dunnen
+/. 19 c.1723A>T r.(?) p.(Lys575*) Both (homozygous) - pathogenic g.127806161T>A g.127048585T>A 1723A>T - BIN1_000003 not in 560 control chromosomes; normal DNM2, MTM1 PubMed: Nicot 2007, OMIM:var0003 - - Germline - - - - - DNA SEQ, DHPLC - - CNM2 17676042-LF41 PubMed: Nicot 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Iraq - >14y - - - 1 Johan den Dunnen
+/. 19 c.1723A>T r.(?) p.(Lys575*) Both (homozygous) - pathogenic g.127806161T>A g.127048585T>A - - BIN1_000003 - PubMed: Mejaddam 2009 - - Germline - - - - - DNA SEQ - - CNM2 20476667-Pat PubMed: Mejaddam 2009 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Sweden - >17y - - - 1 Johan den Dunnen
?/. 19 c.1723A>T r.(?) p.Lys575* Unknown - NA g.127806161T>A g.127048585T>A - - BIN1_000003 expression cloning COS-1 cells no effect on membrane tubulation PubMed: Nicot 2007, OMIM:var0003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 19 c.1723A>T r.(?) p.Lys575* Unknown - NA g.127806161T>A g.127048585T>A - - BIN1_000003 expression cloning COS-1 cells reduced DNM2 binding CoIP PubMed: Nicot 2007, OMIM:var0003 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1747G>A r.(?) p.(Val583Ile) Unknown - likely benign g.127806137C>T - BIN1(NM_139343.2):c.1747G>A (p.(Val583Ile)) - BIN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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