Full data view for gene MORC2

Information The variants shown are described using the NM_001303256.2 transcript reference sequence.

119 entries on 2 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.63A>G r.(?) p.(Thr21=) Unknown - benign g.31363813T>C g.30967827T>C MORC2(NM_001303256.3):c.63A>G (p.T21=) - MORC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.63A>G r.(?) p.(Thr21=) Unknown - likely benign g.31363813T>C - MORC2(NM_001303256.3):c.63A>G (p.T21=) - MORC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.68+4485C>T r.(=) p.(=) Unknown - likely benign g.31359323G>A - MORC2(NM_014941.3):c.-228-3C>T - MORC2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.70A>G r.(?) p.(Thr24Ala) Unknown - likely pathogenic g.31354679T>C g.30958693T>C MORC2(NM_001303256.3):c.70A>G (p.T24A) - MORC2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.71C>T r.(?) p.(Thr24Ile) Unknown ACMG pathogenic (dominant) g.31354678G>A g.30958692G>A NM_001303256.1:c.71C>T (Thr24Ile) - MORC2_000046 ACMG PS2, PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV001134972.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat1 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.79G>A r.(?) p.(Glu27Lys) Unknown - VUS g.31354670C>T g.30958684C>T MORC2(NM_001303256.2):c.79G>A (p.E27K) - MORC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown ACMG pathogenic (dominant) g.31354670C>T g.30958684C>T NM_001303256.1:c.79G>A (Glu27Lys) - MORC2_000003 ACMG PS2 (x4), PS3, PM2, PP4, BP PubMed: Sacoto 2020 ClinVar-SCV001134974.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat2 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown ACMG pathogenic (dominant) g.31354670C>T g.30958684C>T NM_001303256.1:c.79G>A (Glu27Lys) - MORC2_000003 ACMG PS2 (x4), PS3, PM2, PP4, BP PubMed: Sacoto 2020 ClinVar-SCV001134974.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat3 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown ACMG pathogenic (dominant) g.31354670C>T g.30958684C>T NM_001303256.1:c.79G>A (Glu27Lys) - MORC2_000003 ACMG PS2 (x4), PS3, PM2, PP4, BP PubMed: Sacoto 2020 ClinVar-SCV001134974.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat4 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown ACMG pathogenic (dominant) g.31354670C>T g.30958684C>T NM_001303256.1:c.79G>A (Glu27Lys) - MORC2_000003 ACMG PS2 (x4), PS3, PM2, PP4, BP PubMed: Sacoto 2020 ClinVar-SCV001134974.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT Pat5 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown ACMG pathogenic (dominant) g.31354670C>T g.30958684C>T NM_001303256.1:c.79G>A (Glu27Lys) - MORC2_000003 ACMG PS2 (x4), PS3, PM2, PP4, BP PubMed: Sacoto 2020 ClinVar-SCV001134974.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat6 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.79G>A r.(?) p.(Glu27Lys) Unknown - pathogenic g.31354670C>T - MORC2(NM_001303256.2):c.79G>A (p.E27K) - MORC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.79G>A r.(?) p.(Glu27Lys) Unknown - likely pathogenic g.31354670C>T - MORC2(NM_001303256.2):c.79G>A (p.E27K) - MORC2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.96C>T r.(?) p.(Ala32=) Unknown - benign g.31354653G>A g.30958667G>A MORC2(NM_001303256.3):c.96C>T (p.A32=) - MORC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.158-12del r.(=) p.(=) Unknown - benign g.31346443del g.30950457del MORC2(NM_014941.3):c.-29-12delC - MORC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.226+18T>C r.(=) p.(=) Unknown - benign g.31346345A>G g.30950359A>G MORC2(NM_014941.3):c.40+18T>C - MORC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.229G>C r.(?) p.(Asp77His) Unknown ACMG likely pathogenic g.31345826C>G g.30949840C>G - - MORC2_000068 - - - - De novo - - - - - DNA SEQ-NG-I peripheral blood WES DD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
