Unique variants in gene SMARCA2

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

123 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
?/. 5 - c.? - r.(?) p.(Glu852Asp), p.(Phe903Leu), p.(Gly881Arg), p.(Leu946Phe), p.(Ser1146Arg) g.? - p.(Glu852Asp), not specified, p.(Phe903Leu), not specified, p.(Gly881Arg), not specified, 2 more items - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
./. 1 - c.-1811337_*6006260del - r.0? p.0? g.204104_8198999del g.204104_8198999del - - GLDC_000111 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/? 3 - c.-5G>A - r.(=) p.(=) g.2029018G>A - - - SMARCA2_000054 - - - - Unknown - - - - - Gijs Santen
?/. 1 - c.47C>T VUS r.(?) p.(Ser16Leu) g.2029069C>T - SMARCA2(NM_003070.3):c.47C>T (p.(Ser16Leu)) - SMARCA2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.161C>T VUS r.(?) p.(Ser54Phe) g.2029183C>T - SMARCA2(NM_003070.3):c.161C>T (p.(Ser54Phe)) - SMARCA2_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.335C>A likely benign r.(?) p.(Pro112Gln) g.2033061C>A - SMARCA2(NM_003070.3):c.335C>A (p.(Pro112Gln)) - SMARCA2_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.370C>T VUS r.(?) p.(His124Tyr) g.2039480C>T - - - SMARCA2_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.511C>A VUS r.(?) p.(Pro171Thr) g.2039621C>A - SMARCA2(NM_003070.4):c.511C>A (p.P171T) - SMARCA2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.666A>G likely benign r.(?) p.(=) g.2039776A>G - SMARCA2(NM_003070.4):c.666_669delACAGinsGCAG (p.Q222_Q223=) - SMARCA2_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.668_669del VUS r.(?) p.(Gln223Profs*35) g.2039778_2039779del - SMARCA2(NM_003070.4):c.668_669delAG (p.Q223Pfs*35) - SMARCA2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 2 - c.683A>C - r.(?) p.(Gln228Pro) g.2039793A>C - - - SMARCA2_000040 - - - - Unknown - - - - - Gijs Santen
-/. 1 - c.685_686insCGC benign r.(?) p.(Gln228_Gln229insPro) g.2039795_2039796insCGC - SMARCA2(NM_003070.4):c.685_686insCGC (p.Q228_Q229insP) - SMARCA2_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.693_707del likely benign r.(?) p.(Gln234_Gln238del) g.2039803_2039817del - 1 more item - SMARCA2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Leiden
-?/. 2 - c.699_707del likely benign r.(?) p.(Gln236_Gln238del) g.2039809_2039817del - 1 more item - SMARCA2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Leiden
-?/., -/. 4 - c.699_707dup likely benign, benign r.(?) p.(Gln236_Gln238dup) g.2039809_2039817dup - 1 more item - SMARCA2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/., -/. 4 - c.702_707dup likely benign, benign r.(?) p.(Gln237_Gln238dup) g.2039812_2039817dup - 1 more item - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Leiden
-/., ?/., -?/. 5 - c.705_707del benign, VUS, likely benign r.(?) p.(Gln238del) g.2039815_2039817del - SMARCA2(NM_003070.3):c.667_669del (p.(Gln238del)), SMARCA2(NM_003070.4):c.705_707delGCA (p.Q238del) - SMARCA2_000065, SMARCA2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC, VKGL-NL_Groningen, VKGL-NL_Leiden, VKGL-NL_Utrecht
-/., -?/. 3 - c.705_707dup benign, likely benign r.(?) p.(Gln238dup) 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 - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam, VKGL-NL_Leiden
