Full data view for gene SMARCA2

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

405 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.-1811337_*6006260del r.0? p.0? Unknown - pathogenic g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected mother/child F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/? - c.-5G>A r.(=) p.(=) Unknown - VUS g.2029018G>A g.2029018G>A - - SMARCA2_000054 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.-5G>A r.(=) p.(=) Unknown - VUS g.2029018G>A g.2029018G>A - - SMARCA2_000054 - - - - 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.-5G>A r.(=) p.(=) Unknown - VUS g.2029018G>A g.2029018G>A - - SMARCA2_000054 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/. - c.? r.(?) p.(Glu852Asp) Parent #1 - VUS g.? - p.(Glu852Asp), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - - - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - - - - 1 Julia Lopez
?/. - c.? r.(?) p.(Phe903Leu) Parent #1 - VUS g.? - p.(Phe903Leu), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - - - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - - - - 1 Julia Lopez
?/. - c.? r.(?) p.(Gly881Arg) Parent #1 - VUS g.? - p.(Gly881Arg), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - - - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - - - - 1 Julia Lopez
?/. - c.? r.(?) p.(Leu946Phe) Parent #1 - VUS g.? - p.(Leu946Phe), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - - - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - - - - 1 Julia Lopez
?/. - c.? r.(?) p.(Ser1146Arg) Parent #1 - VUS g.? - p.(Ser1146Arg), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - - - DNA SEQ - - NCBRS - PubMed: Sousa SB 2014 - - - - - - - - - 1 Julia Lopez
?/. - c.8C>T r.(?) p.(Thr3Met) Unknown - VUS g.2029030C>T g.2029030C>T SMARCA2(NM_003070.3):c.8C>T (p.(Thr3Met)), SMARCA2(NM_003070.4):c.8C>T (p.T3M) - SMARCA2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.8C>T r.(?) p.(Thr3Met) Unknown - likely benign g.2029030C>T g.2029030C>T SMARCA2(NM_003070.3):c.8C>T (p.(Thr3Met)), SMARCA2(NM_003070.4):c.8C>T (p.T3M) - SMARCA2_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.47C>T r.(?) p.(Ser16Leu) Unknown - VUS g.2029069C>T g.2029069C>T SMARCA2(NM_003070.3):c.47C>T (p.(Ser16Leu)) - SMARCA2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91C>T r.(?) p.(Pro31Ser) Unknown - VUS g.2029113C>T - SMARCA2(NM_003070.3):c.91C>T (p.(Pro31Ser)) - SMARCA2_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97C>G r.(?) p.(Pro33Ala) Unknown - likely benign g.2029119C>G - SMARCA2(NM_003070.3):c.97C>G (p.(Pro33Ala)) - SMARCA2_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - VUS g.2029119C>T - SMARCA2(NM_003070.4):c.97C>T (p.P33S), SMARCA2(NM_003070.5):c.97C>T (p.P33S) - SMARCA2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.97C>T r.(?) p.(Pro33Ser) Unknown - likely benign g.2029119C>T - SMARCA2(NM_003070.4):c.97C>T (p.P33S), SMARCA2(NM_003070.5):c.97C>T (p.P33S) - SMARCA2_000168 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.161C>T r.(?) p.(Ser54Phe) Unknown - VUS g.2029183C>T g.2029183C>T SMARCA2(NM_003070.3):c.161C>T (p.(Ser54Phe)) - SMARCA2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175A>T r.(?) p.(Thr59Ser) Unknown - likely benign g.2029197A>T - SMARCA2(NM_003070.3):c.175A>T (p.(Thr59Ser)) - SMARCA2_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.310C>T r.(?) p.(Pro104Ser) Unknown - VUS g.2033036C>T g.2033036C>T SMARCA2(NM_003070.3):c.310C>T (p.(Pro104Ser)) - SMARCA2_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.335C>A r.(?) p.(Pro112Gln) Unknown - VUS g.2033061C>A g.2033061C>A SMARCA2(NM_003070.3):c.335C>A (p.(Pro112Gln)) - SMARCA2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355+10C>T r.(=) p.(=) Unknown - likely benign g.2033091C>T - SMARCA2(NM_003070.5):c.355+10C>T - SMARCA2_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.370C>T r.(?) p.(His124Tyr) Unknown - VUS g.2039480C>T g.2039480C>T - - SMARCA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.400G>A r.(?) p.(Val134Ile) Unknown - likely benign g.2039510G>A - SMARCA2(NM_003070.5):c.400G>A (p.V134I) - SMARCA2_000179 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.436C>T r.