All transcript variants in gene SH3TC2

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.

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

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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 likely benign r.(?) p.(=) g.148442695G>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) g.148442558del - 28delG - SH3TC2_000017 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.43del likely pathogenic r.(?) p.(Arg15Glyfs*19) g.148442545del - SH3TC2(NM_024577.3):c.43delC (p.R15Gfs*19) - SH3TC2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.52G>A VUS r.(?) p.(Gly18Ser) g.148442534C>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 VUS r.(?) p.(Thr27Ala) g.148431777T>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 likely benign r.(?) p.(Thr27Ala) g.148431777T>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 VUS r.(=) p.(=) g.148427616A>G g.149048053A>G - - SH3TC2_000032 - - - - Germline - - - 0 - Andreas Laner
+?/. - c.152-7_152-4del likely pathogenic r.(?) p.(?) g.148427556_148427559del - 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 VUS r.(?) p.(Ser55Phe) g.148427540G>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*) g.148427493G>A g.149047930G>A - - SH3TC2_000108 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - - Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. 3 c.217_227delinsCCAGTAA - r.(?) p.(Ala73Profs*55) g.148427477_148427487delinsTTACTGG - 217_227delGCTGCTCGGAGinsCCAGTAA - SH3TC2_000009 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
?/. - c.233_239del VUS r.(?) p.(Leu78Hisfs*49) g.148427468_148427474del - 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 likely pathogenic r.(?) p.(=) g.148427425C>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 likely pathogenic r.(?) p.(=) g.148427425C>T - SH3TC2(NM_024577.3):c.279G>A (p.K93=) - SH3TC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.385+4_385+8del likely benign r.spl? p.? g.148424092_148424096del - SH3TC2(NM_024577.3):c.385+4_385+8delTGGTA - SH3TC2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.477T>A benign r.(?) p.(=) g.148422309A>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) g.148422281A>G - - - SH3TC2_000024 - PubMed: Lupski 2010 - rs80359890 Germline - - - 0 - Johan den Dunnen
?/. - c.505T>C VUS r.(?) p.(Tyr169His) g.148422281A>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 VUS r.(?) p.(Tyr169His) g.148422281A>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 ACMG: 3 r.(?) p.Tyr169His g.148422281A>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 VUS r.(?) p.(Tyr169His) g.148422281A>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) g.148422281A>G g.149042718A>G - - SH3TC2_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80359890 Germline - 2/2790 individuals - 0 - Mohammed Faruq
-/. - c.512G>A benign r.(?) p.(Gly171Glu) g.148422274C>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 VUS r.(?) p.(Leu173Met) g.148422269G>T - - - SH3TC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.530-2A>G pathogenic r.spl? p.? g.148421182T>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 pathogenic r.spl p.? g.148421182T>A - - - SH3TC2_000028 - - - - Germline - - - 0 - IMGAG
+/. - c.543C>A pathogenic r.(?) p.(Cys181*) g.148421167G>T - - - SH3TC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 6 c.596C>T - r.(?) p.(Thr199Ile) g.148421114G>A - - - SH3TC2_000025 - PubMed: Lassuthova 2011 - - Germline - - - 0 - Johan den Dunnen
-/. - c.645C>T benign r.(=) p.(=) g.148421065G>A g.149041502G>A - - SH3TC2_000037 - - - - Germline - - - 0 - Andreas Laner
-/. - c.645C>T benign r.(?) p.(=) g.148421065G>A - SH3TC2(NM_024577.3):c.645C>T (p.S215=) - SH3TC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 6 c.680G>A - r.(?) p.(Arg227Gln) g.148421030C>T - - - SH3TC2_000026 - PubMed: Lassuthova 2011 - - Germline - - - 0 - Johan den Dunnen
?/. - c.689T>C VUS r.(?) p.(Val230Ala) g.148421021A>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 likely pathogenic r.(?) p.(Lys274*) g.148418040dup - SH3TC2(NM_024577.3):c.819dupT (p.K274*) - SH3TC2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.894C>T VUS r.(=) p.(=) g.148417965G>A g.149038402G>A - - SH3TC2_000036 - - - - Germline - - - 0 - Andreas Laner
