Full data view for gene SMC1A

Information The variants shown are described using the NM_006306.2 transcript reference sequence.

179 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.-231639_109+108dup r.0 p.0 Maternal (confirmed) - pathogenic g.53449333_53681188dup - - - HSD17B10_000011 increased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-?/. 1 c.-19C>T r.(=) p.(=) Maternal (inferred) - likely benign g.53449568G>A g.53422619G>A - - SMC1A_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 1 c.-19C>T r.(=) p.(=) Maternal (inferred) - likely benign g.53449568G>A g.53422619G>A - - SMC1A_000043 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.-19C>T r.(?) p.(=) Unknown - benign g.53449568G>A g.53422619G>A SMC1A(NM_006306.4):c.-19C>T - SMC1A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.-19C>T r.(?) p.(=) Parent #1 - VUS g.53449568G>A g.53422619G>A - - SMC1A_000012 - - - rs1264011 Germline - 0.14-0.64 - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.31A>T r.(?) p.(Asn11Tyr) Unknown - likely pathogenic g.53449519T>A g.53422570T>A - - SMC1A_000030 not in >200 control chromosomes Redeker (unpublished) - - De novo - - - - - DNA SEQ - - CDLS - Redeker (unpublished) - F - Netherlands - - - - - 1 Bert Redeker
?/? 1 c.82A>C r.(?) p.Thr28Pro Parent #1 - VUS g.53449468T>G g.53422519T>G - - SMC1A_000013 - - - rs34530151 Germline - 0.00-0.10 - - - - - - - - - - - - - - - - - - - - -
+?/. - c.92T>C r.(?) p.(Ile31Thr) Unknown - likely pathogenic g.53449458A>G g.53422509A>G - - RIBC1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 1i c.109+104dup r.(=) p.(=) Maternal (inferred) - likely benign g.53449338dup g.53422386dup - - SMC1A_000044 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 1i c.109+104dup r.(=) p.(=) Maternal (inferred) - likely benign g.53449338dup g.53422386dup - - SMC1A_000044 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.109+104dup r.(=) p.(=) Unknown - benign g.53449338dup g.53422386dup SMC1A(NM_006306.3):c.109+103dupC - RIBC1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109+575A>C r.(=) p.(=) Unknown - likely benign g.53448866T>G - SMC1A(NM_001281463.1):c.22A>C (p.T8P) - RIBC1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.109+582A>C r.(=) p.(=) Unknown - likely benign g.53448859T>G - SMC1A(NM_001281463.1):c.29A>C (p.(His10Pro)) - RIBC1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.110G>T r.(?) p.(Gly37Val) Unknown - likely pathogenic (dominant) g.53442118C>A g.53415169C>A G110T - SMC1A_000131 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS SMC1A-Pat1 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/. 2 c.116C>G r.(?) p.(Ser39*) Unknown - pathogenic (dominant) g.53442112G>C g.53415163G>C - - SMC1A_000130 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS, MYOP SMC1A-Pat2 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 2 c.121C>T r.(?) p.(Leu41Phe) Maternal (confirmed) - likely pathogenic g.53442107G>A g.53415158G>A C121T - SMC1A_000120 - PubMed: Yuan 2019 - - Germline - - - - - DNA SEQ-NG - WES CDLS FamBAB4135 PubMed: Yuan 2019 2-generation family, 2 affected, unaffected heterozygous mother M - United States - - - - - 2 Johan den Dunnen
+?/. 2 c.121C>T r.(?) p.(Leu41Phe) Maternal (confirmed) - likely pathogenic g.53442107G>A g.53415158G>A C121T - SMC1A_000120 - PubMed: Yuan 2019 - - Germline - - - - - DNA SEQ-NG - WES CDLS FamBAB4136 PubMed: Yuan 2019 sibling M - United States - - - - - 1 Johan den Dunnen
