Full data view for gene SMARCA4

Information The variants shown are described using the NM_003072.3 transcript reference sequence.

442 entries on 5 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.-2177G>C r.(?) p.(=) Unknown - VUS g.11069705G>C - SMARCA4(NM_003072.5):c.-2177G>C - SMARCA4_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32+8534G>A r.(=) p.(=) Unknown - VUS g.11080384G>A - SMARCA4(NM_003072.5):c.-32+8534G>A - SMARCA4_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.? r.(?) p.? Parent #1 - VUS g.11096027_11096028delAG - AG not found at position 661_662, found GG instead. - SMARCA4_000079 Refseq reported: SRS429514, SRS431657 Variant Error [EREF/ESYNTAX]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Lavrut PM 2016 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Lavrut PM 2016 - F - - - - - - - 1 Julia Lopez
?/. - c.104C>T r.(?) p.(Ser35Leu) Unknown - VUS g.11094931C>T g.10984255C>T SMARCA4(NM_001128844.3):c.104C>T (p.S35L) - SMARCA4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115G>A r.(?) p.(Ala39Thr) Unknown - VUS g.11094942G>A g.10984266G>A SMARCA4(NM_001128844.1):c.115G>A (p.A39T), SMARCA4(NM_003072.5):c.115G>A (p.(Ala39Thr)) - SMARCA4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.115G>A r.(?) p.(Ala39Thr) Unknown - likely benign g.11094942G>A - SMARCA4(NM_001128844.1):c.115G>A (p.A39T), SMARCA4(NM_003072.5):c.115G>A (p.(Ala39Thr)) - SMARCA4_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.133C>T r.(?) p.(Pro45Ser) Unknown - VUS g.11094960C>T - SMARCA4(NM_001128844.3):c.133C>T (p.P45S) - SMARCA4_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? - c.171del r.(?) p.(Thr58Profs*36) Unknown - NA g.11094998del g.10984322del NM_003072.2:c.169delC - SMARCA4_000004 - PubMed: Medina 2008 - - In vitro (cloned) - - - - - DNA SEQ - - cancer, lung - - - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.171del r.(?) p.(Thr58Profs*36) Unknown - pathogenic g.11094998del g.10984322del NM_003072.2:c.169delC - SMARCA4_000004 - PubMed: Medina 2008 - - Somatic - - - - - DNA SEQ - - - - - cell line - - - - - - - - 1 Johan den Dunnen
?/. - c.175C>T r.(?) p.(Gln59*) Maternal (confirmed) - VUS g.11095002C>T g.10984326C>T - - SMARCA4_000078 Refseq reported: SRS429514, SRS431657 PubMed: Witkowski L 2016 - - Germline - - - - - DNA SEQ - - ? III2 PubMed: Witkowski L 2016 - F - - - - - - - 1 Julia Lopez
?/. - c.175C>T r.(?) p.(Gln59*) Parent #1 - VUS g.11095002C>T g.10984326C>T - - SMARCA4_000078 Refseq reported: SRS429514, SRS431657 PubMed: Witkowski L 2016 - - Unknown - - - - - DNA SEQ - - ? II3 PubMed: Witkowski L 2016 - F - - - - - - - 1 Julia Lopez
?/. - c.176A>C r.(?) p.(Gln59Pro) Unknown - VUS g.11095003A>C - SMARCA4(NM_001128849.3):c.176A>C (p.Q59P) - SMARCA4_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.212A>G r.(?) p.(Gln71Arg) Unknown - VUS g.11095039A>G - - - SMARCA4_000177 - - - rs2145726840 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.222+18C>T r.(=) p.(=) Unknown - likely benign g.11095067C>T - SMARCA4(NM_001128844.3):c.222+18C>T - SMARCA4_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223-405A>T r.(=) p.(=) Unknown - likely benign g.11095544A>T - SMARCA4(NM_003072.5):c.223-405A>T - SMARCA4_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223-15T>C r.(=) p.(=) Unknown - likely benign g.11095934T>C g.10985258T>C SMARCA4(NM_001128844.3):c.223-15T>C - SMARCA4_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.235A>G r.