-/. - c.234T>G r.(?) p.(Ala78=) Unknown - benign g.31345821A>C g.30949835A>C MORC2(NM_014941.3):c.48T>G (p.A16=) - MORC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.260C>T r.(?) p.(Ser87Leu) Unknown - pathogenic (dominant) g.31345795G>A g.30949809G>A 260C>T (Ser87Leu) - MORC2_000027 - PubMed: Hyun 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT FC171 PubMed: Hyun 2016, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - Korea - - - - - 1 Johan den Dunnen
+/. - c.260C>T r.(?) p.(Ser87Leu) Unknown - pathogenic (dominant) g.31345795G>A g.30949809G>A 260C>T (Ser87Leu) - MORC2_000027 - PubMed: Hyun 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT FC288 PubMed: Hyun 2016, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - Korea - - - - - 1 Johan den Dunnen
+/. - c.260C>T r.(?) p.(Ser87Leu) Unknown ACMG pathogenic (dominant) g.31345795G>A g.30949809G>A 260C>T (Ser87Leu) - MORC2_000027 ACMG PS2 (x3), PS3, PM2, PP3, PP4 PubMed: Sevilla 2016 ClinVar-SCV000618293.2 - Germline/De novo (untested) - - - - - DNA SEQ - - CMT FamCMT438 PubMed: Sevilla 2016, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - Spain - - - - - 1 Johan den Dunnen
+/. - c.260C>T r.(?) p.(Ser87Leu) Unknown ACMG pathogenic (dominant) g.31345795G>A g.30949809G>A NM_001303256.1:c.260C>T (Ser87Leu) - MORC2_000027 ACMG PS2 (x3), PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000618293.2 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat7 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.260C>T r.(?) p.(Ser87Leu) Unknown ACMG pathogenic (dominant) g.31345795G>A g.30949809G>A NM_001303256.1:c.260C>T (Ser87Leu) - MORC2_000027 ACMG PS2 (x3), PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000618293.2 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat8 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.263C>T r.(?) p.(Ala88Val) Unknown ACMG likely pathogenic (dominant) g.31345792G>A g.30949806G>A NM_001303256.1:c.263C>T (Ala88Val) - MORC2_000045 ACMG PS2, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000999384.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat9 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.286C>G r.(?) p.(Gln96Glu) Unknown - VUS g.31345769G>C g.30949783G>C NM_001303256.1:c.286C>G (Q96E) - MORC2_000037 variant found in control chromosomes PubMed: Albulym 2016 - - Germline - - - - - DNA SEQ - - CMT ? PubMed: Albulym 2016 sporadic patient - - Austria - - - - - 1 Johan den Dunnen
?/. - c.286C>G r.(?) p.(Gln96Glu) Unknown - VUS g.31345769G>C - MORC2(NM_001303256.3):c.286C>G (p.(Gln34Glu)) - MORC2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.328C>T r.(?) p.(Arg110Cys) Unknown - likely pathogenic g.31342426G>A - - - MORC2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.378C>G r.(?) p.(Thr126=) Unknown - benign g.31342376G>C g.30946389G>C MORC2(NM_014941.3):c.192C>G (p.T64=) - MORC2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394C>T r.(?) p.(Arg132Cys) Unknown ACMG pathogenic (dominant) g.31342360G>A g.30946373G>A NM_001303256.1:c.394C>T (Arg132Cys) - MORC2_000044 ACMG PS2 (x3), PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000571490.3 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat10 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.394C>T r.(?) p.(Arg132Cys) Unknown ACMG pathogenic (dominant) g.31342360G>A g.30946373G>A NM_001303256.1:c.394C>T (Arg132Cys) - MORC2_000044 ACMG PS2 (x3), PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000571490.3 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat11 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.394C>T r.(?) p.(Arg132Cys) Unknown ACMG pathogenic (dominant) g.31342360G>A g.30946373G>A NM_001303256.1:c.394C>T (Arg132Cys) - MORC2_000044 ACMG PS2 (x3), PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000571490.3 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat12 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.394C>T r.(?) p.(Arg132Cys) Unknown ACMG pathogenic (dominant) g.31342360G>A g.30946373G>A NM_001303256.1:c.394C>T (Arg132Cys) - MORC2_000044 ACMG PS2 (x3), PS3, PM2, PP3, PP4; father not available PubMed: Sacoto 2020 ClinVar-SCV000571490.3 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT Pat13 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
+/. - c.394C>T r.(?) p.(Arg132Cys) Unknown - pathogenic g.31342360G>A - MORC2(NM_014941.1):c.208C>T (p.(Arg70Cys)) - MORC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394C>T r.(?) p.(Arg132Cys) Unknown - pathogenic g.31342360G>A - MORC2(NM_014941.1):c.208C>T (p.(Arg70Cys)) - MORC2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.395G>T r.(?) p.(Arg132Leu) Unknown - pathogenic (dominant) g.31342359C>A g.30946372C>A Arg132Leu - MORC2_000028 - PubMed: Hyun 2016 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT FC664 PubMed: Hyun 2016, PubMed: Sacoto 2020 4-generation family, 1 affected, unaffected parents M - Korea - - - - - 1 Johan den Dunnen
?/. - c.480C>A r.(?) p.(Asp160Glu) Unknown - VUS g.31338205G>T - MORC2(NM_001303256.3):c.480C>A (p.(Asp160Glu)), MORC2(NM_014941.3):c.294C>A (p.D98E) - MORC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.480C>A r.(?) p.(Asp160Glu) Unknown - likely benign g.31338205G>T - MORC2(NM_001303256.3):c.480C>A (p.(Asp160Glu)), MORC2(NM_014941.3):c.294C>A (p.D98E) - MORC2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.626A>G r.(?) p.(Asn209Ser) Parent #1 - likely benign g.31337950T>C g.30941963T>C - - MORC2_000024 - PubMed: Ando 2017 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Ando 2017 - - - Japan - - - - - 1 Johan den Dunnen
-?/. - c.683C>T r.(?) p.(Thr228Met) Unknown - likely benign g.31337893G>A g.30941906G>A - - MORC2_000025 - PubMed: Ando 2017 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Ando 2017 - - - Japan - - - - - 1 Johan den Dunnen
-/. - c.699-20T>C r.(=) p.(=) Unknown - benign g.31337565A>G g.30941578A>G MORC2(NM_014941.3):c.513-20T>C - MORC2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.707A>G r.(?) p.(Glu236Gly) Maternal (confirmed) - pathogenic (dominant) g.31337537T>C g.30941550T>C 707A>G (E236G) - MORC2_000030 - PubMed: Albulym 2016 - - Germline - - - - - DNA SEQ - - CMT FamWUNM0058 PubMed: Albulym 2016 4-generation family, affected mother/son F;M - United States - - - - - 2 Johan den Dunnen
+/. - c.707A>G r.(?) p.(Glu236Gly) Unknown - pathogenic (dominant) g.31337537T>C g.30941550T>C 707A>G (E236G) - MORC2_000030 - PubMed: Albulym 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT FamWUNM0251 PubMed: Albulym 2016 3-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
?/. - c.743A>G r.(?) p.(Tyr248Cys) Unknown - VUS g.31337501T>C g.30941514T>C NM_001303256.1:c.743A>G (Y248C) - MORC2_000035 - PubMed: Albulym 2016 - - Germline no - - - - DNA SEQ - - CMT CMT791 PubMed: Albulym 2016 family - - - - - - - - 1 Johan den Dunnen
+?/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - likely pathogenic g.31337490G>A g.30941503G>A MORC2(NM_014941.3):c.568C>T (p.R190W) - MORC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown ACMG pathogenic g.31337490G>A g.30941503G>A - - MORC2_000002 Sevilla et al. 2016. Brain 139: 62 - - rs864309503 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (dominant) g.31337490G>A g.30941503G>A - - MORC2_000002 - PubMed: Sevilla 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES CMT FamCMT237 PubMed: Sevilla 2016 4-generation family, 7 affected (3F, 4M) F;M - Spain - - - - - 7 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A - - MORC2_000002 - PubMed: Sevilla 2016 - - De novo - - - - - DNA SEQ - - CMT FamCMT197 PubMed: Sevilla 2016 2-generation family, 1 affected, unaffected non-carrier parents F no Spain - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 754C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat1 PubMed: Ando 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 755C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat2 PubMed: Ando 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 756C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat3 PubMed: Ando 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 757C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat4 PubMed: Ando 2017 - F - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 758C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat5 PubMed: Ando 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 759C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline - - - - - DNA SEQ - - CMT Pat6 PubMed: Ando 2017 family M - Japan - - - - - 2 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 760C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat7 PubMed: Ando 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 761C>T (R190W) - MORC2_000002 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Pat8 PubMed: Ando 2017 - M - Japan - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A - - MORC2_000002 - PubMed: Hyun 2016 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT FC456 PubMed: Hyun 2016 2-generation family, 1 affected, unaffected non-carrier parents M - Korea - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Parent #1 - pathogenic (dominant) g.31337490G>A g.30941503G>A 754C>T (Arg252Trp) - MORC2_000002 - PubMed: Albulym 2016 - - Germline yes - - - - DNA arraySNP, SEQ, SEQ-NG - WES CMT FamCMT105 PubMed: Albulym 2016 5-generation family, 20 affected (12F, 8M), unaffected non-carrier parents F;M - Australia - - - - - 20 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 754C>T (Arg252Trp) - MORC2_000002 - PubMed: Albulym 2016 - - De novo - - - - - DNA SEQ - - CMT FamCMT895 PubMed: Albulym 2016 4-generation family, 1 affected, unaffected non-carrier parents F yes Australia - - - - - 1 Johan den Dunnen
+/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - pathogenic (dominant) g.31337490G>A g.30941503G>A 754C>T (Arg252Trp) - MORC2_000002 - PubMed: Albulym 2016 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT FamWUNM0263 PubMed: Albulym 2016 4-generation family, 1 affected, unaffected parents M - United States - - - - - 1 Johan den Dunnen
+?/. - c.754C>T r.(?) p.(Arg252Trp) Unknown - likely pathogenic g.31337490G>A - MORC2(NM_014941.3):c.568C>T (p.R190W) - MORC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.798G>C r.(?) p.(Arg266Ser) Unknown ACMG pathogenic (dominant) g.31337446C>G g.30941459C>G NM_001303256.1:c.798G>C (Arg266Ser) - MORC2_000043 ACMG PS2, PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000573276.4 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat14 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.848G>A r.(?) p.(Arg283His) Unknown - VUS g.31336801C>T g.30940814C>T NM_001303256.1:c.848G>A (R283H) - MORC2_000031 - PubMed: Albulym 2016 - - Germline no - - - - DNA SEQ - - CMT CMT102 PubMed: Albulym 2016 family - - - - - - - - 1 Johan den Dunnen
?/. - c.860G>T r.(?) p.(Arg287Leu) Unknown - VUS g.31336789C>A g.30940802C>A MORC2(NM_014941.3):c.674G>T (p.R225L) - MORC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.917C>T r.(?) p.(Ala306Val) Unknown - VUS g.31336016G>A - MORC2(NM_014941.1):c.731C>T (p.(Ala244Val)) - MORC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.966A>T r.(?) p.(Gly322=) Unknown - benign g.31335967T>A g.30939980T>A MORC2(NM_014941.3):c.780A>T (p.G260=) - MORC2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974C>T r.(?) p.(Thr325Met) Unknown - VUS g.31335959G>A - MORC2(NM_014941.1):c.788C>T (p.(Thr263Met)) - MORC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1118A>G r.(?) p.