(?) p.(Pro146Ser) Unknown - VUS g.2039546C>T - SMARCA2(NM_003070.5):c.436C>T (p.P146S) - SMARCA2_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.471C>G r.(?) p.(Ile157Met) Unknown - VUS g.2039581C>G - SMARCA2(NM_003070.5):c.471C>G (p.(Ile157Met)) - SMARCA2_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483G>T r.(?) p.(Pro161=) Unknown - likely benign g.2039593G>T - SMARCA2(NM_003070.4):c.483G>T (p.P161=) - SMARCA2_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>A r.(?) p.(Pro171Thr) Unknown - VUS g.2039621C>A g.2039621C>A SMARCA2(NM_003070.5):c.511C>A (p.P171T) - SMARCA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666A>G r.(?) p.(Gln222=) Unknown - likely benign g.2039776A>G g.2039776A>G SMARCA2(NM_003070.4):c.666_669delACAGinsGCAG (p.Q222_Q223=) - SMARCA2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666_668del r.(?) p.(Gln238del) Unknown - likely benign g.2039776_2039778del - SMARCA2(NM_003070.5):c.666_668delACA (p.Q238del) - SMARCA2_000217 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.666_677del r.(?) p.(Gln235_Gln238del) Unknown - likely benign g.2039776_2039787del - SMARCA2(NM_003070.4):c.666_677delACAGCAGCAGCA (p.Q235_Q238del) - SMARCA2_000169 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668_669del r.(?) p.(Gln223ProfsTer35) Unknown - VUS g.2039778_2039779del g.2039778_2039779del SMARCA2(NM_003070.5):c.668_669delAG (p.Q223Pfs*35) - SMARCA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.674_675del r.(?) p.(Gln225Profs*33) Unknown - likely benign g.2039784_2039785del - SMARCA2(NM_003070.5):c.674_675del (p.(Gln225Profs*33)) - SMARCA2_000190 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.677A>C r.(?) p.(Gln226Pro) Unknown - likely benign g.2039787A>C - SMARCA2(NM_003070.3):c.677A>C (p.(Gln226Pro)) - SMARCA2_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.681G>A r.(?) p.(Gln227=) Unknown - likely benign g.2039791G>A - SMARCA2(NM_003070.4):c.681G>A (p.Q227=) - SMARCA2_000170 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.681_707dup r.(?) p.(Gln230_Gln238dup) Unknown - VUS g.2039791_2039817dup - SMARCA2(NM_003070.5):c.681_707dupGCAGCAGCAGCAGCAGCAGCAGCAGCA (p.Q230_Q238dup) - SMARCA2_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.682_683insCGC r.(?) p.(Gln227_Gln228insPro) Unknown - VUS g.2039792_2039793insCGC - SMARCA2(NM_003070.3):c.682_683insCGC (p.(Gln227_Gln228insPro)) - SMARCA2_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.683A>C r.(?) p.(Gln228Pro) Unknown - VUS g.2039793A>C g.2039793A>C - - SMARCA2_000040 - - - - Unknown - - - - - DNA SEQ - - CSS Pat18 PubMed: Santen 2013 - F - - - - - - - 1 Gijs Santen
?/? - c.683A>C r.(?) p.(Gln228Pro) Unknown - VUS g.2039793A>C g.2039793A>C - - SMARCA2_000040 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
-?/. - c.683A>C r.(?) p.(Gln228Pro) Unknown - likely benign g.2039793A>C g.2039793A>C SMARCA2(NM_003070.5):c.683A>C (p.(Gln228Pro)) - SMARCA2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685_686insCGC r.(?) p.(Gln228_Gln229insPro) Unknown - benign g.2039795_2039796insCGC g.2039795_2039796insCGC SMARCA2(NM_003070.4):c.685_686insCGC (p.Q228_Q229insP), SMARCA2(NM_003070.5):c.685_686insCGC (p.(Gln228_Gln229insPro)), SMARCA2(NM_003070.5):c.685_... - SMARCA2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685_686insCGC r.(?) p.(Gln228_Gln229insPro) Unknown - benign g.2039795_2039796insCGC g.2039795_2039796insCGC SMARCA2(NM_003070.4):c.685_686insCGC (p.Q228_Q229insP), SMARCA2(NM_003070.5):c.685_686insCGC (p.(Gln228_Gln229insPro)), SMARCA2(NM_003070.5):c.685_... - SMARCA2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685_686insCGC r.(?) p.(Gln228_Gln229insPro) Unknown - likely benign g.2039795_2039796insCGC - SMARCA2(NM_003070.4):c.685_686insCGC (p.Q228_Q229insP), SMARCA2(NM_003070.5):c.685_686insCGC (p.(Gln228_Gln229insPro)), SMARCA2(NM_003070.5):c.685_... - SMARCA2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686_687del r.(?) p.(Gln229Profs*29) Unknown - VUS g.2039796_2039797del - SMARCA2(NM_003070.5):c.686_687del (p.