(?) p.(Met79Val) Unknown - VUS g.11095961A>G g.10985285A>G SMARCA4(NM_003072.3):c.235A>G (p.(Met79Val)) - SMARCA4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.235A>G r.(?) p.(Met79Val) Unknown - likely benign g.11095961A>G - SMARCA4(NM_003072.3):c.235A>G (p.(Met79Val)) - SMARCA4_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.254C>T r.(?) p.(Ser85Leu) Unknown - likely benign g.11095980C>T - SMARCA4(NM_003072.3):c.254C>T (p.(Ser85Leu)) - SMARCA4_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.258C>T r.(?) p.(=) Unknown - likely benign g.11095984C>T - SMARCA4(NM_001128844.3):c.258C>T (p.D86=) - SMARCA4_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.294G>T r.(?) p.(Met98Ile) Unknown - VUS g.11096020G>T g.10985344G>T SMARCA4(NM_001128844.1):c.294G>T (p.M98I, p.(Met98Ile)) - SMARCA4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.294G>T r.(?) p.(Met98Ile) Unknown - likely benign g.11096020G>T g.10985344G>T SMARCA4(NM_001128844.1):c.294G>T (p.M98I, p.(Met98Ile)) - SMARCA4_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.356-14A>G r.(=) p.(=) Unknown - VUS g.11096851A>G g.10986175A>G - - SMARCA4_000028 - - - - Unknown - - - - - DNA SEQ - - CSS Pat55;Pat39;Pat329 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
-/. - c.356-14A>G r.(=) p.(=) Unknown - benign g.11096851A>G g.10986175A>G SMARCA4(NM_001128844.1):c.356-14A>G (p.(=)), SMARCA4(NM_001128844.3):c.356-14A>G - SMARCA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.356-14A>G r.(=) p.(=) Unknown - benign g.11096851A>G - SMARCA4(NM_001128844.1):c.356-14A>G (p.(=)), SMARCA4(NM_001128844.3):c.356-14A>G - SMARCA4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.403C>G r.(?) p.(Pro135Ala) Unknown - VUS g.11096912C>G - SMARCA4(NM_003072.5):c.403C>G (p.(Pro135Ala)) - SMARCA4_000219 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.423G>A r.(?) p.(Ser141=) Unknown - likely benign g.11096932G>A g.10986256G>A SMARCA4(NM_001128844.1):c.423G>A (p.S141=) - SMARCA4_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505C>T r.(?) p.(Pro169Ser) Unknown - likely benign g.11097014C>T - SMARCA4(NM_003072.5):c.505C>T (p.(Pro169Ser)) - SMARCA4_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.589C>T r.(?) p.(Pro197Ser) Unknown - likely pathogenic g.11097098C>T g.10986422C>T NM_001128849.1(SMARCA4):c.589C>T p.(Pro197Ser) - SMARCA4_000049 variant could not be associated with disease phenotype PubMed: Vogelaar 2017, Journal: Vogelaar 2017 - - Germline - - - - - DNA SEQ-NG - - cancer, gastric Vogelaar-729A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - 1 Marjolijn JL Ligtenberg
-?/. - c.589C>T r.(?) p.(Pro197Ser) Unknown - likely benign g.11097098C>T g.10986422C>T SMARCA4(NM_001128844.3):c.589C>T (p.P197S), SMARCA4(NM_003072.5):c.589C>T (p.(Pro197Ser)) - SMARCA4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.589C>T r.(?) p.(Pro197Ser) Unknown - likely benign g.11097098C>T - SMARCA4(NM_001128844.3):c.589C>T (p.P197S), SMARCA4(NM_003072.5):c.589C>T (p.(Pro197Ser)) - SMARCA4_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.591C>A r.(?) p.(=) Unknown - likely benign g.11097100C>A - SMARCA4(NM_003072.5):c.591C>A (p.(Pro197=)) - SMARCA4_000220 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.602A>T r.(?) p.(Gln201Leu) Unknown - VUS g.11097111A>T g.10986435A>T - - SMARCA4_000154 - PubMed: Jiang 2022 - - Germline/De novo (untested) - >1/309 cases - - - DNA SEQ-NG - 81-gene panel cancer, colon - PubMed: Jiang 2022 analysis 486 colorectal cancer patients - - China - - - - - 2 Johan den Dunnen