+?/. 2 c.128A>T r.(?) p.(Asp43Val) Unknown - likely pathogenic (dominant) g.53442100T>A g.53415151T>A - - SMC1A_000129 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS SMC1A-Pat3 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 2 c.140T>G r.(?) p.(Phe47Cys) Unknown - likely pathogenic (dominant) g.53442088A>C g.53415139A>C - - SMC1A_000128 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS, CF SMC1A-Pat4 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
+/? 2 c.173_187del r.(?) p.(Val58_Arg62del) Unknown - pathogenic g.53442049_53442063del g.53415100_53415114del 173del15 - SMC1A_000005 not in 220 control chromosomes PubMed: Deardorff 2007, OMIM:var0003 - - De novo - - - - - DNA SEQ - - CDLS 16604071.3P PubMed: Deardorff 2007 - F - - - - - - - 1 Johan den Dunnen
+/+ 2 c.173_187del r.(?) p.(Val58_Arg62del) Unknown - pathogenic g.53442049_53442063del g.53415100_53415114del - - SMC1A_000005 - PubMed: Gervasini 2013 - - De novo - - - - - DNA SEQ - - CDLS Gervasini 2 PubMed: Gervasini 2013 - F - - North Africa - - - - 1 Bert Redeker
+?/. 2 c.298G>C r.(?) p.(Gly100Arg) Unknown - likely pathogenic (dominant) g.53441930C>G g.53414981C>G - - SMC1A_000127 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES ?, CDLS SMC1A-Pat5 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.372G>C r.(?) p.(Leu124Phe) Unknown - likely benign g.53441746C>G - SMC1A(NM_001281463.1):c.306G>C (p.L102F), SMC1A(NM_006306.4):c.372G>C (p.L124F) - SMC1A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.372G>C r.(?) p.(Leu124Phe) Unknown - likely benign g.53441746C>G - SMC1A(NM_001281463.1):c.306G>C (p.L102F), SMC1A(NM_006306.4):c.372G>C (p.L124F) - SMC1A_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.397T>G r.(?) p.(Phe133Val) Unknown - pathogenic g.53441721A>C g.53414772A>C - - SMC1A_000006 not in 220 control chromosomes PubMed: Deardorff 2007 - - De novo - - - - - DNA SEQ - - CDLS 16604071.4P PubMed: Deardorff 2007 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.412-10C>T r.(=) p.(=) Unknown - likely benign g.53440395G>A g.53413445G>A SMC1A(NM_006306.3):c.412-10C>T - SMC1A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.421G>A r.(?) p.(Glu141Lys) Unknown - pathogenic g.53440376C>T g.53413426C>T - - SMC1A_000020 not in >220 control chromosomes PubMed: Liu 2009 - - De novo - - - - - DNA SEQ - - CDLS 19701948-Pat3 PubMed: Liu 2009 - F - - - - - - - 1 Bert Redeker
?/. - c.494C>T r.(?) p.(Ala165Val) Unknown - VUS g.53440303G>A - SMC1A(NM_001281463.1):c.428C>T (p.A143V) - SMC1A_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.557A>G r.(?) p.(Tyr186Cys) Unknown - likely pathogenic g.53440240T>C g.53413290T>C - - SMC1A_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.563G>A r.(?) p.(Arg188His) Unknown - likely pathogenic g.53440234C>T g.53413284C>T - - SMC1A_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.586C>T r.(?) p.(Arg196Cys) Unknown - likely pathogenic (dominant) g.53440211G>A g.53413261G>A - - SMC1A_000126 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS, MD SMC1A-Pat6 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.586C>T r.(?) p.(Arg196Cys) Unknown ACMG pathogenic (dominant) g.53440211G>A g.53413261G>A - - SMC1A_000126 ACMG: PS2_MOD, PS4_MOD, PM5, PP3_MOD, PM2_SUP, PP2 PMID: 30158690 VCV000159961.6 - Germline ? - - - - DNA SEQ-NG-I Blood - CDLS2 277705 - - F ? India - - - - - 1 Andreas Laner
+/? 4 c.587G>A r.(?) p.(Arg196His) Parent #1 - pathogenic g.53440210C>T g.53413260C>T - - SMC1A_000007 not in 220 control chromosomes PubMed: Deardorff 2007 - - De novo - - - - - DNA SEQ - - CDLS 16604071.5P PubMed: Deardorff 2007 - M - - - - - - - 1 Johan den Dunnen
+/+ 4 c.587G>A r.(?) p.(Arg196His) Maternal (inferred) - pathogenic g.53440210C>T g.53413260C>T - - SMC1A_000016 not in 120 control chromosomes PubMed: Borck 2007 - - De novo - - - - - DNA SEQ - - CDLS 17221863-Pat2 PubMed: Borck 2007 - M - (France) - - - - - 1 Bert Redeker
+/+? 4 c.587G>A r.(?) p.(Arg196His) Unknown - pathogenic g.53440210C>T g.53413260C>T 587G>A - SMC1A_000007 - PubMed: Pié 2010 - - De novo - - - - - DNA SEQ - - CDLS Pié C2 PubMed: Pié 2010 - M - Romania - - - - - 1 Bert Redeker
?/. - c.598A>C r.(?) p.(Lys200Gln) Unknown - VUS g.53440199T>G g.53413249T>G SMC1A(NM_001281463.1):c.532A>C (p.K178Q) - SMC1A_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.607A>G r.(?) p.(Lys203Glu) Unknown ACMG likely pathogenic g.53440190T>C g.53413240T>C - - SMC1A_000133 ACMG PS2,PM2,PM6,PP3 PubMed: Chuan 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES epilepsy Pat15 PubMed: Chuan 2022 - F - China - - - - - 1 Johan den Dunnen
+/. 5 c.655del r.(?) p.(Ala219Leufs*45) Unknown - pathogenic (dominant) g.53440051del g.53413101del - - SMC1A_000125 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS SMC1A-Pat7 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.699G>A r.(?) p.(=) Unknown - likely benign g.53440005C>T - SMC1A(NM_001281463.1):c.633G>A (p.V211=) - SMC1A_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.707A>G r.(?) p.(Glu236Gly) Unknown - VUS g.53439997T>C g.53413047T>C SMC1A(NM_001281463.1):c.641A>G (p.(Glu214Gly)) - SMC1A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.707A>G r.(?) p.(Glu236Gly) Unknown - likely benign g.53439997T>C g.53413047T>C SMC1A(NM_001281463.1):c.641A>G (p.(Glu214Gly)) - SMC1A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.725T>C r.(?) p.(Leu242Pro) Unknown - likely pathogenic g.53439979A>G - - - SMC1A_000134 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.751_753del r.(?) p.(Lys251del) Unknown - VUS g.53439953_53439955del g.53413003_53413005del SMC1A(NM_001281463.1):c.685_687delAAG (p.K229del) - SMC1A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.784G>T r.(?) p.(Glu262*) Unknown - pathogenic g.53439920C>A g.53412970C>A - - SMC1A_000093 - PubMed: Minardi 2020 - - De novo - - - - - DNA SEQ-NG-I - - EIEE - PubMed: Minardi 2020 - F no Italy - - - - - 1 Francesca Bisulli
+/+ 5 c.802_804del r.(?) p.(Lys268del) Unknown - pathogenic g.53439908_53439910del g.53412958_53412960del 802_804del3 - SMC1A_000021 not in >220 control chromosomes PubMed: Liu 2009 - - De novo - - - - - DNA SEQ - - CDLS 19701948-Pat5 PubMed: Liu 2009 - F - - - - - - - 1 Bert Redeker
+/+? 5 c.802_804del r.(?) p.(Lys268del) Unknown - pathogenic g.53439908_53439910del g.53412958_53412960del 802_804delAAG - SMC1A_000021 not in 100 control alleles PubMed: Pié 2010 - - De novo - - - - - DNA SEQ - - CDLS Pié C13 PubMed: Pié 2010 - F - Spain - - - - - 1 Bert Redeker
+?/. 5 c.802_804del r.(?) p.(Lys268del) Unknown - likely pathogenic g.53439900_53439902del g.53412950_53412952del - - SMC1A_000021 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - WES CDLS BAB3623 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. 5 c.802_804del r.(?) p.(Lys268del) Unknown - pathogenic (dominant) g.53439908_53439910del g.53412950_53412952del - - SMC1A_000021 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS SMC1A-Pat8 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.855-15C>T r.(=) p.(=) Unknown - likely benign g.53439218G>A g.53412268G>A SMC1A(NM_001281463.1):c.789-15C>T, SMC1A(NM_006306.3):c.855-15C>T - SMC1A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.855-15C>T r.(=) p.(=) Unknown - likely benign g.53439218G>A g.53412268G>A SMC1A(NM_001281463.1):c.789-15C>T, SMC1A(NM_006306.3):c.855-15C>T - SMC1A_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.916_918del r.(?) p.(Ser306del) Unknown - pathogenic g.53439142_53439144del g.53412192_53412194del 916_918del3 - SMC1A_000022 not in >220 control chromosomes PubMed: Liu 2009 - - De novo - - - - - DNA SEQ - - CDLS 19701948-Pat6 PubMed: Liu 2009 - F - - - - - - - 1 Bert Redeker
+/. - c.1113+1G>A r.spl? p.? Unknown - pathogenic g.53438944C>T g.53411994C>T - - SMC1A_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 7i c.1114-2A>G r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.53438853T>C g.53411903T>C - - SMC1A_000124 - PubMed: Yuan 2019 - - Germline - - - - - DNA SEQ-NG - clinical WES CDLS SMC1A-Pat14 PubMed: Yuan 2019 2-generation family, 1 affected, mildly affected parant M - - - - - - - 1 Johan den Dunnen
-?/. - c.1119G>A r.(?) p.(Lys373=) Unknown - likely benign g.53438846C>T - SMC1A(NM_001281463.1):c.1053G>A (p.K351=) - SMC1A_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1141G>A r.(?) p.(Glu381Lys) Unknown - likely pathogenic g.53438824C>T - SMC1A(NM_001281463.1):c.1075G>A (p.E359K) - SMC1A_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 7 c.1169C>A r.(?) p.(Ala390Asp) Maternal (confirmed) - likely pathogenic g.53438796G>T g.53411846G>T - - SMC1A_000029 inherited from mildly affected mother Redeker (unpublished) - - Germline - - - - - DNA SEQ - - CDLS - Redeker (unpublished) - M - Netherlands - - - - - 1 Bert Redeker
-?/. - c.1173G>A r.(?) p.(Gln391=) Unknown - likely benign g.53438792C>T - SMC1A(NM_001281463.1):c.1107G>A (p.Q369=) - SMC1A_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 7 c.1192C>G r.(?) p.(Arg398Gly) Unknown - pathogenic g.53438773G>C g.53411823G>C - - SMC1A_000035 - PubMed: Gervasini 2013 - - De novo - - - - - DNA SEQ - - CDLS Gervasini 3 PubMed: Gervasini 2013 - F - Italy - - - - - 1 Bert Redeker
+/+ 7 c.1193G>A r.(?) p.(Arg398Gln) Unknown - pathogenic g.53438772C>T g.53411822C>T - - SMC1A_000023 not in >220 control chromosomes PubMed: Liu 2009 - - De novo - - - - - DNA SEQ - - CDLS 19701948-Pat7 PubMed: Liu 2009 - F - - - - - - - 1 Bert Redeker
?/. - c.1217G>A r.(?) p.(Arg406His) Unknown - VUS g.53438748C>T g.53411798C>T SMC1A(NM_006306.3):c.1217G>A (p.(Arg406His)) - SMC1A_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7 c.1235G>A r.(?) p.(Arg412Gln) Unknown ACMG VUS g.53438730C>T g.53411780C>T - - SMC1A_000104 - PubMed: Squeo 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - 68-gene panel ? GDB1404 PubMed: Squeo 2020 analysis 263 cases chromatin-related disorder - - Italy - - - - - 1 Johan den Dunnen
-?/. - c.1254+4G>A r.spl? p.? Unknown - likely benign g.53438707C>T g.53411757C>T SMC1A(NM_001281463.1):c.1188+4G>A, SMC1A(NM_006306.3):c.1254+4G>A - SMC1A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254+4G>A r.spl? p.? Unknown - likely benign g.53438707C>T - SMC1A(NM_001281463.1):c.1188+4G>A, SMC1A(NM_006306.3):c.1254+4G>A - SMC1A_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1254+11G>C r.(=) p.(=) Unknown - likely benign g.53438700C>G g.53411750C>G SMC1A(NM_006306.3):c.1254+11G>C - SMC1A_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1254+62C>A r.(=) p.(=) Unknown - benign g.53438649G>T g.53411699G>T SMC1A(NM_006306.3):c.1254+62C>A - SMC1A_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1284T>G r.(?) p.(Ile428Met) Unknown - likely benign g.53436405A>C g.53409474A>C SMC1A(NM_001281463.1):c.1218T>G (p.I406M) - SMC1A_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312C>T r.(?) p.(=) Unknown - likely benign g.53436377G>A - SMC1A(NM_006306.4):c.1312C>T (p.(Leu438=)) - SMC1A_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1323C>T r.(?) p.(Tyr441=) Unknown - likely benign g.53436366G>A g.53409435G>A SMC1A(NM_006306.4):c.1323C>T (p.Y441=) - SMC1A_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8i c.1338-32C>A r.(spl?) p.(=) Maternal (inferred) - VUS g.53436232G>T g.53409301= - - SMC1A_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 8i c.1338-32C>A r.