-?/. 1 - c.708A>G likely benign r.(?) p.(=) g.2039818A>G - SMARCA2(NM_003070.4):c.708A>G (p.Q236=) - SMARCA2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 1 - c.716_724dup - r.(?) p.(Pro239_Gln241dup) g.2039826_2039834dup - - - SMARCA2_000041 - - - - Unknown - - - - - Gijs Santen
?/. 1 - c.844G>A VUS r.(?) p.(Ala282Thr) g.2047282G>A - SMARCA2(NM_003070.3):c.844G>A (p.(Ala282Thr)) - SMARCA2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1018G>C VUS r.(?) p.(Val340Leu) g.2047456G>C - SMARCA2(NM_003070.4):c.1018G>C (p.V340L) - SMARCA2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1282A>G VUS r.(?) p.(Met428Val) g.2056780A>G - SMARCA2(NM_003070.4):c.1282A>G (p.M428V) - chr9_007022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
./. 1 - c.1514G>A - r.(?) p.(Arg505Gln) g.2058457G>A - - - SMARCA2_000058 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/? 1 - c.1522-48T>C - r.(=) p.(=) g.2060768T>C - - - SMARCA2_000035 - - - - Unknown - - - - - Gijs Santen
+/., ./. 2 - c.1573C>T pathogenic r.(?) p.(Arg525Cys) g.2060867C>T - - - SMARCA2_000057 VKGL data sharing initiative Nederland PubMed: DDDS 2015, Journal: DDDS 2015 - - CLASSIFICATION record, De novo - - - - - VKGL-NL, Johan den Dunnen
./. 1 - c.1574G>A - r.(?) p.(Arg525His) g.2060868G>A - - - SMARCA2_000056 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.1746+8A>G likely benign r.(=) p.(=) g.2070479A>G - SMARCA2(NM_003070.3):c.1746+8A>G (p.(=)) - SMARCA2_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1821C>T likely benign r.(?) p.(=) g.2073286C>T - SMARCA2(NM_003070.4):c.1821C>T (p.F607=) - chr9_007023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1827A>G benign r.(?) p.(=) g.2073292A>G - SMARCA2(NM_003070.4):c.1827A>G (p.P609=) - SMARCA2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2037-9C>T likely benign r.(=) p.(=) g.2077620C>T - SMARCA2(NM_003070.4):c.2037-9C>T - SMARCA2_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.2136G>A likely benign r.(?) p.(=) g.2077728G>A - SMARCA2(NM_003070.4):c.2136G>A (p.V712=) - chr9_007024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2226_2231delinsT - r.(?) p.(Leu743Argfs*6) g.2081873_2081878delinsT - - - SMARCA2_000095 - - - - Unknown - - - - - IMGAG
+/?, ?/. 3 15 c.2255G>C - r.(?) p.(Gly752Ala) g.2081902G>C - p.(Gly752Ala), not specified, p.(G752A), not specified - SMARCA2_000019 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/?, ?/. 2 15 c.2264A>G - r.(?) p.(Lys755Arg) g.2081911A>G - p.(Lys755Arg), not specified - SMARCA2_000024 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/?, ?/. 2 15 c.2267C>T - r.(?) p.(Thr756Ile) g.2081914C>T - p(.T756I), not specified - SMARCA2_000012 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
?/. 1 15 c.2348C>G - r.(?) p.(Ser783Trp) g.2081995C>G - p.(Ser783Trp), not specified - SMARCA2_000097 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
?/? 26 - c.2349-10del - r.(=) p.(=) g.2083337del - - - SMARCA2_000036 - - - - Unknown - - - - - Gijs Santen
-/. 1 - c.2349-10dup benign r.(=) p.(=) g.2083337dup - SMARCA2(NM_003070.4):c.2349-10dupT - SMARCA2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 1 - c.2349-9del - r.(=) p.(=) g.2083338del - - - SMARCA2_000042 - - - - Unknown - - - - - Gijs Santen
