Full data view for gene SMARCA2

Information The variants shown are described using the NM_003070.3 transcript reference sequence.

295 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.? - r.(?) p.(Glu852Asp) Parent #1 g.? - p.(Glu852Asp), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/. - c.? - r.(?) p.(Phe903Leu) Parent #1 g.? - p.(Phe903Leu), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/. - c.? - r.(?) p.(Gly881Arg) Parent #1 g.? - p.(Gly881Arg), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/. - c.? - r.(?) p.(Leu946Phe) Parent #1 g.? - p.(Leu946Phe), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/. - c.? - r.(?) p.(Ser1146Arg) Parent #1 g.? - p.(Ser1146Arg), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
./. - c.-1811337_*6006260del - r.0? p.0? Unknown g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
?/? - c.-5G>A - r.(=) p.(=) Unknown g.2029018G>A - - - SMARCA2_000054 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.-5G>A - r.(=) p.(=) Unknown g.2029018G>A - - - SMARCA2_000054 - - - - Unknown - - - - - DNA SEQ - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B - - - M - - - - - - - 1 Gijs Santen
?/? - c.-5G>A - r.(=) p.(=) Unknown g.2029018G>A - - - SMARCA2_000054 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/. - c.47C>T VUS r.(?) p.(Ser16Leu) Unknown g.2029069C>T - SMARCA2(NM_003070.3):c.47C>T (p.(Ser16Leu)) - SMARCA2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161C>T VUS r.(?) p.(Ser54Phe) Unknown g.2029183C>T - SMARCA2(NM_003070.3):c.161C>T (p.(Ser54Phe)) - SMARCA2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.310C>T likely benign r.(?) p.(Pro104Ser) Unknown g.2033036C>T - SMARCA2(NM_003070.3):c.310C>T (p.(Pro104Ser)) - SMARCA2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.335C>A likely benign r.(?) p.(Pro112Gln) Unknown g.2033061C>A - SMARCA2(NM_003070.3):c.335C>A (p.(Pro112Gln)) - SMARCA2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T VUS r.(?) p.(His124Tyr) Unknown g.2039480C>T - SMARCA2(NM_003070,NM_139045,NM_001289397,NM_001289396):c.370C>T (p.His124Tyr) - SMARCA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511C>A VUS r.(?) p.(Pro171Thr) Unknown g.2039621C>A - SMARCA2(NM_003070.4):c.511C>A (p.P171T) - SMARCA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.666A>G likely benign r.(?) p.(=) Unknown g.2039776A>G - SMARCA2(NM_003070.4):c.666_669delACAGinsGCAG (p.Q222_Q223=) - SMARCA2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667_668insCAG likely benign r.(?) p.(Gln223delinsProGlu) Unknown g.2039777_2039778insCAG - SMARCA2(NM_003070.3):c.667_669dup (p.(Gln223dup), p.(Gln225dup), p.(Gln227dup)) - SMARCA2_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.667_668insCAGCAG likely benign r.(?) p.(Gln223delinsProAlaGlu) Unknown g.2039777_2039778insCAGCAG - SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)) - SMARCA2_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.667_668insCAGCAGCAG VUS r.(?) p.(Gln223delinsProAlaAlaGlu) Unknown g.2039777_2039778insCAGCAGCAG - SMARCA2(NM_003070.3):c.666_667insCAGCAGCAG (p.(Gln220_Gln222dup), p.(Gln221_Gln223dup)) - SMARCA2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668_669del VUS r.(?) p.(Gln223Profs*35) Unknown g.2039778_2039779del - SMARCA2(NM_003070.4):c.668_669delAG (p.Q223Pfs*35) - SMARCA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.678_707del VUS r.(?) p.(Gln229_Gln238del) Unknown g.2039788_2039817del - SMARCA2(NM_003070.3):c.667_696del (p.(Gln229_Gln238del)) - SMARCA2_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.683A>C - r.(?) p.(Gln228Pro) Unknown g.2039793A>C - - - SMARCA2_000040 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.683A>C - r.(?) p.(Gln228Pro) Unknown g.2039793A>C - - - SMARCA2_000040 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