-?/. - c.626C>T r.(?) p.(Pro209Leu) Unknown - likely benign g.11097135C>T - SMARCA4(NM_003072.3):c.626C>T (p.(Pro209Leu)) - SMARCA4_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.643C>T r.(?) p.(Gln215*) Parent #1 - VUS g.11097152C>T g.10986476C>T - - SMARCA4_000080 - PubMed: Witkowski L 2014 - - Germline - - - - - DNA SEQ - - ? FA2A PubMed: Witkowski L 2014 - F - - - - - - - 1 Julia Lopez
?/. - c.643C>T r.(?) p.(Gln215*) Parent #1 - VUS g.11097152C>T g.10986476C>T - - SMARCA4_000080 - PubMed: Witkowski L 2014 - - Germline - - - - - DNA SEQ - - ? FA2B PubMed: Witkowski L 2014 - F - - - - - - - 1 Julia Lopez
?/. - c.679G>A r.(?) p.(Ala227Thr) Unknown - VUS g.11097188G>A g.10986512G>A SMARCA4(NM_001128844.3):c.679G>A (p.A227T) - SMARCA4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.701C>T r.(?) p.(Pro234Leu) Unknown - likely benign g.11097210C>T g.10986534C>T SMARCA4(NM_001128844.1):c.701C>T (p.P234L) - SMARCA4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708_719dup r.(?) p.(Gly241_Pro244dup) Unknown - likely benign g.11097217_11097228dup g.10986541_10986552dup SMARCA4(NM_001128844.3):c.708_719dupTGGCCCCGGCCC (p.G241_P244dup) - SMARCA4_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.722_733del r.(?) p.(Gly241_Pro244del) Unknown - likely benign g.11097231_11097242del g.10986555_10986566del SMARCA4(NM_001128844.3):c.722_733delGTCCCGGCCCGG (p.G241_P244del) - SMARCA4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.722_735del r.(?) p.(Gly241Alafs*41) Parent #1 - VUS g.11097231_11097244del g.10986555_10986568del - - SMARCA4_000081 Refseq reported: SRS429514, SRS431657 PubMed: Ramos P 2014 - - Unknown - - - - - DNA SEQ - - ? - PubMed: Ramos P 2014 - F - - - - - - - 1 Julia Lopez
-?/. - c.761-3T>C r.spl? p.? Unknown - likely benign g.11097578T>C g.10986902T>C SMARCA4(NM_001128844.1):c.761-3T>C - SMARCA4_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778A>C r.(?) p.(Met260Leu) Unknown - VUS g.11097598A>C - SMARCA4(NM_003072.5):c.778A>C (p.(Met260Leu)) - SMARCA4_000221 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.782C>A r.(?) p.(Pro261His) Unknown - VUS g.11097602C>A - SMARCA4(NM_003072.5):c.782C>A (p.(Pro261His)) - SMARCA4_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797C>T r.(?) p.(Ser266Leu) Unknown - VUS g.11097617C>T g.10986941C>T SMARCA4(NM_001128844.1):c.797C>T (p.S266L), SMARCA4(NM_003072.5):c.797C>T (p.(Ser266Leu)) - SMARCA4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.797C>T r.(?) p.(Ser266Leu) Unknown - VUS g.11097617C>T - SMARCA4(NM_001128844.1):c.797C>T (p.S266L), SMARCA4(NM_003072.5):c.797C>T (p.(Ser266Leu)) - SMARCA4_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.800G>T r.(?) p.(Gly267Val) Unknown - VUS g.11097620G>T g.10986944G>T - - SMARCA4_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.802G>A r.(?) p.(Val268Met) Unknown - likely benign g.11097622G>A - SMARCA4(NM_001128849.3):c.802G>A (p.V268M) - SMARCA4_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.809_810del r.(?) p.(Pro270Argfs*16) Unknown - pathogenic g.11097629_11097630del g.10986953_10986954del NM_003072.2:c.805_806delCC - SMARCA4_000008 - PubMed: Medina 2008, PubMed: Medina 2005 - - Somatic - - - - - DNA SEQ - - - - - cell line - - - - - - - - 1 Johan den Dunnen
