Full data view for gene SMARCC2

Information The variants shown are described using the NM_003075.3 transcript reference sequence.

110 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.-102_-81del r.(?) p.(=) Unknown - likely benign g.56583344_56583365del g.56189560_56189581del SMARCC2(NM_003075.5):c.-102_-81delCCGCGGCGGCGGGAGGCGGCGG - SMARCC2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. _1_28_ c.-106_*1837{0} r.0 p.0 Unknown - likely pathogenic (dominant) g.(?_56435686)_(56583351_?)del - - - SMARCC2_000042 deletion including SMARCC2, RPS26 Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.53C>G r.(?) p.(Ala18Gly) Unknown - likely benign g.56583193G>C - SMARCC2(NM_001130420.1):c.53C>G (p.(Ala18Gly)) - SMARCC2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.172C>T r.(?) p.(Gln58Ter) Unknown - likely pathogenic (dominant) g.56581030G>A g.56187246G>A - - SMARCC2_000063 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely pathogenic g.56580972G>A - - - SMARCC2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely pathogenic (dominant) g.56580972G>A g.56187188G>A - - SMARCC2_000035 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely pathogenic (dominant) g.56580972G>A g.56187188G>A - - SMARCC2_000035 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - likely pathogenic (dominant) g.56580972G>A g.56187188G>A - - SMARCC2_000035 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD Pat43 Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.231+280G>A r.(=) p.(=) Unknown - likely benign g.56580691C>T - SMARCC2(NM_001330288.2):c.231+280G>A - SMARCC2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.317+2T>A r.spl? p.? Unknown - VUS g.56579937A>T g.56186153A>T - - SMARCC2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.317+2T>A r.spl p.? Unknown - likely pathogenic (dominant) g.56579937A>T g.56186153A>T - - SMARCC2_000024 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.326dup r.(?) p.(Tyr109Ter) Unknown - likely pathogenic g.56578887dup g.56185103dup SMARCC2(NM_001130420.1):c.326dupA (p.(Tyr109Ter)) - SMARCC2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.326dup r.(?) p.(Tyr109Ter) Unknown - likely pathogenic (dominant) g.56578887dup g.56185103dup - - SMARCC2_000022 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
?/. - c.327C>G r.(?) p.(Tyr109Ter) Unknown - VUS g.56578886G>C g.56185102G>C SMARCC2(NM_001130420.1):c.327C>G (p.(Tyr109Ter)), SMARCC2(NM_001330288.2):c.327C>G (p.Y109*) - SMARCC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.327C>G r.(?) p.(Tyr109Ter) Unknown - VUS g.56578886G>C - SMARCC2(NM_001130420.1):c.327C>G (p.(Tyr109Ter)), SMARCC2(NM_001330288.2):c.327C>G (p.Y109*) - SMARCC2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.327C>G r.(?) p.(Tyr109Ter) Unknown - likely pathogenic (dominant) g.56578886G>C g.56185102G>C - - SMARCC2_000023 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.327C>G r.(?) p.(Tyr109Ter) Unknown - likely pathogenic (dominant) g.56578886G>C g.56185102G>C - - SMARCC2_000023 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
?/. - c.359A>G r.(?) p.(Asn120Ser) Unknown - VUS g.56578854T>C - SMARCC2(NM_003075.5):c.359A>G (p.N120S) - SMARCC2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.368T>C r.(?) p.(Met123Thr) Unknown - VUS g.56578845A>G g.56185061A>G - - SMARCC2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.400A>G r.(?) p.(Asn134Asp) Unknown - pathogenic (dominant) g.56578720T>C g.56184936T>C - - SMARCC2_000005 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat1 PubMed: Machol 2018 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.492+5A>G r.spl? p.? Unknown - likely benign g.56578623T>C - SMARCC2(NM_001330288.2):c.492+5A>G, SMARCC2(NM_003075.5):c.492+5A>G - SMARCC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492+5A>G r.spl? p.? Unknown - likely benign g.56578623T>C - SMARCC2(NM_001330288.2):c.492+5A>G, SMARCC2(NM_003075.5):c.492+5A>G - SMARCC2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.529G>A r.(?) p.