-?/. 1 - c.2349-6C>T likely benign r.(=) p.(=) g.2083341C>T - SMARCA2(NM_003070.3):c.2349-6C>T (p.(=)) - SMARCA2_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2431C>T likely pathogenic r.(?) p.(Arg811Cys) g.2084101C>T - - - SMARCA2_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/? 3 - c.2527-25G>A - r.(=) p.(=) g.2086804G>A - - - SMARCA2_000043 - - - - Unknown - - - - - Gijs Santen
?/., +/? 2 18 c.2551G>C - r.(?) p.(Asp851His) g.2086853G>C - p.(Asp851His), not specified - SMARCA2_000027 - PubMed: Sousa SB 2014, PubMed: Van Houdt et al 2012 - - Unknown - - - - - Julia Lopez, SIB - Livia Famiglietti
+/., ?/., +/? 4 18 c.2554G>A - r.(?) p.(Glu852Lys) g.2086856G>A - p.(Glu852Lys), not specified - SMARCA2_000020 - PubMed: Wieczorek 2013, PubMed: Sousa SB 2014, PubMed: Van Houdt et al 2012 - - De novo, Unknown - - - - - Johan den Dunnen, Julia Lopez, SIB - Livia Famiglietti
?/., ?/? 3 18 c.2554G>C - r.(?) p.(Glu852Gln) g.2086856G>C - p.(Glu852Gln), not specified - SMARCA2_000044 - PubMed: Santen GW 2013, PubMed: Sousa SB 2014 - - De novo, Unknown - - - - - Julia Lopez, Gijs Santen
+/? 1 18 c.2556A>C - r.(?) p.(Glu852Asp) g.2086858A>C - - - SMARCA2_000014 - PubMed: Van Houdt et al 2012 - - Unknown - - - - - SIB - Livia Famiglietti
?/., +/? 2 18 c.2561A>G - r.(?) p.(His854Arg) g.2086863A>G - p.(His854Arg), not specified - SMARCA2_000023 - PubMed: Sousa SB 2014, PubMed: Van Houdt et al 2012 - - Unknown - - - - - Julia Lopez, SIB - Livia Famiglietti
?/. 1 18 c.2561A>T - r.(?) p.(His854Leu) g.2086863A>T - p.(His854Leu), not specified - SMARCA2_000098 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
+/?, ?/. 2 18 c.2563C>G - r.(?) p.(Arg855Gly) g.2086865C>G - p.(Arg855Gly), not specified - SMARCA2_000028 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/., ?/. 3 18 c.2564G>A pathogenic r.(?) p.(Arg855Gln) g.2086866G>A - SMARCA2(NM_003070.3):c.2564G>A (p.(Arg855Gln)), p.(Arg855Gln), not specified - SMARCA2_000060 VKGL data sharing initiative Nederland PubMed: Wieczorek 2013, PubMed: Sousa SB 2014 - - De novo, CLASSIFICATION record, Unknown - - - - - Johan den Dunnen, VKGL-NL, Julia Lopez
+/., ?/. 2 18 c.2639C>T - r.(?) p.(Thr880Ile) g.2086941C>T - p.(Thr880Ile), not specified - SMARCA2_000059 - PubMed: Wieczorek 2013, PubMed: Sousa SB 2014 - - De novo, Unknown - - - - - Johan den Dunnen, Julia Lopez
+/? 1 18 c.2641G>C - r.(?) p.(Gly881Arg) g.2086943G>C - - - SMARCA2_000015 - PubMed: Van Houdt et al 2012 - - Unknown - - - - - SIB - Livia Famiglietti
+/?, ?/. 2 18 c.2642G>T - r.(?) p.(Gly881Val) g.2086944G>T - p.(Gly881Val), not specified - SMARCA2_000006 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/?, ?/. 4 18 c.2648C>T - r.(?) p.(Pro883Leu) g.2086950C>T - p.(Pro883Leu), not specified - SMARCA2_000009 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+?/. 1 - c.2671C>T likely pathogenic r.(?) p.(Leu891Phe) g.2086973C>T - SMARCA2(NM_003070.4):c.2671C>T (p.L891F) - SMARCA2_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.2733A>G benign r.(?) p.(=) g.2087035A>G - SMARCA2(NM_003070.4):c.2733A>G (p.Q911=) - SMARCA2_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.2744C>A VUS r.(?) p.