-/. - c.859+7T>A r.(=) p.(=) Unknown - benign g.11097686T>A g.10987010T>A SMARCA4(NM_001128844.1):c.859+7T>A (p.(=)), SMARCA4(NM_001128844.3):c.859+7T>A - SMARCA4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.859+7T>A r.(=) p.(=) Unknown - likely benign g.11097686T>A g.10987010T>A SMARCA4(NM_001128844.1):c.859+7T>A (p.(=)), SMARCA4(NM_001128844.3):c.859+7T>A - SMARCA4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.859+7T>A r.(=) p.(=) Unknown - benign g.11097686T>A - SMARCA4(NM_001128844.1):c.859+7T>A (p.(=)), SMARCA4(NM_001128844.3):c.859+7T>A - SMARCA4_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.859+30C>T r.(=) p.(=) Unknown - VUS g.11097709C>T g.10987033C>T - - SMARCA4_000021 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.859+30C>T r.(=) p.(=) Unknown - VUS g.11097709C>T g.10987033C>T - - SMARCA4_000021 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.860-33A>G r.(=) p.(=) Unknown - VUS g.11098309A>G g.10987633A>G - - SMARCA4_000022 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/. - c.872A>T r.(?) p.(Asn291Ile) Unknown - VUS g.11098354A>T g.10987678A>T SMARCA4(NM_001128844.1):c.872A>T (p.N291I) - SMARCA4_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.908T>C r.(?) p.(Ile303Thr) Unknown - VUS g.11098390T>C - SMARCA4(NM_003072.5):c.908T>C (p.(Ile303Thr)) - SMARCA4_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915G>A r.(?) p.(Pro305=) Unknown - benign g.11098397G>A g.10987721G>A SMARCA4(NM_001128844.3):c.915G>A (p.P305=) - SMARCA4_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.930C>A r.(?) p.(Arg310=) Unknown - benign g.11098412C>A g.10987736C>A SMARCA4(NM_001128844.1):c.930C>A (p.R310=) - SMARCA4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981A>C r.(?) p.(Pro327=) Unknown - likely benign g.11098463A>C g.10987787A>C SMARCA4(NM_001128844.1):c.981A>C (p.P327=), SMARCA4(NM_001128844.3):c.981A>C (p.P327=) - SMARCA4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.981A>C r.(?) p.(Pro327=) Unknown - benign g.11098463A>C - SMARCA4(NM_001128844.1):c.981A>C (p.P327=), SMARCA4(NM_001128844.3):c.981A>C (p.P327=) - SMARCA4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>T r.(?) p.(Pro336Leu) Unknown - VUS g.11098489C>T g.10987813C>T SMARCA4(NM_001128849.3):c.1007C>T (p.P336L), SMARCA4(NM_003072.3):c.1007C>T (p.(Pro336Leu)) - SMARCA4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>T r.(?) p.(Pro336Leu) Unknown - VUS g.11098489C>T - SMARCA4(NM_001128849.3):c.1007C>T (p.P336L), SMARCA4(NM_003072.3):c.1007C>T (p.(Pro336Leu)) - SMARCA4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1007C>T r.(?) p.(Pro336Leu) Unknown - likely benign g.11098489C>T - SMARCA4(NM_001128849.3):c.1007C>T (p.P336L), SMARCA4(NM_003072.3):c.1007C>T (p.(Pro336Leu)) - SMARCA4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1019C>T r.(?) p.(Ala340Val) Unknown - likely benign g.11098501C>T g.10987825C>T SMARCA4(NM_001128844.1):c.1019C>T (p.A340V) - SMARCA4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1075dup r.(?) p.(Arg359ProfsTer28) Unknown - pathogenic g.11098557dup g.10987881dup SMARCA4(NM_001128844.3):c.1075dupC (p.R359Pfs*28) - SMARCA4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1099C>T r.(?) p.(Leu367=) Unknown - likely benign g.11098581C>T - SMARCA4(NM_001128844.1):c.1099C>T (p.(Leu367=)) - SMARCA4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1114T>C r.(?) p.