Full data view for 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.

282 entries on 3 pages. Showing entries 1 - 100.
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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.-110C>T r.(?) p.(=) Unknown - likely benign g.148442695G>A g.149063132G>A SH3TC2(NM_024577.4):c.-110C>T - SH3TC2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-23G>A r.(?) p.(=) Unknown - likely benign g.148442608C>T - SH3TC2(NM_024577.4):c.-23G>A - SH3TC2_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.28del r.(?) p.(Glu10Serfs*4) Unknown - pathogenic g.148442560del g.149062997del 28delG - SH3TC2_000017 - PubMed: Senderek 2003 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Senderek 2003 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.43del r.(?) p.(Arg15GlyfsTer19) Unknown - likely pathogenic g.148442545del g.149062982del SH3TC2(NM_024577.4):c.43delC (p.R15Gfs*19) - SH3TC2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.52G>A r.(?) p.(Gly18Ser) Unknown - VUS g.148442534C>T g.149062971C>T SH3TC2(NM_024577.4):c.52G>A (p.G18S) - SH3TC2_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.52+237G>A r.(=) p.(=) Unknown - benign g.148442297C>T - SH3TC2(NM_024577.3):c.52+237G>A - SH3TC2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53-161C>T r.(=) p.(=) Unknown - benign g.148431964G>A - SH3TC2(NM_024577.3):c.53-161C>T - SH3TC2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79A>G r.(?) p.(Thr27Ala) Unknown - likely benign g.148431777T>C g.149052214T>C SH3TC2(NM_024577.3):c.79A>G (p.T27A), SH3TC2(NM_024577.4):c.79A>G (p.T27A) - SH3TC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.79A>G r.(?) p.(Thr27Ala) Unknown - likely benign g.148431777T>C g.149052214T>C SH3TC2(NM_024577.3):c.79A>G (p.T27A), SH3TC2(NM_024577.4):c.79A>G (p.T27A) - SH3TC2_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.151+15_151+16del r.(=) p.(=) Unknown - benign g.148431690_148431691del - SH3TC2(NM_024577.4):c.151+15_151+16delAA - SH3TC2_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.152-64T>C r.(=) p.(=) Parent #1 - VUS g.148427616A>G g.149048053A>G - - SH3TC2_000032 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+?/. - c.152-7_152-4del r.(?) p.(?) Parent #1 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 - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat88 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
?/. - c.164C>T r.(?) p.(Ser55Phe) Unknown - VUS g.148427540G>A g.149047977G>A SH3TC2(NM_024577.4):c.164C>T (p.S55F) - SH3TC2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.211C>T r.(?) p.(Gln71*) Parent #1 - pathogenic g.148427493G>A g.149047930G>A - - SH3TC2_000108 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - - 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
+/. 3 c.217_227delinsCCAGTAA r.(?) p.(Ala73Profs*55) Unknown - pathogenic g.148427477_148427487delinsTTACTGG g.149047914_149047924delinsTTACTGG 217_227delGCTGCTCGGAGinsCCAGTAA - SH3TC2_000009 - PubMed: Azzedine 2006 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Azzedine 2006 - - - - - - - - - 1 Johan den Dunnen
?/. - c.233_239del r.(?) p.(Leu78HisfsTer49) Unknown - VUS g.148427468_148427474del g.149047905_149047911del SH3TC2(NM_024577.4):c.233_239delTCTGGGC (p.L78Hfs*49) - SH3TC2_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.279G>A r.(?) p.(Lys93=) Unknown - likely pathogenic g.148427425C>T g.149047862C>T SH3TC2(NM_024577.4):c.279G>A (p.K93=) - SH3TC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.279G>A r.(?) p.(Lys93=) Unknown - likely pathogenic g.148427425C>T g.149047862C>T SH3TC2(NM_024577.4):c.279G>A (p.K93=) - SH3TC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.283C>G r.(?) p.(Leu95Val) Unknown ACMG VUS g.148424198G>C g.149044635G>C p.L95V (c.283C>G) - SH3TC2_000137 - PubMed: Zhao 2018 - - Germline/De novo (untested) - 1/3 patients - - - DNA SEQ-NG - WES CMT Fam20198PatII1 PubMed: Zhao 2018 2-generation family, 1 affected, unaffected parents M no China China - - - - 1 Farina Kemper
?/. - c.284T>G r.(?) p.(Leu95Arg) Unknown - VUS g.148424197A>C g.149044634A>C - - SH3TC2_000151 rec (comp het); further healthy family members not tested PubMed: Westra 2019 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES NMD Pat161 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.287C>T r.(?) p.(Ser96Leu) Unknown - likely pathogenic (recessive) g.148424194G>A g.149044631G>A - - SH3TC2_000116 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. 4i c.385+1G>A r.spl p.? Both (homozygous) - likely pathogenic g.148424095C>T g.149044532C>T - - SH3TC2_000127 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-1739 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-?/. - c.385+4_385+8del r.spl? p.? Unknown - likely benign g.148424092_148424096del g.149044529_149044533del SH3TC2(NM_024577.4):c.385+4_385+8delTGGTA - SH3TC2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.386-2A>C r.spl? p.? Unknown - pathogenic g.148422402T>G - SH3TC2(NM_024577.4):c.386-2A>C - SH3TC2_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477T>A r.(?) p.(Ser159=) Unknown - benign g.148422309A>T g.149042746A>T SH3TC2(NM_024577.4):c.477T>A (p.S159=) - SH3TC2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.505T>C r.(?) p.(Tyr169His) Unknown - pathogenic g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Lupski 2010 - rs80359890 Germline - - - - - DNA SEQ - - CMT1 - PubMed: Lupski 2010 - - - - - - - - - 1 Johan den Dunnen
?/. - c.505T>C r.(?) p.(Tyr169His) Unknown - VUS g.148422281A>G g.149042718A>G SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505T>C r.(?) p.(Tyr169His) Unknown - VUS g.148422281A>G g.149042718A>G SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505T>C r.(?) p.Tyr169His Unknown 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 - - - - - DNA SEQ-NG - - - - - - M - Germany - - - - - 1 Andreas Laner
?/. - c.505T>C r.(?) p.(Tyr169His) Unknown - VUS g.148422281A>G g.149042718A>G SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505T>C r.(?) p.(Tyr169His) Parent #1 - VUS g.148422281A>G g.149042718A>G - - SH3TC2_000024 conflicting interpretations of pathogenicity; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80359890 Germline - 2/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.505T>C r.(?) p.(Tyr169His) Unknown 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 - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.505T>C r.(?) p.(Tyr169His) Unknown - pathogenic (recessive) g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Antoniadi 2015 - rs80359890 Germline - - - - - DNA SEQ - 56-gene neuropathy panel neuropathy Pat15 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.505T>C r.(?) p.(Tyr169His) Unknown - pathogenic (recessive) g.148422281A>G g.149042718A>G - - SH3TC2_000024 - PubMed: Antoniadi 2015 - rs80359890 Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 Pat16 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.505T>C r.(?) p.(Tyr169His) Unknown - VUS g.148422281A>G - SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.505T>C r.(?) p.(Tyr169His) Unknown - VUS g.148422281A>G - SH3TC2(NM_024577.3):c.505T>C (p.Y169H), SH3TC2(NM_024577.4):c.505T>C (p.Y169H) - SH3TC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.512G>A r.(?) p.(Gly171Glu) Unknown - benign g.148422274C>T g.149042711C>T SH3TC2(NM_024577.4):c.512G>A (p.G171E) - SH3TC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517C>A r.(?) p.(Leu173Met) Unknown - VUS g.148422269G>T g.149042706G>T - - SH3TC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+178C>T r.(=) p.(=) Unknown - benign g.148422079G>A - SH3TC2(NM_024577.3):c.529+178C>T - SH3TC2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.530-2A>G r.spl? p.? Unknown - pathogenic g.148421182T>C g.149041619T>C SH3TC2(NM_024577.4):c.530-2A>G - SH3TC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5i c.530-2A>T r.spl p.? Both (homozygous) - pathogenic g.148421182T>A g.149041619T>A - - SH3TC2_000028 - - - - Germline - - - - - DNA SEQ - - ? - - - M - (Germany) - - - - - 1 IMGAG
+/. - c.543C>A r.(?) p.(Cys181Ter) Unknown - pathogenic g.148421167G>T g.149041604G>T - - SH3TC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.558C>T r.(?) p.(Ser186=) Unknown - benign g.148421152G>A - SH3TC2(NM_024577.4):c.558C>T (p.S186=) - SH3TC2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.582A>T r.(?) p.(Glu194Asp) Unknown - VUS g.148421128T>A - SH3TC2(NM_024577.4):c.582A>T (p.E194D) - SH3TC2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.596C>T r.(?) p.(Thr199Ile) Unknown - pathogenic g.148421114G>A g.149041551G>A - - SH3TC2_000025 - PubMed: Lassuthova 2011 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Lassuthova 2011 - - - - - - - - - 1 Johan den Dunnen
-/. - c.645C>T r.(=) p.(=) Parent #1 - benign g.148421065G>A g.149041502G>A - - SH3TC2_000037 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.645C>T r.(?) p.(Ser215=) Unknown - benign g.148421065G>A g.149041502G>A SH3TC2(NM_024577.4):c.645C>T (p.S215=) - SH3TC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646G>A r.(?) p.(Glu216Lys) Unknown - VUS g.148421064C>T - SH3TC2(NM_024577.4):c.646G>A (p.E216K) - SH3TC2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660G>C r.(?) p.(=) Unknown - likely benign g.148421050C>G - SH3TC2(NM_024577.4):c.660G>C (p.V220=) - SH3TC2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.680G>A r.(?) p.(Arg227Gln) Unknown - pathogenic g.148421030C>T g.149041467C>T - - SH3TC2_000026 - PubMed: Lassuthova 2011 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Lassuthova 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.689T>C r.(?) p.(Val230Ala) Unknown - VUS g.148421021A>G g.149041458A>G SH3TC2(NM_024577.3):c.689T>C (p.(Val230Ala)), SH3TC2(NM_024577.4):c.689T>C (p.V230A) - SH3TC2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689T>C r.(?) p.(Val230Ala) Unknown - likely benign g.148421021A>G - SH3TC2(NM_024577.3):c.689T>C (p.(Val230Ala)), SH3TC2(NM_024577.4):c.689T>C (p.V230A) - SH3TC2_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.731+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.148420978C>T - - - SH3TC2_000139 - - - - Germline yes - - - - DNA SEQ blood - CMT4C - - - F - Egypt - - - - - 3 Sherifa Ahmed Hamed
+/. - c.805+2T>C r.spl? p.? Both (homozygous) ACMG pathogenic (recessive) g.148420165A>G g.149040602A>G - - SH3TC2_000134 ACMG: PVS1-PM2-PP3 PubMed: Ferese 2021 SCV001249582.3, SCV001388540.1 rs139052887 Germline - - - - - DNA SEQ-NG-I - - CMT4C 1251 PubMed: Ferese 2021 2-generation family, 1 affected, both parents are unaffected heterozygote carriers. In the article, the individual ID is given as 1251 and 125. M - Italy - >45y - - - 1 Yvet den Hartog
+?/. - c.819dup r.(?) p.(Lys274Ter) Unknown - likely pathogenic g.148418040dup g.149038477dup SH3TC2(NM_024577.4):c.819dupT (p.K274*) - SH3TC2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.819dup r.(?) p.(Lys274*) Both (homozygous) - pathogenic (recessive) g.148418040dup g.149038477dup 819dupT - SH3TC2_000091 - - - - Germline yes - - - - DNA SEQ blood - CMT4C - - - F - Egypt - - - - - 2 Sherifa Ahmed Hamed
+/. 8 c.819dup r.(?) p.(Lys274*) Both (homozygous) - pathogenic (recessive) g.148418040dup g.149038477dup 819dupT - SH3TC2_000091 - - - - Germline yes - - - - DNA SEQ blood - CMT4C - - - F - Egypt - - - - - 2 Sherifa Ahmed Hamed
?/. - c.894C>T r.(=) p.(=) Parent #1 - VUS g.148417965G>A g.149038402G>A - - SH3TC2_000036 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-?/. - c.894C>T r.(?) p.(=) Unknown - likely benign g.148417965G>A - SH3TC2(NM_024577.4):c.894C>T (p.I298=) - SH3TC2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.920G>A r.(?) p.(Trp307*) Unknown - pathogenic g.148417939C>T g.149038376C>T - - SH3TC2_000027 - PubMed: Azzedine 2006 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Azzedine 2006 - - - - - - - - - 1 Johan den Dunnen
+/. - c.920G>A r.(?) p.(Trp307Ter) Unknown - pathogenic g.148417939C>T g.149038376C>T SH3TC2(NM_024577.4):c.920G>A (p.W307*) - SH3TC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925A>G r.(?) p.(Ile309Val) Unknown - VUS g.148417934T>C g.149038371T>C - - SH3TC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.929G>A r.(?) p.(Gly310Glu) Parent #2 - likely pathogenic (recessive) g.148417930C>T g.149038367C>T p.G310E - SH3TC2_000133 - PubMed: Lee 2019 - - Germline - 4/198 patients - - - DNA SEQ-NG - WES CMT FC523 PubMed: Lee 2019 2-generation family, 1 affected, unaffected parents F no Korea Korea - - - - 1 Farina Kemper
+?/. - c.929G>A r.(?) p.(Gly310Glu) Maternal (confirmed) - likely pathogenic (recessive) g.148417930C>T g.149038367C>T p.G310E - SH3TC2_000133 - PubMed: Lee 2019 - - Germline - 4/198 patients - - - DNA SEQ-NG - WES CMT FC657 PubMed: Lee 2019 3-generation family, 1 affected, unaffected heterozygous carrier mother/sister/daughter M no Korea Korea - - - - 1 Farina Kemper
+?/. - c.929G>A r.(?) p.(Gly310Glu) Paternal (confirmed) - likely pathogenic (recessive) g.148417930C>T g.149038367C>T p.G310E - SH3TC2_000133 - PubMed: Lee 2019 - - Germline - 4/198 patients - - - DNA SEQ-NG - WES CMT FC703 PubMed: Lee 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Korea Korea - - - - 1 Farina Kemper
+?/. - c.929G>A r.(?) p.(Gly310Glu) Maternal (confirmed) - likely pathogenic (recessive) g.148417930C>T g.149038367C>T p.G310E - SH3TC2_000133 - PubMed: Lee 2019 - - Germline - 4/198 patients - - - DNA SEQ-NG - WES CMT FC1080 PubMed: Lee 2019 2-generation family, 1 affected, unaffected heterozygous carrier mother F no Korea Korea - - - - 1 Farina Kemper
+/. 8 c.931A>T r.(?) p.(Lys311Ter) Both (homozygous) - pathogenic g.148417928T>A g.149038365T>A - - SH3TC2_000126 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-3102 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
-/. - c.1002-119G>A r.(=) p.(=) Unknown - benign g.148411369C>T - SH3TC2(NM_024577.3):c.1002-119G>A - SH3TC2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1002-12G>T r.(=) p.(=) Unknown - likely benign g.148411262C>A g.149031699C>A SH3TC2(NM_024577.4):c.1002-12G>T - SH3TC2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1096A>G r.(?) p.(Thr366Ala) Unknown - VUS g.148411156T>C - SH3TC2(NM_024577.4):c.1096A>G (p.T366A) - SH3TC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1177+10G>A r.(=) p.(=) Unknown - likely benign g.148408230C>T - SH3TC2(NM_024577.4):c.1177+10G>A - SH3TC2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1178-1G>A r.spl? p.? Unknown - pathogenic g.148408118C>T g.149028555C>T SH3TC2(NM_024577.4):c.1178-1G>A - SH3TC2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1194T>C r.(?) p.(Gly398=) Unknown - benign g.148408101A>G g.149028538A>G SH3TC2(NM_024577.3):c.1194T>C (p.G398=), SH3TC2(NM_024577.4):c.1194T>C (p.G398=) - SH3TC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1194T>C r.(?) p.(Gly398=) Unknown - benign g.148408101A>G g.149028538A>G SH3TC2(NM_024577.3):c.1194T>C (p.G398=), SH3TC2(NM_024577.4):c.1194T>C (p.G398=) - SH3TC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1194T>C r.(?) p.(Gly398=) Unknown - benign g.148408101A>G - SH3TC2(NM_024577.3):c.1194T>C (p.G398=), SH3TC2(NM_024577.4):c.1194T>C (p.G398=) - SH3TC2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1195T>C r.(?) p.(Phe399Leu) Unknown - likely benign g.148408100A>G - SH3TC2(NM_024577.4):c.1195T>C (p.F399L) - SH3TC2_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1255del r.(?) p.(Ser419Profs*38) Parent #2 ACMG likely pathogenic g.148408040del g.149028477del 1255delT - SH3TC2_000076 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat92 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
+/. 11 c.1285G>T r.(?) p.(Glu429*) Unknown - pathogenic g.148408010C>A g.149028447C>A - - SH3TC2_000001 - PubMed: Lassuthova 2011 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Lassuthova 2011 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1298C>T r.(?) p.(Ser433Leu) Unknown - VUS g.148407997G>A g.149028434G>A SH3TC2(NM_024577.4):c.1298C>T (p.S433L) - SH3TC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299G>C r.(?) p.(Ser433=) Unknown - likely benign g.148407996C>G g.149028433C>G SH3TC2(NM_024577.4):c.1299G>C (p.S433=) - SH3TC2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1306T>A r.(?) p.(Ser436Thr) Unknown - likely pathogenic (dominant) g.148407989A>T g.149028426A>T - - SH3TC2_000115 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1322T>C r.(?) p.(Leu441Pro) Unknown - VUS g.148407973A>G - SH3TC2(NM_024577.4):c.1322T>C (p.L441P) - SH3TC2_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1350G>A r.(?) p.(Pro450=) Unknown - benign g.148407945C>T g.149028382C>T SH3TC2(NM_024577.3):c.1350G>A (p.P450=), SH3TC2(NM_024577.4):c.1350G>A (p.P450=) - SH3TC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1350G>A r.(?) p.(Pro450=) Unknown - benign g.148407945C>T - SH3TC2(NM_024577.3):c.1350G>A (p.P450=), SH3TC2(NM_024577.4):c.1350G>A (p.P450=) - SH3TC2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1387G>A r.(?) p.(Glu463Lys) Unknown - VUS g.148407908C>T g.149028345C>T SH3TC2(NM_024577.4):c.1387G>A (p.E463K) - SH3TC2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1402G>T r.(?) p.(Ala468Ser) Unknown - benign g.148407893C>A g.149028330C>A SH3TC2(NM_024577.4):c.1402G>T (p.A468S) - SH3TC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1402G>T r.(?) p.(Ala468Ser) Unknown - benign g.148407893C>A g.149028330C>A SH3TC2(NM_024577.4):c.1402G>T (p.A468S) - SH3TC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403C>T r.(?) p.(Ala468Val) Unknown - likely benign g.148407892G>A g.149028329G>A SH3TC2(NM_024577.3):c.1403C>T (p.A468V), SH3TC2(NM_024577.4):c.1403C>T (p.A468V) - SH3TC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403C>T r.(?) p.(Ala468Val) Unknown - likely benign g.148407892G>A g.149028329G>A SH3TC2(NM_024577.3):c.1403C>T (p.A468V), SH3TC2(NM_024577.4):c.1403C>T (p.A468V) - SH3TC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403C>T r.(?) p.(Ala468Val) Unknown - likely benign g.148407892G>A - SH3TC2(NM_024577.3):c.1403C>T (p.A468V), SH3TC2(NM_024577.4):c.1403C>T (p.A468V) - SH3TC2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1407del r.(?) p.(Ile470TyrfsTer54) Unknown - likely pathogenic g.148407892del g.149028329del SH3TC2(NM_024577.4):c.1407delC (p.I470Yfs*54) - SH3TC2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443C>T r.(?) p.(Asp481=) Unknown - likely benign g.148407852G>A g.149028289G>A SH3TC2(NM_024577.3):c.1443C>T (p.D481=), SH3TC2(NM_024577.4):c.1443C>T (p.D481=) - SH3TC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1443C>T r.(?) p.(Asp481=) Unknown - likely benign g.148407852G>A - SH3TC2(NM_024577.3):c.1443C>T (p.D481=), SH3TC2(NM_024577.4):c.1443C>T (p.D481=) - SH3TC2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1473C>T r.(?) p.(=) Unknown - benign g.148407822G>A - SH3TC2(NM_024577.4):c.1473C>T (p.F491=) - SH3TC2_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1520_1523del r.(?) p.(Phe507Trpfs*16) Unknown - likely pathogenic (recessive) g.148407774_148407777del g.149028211_149028214del c.1520_1523delTTGT - SH3TC2_000114 AR, biparental inheritance PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1573T>C r.(?) p.(Trp525Arg) Unknown - VUS g.148407722A>G g.149028159A>G - - SH3TC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1580A>C r.(?) p.(His527Pro) Unknown ACMG VUS g.148407715T>G g.149028152T>G - - SH3TC2_000097 ACMG grading: PP3, PM3, PM2 - - - Germline - - - - - DNA SEQ-NG-S - - - - - - M - - - - - - - 1 Andreas Laner
+?/? 11 c.1585C>T r.(?) p.(Arg529Cys) Both (homozygous) - likely pathogenic g.148407710G>A g.149028147G>A - - SH3TC2_000031 - - - - Germline yes 15/15 reads - - - DNA SEQ-NG-S, SEQ - - RP - - - F yes Libya - - - - - 1 Jill Urquhart
+/. - c.1586G>A r.(?) p.(Arg529His) Unknown - pathogenic g.148407709C>T g.149028146C>T SH3TC2(NM_024577.4):c.1586G>A (p.R529H) - SH3TC2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1587T>G r.(?) p.(Arg529=) Unknown - benign g.148407708A>C g.149028145A>C SH3TC2(NM_024577.3):c.1587T>G (p.R529=), SH3TC2(NM_024577.4):c.1587T>G (p.R529=) - SH3TC2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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