All variants in the SH3TC2 gene

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_024577.3 transcript reference sequence.

194 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-110C>T r.(?) p.(=) - likely benign g.148442695G>A g.149063132G>A SH3TC2(NM_024577.3):c.-110C>T - SH3TC2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 c.28del r.(?) p.(Glu10Serfs*4) - pathogenic g.148442560del g.149062997del 28delG - SH3TC2_000017 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.43del r.(?) p.(Arg15GlyfsTer19) - likely pathogenic g.148442545del g.149062982del SH3TC2(NM_024577.3):c.43delC (p.R15Gfs*19) - SH3TC2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.52G>A r.(?) p.(Gly18Ser) - VUS g.148442534C>T g.149062971C>T SH3TC2(NM_024577.3):c.52G>A (p.G18S) - SH3TC2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.79A>G r.(?) p.(Thr27Ala) - VUS g.148431777T>C g.149052214T>C SH3TC2(NM_024577.3):c.79A>G (p.T27A) - SH3TC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.79A>G r.(?) p.(Thr27Ala) - likely benign g.148431777T>C g.149052214T>C SH3TC2(NM_024577.3):c.79A>G (p.T27A) - SH3TC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.152-64T>C r.(=) p.(=) - VUS g.148427616A>G g.149048053A>G - - SH3TC2_000032 - - - - Germline - - - 0 - Andreas Laner
+?/. - c.152-7_152-4del r.(?) p.(?) ACMG likely pathogenic g.148427557_148427560del g.149047994_149047997del 152-7_152-4delCTTT - SH3TC2_000072 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
?/. - c.164C>T r.(?) p.(Ser55Phe) - VUS g.148427540G>A g.149047977G>A SH3TC2(NM_024577.3):c.164C>T (p.S55F) - SH3TC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.211C>T r.(?) p.(Gln71*) - pathogenic g.148427493G>A g.149047930G>A - - SH3TC2_000108 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - - Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 3 c.217_227delinsCCAGTAA r.(?) p.(Ala73Profs*55) - pathogenic g.148427477_148427487delinsTTACTGG g.149047914_149047924delinsTTACTGG 217_227delGCTGCTCGGAGinsCCAGTAA - SH3TC2_000009 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
?/. - c.233_239del r.(?) p.(Leu78HisfsTer49) - VUS g.148427468_148427474del g.149047905_149047911del SH3TC2(NM_024577.3):c.233_239delTCTGGGC (p.L78Hfs*49) - SH3TC2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.279G>A r.(?) p.(Lys93=) - likely pathogenic g.148427425C>T g.149047862C>T SH3TC2(NM_024577.3):c.279G>A (p.K93=) - SH3TC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+?/. - c.279G>A r.(?) p.(Lys93=) - likely pathogenic g.148427425C>T g.149047862C>T SH3TC2(NM_024577.3):c.279G>A (p.K93=) - SH3TC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.287C>T r.(?) p.(Ser96Leu) - likely pathogenic (recessive) g.148424194G>A g.149044631G>A - - SH3TC2_000116 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.385+4_385+8del r.spl? p.? - likely benign g.148424092_148424096del g.149044529_149044533del SH3TC2(NM_024577.3):c.385+4_385+8delTGGTA - SH3TC2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.477T>A r.(?) p.(Ser159=) - benign g.148422309A>T g.149042746A>T SH3TC2(NM_024577.3):c.477T>A (p.S159=) - SH3TC2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 5 c.505T>C r.(?) p.(Tyr169His) - pathogenic g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Lupski 2010 - rs80359890 Germline - - - 0 - Johan den Dunnen
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G g.149042718A>G SH3TC2(NM_024577.3):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G g.149042718A>G SH3TC2(NM_024577.3):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.505T>C r.(?) p.Tyr169His ACMG VUS g.148422281A>G g.149042718A>G - - SH3TC2_000024 no second variant detected in SH3TC2; reported in Lupski (2010) N Engl J Med 362: 1181 Lupski (2013) Genome Med 5: 57; Rudnik-Schöneborn 2016. Neuromuscul Disord 26: 132 - - rs80359890 Germline - - - 0 - Andreas Laner
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G g.149042718A>G SH3TC2(NM_024577.3):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.505T>C r.(?) p.(Tyr169His) - VUS g.148422281A>G g.149042718A>G - - SH3TC2_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80359890 Germline - 2/2792 individuals - 0 - Mohammed Faruq