(Asn373Ser) Unknown - VUS g.31334148T>C - MORC2(NM_014941.1):c.932A>G (p.(Asn311Ser)) - MORC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1164C>A r.(?) p.(Ser388Arg) Unknown - pathogenic g.31334102G>T g.30938115G>T - - MORC2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1164C>G r.(?) p.(Ser388Arg) Unknown ACMG likely pathogenic (dominant) g.31334102G>C g.30938115G>C NM_001303256.1:c.1164C>G (Ser388Arg) - MORC2_000042 ACMG PS2, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV001134979.1 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat15 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.1164C>G r.(?) p.(Ser388Arg) Unknown ACMG likely pathogenic (dominant) g.31334102G>C g.30938115G>C NM_001303256.1:c.1164C>G (Ser388Arg) - MORC2_000042 ACMG PS2, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV001134979.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT Pat16 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1167A>C r.(?) p.(Arg389=) Unknown - likely benign g.31334099T>G - MORC2(NM_014941.3):c.981A>C (p.R327=) - MORC2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1181A>G r.(?) p.(Tyr394Cys) Unknown - VUS g.31334085T>C g.30938098T>C 1181A>G (Tyr394Cys) - MORC2_000029 - PubMed: Ando 2017 - - Germline/De novo (untested) - - - - - DNA SEQ - - CMT Fam3Pat10 PubMed: Ando 2017, PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.1181A>G r.(?) p.(Tyr394Cys) Unknown ACMG pathogenic (dominant) g.31334085T>C g.30938098T>C NM_001303256.1:c.1181A>G (Tyr394Cys) - MORC2_000029 ACMG PS2 (x2), PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000589765.2 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat17 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.1181A>G r.(?) p.(Tyr394Cys) Unknown ACMG pathogenic (dominant) g.31334085T>C g.30938098T>C NM_001303256.1:c.1181A>G (Tyr394Cys) - MORC2_000029 ACMG PS2 (x2), PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV000589765.2 - De novo - - - - - DNA SEQ, SEQ-NG - WES CMT Pat18 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.1181A>G r.(?) p.(Tyr394Cys) Unknown - VUS g.31334085T>C - MORC2(NM_014941.3):c.995A>G (p.Y332C) - MORC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1181A>G r.(?) p.(Tyr394Cys) Unknown - pathogenic (dominant) g.31334085T>C g.30938098T>C NM_014941.1:c.995A>G - MORC2_000029 - PubMed: Zech 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES DYT CB-DYS-130 PubMed: Zech 2020 2-generation family, 1 affected, unaffected non-carrier parents - - - - - - - - 1 Johan den Dunnen
+/. - c.1199A>G r.(?) p.(Gln400Arg) Unknown - pathogenic (dominant) g.31334067T>C g.30938080T>C - - MORC2_000041 - PubMed: Ando 2017 - - Germline - - - - - DNA SEQ - - CMT Pat9 PubMed: Ando 2017 family M - Japan - - - - - 2 Johan den Dunnen
+?/. - c.1220G>A r.(?) p.(Cys407Tyr) Unknown - likely pathogenic (dominant) g.31333951C>T g.30937964C>T - - MORC2_000040 - PubMed: Ando 2017 - - De novo - - - - - DNA SEQ - - CMT Fam2Pat11 PubMed: Ando 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
?/. - c.1235_1243dup r.(?) p.(Gly412_Val414dup) Unknown - VUS g.31333938_31333946dup - - - MORC2_000070 - - - rs1555938722 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1237G>T r.(?) p.(Val413Phe) Maternal (confirmed) ACMG likely pathogenic (dominant) g.31333934C>A g.30937947C>A NM_001303256.1:c.1237G>T (Val413Phe) - MORC2_000039 ACMG PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV001134978.1 - Germline - - - - - DNA SEQ, SEQ-NG - WES CMT Pat19 PubMed: Sacoto 2020 family F - - - - - - - 2 Johan den Dunnen
+?/. - c.1237G>T r.(?) p.(Val413Phe) Unknown ACMG likely pathogenic (dominant) g.31333934C>A g.30937947C>A NM_001303256.1:c.1237G>T (Val413Phe) - MORC2_000039 ACMG PS3, PM2, PP3, PP4 PubMed: Sacoto 2020 ClinVar-SCV001134978.1 - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES CMT Pat20 PubMed: Sacoto 2020 2-generation family, 1 affected, unaffected parents F - - - - - - - 1 Johan den Dunnen
?/. - c.1270A>G r.(?) p.(Thr424Ala) Unknown - VUS g.31333901T>C - MORC2(NM_001303256.3):c.1270A>G (p.T424A) - MORC2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1292C>T r.(?) p.(Ala431Val) Unknown - likely pathogenic (dominant) g.31333879G>A g.30937892G>A - - MORC2_000038 - PubMed: Ando 2017 - - De novo - - - - - DNA SEQ - - CMT Fam3Pat12 PubMed: Ando 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.1292C>T r.(?) p.(Ala431Val) Unknown - likely pathogenic (dominant) g.31333879G>A g.30937892G>A - - MORC2_000038 - PubMed: Ando 2017 - - De novo - - - - - DNA SEQ - - CMT Fam4Pat13 PubMed: Ando 2017 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
?/. - c.1330G>A r.(?) p.(Gly444Arg) Unknown - VUS g.31333841C>T g.30937854C>T NM_001303256.1:c.1330C>T (G444R) - MORC2_000036 variant found in control chromosomes PubMed: Albulym 2016 - - Germline - - - - - DNA SEQ - - CMT Austrian-1 PubMed: Albulym 2016 family - - - - - - - - 1 Johan den Dunnen
+?/. - c.1330G>A r.(?) p.(Gly444Arg) Unknown - pathogenic g.31333841C>T g.30937854C>T - - MORC2_000036 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - CMT2Z Fam1 - - - no France - - - - - 2 Arnaud Jacquier
+?/. - c.1338C>A r.(?) p.(His446Gln) Unknown - pathogenic g.31333833G>T g.30937846G>T - - MORC2_000051 - - - - De novo - - - - - DNA SEQ - - CMT2Z Fam2 - - F no France - - - - - 1 Arnaud Jacquier
?/. - c.1396G>C r.(?) p.(Asp466His) Unknown - VUS g.31333672C>G g.30937685C>G NM_001303256.1:c.1396G>C (D456H) - MORC2_000033 - PubMed: Albulym 2016 - - Germline no - - - - DNA SEQ - - CMT CMT739 PubMed: Albulym 2016 family - - - - - - - - 1 Johan den Dunnen
-?/. - c.1413C>G r.(?) p.(Leu471=) Unknown - likely benign g.31333655G>C - MORC2(NM_014941.3):c.1227C>G (p.L409=) - MORC2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1437A>G r.(?) p.(Pro479=) Unknown - benign g.31333631T>C g.30937644T>C MORC2(NM_014941.3):c.1251A>G (p.P417=) - MORC2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1447C>G r.(?) p.(Leu483Val) Unknown - VUS g.31333621G>C - MORC2(NM_014941.3):c.1261C>G (p.L421V) - MORC2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1473G>A r.(?) p.(Met491Ile) Unknown - likely benign g.31333595C>T g.30937608C>T - - MORC2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499-9T>C r.(=) p.(=) Unknown - likely benign g.31333033A>G g.30937046A>G MORC2(NM_001303256.3):c.1499-9T>C, MORC2(NM_014941.3):c.1313-9T>C - MORC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499-9T>C r.(=) p.(=) Unknown - likely benign g.31333033A>G - MORC2(NM_001303256.3):c.1499-9T>C, MORC2(NM_014941.3):c.1313-9T>C - MORC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1499-3C>T r.spl? p.? Unknown - likely benign g.31333027G>A - MORC2(NM_014941.3):c.1313-3C>T - MORC2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1603C>T r.(?) p.(Arg535Trp) Unknown - VUS g.31332920G>A - MORC2(NM_014941.1):c.1417C>T (p.(Arg473Trp)) - MORC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1737+4C>T r.spl? p.? Unknown - benign g.31332494G>A - MORC2(NM_014941.3):c.1551+4C>T - MORC2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1753C>T r.(?) p.(Arg585Cys) Unknown - VUS g.31331294G>A g.30935307G>A NM_001303256.1:c.1753C>T (R585C) - MORC2_000032 - PubMed: Albulym 2016 - - Germline no - - - - DNA SEQ - - CMT CMT131 PubMed: Albulym 2016 family - - - - - - - - 1 Johan den Dunnen
-?/. - c.1768C>T r.(?) p.(Leu590=) Unknown - likely benign g.31331279G>A g.30935292G>A MORC2(NM_014941.3):c.1582C>T (p.L528=) - MORC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848C>T r.(?) p.(Pro616=) Unknown - likely benign g.31331113G>A - MORC2(NM_014941.3):c.1662C>T (p.P554=) - MORC2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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