(=) p.(=) Maternal (inferred) - VUS g.53436232G>T g.53409301= - - SMC1A_000042 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1361A>G r.(?) p.(Lys454Arg) Unknown - VUS g.53436177T>C - SMC1A(NM_006306.3):c.1361A>G (p.(Lys454Arg)) - SMC1A_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.1478A>C r.(?) p.(Glu493Ala) Parent #1 - pathogenic g.53436060T>G g.53409129T>G - - SMC1A_000003 not in >400 control chromosomes: SMC1A protein detectable PubMed: Musio 2006, OMIM:var0002 - - De novo - - - - - DNA DHPLC, SEQ - - CDLS 16604071.Fam2-II.3 PubMed: Musio 2006 - M - (Italy) - - - - - 1 Johan den Dunnen
+/? 9 c.1478A>C r.(?) p.Glu493Ala Parent #1 - NA g.53436060T>G g.53409129T>G - - SMC1A_000003 increased affinity of SMC hinge dimers for DNA binding PubMed: Revenkova 2009, OMIM:var0002 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 9 c.1486C>T r.(?) p.(Arg496Cys) Maternal (confirmed) - pathogenic g.53436052G>A g.53409121G>A - - SMC1A_000008 not in 220 control chromosomes PubMed: Deardorff 2007 - - Germline - - - - - DNA SEQ - - CDLS 16604071.6P PubMed: Deardorff 2007 inherited from mildly affected mother M - - - - - - - 1 Johan den Dunnen
+/? 9 c.1487G>A r.(?) p.(Arg496His) Unknown - pathogenic g.53436051C>T g.53409120C>T - - SMC1A_000004 increased affinity of SMC hinge dimers for DNA binding - - - Unknown - - - - - DNA SEQ - - CDLS ? - - F - Portugal - - - - - 1 Jorge Oliveira
+/? 9 c.1487G>A r.(?) p.(Arg496His) Parent #1 - pathogenic g.53436051C>T g.53409120C>T - - SMC1A_000004 not in 220 control chromosomes; germline and somatic mosaicism in parent PubMed: Deardorff 2007, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CDLS 16604071.7P PubMed: Deardorff 2007 sister of16604071.7S F - - - - - - - 2 Johan den Dunnen
+/? 9 c.1487G>A r.(?) p.(Arg496His) Parent #1 - pathogenic g.53436051C>T g.53409120C>T - - SMC1A_000004 not in 220 control chromosomes; germline and somatic mosaicism in parent PubMed: Deardorff 2007, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CDLS 16604071.7S PubMed: Deardorff 2007 sister of 16604071.7P F - - - - - - - 1 Johan den Dunnen
+/? 9 c.1487G>A r.(?) p.(Arg496His) Parent #1 - pathogenic g.53436051C>T g.53409120C>T - - SMC1A_000004 not in 220 control chromosomes; somatic mosaicism in parent PubMed: Deardorff 2007, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CDLS 16604071.8P PubMed: Deardorff 2007 sister of 16604071.8S F - - - - - - - 2 Johan den Dunnen
+/? 9 c.1487G>A r.(?) p.(Arg496His) Parent #1 - pathogenic g.53436051C>T g.53409120C>T - - SMC1A_000004 not in 220 control chromosomes; somatic mosaicism in parent PubMed: Deardorff 2007, OMIM:var0004 - - Germline - - - - - DNA SEQ - - CDLS 16604071.8S PubMed: Deardorff 2007 sister of 16604071.8P F - - - - - - - 1 Johan den Dunnen
+/? 9 c.1487G>A r.(?) p.(Arg496His) Parent #1 - pathogenic g.53436051C>T g.53409120C>T - - SMC1A_000004 not in 220 control chromosomes PubMed: Deardorff 2007 - - Germline - - - - - DNA SEQ - - CDLS 16604071.9P PubMed: Deardorff 2007 - F - - - - - - - 1 Johan den Dunnen
+/? 9 c.1487G>A r.(?) p.Arg496His Parent #1 - NA g.53436051C>T g.53409120C>T - - SMC1A_000004 increased affinity of SMC hinge dimers for DNA binding PubMed: Revenkova 2009, OMIM:var0004 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1487G>A r.(?) p.(Arg496His) Unknown - pathogenic (dominant) g.53436051C>T g.53409120C>T - - SMC1A_000004 - PubMed: Yuan 2019 - - De novo - - - - - DNA SEQ-NG - clinical WES CDLS SMC1A-Pat9 PubMed: Yuan 2019 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - 1 Johan den Dunnen