-?/. - c.683A>C likely benign r.(?) p.(Gln228Pro) Unknown g.2039793A>C - SMARCA2(NM_003070.3):c.683A>C (p.(Gln228Pro)) - SMARCA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685_686insCGC benign r.(?) p.(Gln228_Gln229insPro) Unknown g.2039795_2039796insCGC - SMARCA2(NM_003070.4):c.685_686insCGC (p.Q228_Q229insP) - SMARCA2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693_707del likely benign r.(?) p.(Gln234_Gln238del) Unknown g.2039803_2039817del - SMARCA2(NM_003070.3):c.667_681del (p.(Gln234_Gln238del), p.(Gln228_Gln232del)) - SMARCA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.695A>C likely benign r.(?) p.(Gln232Pro) Unknown g.2039805A>C - SMARCA2(NM_003070.3):c.695A>C (p.(Gln232Pro)) - SMARCA2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.696_707del VUS r.(?) p.(Gln235_Gln238del) Unknown g.2039806_2039817del - SMARCA2(NM_003070.3):c.667_678del (p.(Gln227_Gln230del)) - SMARCA2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707del likely benign r.(?) p.(Gln236_Gln238del) Unknown g.2039809_2039817del - SMARCA2(NM_003070.4):c.699_707delGCAGCAGCA (p.Q236_Q238del) - SMARCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707del likely benign r.(?) p.(Gln236_Gln238del) Unknown g.2039809_2039817del - SMARCA2(NM_003070.4):c.699_707delGCAGCAGCA (p.Q236_Q238del) - SMARCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.699_707dup VUS - - Unknown g.2039809_2039817dup - SMARCA2:NM_003070.3:c.666_667insCAGCAGCAG, NM_139045.2:c.666_667insCAGCAGCAG - SMARCA2_000064 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707dup likely benign r.(?) p.(Gln236_Gln238dup) Unknown g.2039809_2039817dup - SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup) - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699_707dup benign r.(?) p.(Gln236_Gln238dup) Unknown g.2039809_2039817dup - SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup) - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699_707dup benign r.(?) p.(Gln236_Gln238dup) Unknown g.2039809_2039817dup - SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup) - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702_707del likely benign r.(?) p.(Gln237_Gln238del) Unknown g.2039812_2039817del - SMARCA2(NM_003070.3):c.670_675del (p.(Gln226_Gln227del)) - SMARCA2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702_707dup likely benign r.(?) p.(Gln237_Gln238dup) Unknown g.2039812_2039817dup - SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702_707dup benign r.(?) p.(Gln237_Gln238dup) Unknown g.2039812_2039817dup - SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702_707dup benign r.(?) p.(Gln237_Gln238dup) Unknown g.2039812_2039817dup - SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del benign r.(?) p.(Gln238del) Unknown g.2039815_2039817del - SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del benign r.(?) p.(Gln238del) Unknown g.2039815_2039817del - SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.705_707del likely benign r.(?) p.(Gln238del) Unknown g.2039815_2039817del - SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del benign r.(?) p.(Gln238del) Unknown g.2039815_2039817del - SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.705_707del VUS r.(?) p.(Gln238del) Unknown g.2039815_2039817del - SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.705_707dup benign r.(?) p.(Gln238dup) Unknown g.2039815_2039817dup - SMARCA2(NM_003070.4):c.705_707dupGCA (p.Q238dup) - SMARCA2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705_707dup benign r.(?) p.(Gln238dup) Unknown g.2039815_2039817dup - SMARCA2(NM_003070.4):c.705_707dupGCA (p.Q238dup) - SMARCA2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708A>G likely benign r.(?) p.(=) Unknown g.2039818A>G - SMARCA2(NM_003070.4):c.708A>G (p.Q236=) - SMARCA2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? - c.716_724dup - r.(?) p.(Pro239_Gln241dup) Unknown g.2039826_2039834dup - - - SMARCA2_000041 - - - - Unknown - - - - - DNA SEQ - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B - - - M - - - - - - - 1 Gijs Santen
-?/. - c.731C>T likely benign r.(?) p.(Pro244Leu) Unknown g.2039841C>T - SMARCA2(NM_003070.3):c.731C>T (p.(Pro244Leu)) - SMARCA2_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A VUS r.(?) p.(Ala282Thr) Unknown g.2047282G>A - SMARCA2(NM_003070.3):c.844G>A (p.(Ala282Thr)) - SMARCA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1012G>A likely benign r.(?) p.(Asp338Asn) Unknown g.2047450G>A - SMARCA2(NM_003070.3):c.1012G>A (p.(Asp338Asn)) - SMARCA2_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>C VUS r.(?) p.(Val340Leu) Unknown g.2047456G>C - SMARCA2(NM_003070.4):c.1018G>C (p.V340L) - SMARCA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