(Tyr372His) Unknown - benign g.11098596T>C g.10987920T>C SMARCA4(NM_001128844.1):c.1114T>C (p.(Tyr372His)), SMARCA4(NM_001128844.3):c.1114T>C (p.Y372H) - SMARCA4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114T>C r.(?) p.(Tyr372His) Unknown - likely benign g.11098596T>C g.10987920T>C SMARCA4(NM_001128844.1):c.1114T>C (p.(Tyr372His)), SMARCA4(NM_001128844.3):c.1114T>C (p.Y372H) - SMARCA4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1114T>C r.(?) p.(Tyr372His) Parent #1 - likely benign g.11098596T>C g.10987920T>C - - SMARCA4_000055 15 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140192268 Germline - 15/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 15 Mohammed Faruq
-?/. - c.1135G>A r.(?) p.(Ala379Thr) Unknown - likely benign g.11100009G>A - SMARCA4(NM_003072.3):c.1135G>A (p.(Ala379Thr)) - SMARCA4_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1141C>T r.(?) p.(Arg381*) Parent #1 - VUS g.11100015C>T g.10989339C>T - - SMARCA4_000082 - PubMed: Witkowski L 2014 - - Unknown - - - - - DNA SEQ - - ? UN7 PubMed: Witkowski L 2014 - F - - - - - - - 1 Julia Lopez
?/. - c.1224_1226delinsAG r.(?) p.(Leu409Glyfs*2) Parent #1 - VUS g.11100098_11100100delinsAG g.10989422_10989424delinsAG - - SMARCA4_000083 - PubMed: Witkowski L 2014 - - Unknown - - - - - DNA SEQ - - ? NF1 PubMed: Witkowski L 2014 - F - - - - - - - 1 Julia Lopez
-?/. - c.1344C>T r.(?) p.(Arg448=) Unknown - likely benign g.11101924C>T - SMARCA4(NM_001128844.1):c.1344C>T (p.R448=) - SMARCA4_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1349C>A r.(?) p.(Ala450Asp) Unknown - pathogenic (dominant) g.11101929C>A g.10991253C>A - - SMARCA4_000023 - PubMed: Santen 2013 - - De novo - - - - - DNA SEQ - - CSS Pat46 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
+?/. - c.1351C>T r.(?) p.(Arg451Cys) Unknown - likely pathogenic g.11101931C>T g.10991255C>T - - SMARCA4_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.1351C>T r.(?) p.(Arg451Cys) Unknown ACMG likely pathogenic (dominant) g.11101931C>T g.10991255C>T - - SMARCA4_000072 ACMG PS2, PM2, PP3, PP4 PubMed: Chen 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat103 PubMed: Chen 2022 - - - - - - - - - 1 Johan den Dunnen
+/. - c.1372_1395del r.(?) p.(Lys458_Glu465del) Unknown - pathogenic (dominant) g.11101952_11101975del g.10991276_10991299del - - SMARCA4_000048 - PubMed: Tsurusaki 2014 - - De novo - - - - - DNA SEQ - - CSS Pat32 PubMed: Tsurusaki 2014 - M - Japan - - - - - 1 Eline van der Sluijs
+?/. - c.1385T>C r.(?) p.(Ile462Thr) Unknown - likely pathogenic g.11101965T>C - SMARCA4(NM_003072.3):c.1385T>C (p.(Ile462Thr)) - SMARCA4_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.1413G>A r.(=) p.(=) Unknown - VUS g.11101993G>A g.10991317G>A - - SMARCA4_000024 - - - - Unknown - - - - - DNA SEQ - - CSS Pat55;Pat39;Pat329 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
-/. - c.1413G>A r.(?) p.(Lys471=) Unknown - benign g.11101993G>A g.10991317G>A SMARCA4(NM_001128844.3):c.1413G>A (p.K471=), SMARCA4(NM_003072.5):c.1413G>A (p.(Lys471=)) - SMARCA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1413G>A r.(?) p.(Lys471=) Unknown - likely benign g.11101993G>A - SMARCA4(NM_001128844.3):c.1413G>A (p.K471=), SMARCA4(NM_003072.5):c.1413G>A (p.(Lys471=)) - SMARCA4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1419+4C>T r.spl? p.? Unknown - likely benign g.11102003C>T g.10991327C>T SMARCA4(NM_001128844.1):c.1419+4C>T - SMARCA4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1419+7T>C r.