-?/. - c.1545+4A>C r.spl? p.? Unknown - likely benign g.53435989T>G g.53409058T>G SMC1A(NM_001281463.1):c.1479+4A>C, SMC1A(NM_006306.3):c.1545+4A>C, SMC1A(NM_006306.4):c.1545+4A>C - SMC1A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545+4A>C r.spl? p.? Unknown - likely benign g.53435989T>G - SMC1A(NM_001281463.1):c.1479+4A>C, SMC1A(NM_006306.3):c.1545+4A>C, SMC1A(NM_006306.4):c.1545+4A>C - SMC1A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1545+4A>C r.spl? p.? Unknown - likely benign g.53435989T>G - SMC1A(NM_001281463.1):c.1479+4A>C, SMC1A(NM_006306.3):c.1545+4A>C, SMC1A(NM_006306.4):c.1545+4A>C - SMC1A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548C>T r.(?) p.(Tyr516=) Unknown - likely benign g.53432886G>A g.53405954G>A SMC1A(NM_001281463.1):c.1482C>T (p.(=)) - SMC1A_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1576A>C r.(?) p.(Thr526Pro) Unknown - pathogenic g.53432858T>G - SMC1A(NM_006306.3):c.1576A>C (p.T526P) - SMC1A_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1678A>G r.(?) p.(Ile560Val) Unknown - VUS g.53432756T>C - SMC1A(NM_006306.4):c.1678A>G (p.I560V) - SMC1A_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1698G>A r.(?) p.(Glu566=) Unknown - benign g.53432736C>T g.53405804C>T SMC1A(NM_001281463.1):c.1632G>A (p.E544=) - SMC1A_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1767G>A r.(?) p.(Lys589=) Unknown - likely benign g.53432569C>T g.53405637C>T SMC1A(NM_001281463.1):c.1701G>A (p.K567=) - SMC1A_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788T>C r.(?) p.(Asp596=) Unknown - likely benign g.53432548A>G g.53405616A>G SMC1A(NM_006306.3):c.1788T>C (p.D596=) - SMC1A_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1863C>T r.(?) p.(Asn621=) Unknown - likely benign g.53432473G>A - SMC1A(NM_001281463.1):c.1797C>T (p.N599=) - SMC1A_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1904G>A r.(?) p.(Arg635His) Unknown - VUS g.53432432C>T g.53405500C>T SMC1A(NM_006306.2):c.1904G>A (p.(Arg635His)) - SMC1A_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1912-14C>T r.(=) p.(=) Unknown - likely benign g.53432337G>A g.53405405G>A SMC1A(NM_006306.3):c.1912-14C>T - SMC1A_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 12 c.1937T>C r.(?) p.(Phe646Ser) Maternal (confirmed) - likely pathogenic g.53432298A>G g.53405366A>G - - SMC1A_000033 mother skewed X-inactivation (96:4) PubMed: Tzschach 2015 - - Germline - - - - - DNA PCR, SEQ - - ID Pat17 PubMed: Tzschach 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M no Turkey - - - - - 1 Andreas Tzschach
+/+ 12 c.1951G>A r.(?) p.(Val651Met) Unknown - pathogenic g.53432284C>T g.53405352C>T - - SMC1A_000034 - PubMed: Gervasini 2013 - - De novo - - - - - DNA SEQ - - CDLS Gervasini 1 PubMed: Gervasini 2013 - M - Italy - - - - - 1 Bert Redeker
+?/+? 12 c.1955T>A r.(?) p.(Ile652Asn) Unknown - likely pathogenic g.53432280A>T g.53405348A>T - - SMC1A_000041 - Redeker (unpublished) - - Unknown - - - - - DNA SEQ - - CDLS - Redeker (unpublished) - F - Denmark - - - - - 1 Bert Redeker
+?/. - c.1968_1970del r.(?) p.(Ser657del) Unknown - likely pathogenic g.53432265_53432267del - - - SMC1A_000138 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 12 c.2046_2048del r.(?) p.(Glu684del) Unknown - pathogenic g.53432187_53432189del g.53405255_53405257del 2046_2048delAGA - SMC1A_000024 not in >220 control chromosomes PubMed: Liu 2009 - - De novo - - - - - DNA SEQ - - CDLS 19701948-Pat10 PubMed: Liu 2009 - F - - - - - - - 1 Bert Redeker
+/+ 12 c.2077C>G r.(?) p.(Arg693Gly) Unknown - pathogenic g.53432063G>C g.53405131G>C - - SMC1A_000025 not in >220 control chromosomes PubMed: Liu 2009 - - De novo - - - - - DNA SEQ - - CDLS 19701948-Pat11 PubMed: Liu 2009 - F - - - - - - - 1 Bert Redeker
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