-?/. - c.505T>C r.(?) p.(Tyr169His) ACMG likely benign g.148422281A>G g.149042718A>G - - SH3TC2_000024 ACMG grading: BS1,BP4,BP5; -; Rudnik-Schöneborn et al. 2016. Neuromuscul Disord 26: 132 - - rs80359890 Germline - - - 0 - Andreas Laner
+/. - c.505T>C r.(?) p.(Tyr169His) - pathogenic (recessive) g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Antoniadi 2015 - rs80359890 Germline - - - 0 - Johan den Dunnen
+/. - c.505T>C r.(?) p.(Tyr169His) - pathogenic (recessive) g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Antoniadi 2015 - rs80359890 Germline - - - 0 - Johan den Dunnen
-/. - c.512G>A r.(?) p.(Gly171Glu) - benign g.148422274C>T g.149042711C>T SH3TC2(NM_024577.3):c.512G>A (p.G171E) - SH3TC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.517C>A r.(?) p.(Leu173Met) - VUS g.148422269G>T g.149042706G>T - - SH3TC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.530-2A>G r.spl? p.? - pathogenic g.148421182T>C g.149041619T>C SH3TC2(NM_024577.3):c.530-2A>G - SH3TC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 5i c.530-2A>T r.spl p.? - pathogenic g.148421182T>A g.149041619T>A - - SH3TC2_000028 - - - - Germline - - - 0 - IMGAG
+/. - c.543C>A r.(?) p.(Cys181Ter) - pathogenic g.148421167G>T g.149041604G>T - - SH3TC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.596C>T r.(?) p.(Thr199Ile) - pathogenic g.148421114G>A g.149041551G>A - - SH3TC2_000025 - PubMed: Lassuthova 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.645C>T r.(=) p.(=) - benign g.148421065G>A g.149041502G>A - - SH3TC2_000037 - - - - Germline - - - 0 - Andreas Laner
-/. - c.645C>T r.(?) p.(Ser215=) - benign g.148421065G>A g.149041502G>A SH3TC2(NM_024577.3):c.645C>T (p.S215=) - SH3TC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.646G>A r.(?) p.(Glu216Lys) - VUS g.148421064C>T - SH3TC2(NM_024577.3):c.646G>A (p.E216K) - SH3TC2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 6 c.680G>A r.(?) p.(Arg227Gln) - pathogenic g.148421030C>T g.149041467C>T - - SH3TC2_000026 - PubMed: Lassuthova 2011 - - Germline - - - 0 - Johan den Dunnen
?/. - c.689T>C r.(?) p.(Val230Ala) - VUS g.148421021A>G g.149041458A>G SH3TC2(NM_024577.3):c.689T>C (p.(Val230Ala)) - SH3TC2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.819dup r.(?) p.(Lys274Ter) - likely pathogenic g.148418040dup g.149038477dup SH3TC2(NM_024577.3):c.819dupT (p.K274*) - SH3TC2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.894C>T r.(=) p.(=) - VUS g.148417965G>A g.149038402G>A - - SH3TC2_000036 - - - - Germline - - - 0 - Andreas Laner
+/. 8 c.920G>A r.(?) p.(Trp307*) - pathogenic g.148417939C>T g.149038376C>T - - SH3TC2_000027 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.920G>A r.(?) p.(Trp307Ter) - pathogenic g.148417939C>T g.149038376C>T SH3TC2(NM_024577.3):c.920G>A (p.W307*) - SH3TC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.925A>G r.(?) p.(Ile309Val) - VUS g.148417934T>C g.149038371T>C - - SH3TC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1002-12G>T r.(=) p.(=) - likely benign g.148411262C>A g.149031699C>A SH3TC2(NM_024577.3):c.1002-12G>T - SH3TC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1096A>G r.(?) p.(Thr366Ala) - VUS g.148411156T>C g.149031593T>C SH3TC2(NM_024577.3):c.1096A>G (p.T366A) - SH3TC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1177+10G>A r.(=) p.(=) - likely benign g.148408230C>T - SH3TC2(NM_024577.3):c.1177+10G>A - SH3TC2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.1178-1G>A r.spl? p.? - pathogenic g.148408118C>T g.149028555C>T SH3TC2(NM_024577.3):c.1178-1G>A - SH3TC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1194T>C r.(?) p.(Gly398=) - benign g.148408101A>G g.149028538A>G SH3TC2(NM_024577.3):c.1194T>C (p.G398=) - SH3TC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1194T>C r.(?) p.(Gly398=) - benign g.148408101A>G g.149028538A>G SH3TC2(NM_024577.3):c.1194T>C (p.G398=) - SH3TC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1255del r.(?) p.(Ser419Profs*38) ACMG likely pathogenic g.148408040del g.149028477del 1255delT - SH3TC2_000076 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. 11 c.1285G>T r.(?) p.(Glu429*) - pathogenic g.148408010C>A g.149028447C>A - - SH3TC2_000001 - PubMed: Lassuthova 2011 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1298C>T r.(?) p.(Ser433Leu) - VUS g.148407997G>A g.149028434G>A SH3TC2(NM_024577.3):c.1298C>T (p.S433L) - SH3TC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1299G>C r.(?) p.(Ser433=) - likely benign g.148407996C>G g.149028433C>G SH3TC2(NM_024577.3):c.1299G>C (p.S433=) - SH3TC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1306T>A r.(?) p.(Ser436Thr) - likely pathogenic (dominant) g.148407989A>T g.149028426A>T - - SH3TC2_000115 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