(Val177Ile) Unknown - VUS g.56577992C>T - SMARCC2(NM_001330288.2):c.529G>A (p.V177I) - SMARCC2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574C>T r.(?) p.(Arg192Ter) Unknown - VUS g.56577703G>A g.56183919G>A - - SMARCC2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.574C>T r.(?) p.(Arg192Ter) Unknown - likely pathogenic (dominant) g.56577703G>A g.56183919G>A - - SMARCC2_000020 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.574C>T r.(?) p.(Arg192Ter) Unknown - likely pathogenic (dominant) g.56577703G>A g.56183919G>A - - SMARCC2_000020 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.640A>G r.(?) p.(Thr214Ala) Unknown - likely pathogenic (dominant) g.56575856T>C g.56182072T>C - - SMARCC2_000062 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.723G>A r.(?) p.(Trp241*) Paternal (confirmed) - pathogenic (dominant) g.56575605C>T g.56181821C>T - - SMARCC2_000006 - PubMed: Machol 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat2 PubMed: Machol 2018 affected father/son M - - - - - - - 2 Johan den Dunnen
+?/. - c.723G>A r.(?) p.(Trp241Ter) Unknown - likely pathogenic g.56575605C>T g.56181821C>T - - SMARCC2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.743T>C r.(?) p.(Phe248Ser) Unknown - likely pathogenic (dominant) g.56575585A>G g.56181801A>G - - SMARCC2_000061 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
?/. - c.793C>T r.(?) p.(Pro265Ser) Unknown - VUS g.56575535G>A g.56181751G>A SMARCC2(NM_003075.5):c.793C>T (p.P265S) - SMARCC2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.805C>T r.(?) p.(Arg269Ter) Unknown - likely pathogenic (dominant) g.56575523G>A g.56181739G>A - - SMARCC2_000060 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.805C>T r.(?) p.(Arg269Ter) Unknown - likely pathogenic (dominant) g.56575523G>A g.56181739G>A - - SMARCC2_000060 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. 10 c.880_881del r.(?) p.(Gly294LysfsTer3) Unknown ACMG likely pathogenic (dominant) g.56575345_56575346del g.56181561_56181562del - - SMARCC2_000059 ACMG PVS1, PM2 PubMed: Chen 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat123 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+?/. 10 c.888_889del r.(?) p.(Tyr296Ter) Unknown ACMG likely pathogenic (dominant) g.56575335_56575336del g.56181551_56181552del - - SMARCC2_000058 ACMG PVS1, PM2 PubMed: Chen 2022 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES NDD Pat124 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
?/. - c.956+3G>A r.spl? p.? Unknown - VUS g.56575263C>T - SMARCC2(NM_001330288.2):c.956+3G>A - SMARCC2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.999dup r.(?) p.(Glu334Argfs*49) Unknown - pathogenic (dominant) g.56574844dup g.56181060dup 999dupA - SMARCC2_000007 - PubMed: Machol 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat3 PubMed: Machol 2018 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.1008A>G r.(?) p.(Gln336=) Unknown - likely benign g.56574834T>C - SMARCC2(NM_001330288.2):c.1008A>G (p.Q336=) - SMARCC2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1052A>G r.(?) p.(Asn351Ser) Unknown - likely benign g.56574790T>C - SMARCC2(NM_001330288.2):c.1052A>G (p.(Asn351Ser)) - SMARCC2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1094_1097del r.(?) p.(Lys365Thrfs*12) Unknown - likely pathogenic (dominant) g.56572830_56572833del g.56179046_56179049del 1094_1097delAGAA - SMARCC2_000040 - PubMed: Li 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WES CSS patient PubMed: Li 2022 adopted F - United States - - - - - 1 Johan den Dunnen