(Ala915Asp) g.2087046C>A - SMARCA2(NM_003070.4):c.2744C>A (p.A915D) - SMARCA2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.2764G>A likely pathogenic r.(?) p.(Glu922Lys) g.2087066G>A - - - SMARCA2_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., +/?, ?/? 5 19 c.2815C>T - r.(?) p.(His939Tyr) g.2088545C>T - p.(His939tyr), not specified - SMARCA2_000011, SMARCA2_000045 - PubMed: Santen GW 2013, PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - De novo, Unknown - - - - - Julia Lopez, SIB - Livia Famiglietti, Gijs Santen
?/., +/? 2 19 c.2837T>C - r.(?) p.(Leu946Ser) g.2088567T>C - p.(Leu946Ser), not specified - SMARCA2_000021 - PubMed: Sousa SB 2014, PubMed: Van Houdt et al 2012 - - Unknown - - - - - Julia Lopez, SIB - Livia Famiglietti
+/? 1 19 c.2838A>T - r.(?) p.(Leu946Phe) g.2088568A>T - - - SMARCA2_000026 - PubMed: Van Houdt et al 2012 - - Unknown - - - - - SIB - Livia Famiglietti
?/? 1 - c.2883+20del - r.(=) p.(=) g.2088633del - - - SMARCA2_000046 - - - - Unknown - - - - - Gijs Santen
?/? 22 - c.2883+28del - r.(=) p.(=) g.2088641del - - - SMARCA2_000037 - - - - Unknown - - - - - Gijs Santen
?/? 4 - c.2883+37del - r.(=) p.(=) g.2088650del - - - SMARCA2_000029 - - - - Unknown - - - - - Gijs Santen
?/. 1 19i_4 c.(2883+1_2884-1)_(3762+1_3763-1)del - r.spl? p.? g.(2088614_2039487)_(2096656_2123718)del - 32kb in-frame deletion ex20-26, not specified - SMARCA2_000096 - PubMed: Sousa SB 2014 - - De novo - - - - - Julia Lopez
?/. 1 - c.(2883+1_2884-1)_(3981+1_3982-1)del - r.(?) p.? g.(2088614_2096656)_(2123938_2161685)del - 55kb in-frame deletion ex20-27, not specified - SMARCA2_000099 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
?/? 3 - c.2991+10G>A - r.(=) p.(=) g.2096774G>A - - - SMARCA2_000030 - - - - Unknown - - - - - Gijs Santen
?/? 4 - c.2991+30G>A - r.(=) p.(=) g.2096794G>A - - - SMARCA2_000031 - - - - Unknown - - - - - Gijs Santen
?/? 15 - c.3079-25T>A - r.(=) p.(=) g.2101545T>A - - - SMARCA2_000032 - - - - Unknown - - - - - Gijs Santen
?/? 1 - c.3079-23C>T - r.(=) p.(=) g.2101547C>T - - - SMARCA2_000038 - - - - Unknown - - - - - Gijs Santen
-?/. 1 - c.3192G>T likely benign r.(?) p.(=) g.2104069G>T - SMARCA2(NM_003070.4):c.3192G>T (p.A1064=) - SMARCA2_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.3203G>A likely pathogenic r.(?) p.(Arg1068Gln) g.2104080G>A - - - SMARCA2_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 23 c.3209T>A - r.(?) p.(Leu1070Gln) g.2104086T>A - p.(Leu1070Gln), not specified - SMARCA2_000100 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
?/. 1 23 c.3220C>G - r.(?) p.(Gln1074Glu) g.2104097C>G - p.(Gln1074Glu), not specified - SMARCA2_000101 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
?/., ?/? 3 24 c.3293G>A - r.(?) p.(Gly1098Asp) g.2110254G>A - p.(Gly1098Asp), not specified - SMARCA2_000039 - PubMed: Santen GW 2013, PubMed: Sousa SB 2014 - - De novo, Unknown - - - - - Julia Lopez, Gijs Santen
+/?, ?/. 2 24 c.3313C>T - r.(?) p.(Arg1105Cys) g.2110274C>T - p.(Arg1105Cys), not specified - SMARCA2_000013 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
?/., +/., ?/? 5 24 c.3314G>A pathogenic r.(?) p.(Arg1105His) g.2110275G>A - p.(Arg1105His), not specified - SMARCA2_000047 VKGL data sharing initiative Nederland PubMed: Santen GW 2013, PubMed: Sousa SB 2014 - - De novo, Unknown, CLASSIFICATION record - - - - - Julia Lopez, VKGL-NL, Gijs Santen