-/. - c.1350G>A r.(?) p.(Pro450=) - benign g.148407945C>T g.149028382C>T SH3TC2(NM_024577.3):c.1350G>A (p.P450=) - SH3TC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1387G>A r.(?) p.(Glu463Lys) - VUS g.148407908C>T g.149028345C>T SH3TC2(NM_024577.3):c.1387G>A (p.E463K) - SH3TC2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1402G>T r.(?) p.(Ala468Ser) - benign g.148407893C>A g.149028330C>A SH3TC2(NM_024577.3):c.1402G>T (p.A468S) - SH3TC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1402G>T r.(?) p.(Ala468Ser) - benign g.148407893C>A g.149028330C>A SH3TC2(NM_024577.3):c.1402G>T (p.A468S) - SH3TC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1403C>T r.(?) p.(Ala468Val) - likely benign g.148407892G>A g.149028329G>A SH3TC2(NM_024577.3):c.1403C>T (p.A468V) - SH3TC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1403C>T r.(?) p.(Ala468Val) - likely benign g.148407892G>A g.149028329G>A SH3TC2(NM_024577.3):c.1403C>T (p.A468V) - SH3TC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1407del r.(?) p.(Ile470TyrfsTer54) - likely pathogenic g.148407892del g.149028329del SH3TC2(NM_024577.3):c.1407delC (p.I470Yfs*54) - SH3TC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1443C>T r.(?) p.(Asp481=) - likely benign g.148407852G>A g.149028289G>A SH3TC2(NM_024577.3):c.1443C>T (p.D481=) - SH3TC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+?/. - c.1520_1523del r.(?) p.(Phe507Trpfs*16) - likely pathogenic (recessive) g.148407774_148407777del g.149028211_149028214del c.1520_1523delTTGT - SH3TC2_000114 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1573T>C r.(?) p.(Trp525Arg) - VUS g.148407722A>G g.149028159A>G - - SH3TC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1580A>C r.(?) p.(His527Pro) ACMG VUS g.148407715T>G g.149028152T>G - - SH3TC2_000097 ACMG grading: PP3, PM3, PM2 - - - Germline - - - 0 - Andreas Laner
+?/? 11 c.1585C>T r.(?) p.(Arg529Cys) - likely pathogenic g.148407710G>A g.149028147G>A - - SH3TC2_000031 - - - - Germline yes 15/15 reads - 0 - Jill Urquhart
+/. - c.1586G>A r.(?) p.(Arg529His) - pathogenic g.148407709C>T g.149028146C>T SH3TC2(NM_024577.3):c.1586G>A (p.R529H) - SH3TC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1587T>G r.(?) p.(Arg529=) - benign g.148407708A>C g.149028145A>C SH3TC2(NM_024577.3):c.1587T>G (p.R529=) - SH3TC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.1587T>G r.(?) p.(Arg529=) - benign g.148407708A>C g.149028145A>C SH3TC2(NM_024577.3):c.1587T>G (p.R529=) - SH3TC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1587T>G r.(?) p.(Arg529=) - benign g.148407708A>C g.149028145A>C SH3TC2(NM_024577.3):c.1587T>G (p.R529=) - SH3TC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1679del r.(?) p.(Gly560Glufs*21) ACMG likely pathogenic g.148407617del g.149028054del 1679delG - SH3TC2_000073 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. - c.1747_1748del r.(?) p.(Arg583Alafs*4) - pathogenic g.148407549_148407550del g.149027986_149027987del - - SH3TC2_000002 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1747_1748del r.(?) p.(Arg583Alafs*4) - pathogenic g.148407549_148407550del g.149027986_149027987del 1747_1748delAG - SH3TC2_000002 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1767C>T r.(?) p.(Ser589=) - likely benign g.148407528G>A g.149027965G>A SH3TC2(NM_024577.3):c.1767C>T (p.S589=) - SH3TC2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1862G>A r.(?) p.(Arg621His) - VUS g.148407433C>T g.149027870C>T - - SH3TC2_000107 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143032801 Germline - 2/2794 individuals - 0 - Mohammed Faruq
+?/. - c.1865A>C r.(?) p.(Gln622Pro) ACMG likely pathogenic g.148407430T>G g.149027867T>G - - SH3TC2_000075 ACMG pm2, pm3, pp2, pp3 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