(=) p.(=) Unknown - benign g.11102006T>C g.10991330T>C SMARCA4(NM_001128844.1):c.1419+7T>C, SMARCA4(NM_001128844.3):c.1419+7T>C - SMARCA4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1419+7T>C r.(=) p.(=) Unknown - benign g.11102006T>C - SMARCA4(NM_001128844.1):c.1419+7T>C, SMARCA4(NM_001128844.3):c.1419+7T>C - SMARCA4_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.1419+8C>T r.(=) p.(=) Unknown - VUS g.11102007C>T g.10991331C>T - - SMARCA4_000025 - - - - Unknown - - - - - DNA SEQ - - CAAHD, CSS, EPM1A, IVA, JBS, JBTS1, JBTS13, KTZS, LCCS1, MCLMR, MDDGC5;LGMDR9;LGMD2I, PSORS, USH3B Pat2 PubMed: Santen 2013 - M - - - - - - - 1 Gijs Santen
-?/. - c.1419+8C>T r.(=) p.(=) Unknown - likely benign g.11102007C>T g.10991331C>T SMARCA4(NM_001128844.1):c.1419+8C>T (p.(=)) - SMARCA4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.1419+9C>T r.(=) p.(=) Unknown - VUS g.11102008C>T g.10991332C>T - - SMARCA4_000026 - - - - Unknown - - - - - DNA SEQ - - CSS Pat51;Pat34;Pat328 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
-?/. - c.1419+9C>T r.(=) p.(=) Unknown - likely benign g.11102008C>T g.10991332C>T SMARCA4(NM_001128844.1):c.1419+9C>T (p.(=)) - SMARCA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1419+9C>T r.(=) p.(=) Unknown - likely benign g.11102008C>T - SMARCA4(NM_001128844.1):c.1419+9C>T (p.(=)) - SMARCA4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1420-1588C>T r.(=) p.(=) Unknown - likely benign g.11103916C>T - SMARCA4(NM_003072.5):c.1420-1588C>T - SMARCA4_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1420-414C>T r.(=) p.(=) Unknown - likely benign g.11105090C>T - SMARCA4(NM_003072.5):c.1420-414C>T - SMARCA4_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1420-15del r.(=) p.(=) Unknown - likely benign g.11105489del g.10994813del SMARCA4(NM_001128844.3):c.1420-15delT - SMARCA4_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.1509A>G r.(=) p.(=) Unknown - VUS g.11105593A>G g.10994917A>G - - SMARCA4_000027 - - - - Unknown - - - - - DNA SEQ - - CSS Pat55;Pat39;Pat329 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
-/. - c.1509A>G r.(?) p.(Ala503=) Unknown - benign g.11105593A>G g.10994917A>G SMARCA4(NM_001128844.3):c.1509A>G (p.A503=), SMARCA4(NM_003072.5):c.1509A>G (p.(Ala503=)) - SMARCA4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1509A>G r.(?) p.(Ala503=) Unknown - likely benign g.11105593A>G - SMARCA4(NM_001128844.3):c.1509A>G (p.A503=), SMARCA4(NM_003072.5):c.1509A>G (p.(Ala503=)) - SMARCA4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1513G>A r.(?) p.(Ala505Thr) Unknown - VUS g.11105597G>A - SMARCA4(NM_003072.3):c.1513G>A (p.(Ala505Thr)) - SMARCA4_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.1524T>C r.(=) p.(=) Unknown - VUS g.11105608T>C g.10994932T>C - - SMARCA4_000038 - - - - Unknown - - - - - DNA SEQ - - CSS Pat10;Pat1;Pat256 PubMed: Santen 2013, PubMed: van der Sluijs 2019, van der Sluijs 2024 (submitted) - F - - - - - - - 1 Gijs Santen
?/? - c.1524T>C r.(=) p.(=) Unknown - VUS g.11105608T>C g.10994932T>C - - SMARCA4_000038 - - - - Unknown - - - - - DNA SEQ - - CSS Pat16;Pat5 PubMed: Santen 2013, PubMed: van der Sluijs 2019 - M - - - - - - - 1 Gijs Santen
?/? - c.1524T>C r.(=) p.(=) Unknown - VUS g.11105608T>C g.10994932T>C - - SMARCA4_000038 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
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