-?/. - c.1127C>T r.(?) p.(Thr376Ile) Unknown - likely benign g.56572795G>A - SMARCC2(NM_001130420.1):c.1127C>T (p.(Thr376Ile)) - SMARCC2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1141+10G>C r.(=) p.(=) Unknown - likely benign g.56572771C>G - SMARCC2(NM_001330288.2):c.1141+10G>C - SMARCC2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141+10_1141+11insTC r.(=) p.(=) Unknown - VUS g.56572770_56572771insGA - SMARCC2(NM_001330288.2):c.1141+10_1141+11insTC - SMARCC2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1173G>A r.(?) p.(=) Unknown - VUS g.56572600C>T - SMARCC2(NM_001330288.2):c.1173G>A (p.(Thr391=)) - SMARCC2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311-3C>G r.spl p.? Unknown - likely pathogenic g.56571880G>C g.56178096G>C - - SMARCC2_000004 - PubMed: Martinez 2017, Journal: Martinez 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat36 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1311-1G>A r.spl p.? Unknown - likely pathogenic (dominant) g.56571878C>T g.56178094C>T - - SMARCC2_000057 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1327C>T r.(?) p.(Arg443Trp) Unknown - VUS g.56571861G>A g.56178077G>A SMARCC2(NM_001330288.2):c.1327C>T (p.R443W) - SMARCC2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1327C>T r.(?) p.(Arg443Trp) Unknown - likely pathogenic (dominant) g.56571861G>A g.56178077G>A - - SMARCC2_000018 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1355G>A r.(?) p.(Gly452Asp) Unknown - VUS g.56571833C>T - - - SMARCC2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1397G>C r.(?) p.(Arg466Pro) Unknown - likely pathogenic g.56568534C>G - SMARCC2(NM_001330288.2):c.1397G>C (p.R466P) - SMARCC2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1493T>C r.(?) p.(Met498Thr) Unknown - likely benign g.56568438A>G - SMARCC2(NM_001130420.1):c.1493T>C (p.(Met498Thr)) - SMARCC2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16i c.1496+1G>T r.[1496_1497ins[T;1496+2_1496+126],1383_1496del] p.[Met498_Arg499insSWVLWLRGRGYMRMPAYGCVLATVEMPARNTEEQTEKSTSRE,Ile461_Arg499delinsMet] Unknown - pathogenic (dominant) g.56568434C>A g.56174650C>A - - SMARCC2_000072 - PubMed: Li 2025 - - De novo - - - - - DNA RT-PCR, SEQ, SEQ-NG - WES NDD twins PubMed: Li 2025 2-generation family, affected twin pair, unaffected heterozygous carrier parents M no China - - - - - 2 Johan den Dunnen
?/. - c.1497-3C>G r.spl? p.? Unknown - VUS g.56567636G>C g.56173852G>C - - SMARCC2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 17 c.1555C>T r.(?) p.(Arg519*) Unknown - VUS g.56567575G>A - - - SMARCC2_000037 candidate pathogenic variant PubMed: Carss 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? F6 PubMed: Carss 2014 affected fetus F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
?/. - c.1650+2T>C r.spl? p.? Unknown - VUS g.56567478A>G g.56173694A>G - - SMARCC2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1651-2A>G r.spl p.? Unknown - VUS g.56566490T>C - - - SMARCC2_000041 father not available PubMed: Scott 2022, PubMed: Gofin 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - duo WES CSS ?;Pat5 PubMed: Scott 2022, PubMed: Gofin 2022 2-generation family, deceased fetus, unaffected non carrier parents F - United States - <00y00m00d - - - 1 Johan den Dunnen
-?/. - c.1683T>C r.(?) p.(Phe561=) Unknown - likely benign g.56566456A>G - SMARCC2(NM_001330288.2):c.1776T>C (p.F592=) - SMARCC2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1770+1G>T r.spl p.? Unknown - likely pathogenic g.56566368C>A - - - SMARCC2_000038 - PubMed: Neale 2012 - - De novo - - - - - DNA SEQ-NG - - autism patient PubMed: Neale 2012 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1781C>T r.(?) p.(Ala594Val) Unknown - likely benign g.56566264G>A - SMARCC2(NM_001330288.2):c.1874C>T (p.(Ala625Val)) - SMARCC2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1796G>A r.(?) p.(Arg599His) Unknown - likely pathogenic (dominant) g.56566249C>T g.56172465C>T - - SMARCC2_000056 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1801T>C r.(?) p.(Trp601Arg) Unknown - VUS g.56566244A>G - - - SMARCC2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1824_1826del r.(?) p.(Leu610del) Unknown - likely pathogenic (dominant) g.56566221_56566223del g.56172437_56172439del - - SMARCC2_000039 - PubMed: Li 2022 - - De novo - - - - - DNA SEQ-NG - - CSS Pat1 PubMed: Li 2022 - F - United States - - - - - 1 Johan den Dunnen
+/. - c.1826T>C r.(?) p.(Leu609Pro) Unknown ACMG pathogenic (dominant) g.56566219A>G g.56172435A>G - - SMARCC2_000009 ACMG PS1, PS2, PM2, P44 PubMed: Machol 2018, PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat5;Pat125 PubMed: Machol 2018, PubMed: Chen 2022 - M - - - - - - - 1 Johan den Dunnen
+/. 19 c.1826T>C r.(?) p.(Leu609Pro) Unknown ACMG pathogenic (dominant) g.56566219A>G g.56172435A>G - - SMARCC2_000009 ACMG PS1, PS2, PM2, P44 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat126 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1829T>C r.(?) p.(Leu610Pro) Unknown - pathogenic (dominant) g.56566216A>G g.56172432A>G - - SMARCC2_000008 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat6 PubMed: Machol 2018 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1829T>C r.(?) p.(Leu610Pro) Unknown - pathogenic (dominant) g.56566216A>G g.56172432A>G - - SMARCC2_000008 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat7 PubMed: Machol 2018 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1833+1G>T r.(1771_1833del) p.? Unknown - pathogenic (dominant) g.56566211C>A g.56172427C>A - - SMARCC2_000010 - PubMed: Machol 2018 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat8 PubMed: Machol 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.1833+2T>C r.spl? p.? Unknown - likely pathogenic g.56566210A>G g.56172426A>G SMARCC2(NM_003075.4):c.1833+2T>C - SMARCC2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1833+2T>C r.spl p.? Unknown - likely pathogenic (dominant) g.56566210A>G g.56172426A>G - - SMARCC2_000001 variant not maternal; ACMG PS3, PM2, PP4 PubMed: Machol 2018, PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat9;Pat127 PubMed: Machol 2018, PubMed: Chen 2022 - M - - - - - - - 1 Johan den Dunnen
+/. - c.1833+2T>C r.spl p.? Unknown - pathogenic (dominant) g.56566210A>G g.56172426A>G - - SMARCC2_000001 - PubMed: Zhu 2015, PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? Pat74;Pat10 PubMed: Zhu 2015, PubMed: Machol 2018 - M - United States - - - - - 1 Johan den Dunnen
-?/. - c.1833+5T>C r.spl? p.? Unknown - likely benign g.56566207A>G - SMARCC2(NM_001330288.2):c.1926+5T>C - SMARCC2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1834-7C>G r.(?) p.Glu611_Ala612insHisGln Unknown - likely pathogenic (dominant) g.56565728G>C g.56171944G>C - - SMARCC2_000055 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1838T>C r.(?) p.(Leu613Pro) Unknown - pathogenic (dominant) g.56565717A>G g.56171933A>G - - SMARCC2_000011 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat11 PubMed: Machol 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.1849_1854del r.(?) p.(Lys617_Asp618del) Unknown - likely pathogenic (dominant) g.56565701_56565706del g.56171917_56171922del - - SMARCC2_000054 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.1877_1878insAAGTG r.(?) p.(His626Glnfs*33) Unknown - likely pathogenic g.56565677_56565678insCACTT - SMARCC2(NM_001330288.2):c.1970_1971insAAGTG (p.H657Qfs*33) - SMARCC2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1903T>C r.(?) p.(Cys635Arg) Unknown - pathogenic (dominant) g.56565652A>G g.56171868A>G - - SMARCC2_000012 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat12 PubMed: Machol 2018 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.1919T>C r.(?) p.(Leu640Pro) Unknown - likely pathogenic (dominant) g.56565636A>G g.56171852A>G - - SMARCC2_000053 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2059C>T r.(?) p.(Arg687Ter) Unknown - likely pathogenic (dominant) g.56565496G>A g.56171712G>A - - SMARCC2_000052 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2059C>T r.(?) p.(Arg687Ter) Unknown - likely pathogenic (dominant) g.56565496G>A g.56171712G>A - - SMARCC2_000052 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2074G>C r.(?) p.(Ala692Pro) Unknown ACMG likely pathogenic (dominant) g.56565481C>G g.56171697C>G - - SMARCC2_000036 - PubMed: Yi 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES CSS patient PubMed: Yi 2022 2-generation family, 1 affected, unaffected non carrier parents F - China - - - - - 1 Johan den Dunnen