+/. 8 c.920G>A - r.(?) p.(Trp307*) g.148417939C>T - - - SH3TC2_000027 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
+/. - c.920G>A pathogenic r.(?) p.(Trp307*) g.148417939C>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 VUS r.(?) p.(Ile309Val) g.148417934T>C - - - SH3TC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1002-12G>T likely benign r.(=) p.(=) g.148411262C>A - SH3TC2(NM_024577.3):c.1002-12G>T - SH3TC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1096A>G VUS r.(?) p.(Thr366Ala) g.148411156T>C - SH3TC2(NM_024577.3):c.1096A>G (p.T366A) - SH3TC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.1178-1G>A pathogenic r.spl? p.? g.148408118C>T - SH3TC2(NM_024577.3):c.1178-1G>A - SH3TC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1194T>C benign r.(?) p.(=) g.148408101A>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 benign r.(?) p.(=) g.148408101A>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 likely pathogenic r.(?) p.(Ser419Profs*38) g.148408040del - 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*) g.148408010C>A - - - SH3TC2_000001 - PubMed: Lassuthova 2011 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1298C>T VUS r.(?) p.(Ser433Leu) g.148407997G>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 likely benign r.(?) p.(=) g.148407996C>G - SH3TC2(NM_024577.3):c.1299G>C (p.S433=) - SH3TC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1350G>A benign r.(?) p.(=) g.148407945C>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 VUS r.(?) p.(Glu463Lys) g.148407908C>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 benign r.(?) p.(Ala468Ser) g.148407893C>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 benign r.(?) p.(Ala468Ser) g.148407893C>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 likely benign r.(?) p.(Ala468Val) g.148407892G>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 likely benign r.(?) p.(Ala468Val) g.148407892G>A - SH3TC2(NM_024577.3):c.1403C>T (p.A468V) - SH3TC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. - c.1407del likely pathogenic r.(?) p.(Ile470Tyrfs*54) g.148407892del - SH3TC2(NM_024577.3):c.1407delC (p.I470Yfs*54) - SH3TC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1443C>T likely benign r.(?) p.(=) g.148407852G>A - SH3TC2(NM_024577.3):c.1443C>T (p.D481=) - SH3TC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1573T>C VUS r.(?) p.(Trp525Arg) g.148407722A>G - - - SH3TC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.1580A>C ACMG: 3 r.(?) p.(His527Pro) g.148407715T>G - - - SH3TC2_000097 ACMG grading: PP3, PM3, PM2 - - - Germline - - - 0 - Andreas Laner
+?/? 11 c.1585C>T - r.(?) p.(Arg529Cys) g.148407710G>A g.149028147G>A - - SH3TC2_000031 - - - - Germline yes 15/15 reads - 0 - Jill Urquhart
+/. - c.1586G>A pathogenic r.(?) p.(Arg529His) g.148407709C>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 benign r.(?) p.(=) g.148407708A>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 benign r.(?) p.(=) g.148407708A>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 benign r.(?) p.(=) g.148407708A>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 likely pathogenic r.(?) p.(Gly560Glufs*21) g.148407616del - 1679delG - SH3TC2_000073 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - 0 - Johan den Dunnen
+/. - c.1747_1748del pathogenic r.(?) p.(Arg583Alafs*4) g.148407547_148407548del g.149027984_149027985del - - SH3TC2_000002 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1747_1748del - r.(?) p.(Arg583Alafs*4) g.148407547_148407548del g.149027984_149027985del 1747_1748delAG - SH3TC2_000002 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.1767C>T likely benign r.(?) p.(=) g.148407528G>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) g.148407433C>T g.149027870C>T - - SH3TC2_000107 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs143032801 Germline - 2/2792 individuals - 0 - Mohammed Faruq
+?/. - c.1865A>C likely pathogenic r.(?) p.(Gln622Pro) g.148407430T>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) g.148407398_148407401delinsTTT - 1894_1897delGAGGinsAAA - SH3TC2_000003 - PubMed: Fischer 2011 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.1894_1897delinsAAA ACMG: 4 r.(?) p.(Glu632Lysfs*13) g.148407398_148407401delinsTTT - - - SH3TC2_000003 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1906_1922delinsAGGGC - r.(?) p.(Cys636_Arg641delinsArgAla) g.148407373_148407389delinsGCCCT - 1906_1922delTGCTTTCTGGCCATCCGinsAGGGC - SH3TC2_000004 - PubMed: Lupo 2009 - - Germline - - - 0 - Johan den Dunnen