(Gln229ProfsTer29)) - SMARCA2_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.686_715del r.(?) p.(Gln229_Gln238del) Unknown - VUS g.2039796_2039825del - SMARCA2(NM_003070.5):c.686_715delAGCAGCAGCAGCAGCAGCAGCAACAGCAGC (p.Q229_Q238del) - SMARCA2_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.687_707del r.(?) p.(Gln232_Gln238del) Unknown - VUS g.2039797_2039817del - SMARCA2(NM_003070.4):c.687_707delGCAGCAGCAGCAGCAGCAGCA (p.Q232_Q238del) - SMARCA2_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.689A>C r.(?) p.(Gln230Pro) Unknown - likely benign g.2039799A>C - SMARCA2(NM_003070.4):c.689A>C (p.Q230P) - SMARCA2_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.689del r.(?) p.(Gln230Argfs*40) Unknown - VUS g.2039799del - SMARCA2(NM_003070.5):c.689del (p.(Gln230ArgfsTer40)) - SMARCA2_000192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.690_707del r.(?) p.(Gln233_Gln238del) Unknown - VUS g.2039800_2039817del - SMARCA2(NM_003070.5):c.690_707delGCAGCAGCAGCAGCAGCA (p.Q233_Q238del) - SMARCA2_000218 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693_707del r.(?) p.(Gln234_Gln238del) Unknown - likely benign g.2039803_2039817del g.2039803_2039817del SMARCA2(NM_003070.3):c.667_681del (p.(Gln228_Gln232del)), SMARCA2(NM_003070.5):c.693_707delGCAGCAGCAGCAGCA (p.Q234_Q238del) - SMARCA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.693_707del r.(?) p.(Gln234_Gln238del) Unknown - likely benign g.2039803_2039817del g.2039803_2039817del SMARCA2(NM_003070.3):c.667_681del (p.(Gln228_Gln232del)), SMARCA2(NM_003070.5):c.693_707delGCAGCAGCAGCAGCA (p.Q234_Q238del) - SMARCA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695A>C r.(?) p.(Gln232Pro) Unknown - likely benign g.2039805A>C - SMARCA2(NM_003070.4):c.695A>C (p.Q232P) - SMARCA2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.695_715del r.(?) p.(Gln232_Gln238del) Unknown - likely benign g.2039805_2039825del - SMARCA2(NM_003070.5):c.695_715delAGCAGCAGCAGCAACAGCAGC (p.Q232_Q238del) - SMARCA2_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.696_707del r.(?) p.(Gln235_Gln238del) Unknown - likely benign g.2039806_2039817del g.2039806_2039817del SMARCA2(NM_003070.3):c.667_678del (p.(Gln227_Gln230del)) - SMARCA2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.696_707dup r.(?) p.(Gln235_Gln238dup) Unknown - VUS g.2039806_2039817dup - SMARCA2(NM_003070.5):c.696_707dup (p.(Gln235_Gln238dup)), SMARCA2(NM_003070.5):c.696_707dupGCAGCAGCAGCA (p.Q235_Q238dup) - SMARCA2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.696_707dup r.(?) p.(Gln235_Gln238dup) Unknown - VUS g.2039806_2039817dup - SMARCA2(NM_003070.5):c.696_707dup (p.(Gln235_Gln238dup)), SMARCA2(NM_003070.5):c.696_707dupGCAGCAGCAGCA (p.Q235_Q238dup) - SMARCA2_000177 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.698A>C r.(?) p.(Gln233Pro) Unknown - likely benign g.2039808A>C - SMARCA2(NM_003070.3):c.698A>C (p.(Gln233Pro)) - SMARCA2_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707del r.(?) p.(Gln236_Gln238del) Unknown - likely benign g.2039809_2039817del g.2039809_2039817del SMARCA2(NM_003070.3):c.667_675del (p.(Gln226_Gln228del)), SMARCA2(NM_003070.4):c.699_707delGCAGCAGCA (p.Q236_Q238del), SMARCA2(NM_003070.5):c.699_7... - SMARCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707del r.(?) p.(Gln236_Gln238del) Unknown - likely benign g.2039809_2039817del g.2039809_2039817del SMARCA2(NM_003070.3):c.667_675del (p.(Gln226_Gln228del)), SMARCA2(NM_003070.4):c.699_707delGCAGCAGCA (p.Q236_Q238del), SMARCA2(NM_003070.5):c.699_7... - SMARCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707del r.(?) p.(Gln236_Gln238del) Unknown - likely benign g.2039809_2039817del - SMARCA2(NM_003070.3):c.667_675del (p.(Gln226_Gln228del)), SMARCA2(NM_003070.4):c.699_707delGCAGCAGCA (p.Q236_Q238del), SMARCA2(NM_003070.5):c.699_7... - SMARCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707dup r.(?) p.(Gln236_Gln238dup) Unknown - likely benign g.2039809_2039817dup g.2039809_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAGCAG (p.