+/?, ?/. 2 24 c.3314G>C - r.(?) p.(Arg1105Pro) g.2110275G>C - p.(Arg1105Pro), not specified - SMARCA2_000018 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+?/. 1 - c.3314G>T likely pathogenic r.(?) p.(Arg1105Leu) g.2110275G>T - - - SMARCA2_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.3347G>C VUS r.(?) p.(Gly1116Ala) g.2110308G>C - SMARCA2(NM_003070.4):c.3347G>C (p.G1116A) - chr9_007027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 24 c.3377C>G - r.(?) p.(Thr1126Arg) g.2110338C>G - (p.Thr1126Arg), not specified - SMARCA2_000102 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
?/. 1 - c.3383C>A VUS r.(?) p.(Ala1128Asp) g.2110344C>A - - - SMARCA2_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 24 c.3385G>C - r.(?) p.(Gly1129Arg) g.2110346G>C - p.(Gly1129Arg), not specified - SMARCA2_000103 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
?/. 1 24 c.3392T>C - r.(?) p.(Leu1131Pro) g.2110353T>C - p.(Leu1131Pro), not specified - SMARCA2_000104 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
+?/. 1 - c.3394G>C likely pathogenic r.(?) p.(Gly1132Arg) g.2110355G>C - - - SMARCA2_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 24 c.3395G>A - r.(?) p.(Gly1132Asp) g.2110356G>A - p.(Gly1132Asp), not specified - SMARCA2_000105 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
+/?, ?/. 2 24 c.3404T>C - r.(?) p.(Leu1135Pro) g.2110365T>C - p.(Leu1135Pro), not specified - SMARCA2_000016 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/? 1 24 c.3436A>C - r.(?) p.(Ser1146Arg) g.2110397A>C - - - SMARCA2_000025 - PubMed: Van Houdt et al 2012 - - Unknown - - - - - SIB - Livia Famiglietti
+?/. 1 - c.3437G>C likely pathogenic r.(?) p.(Ser1146Thr) g.2110398G>C - SMARCA2(NM_003070.4):c.3437G>C (p.S1146T) - SMARCA2_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.3438C>T likely benign r.(?) p.(=) g.2110399C>T - SMARCA2(NM_003070.4):c.3438C>T (p.S1146=) - SMARCA2_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 25 c.3466G>C - r.(?) p.(Ala1156Pro) g.2115831G>C - p.(Ala1156Pro), not specified - SMARCA2_000106 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
+/?, ?/. 2 25 c.3473A>T - r.(?) p.(Asp1158Val) g.2115838A>T - p.(Asp1158Val), not specified - SMARCA2_000004 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/?, ?/. 4 25 c.3475C>G - r.(?) p.(Arg1159Gly) g.2115840C>G - p.(Arg1159Gly), not specified - SMARCA2_000005 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/?, ?/. 3 25 c.3476G>A - r.(?) p.(Arg1159Gln) g.2115841G>A - p.(Arg1159Gln), not specified - SMARCA2_000003 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
+/?, ?/. 2 25 c.3476G>T - r.(?) p.(Arg1159Leu) g.2115841G>T - p.(Arg1159Leu), not specified - SMARCA2_000008 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
?/. 1 25 c.3484C>A - r.(?) p.(Arg1162Ser) g.2115849C>A - p.(Arg1162Ser), not specified - SMARCA2_000107 - PubMed: Sousa SB 2014 - - Unknown - - - - - Julia Lopez
+/?, ?/. 3 25 c.3485G>A - r.(?) p.(Arg1162His) g.2115850G>A - p.(Arg1162His), not specified - SMARCA2_000007 - PubMed: Van Houdt et al 2012, PubMed: Sousa SB 2014 - - