Full data view for gene SMARCA2

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

293 entries on 3 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.? r.(?) p.(Glu852Asp) Parent #1 - VUS 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 - VUS 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 - VUS 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 - VUS 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 - VUS 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 - pathogenic 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 - 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, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LCCS1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B - - - 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.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.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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.335C>A r.(?) p.(Pro112Gln) Unknown - likely benign g.2033061C>A 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 r.(?) p.(His124Tyr) Unknown - VUS g.2039480C>T g.2039480C>T - - SMARCA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.511C>A r.(?) p.(Pro171Thr) Unknown - VUS g.2039621C>A 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 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.668_669del r.(?) p.(Gln223ProfsTer35) Unknown - VUS g.2039778_2039779del g.2039778_2039779del SMARCA2(NM_003070.4):c.668_669delAG (p.Q223Pfs*35) - SMARCA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? - 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 - VUS g.2039793A>C g.2039793A>C - - SMARCA2_000040 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
-/. - 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_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_000119 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_003070.4):c.693_707delGCAGCAGCAGCAGCA (p.Q234_Q238del) - SMARCA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_003070.4):c.693_707delGCAGCAGCAGCAGCA (p.Q234_Q238del) - SMARCA2_000068 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_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - 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_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_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_000064 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_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_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_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_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.(Gln238del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del r.(?) p.(Gln238del) Unknown - benign g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln238del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.705_707del r.(?) p.(Gln238del) Unknown - likely benign g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln238del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.705_707del r.(?) p.(Gln238del) Unknown - benign g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln238del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.705_707del r.(?) p.(Gln238del) Unknown - VUS g.2039815_2039817del g.2039815_2039817del SMARCA2(NM_003070.3):c.667_669del (p.(Gln238del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - 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_000122 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_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_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_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 - - - 0 - - - - - - - - - - - - - - - - - - -
?/? - c.716_724dup r.(?) p.(Pro239_Gln241dup) Unknown - VUS g.2039826_2039834dup g.2039826_2039834dup - - SMARCA2_000041 - - - - Unknown - - - - - DNA SEQ - - CAAHD, CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LCCS1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B - - - M - - - - - - - 1 Gijs Santen
?/. - c.844G>A r.(?) p.(Ala282Thr) Unknown - VUS g.2047282G>A g.2047282G>A SMARCA2(NM_003070.3):c.844G>A (p.(Ala282Thr)) - SMARCA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1018G>C r.(?) p.(Val340Leu) Unknown - VUS g.2047456G>C g.2047456G>C SMARCA2(NM_003070.4):c.1018G>C (p.V340L) - SMARCA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1282A>G r.(?) p.(Met428Val) Unknown - VUS g.2056780A>G g.2056780A>G SMARCA2(NM_003070.4):c.1282A>G (p.M428V) - SMARCA2_000145 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 - - - 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 - VUS g.2060768T>C g.2060768T>C - - SMARCA2_000035 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1573C>T r.(?) p.(Arg525Cys) Unknown - pathogenic g.2060867C>T 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 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 - - - 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 r.(=) p.(=) Unknown - likely benign g.2070479A>G g.2070479A>G SMARCA2(NM_003070.3):c.1746+8A>G (p.(=)) - SMARCA2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1821C>T r.(?) p.(Phe607=) Unknown - likely benign g.2073286C>T g.2073286C>T SMARCA2(NM_003070.4):c.1821C>T (p.F607=) - SMARCA2_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1827A>G r.(?) p.(Pro609=) Unknown - benign g.2073292A>G 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 r.(=) p.(=) Unknown - likely benign g.2077620C>T g.2077620C>T SMARCA2(NM_003070.4):c.2037-9C>T - SMARCA2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2136G>A r.(?) p.(Val712=) Unknown - likely benign g.2077728G>A g.2077728G>A SMARCA2(NM_003070.4):c.2136G>A (p.V712=) - SMARCA2_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2226_2231delinsT r.(?) p.(Leu743Argfs*6) Unknown - likely pathogenic g.2081873_2081878delinsT g.2081873_2081878delinsT - - SMARCA2_000095 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
+/? 15 c.2255G>C r.(?) p.(Gly752Ala) Unknown - pathogenic g.2081902G>C 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 - VUS g.2081902G>C 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 - VUS g.2081902G>C 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 - pathogenic g.2081911A>G 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 - VUS g.2081911A>G 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 - pathogenic g.2081914C>T 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 - VUS g.2081914C>T 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 - VUS g.2081995C>G 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 - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CAAHD, CSS, EPM-1A, IVA, JBS, JBTS-1, JBTS-13, KTZS, LCCS1, LGMD-2I;MDDGC-5, MCLMR, PSORS, USH-3B - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - NCBRS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - NCBRS - - - M - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
?/? - c.2349-10del r.(=) p.(=) Unknown - VUS g.2083337del g.2083337del - - SMARCA2_000036 - - - - Unknown - - - - - DNA SEQ - - CSS - - - M - - - - - - - 1 Gijs Santen
-/. - c.2349-10dup r.(=) p.(=) Unknown - benign g.2083337dup 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 - VUS g.2083338del g.2083338del - - SMARCA2_000042 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
-?/. - c.2349-6C>T r.(=) p.(=) Unknown - likely benign g.2083341C>T g.2083341C>T SMARCA2(NM_003070.3):c.2349-6C>T (p.(=)) - SMARCA2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2431C>T r.(?) p.(Arg811Cys) Unknown - likely pathogenic g.2084101C>T g.2084101C>T - - SMARCA2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2486C>T r.(?) p.(Thr829Ile) Parent #1 - likely pathogenic g.2084156C>T g.2084156C>T - - SMARCA2_000150 1 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs797045974 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/? - c.2527-25G>A r.(=) p.(=) Unknown - VUS g.2086804G>A g.2086804G>A - - SMARCA2_000043 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/? - c.2527-25G>A r.(=) p.(=) Unknown - VUS g.2086804G>A g.2086804G>A - - SMARCA2_000043 - - - - Unknown - - - - - DNA SEQ - - CSS - - - F - - - - - - - 1 Gijs Santen
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