./. - c.1514G>A - r.(?) p.(Arg505Gln) Unknown g.2058457G>A - - - SMARCA2_000058 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/? - c.1522-48T>C - r.(=) p.(=) Unknown g.2060768T>C - - - SMARCA2_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1573C>T - r.(?) p.(Arg525Cys) Unknown g.2060867C>T - - - SMARCA2_000057 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
+/. - c.1573C>T pathogenic r.(?) p.(Arg525Cys) Unknown g.2060867C>T - SMARCA2(NM_001289396.1):c.1573C>T (p.(Arg525Cys)) - SMARCA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1574G>A - r.(?) p.(Arg525His) Unknown g.2060868G>A - - - SMARCA2_000056 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.1746+8A>G likely benign r.(=) p.(=) Unknown g.2070479A>G - SMARCA2(NM_003070.3):c.1746+8A>G (p.(=)) - SMARCA2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1827A>G benign r.(?) p.(=) Unknown g.2073292A>G - SMARCA2(NM_003070.4):c.1827A>G (p.P609=) - SMARCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2037-9C>T likely benign r.(=) p.(=) Unknown g.2077620C>T - SMARCA2(NM_003070.4):c.2037-9C>T - SMARCA2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2226_2231delinsT - r.(?) p.(Leu743Argfs*6) Unknown g.2081873_2081878delinsT - - - SMARCA2_000095 - - - - Unknown - - - 0 - DNA SEQ - - - - - - F - (Germany) - - 0 - - 1 IMGAG
+/? 15 c.2255G>C - r.(?) p.(Gly752Ala) Unknown g.2081902G>C - - - SMARCA2_000019 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - DNA SEQ - - NCBRS - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. 15 c.2255G>C - r.(?) p.(Gly752Ala) Parent #1 g.2081902G>C - p.(Gly752Ala), not specified - SMARCA2_000019 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/. 15 c.2255G>C - r.(?) p.(Gly752Ala) Parent #1 g.2081902G>C - p.(G752A), not specified - SMARCA2_000019 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
+/? 15 c.2264A>G - r.(?) p.(Lys755Arg) Unknown g.2081911A>G - - - SMARCA2_000024 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - DNA SEQ - - NCBRS - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. 15 c.2264A>G - r.(?) p.(Lys755Arg) Parent #1 g.2081911A>G - p.(Lys755Arg), not specified - SMARCA2_000024 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
+/? 15 c.2267C>T - r.(?) p.(Thr756Ile) Unknown g.2081914C>T - - - SMARCA2_000012 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - DNA SEQ - - NCBRS - - - - - - - - 0 - - 1 SIB - Livia Famiglietti
?/. 15 c.2267C>T - r.(?) p.(Thr756Ile) Parent #1 g.2081914C>T - p(.T756I), not specified - SMARCA2_000012 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/. 15 c.2348C>G - r.(?) p.(Ser783Trp) Parent #1 g.2081995C>G - p.(Ser783Trp), not specified - SMARCA2_000097 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - 0 - - 1 Julia Lopez
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LAAHD, LCCS-1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - NCBRS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - NCBRS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del - r.(=) p.(=) Unknown g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
-/. - c.2349-10dup benign r.(=) p.(=) Unknown g.2083337dup - SMARCA2(NM_003070.4):c.2349-10dupT - SMARCA2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? - c.2349-9del - r.(=) p.(=) Unknown g.2083338del - - - SMARCA2_000042 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
-?/. - c.2349-6C>T likely benign r.(=) p.(=) Unknown g.2083341C>T - SMARCA2(NM_003070.3):c.2349-6C>T (p.(=)) - SMARCA2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2349-5C>T likely benign r.spl? p.? Unknown g.2083342C>T - SMARCA2(NM_003070.3):c.2349-5C>T (p.?) - SMARCA2_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2349-4A>T likely benign r.spl? p.? Unknown g.2083343A>T - SMARCA2(NM_003070.3):c.2349-4A>T (p.?) - SMARCA2_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2431C>T likely pathogenic r.(?) p.(Arg811Cys) Unknown g.2084101C>T - SMARCA2():c.2431C>T (p.(Arg811Cys)) - SMARCA2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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