(Gln221_Gln223dup)), SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup), SMARCA2(NM_003070....) - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.699_707dup r.(?) p.(Gln236_Gln238dup) Unknown - likely benign g.2039809_2039817dup g.2039809_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAGCAG (p.(Gln221_Gln223dup)), SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup), SMARCA2(NM_003070....) - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699_707dup r.(?) p.(Gln236_Gln238dup) Unknown - benign g.2039809_2039817dup g.2039809_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAGCAG (p.(Gln221_Gln223dup)), SMARCA2(NM_003070.4):c.699_707dupGCAGCAGCA (p.Q236_Q238dup), SMARCA2(NM_003070....) - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702_707del r.(?) p.(Gln237_Gln238del) Unknown - likely benign g.2039812_2039817del - SMARCA2(NM_003070.5):c.702_707delGCAGCA (p.Q237_Q238del) - SMARCA2_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) Unknown - likely benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup), SMARCA2(NM_003070.5):c.70... - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) Unknown - benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup), SMARCA2(NM_003070.5):c.70... - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) Unknown - benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup), SMARCA2(NM_003070.5):c.70... - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) Unknown - likely benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup), SMARCA2(NM_003070.5):c.70... - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del r.(?) p.(Gln238del) Unknown - benign g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln225del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del), SMARCA2(NM_003070.5):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705_707del r.(?) p.(Gln238del) Unknown - likely benign g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln225del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del), SMARCA2(NM_003070.5):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del r.(?) p.(Gln238del) Unknown - benign g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln225del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del), SMARCA2(NM_003070.5):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.705_707del r.(?) p.(Gln238del) Unknown - VUS g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln225del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del), SMARCA2(NM_003070.5):c.705_707delGCA (p.Q238del) - SMARCA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.705_707dup r.(?) p.(Gln238dup) Unknown - benign g.2039815_2039817dup g.2039815_2039817dup SMARCA2(NM_003070.3):c.667_669dup (p.(Gln223dup)), SMARCA2(NM_003070.4):c.705_707dupGCA (p.Q238dup), SMARCA2(NM_003070.5):c.705_707dupGCA (p.Q238dup) - SMARCA2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705_707dup r.(?) p.(Gln238dup) Unknown - likely benign g.2039815_2039817dup g.2039815_2039817dup SMARCA2(NM_003070.3):c.667_669dup (p.(Gln223dup)), SMARCA2(NM_003070.4):c.705_707dupGCA (p.Q238dup), SMARCA2(NM_003070.5):c.705_707dupGCA (p.Q238dup) - SMARCA2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705_707dup r.(?) p.(Gln238dup) Unknown - likely benign g.2039815_2039817dup g.2039815_2039817dup SMARCA2(NM_003070.3):c.667_669dup (p.(Gln223dup)), SMARCA2(NM_003070.4):c.705_707dupGCA (p.Q238dup), SMARCA2(NM_003070.5):c.705_707dupGCA (p.Q238dup) - SMARCA2_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708A>G r.(?) p.(Gln236=) Unknown - likely benign g.2039818A>G g.2039818A>G SMARCA2(NM_003070.4):c.708A>G (p.Q236=) - SMARCA2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.708A>T r.(?) p.(Gln236His) Unknown - VUS g.2039818A>T - SMARCA2(NM_003070.3):c.708A>T (p.(Gln236His)) - SMARCA2_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.708_710dup r.(?) p.(Gln238dup) Unknown - VUS g.2039818_2039820dup - SMARCA2(NM_003070.3):c.708_710dupACA (p.(Gln237dup)), SMARCA2(NM_003070.5):c.708_710dupACA (p.Q238dup) - SMARCA2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708_710dup r.(?) p.(Gln238dup) Unknown - likely benign g.2039818_2039820dup - SMARCA2(NM_003070.3):c.708_710dupACA (p.