?/. - c.1922G>A - r.(?) p.(Arg641His) g.148407373C>T g.149027810C>T - - SH3TC2_000106 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs199991156 Germline - 1/2788 individuals - 0 - Mohammed Faruq
+/. 11 c.1969G>A - r.(?) p.(Glu657Lys) g.148407326C>T - - - SH3TC2_000005 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1969G>A pathogenic r.(?) p.(Glu657Lys) g.148407326C>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 pathogenic r.(?) p.(Arg658Cys) g.148407323G>A g.149027760G>A - - SH3TC2_000006 - - - - Germline - - - 0 - Andreas Laner
+/. 11 c.1972C>T - r.(?) p.(Arg658Cys) g.148407323G>A g.149027760G>A - - SH3TC2_000006 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1972C>T pathogenic r.(?) p.(Arg658Cys) g.148407323G>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 pathogenic r.(?) p.(Arg658Cys) g.148407323G>A - - - SH3TC2_000006 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
+?/. - c.1972C>T - r.(?) p.(Arg658Cys) g.148407323G>A g.149027760G>A - - SH3TC2_000006 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80338926 Germline - 1/2794 individuals - 0 - Mohammed Faruq
+/. 11 c.1982T>C - r.(?) p.(Leu661Pro) g.148407313A>G - - - SH3TC2_000007 - PubMed: Roberts 2010 - - Germline - - - 0 - Johan den Dunnen
+/. - c.1982T>C pathogenic r.(?) p.(Leu661Pro) g.148407313A>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) g.148407310A>G - - - SH3TC2_000008 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.2033T>C likely benign r.(?) p.(Phe678Ser) g.148407262A>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 pathogenic r.(?) p.(Trp709*) g.148407169C>T - - - SH3TC2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 11 c.2211_2213del - r.(?) p.(Cys737*) g.148407082_148407084del - 2211_2213delCCC - SH3TC2_000010 - PubMed: Claramunt 2007 - - Germline - - - 0 - Johan den Dunnen
-/. - c.2235T>G benign r.(?) p.(=) g.148407060A>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 likely pathogenic r.(?) p.(Gln756*) g.148407029G>A - - - SH3TC2_000074 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - 0 - Johan den Dunnen
?/. - c.2339T>C ACMG: 3 r.(?) p.Leu780Pro g.148406956A>G - - - SH3TC2_000071 ACMG grading: PP5,PM2; reported in Zimo 2015. Neurogenetics 16: 33 - - - Germline - - - 0 - Andreas Laner
+/. - c.2339T>C pathogenic r.(?) p.(Leu780Pro) g.148406956A>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) g.148406803_148406804del - 2491_2492delAG - SH3TC2_000011 - PubMed: Senderek 2003 - - Germline - - - 0 - Johan den Dunnen
?/. - c.2527G>A VUS r.(?) p.(Gly843Arg) g.148406768C>T - - - SH3TC2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.2582G>A VUS r.(?) p.(Arg861Gln) g.148406713C>T - SH3TC2(NM_024577.3):c.2582G>A (p.R861Q) - SH3TC2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. 11 c.2633C>A - r.(?) p.(Ala878Asp) g.148406662G>T - - - SH3TC2_000012 - PubMed: Baets 2011 - - Germline - - - 0 - Johan den Dunnen
+/. 11 c.2642A>G - r.(?) p.(Asn881Ser) g.148406653T>C - - - SH3TC2_000013 - PubMed: Azzedine 2006 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.2642A>G likely pathogenic r.(?) p.(Asn881Ser) g.148406653T>C - SH3TC2(NM_024577.3):c.2642A>G (p.N881S) - SH3TC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.2642A>G - r.(?) p.(Asn881Ser) g.148406653T>C - - - SH3TC2_000013 - - - - Germline yes - - 0 - Justine Lerat
+?/. - c.2642A>T likely pathogenic r.(?) p.(Asn881Ile) g.148406653T>A - SH3TC2(NM_024577.3):c.2642A>T (p.N881I) - SH3TC2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.2680C>T pathogenic r.(?) p.(Pro894Ser) g.148406615G>A - SH3TC2(NM_024577.3):c.2680C>T (p.P894S) - SH3TC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 11 c.2710C>T - r.(?) p.(Arg904*) g.148406585G>A - - - SH3TC2_000014 - PubMed: Azzedine 2006 - rs80338931 Germline - - - 0 - Johan den Dunnen
+/. - c.2710C>T pathogenic r.(?) p.(Arg904*) g.148406585G>A - SH3TC2(NM_024577.3):c.2710C>T (p.R904*) - SH3TC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.2710C>T - r.(?) p.(Arg904*) g.148406585G>A g.149027022G>A - - SH3TC2_000014 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs80338931 Germline - 1/2794 individuals - 0 - Mohammed Faruq
Legend   « First ‹ Prev     1 2     Next › Last »