+/. 11 c.1894_1897delinsAAA r.(?) p.(Glu632Lysfs*13) - pathogenic g.148407398_148407401delinsTTT g.149027835_149027838delinsTTT 1894_1897delGAGGinsAAA - SH3TC2_000003 - PubMed: Fischer 2011 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1894_1897delinsAAA r.(?) p.(Glu632Lysfs*13) ACMG likely pathogenic g.148407398_148407401delinsTTT g.149027835_149027838delinsTTT - - SH3TC2_000003 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1906_1922delinsAGGGC r.(?) p.(Cys636_Arg641delinsArgAla) - pathogenic g.148407373_148407389delinsGCCCT g.149027810_149027826delinsGCCCT 1906_1922delTGCTTTCTGGCCATCCGinsAGGGC - SH3TC2_000004 - PubMed: Lupo 2009 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1921C>T r.(?) p.(Arg641Cys) - VUS g.148407374G>A - - - SH3TC2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.1922G>A r.(?) p.(Arg641His) - VUS g.148407373C>T g.149027810C>T - - SH3TC2_000106 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs199991156 Germline - 1/2789 individuals - 0 - Mohammed Faruq
+/. 11 c.1969G>A r.(?) p.(Glu657Lys) - pathogenic g.148407326C>T g.149027763C>T - - SH3TC2_000005 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1969G>A r.(?) p.(Glu657Lys) - pathogenic g.148407326C>T g.149027763C>T SH3TC2(NM_024577.3):c.1969G>A (p.E657K) - SH3TC2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.1972C>T r.(?) p.(Arg658Cys) - pathogenic g.148407323G>A g.149027760G>A - - SH3TC2_000006 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1972C>T r.(?) p.(Arg658Cys) - pathogenic g.148407323G>A g.149027760G>A - - SH3TC2_000006 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1972C>T r.(?) p.(Arg658Cys) - pathogenic g.148407323G>A g.149027760G>A SH3TC2(NM_024577.3):c.1972C>T (p.R658C) - SH3TC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.1972C>T r.(?) p.(Arg658Cys) - pathogenic g.148407323G>A g.149027760G>A - - SH3TC2_000006 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
+?/. - c.1972C>T r.(?) p.(Arg658Cys) - likely pathogenic g.148407323G>A g.149027760G>A - - SH3TC2_000006 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80338926 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. 11 c.1982T>C r.(?) p.(Leu661Pro) - pathogenic g.148407313A>G g.149027750A>G - - SH3TC2_000007 - PubMed: Roberts 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1982T>C r.(?) p.(Leu661Pro) - pathogenic g.148407313A>G g.149027750A>G SH3TC2(NM_024577.3):c.1982T>C (p.L661P) - SH3TC2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 11 c.1985T>C r.(?) p.(Leu662Pro) - pathogenic g.148407310A>G g.149027747A>G - - SH3TC2_000008 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2033T>C r.(?) p.(Phe678Ser) - likely benign g.148407262A>G g.149027699A>G SH3TC2(NM_024577.3):c.2033T>C (p.F678S) - SH3TC2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.2126G>A r.(?) p.(Trp709Ter) - pathogenic g.148407169C>T g.149027606C>T - - SH3TC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.2208del r.(?) p.(Cys737Alafs*14) - likely pathogenic (recessive) g.148407088del g.149027525del - - SH3TC2_000113 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2208del r.(?) p.(Cys737Alafs*14) - likely pathogenic (recessive) g.148407088del g.149027525del - - SH3TC2_000113 - PubMed: Antoniadi 2015 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.2211_2213del r.(?) p.(Cys737*) - pathogenic g.148407082_148407084del g.149027519_149027521del 2211_2213delCCC - SH3TC2_000010 - PubMed: Claramunt 2007 - - Germline - - - 0 - Johan den Dunnen
-/. - c.2235T>G r.(?) p.(Ala745=) - benign g.148407060A>C g.149027497A>C SH3TC2(NM_024577.3):c.2235T>G (p.A745=) - SH3TC2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.2266C>T r.(?) p.(Gln756*) ACMG likely pathogenic g.148407029G>A g.149027466G>A - - SH3TC2_000074 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
?/. - c.2339T>C r.(?) p.Leu780Pro ACMG VUS g.148406956A>G g.149027393A>G - - SH3TC2_000071 ACMG grading: PP5,PM2; reported in Zimo 2015. Neurogenetics 16: 33 - - - Germline - - - 0 - Andreas Laner
+/. - c.2339T>C r.(?) p.(Leu780Pro) - pathogenic g.148406956A>G g.149027393A>G - - SH3TC2_000071 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
+/. 11 c.2491_2492del r.(?) p.(Leu832Hisfs*8) - pathogenic g.148406807_148406808del g.149027244_149027245del 2491_2492delAG - SH3TC2_000011 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
Legend   « First ‹ Prev     1 2     Next › Last »