(Gln237dup)), SMARCA2(NM_003070.5):c.708_710dupACA (p.Q238dup) - SMARCA2_000180 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.716_724dup r.(?) p.(Pro239_Gln241dup) Unknown - VUS g.2039826_2039834dup g.2039826_2039834dup - - SMARCA2_000041 - - - - 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.717G>A r.(?) p.(Pro239=) Unknown - likely benign g.2039827G>A - SMARCA2(NM_001289396.1):c.717G>A (p.(Pro239=)) - SMARCA2_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.762G>A r.(?) p.(Pro254=) Unknown - likely benign g.2039872G>A - SMARCA2(NM_003070.4):c.762G>A (p.P254=) - SMARCA2_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.844G>A r.(?) p.(Ala282Thr) Unknown - VUS g.2047282G>A g.2047282G>A SMARCA2(NM_003070.3):c.844G>A (p.(Ala282Thr)), SMARCA2(NM_003070.4):c.844G>A (p.A282T) - SMARCA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.844G>A r.(?) p.(Ala282Thr) Unknown - likely benign g.2047282G>A - SMARCA2(NM_003070.3):c.844G>A (p.(Ala282Thr)), SMARCA2(NM_003070.4):c.844G>A (p.A282T) - SMARCA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.975G>C r.(?) p.(Gln325His) Unknown - VUS g.2047413G>C - SMARCA2(NM_003070.3):c.975G>C (p.(Gln325His)) - SMARCA2_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>C r.(?) p.(Val340Leu) Unknown - VUS g.2047456G>C g.2047456G>C SMARCA2(NM_003070.4):c.1018G>C (p.V340L), SMARCA2(NM_003070.5):c.1018G>C (p.(Val340Leu)) - SMARCA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>C r.(?) p.(Val340Leu) Unknown - VUS g.2047456G>C - SMARCA2(NM_003070.4):c.1018G>C (p.V340L), SMARCA2(NM_003070.5):c.1018G>C (p.(Val340Leu)) - SMARCA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1046+2814T>G r.(=) p.(=) Unknown - benign g.2050298T>G - SMARCA2(NM_003070.5):c.1046+2814T>G - SMARCA2_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1047-2165T>C r.(=) p.(=) Unknown - likely benign g.2052432T>C - SMARCA2(NM_003070.5):c.1047-2165T>C - SMARCA2_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1174-5G>A r.spl? p.? Unknown - likely benign g.2056667G>A - SMARCA2(NM_003070.5):c.1174-5G>A - SMARCA2_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1268_1269del r.(?) p.(Leu423Glnfs*16) Unknown - likely pathogenic g.2056766_2056767del - SMARCA2(NM_003070.3):c.1268_1269del (p.(Leu423Glnfs*16)) - SMARCA2_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282A>G r.(?) p.(Met428Val) Unknown - VUS g.2056780A>G g.2056780A>G SMARCA2(NM_003070.4):c.1282A>G (p.M428V), SMARCA2(NM_003070.5):c.1282A>G (p.(Met428Val)) - SMARCA2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1282A>G r.(?) p.(Met428Val) Unknown - VUS g.2056780A>G - SMARCA2(NM_003070.4):c.1282A>G (p.M428V), SMARCA2(NM_003070.5):c.1282A>G (p.(Met428Val)) - SMARCA2_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1312A>G r.(?) p.(Ile438Val) Unknown - likely benign g.2056810A>G - SMARCA2(NM_003070.3):c.1312A>G (p.(Ile438Val)) - SMARCA2_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1514G>A r.(?) p.(Arg505Gln) Unknown - pathogenic g.2058457G>A g.2058457G>A - - SMARCA2_000058 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/? - c.1522-48T>C r.(=) p.(=) Unknown - VUS g.2060768T>C g.2060768T>C - - SMARCA2_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1538G>T r.(?) p.(Gly513Val) Unknown ACMG pathogenic g.2060832G>T g.2060832G>T - - SMARCA2_000215 - - ClinVar-829812 rs1586660338 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
./. - c.1573C>T r.(?) p.(Arg525Cys) Unknown - pathogenic g.2060867C>T g.2060867C>T - - SMARCA2_000057 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.1573C>T r.(?) p.(Arg525Cys) Unknown - pathogenic g.2060867C>T g.2060867C>T - - SMARCA2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1574G>A r.(?) p.(Arg525His) Unknown - pathogenic g.2060868G>A g.2060868G>A - - SMARCA2_000056 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+/. - c.1596G>C r.(?) p.(Gln532His) Unknown - pathogenic g.2060890G>C - SMARCA2(NM_003070.5):c.1596G>C (p.Q532H) - SMARCA2_000216 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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