?/. - c.2234C>T r.(?) p.(Ser745Phe) Unknown - VUS g.56565075G>A - SMARCC2(NM_001130420.1):c.2327C>T (p.(Ser776Phe)) - SMARCC2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2320-2A>G r.spl? p.? Unknown - pathogenic g.56563697T>C - SMARCC2(NM_003075.5):c.2320-2A>G - SMARCC2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2413G>A r.(?) p.(Asp805Asn) Unknown - likely benign g.56563602C>T - SMARCC2(NM_003075.5):c.2413G>A (p.D805N) - SMARCC2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2452A>G r.(?) p.(Ile818Val) Unknown - likely benign g.56563563T>C - SMARCC2(NM_001330288.2):c.2545A>G (p.(Ile849Val)) - SMARCC2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2464G>T r.(?) p.(Glu822*) Unknown - likely pathogenic g.56563471C>A - SMARCC2(NM_001330288.2):c.2557G>T (p.E853*) - SMARCC2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2602G>C r.(?) p.(Ala868Pro) Unknown - likely pathogenic (dominant) g.56563333C>G g.56169549C>G - - SMARCC2_000051 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2639A>G r.(?) p.(Glu880Gly) Unknown - likely pathogenic (dominant) g.56561962T>C g.56168178T>C - - SMARCC2_000050 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.2678A>G r.(?) p.(Glu893Gly) Unknown - likely pathogenic (dominant) g.56561923T>C g.56168139T>C - - SMARCC2_000049 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2686A>G r.(?) p.(Met896Val) Unknown - pathogenic (dominant) g.56561915T>C g.56168131T>C - - SMARCC2_000013 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat13 PubMed: Machol 2018 - M - - - - - - - 1 Johan den Dunnen
+?/. - c.2697G>T r.(?) p.(Leu899Phe) Unknown - likely pathogenic (dominant) g.56561904C>A g.56168120C>A - - SMARCC2_000048 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+/. - c.2699A>G r.(?) p.(Glu900Gly) Unknown - pathogenic (dominant) g.56561902T>C g.56168118T>C - - SMARCC2_000014 - PubMed: Machol 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 30580808-Pat14 PubMed: Schön 2006 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.2954G>C r.(?) p.(Gly985Ala) Unknown - likely benign g.56559287C>G - SMARCC2(NM_001130420.1):c.3047G>C (p.(Gly1016Ala)) - MYL6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3067C>A r.(?) p.(Gln1023Lys) Unknown - VUS g.56559174G>T - SMARCC2(NM_003075.5):c.3067C>A (p.Q1023K) - MYL6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3089C>T r.(?) p.(Ala1030Val) Unknown - likely benign g.56559152G>A - SMARCC2(NM_001330288.2):c.3182C>T (p.(Ala1061Val)) - MYL6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3094dup r.(?) p.(Gln1032ProfsTer45) Unknown - likely pathogenic (dominant) g.56559152dup g.56165368dup - - SMARCC2_000047 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.3127C>G r.(?) p.(Pro1043Ala) Unknown - likely benign g.56559114G>C - SMARCC2(NM_001330288.2):c.3220C>G (p.(Pro1074Ala)) - MYL6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3129del r.(?) p.(Gly1044Aspfs*17) Maternal (confirmed) - VUS (!) g.56559112del g.56165328del G1044Dfs*17 - SMARCC2_000003 variant in unaffected mother/sister PubMed: Lo 2022 - - Germline - - - - - DNA SEQ - - autism twins PubMed: Lo 2022 2-generation family, affected twin pair, unaffected carrier mother/sister M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.3129del r.(?) p.(Gly1044AspfsTer17) Parent #1 - likely pathogenic (dominant) g.56559112del g.56165328del - - SMARCC2_000003 - Journal: Bosch 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 family, 5 affected sibs - - - - - - - - 5 Johan den Dunnen
+?/. - c.3129del r.(?) p.(Gly1044AspfsTer17) Unknown - likely pathogenic (dominant) g.56559112del g.56165328del - - SMARCC2_000003 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.3135_3139dup r.(?) p.](Gly1047AlafsTer16),?] Unknown - likely pathogenic (dominant) g.56559102_56559106dup g.56165318_56165322dup - - SMARCC2_000046 - Journal: Bosch 2023 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - NDD - Journal: Bosch 2023 - - - - - - - - - 1 Johan den Dunnen
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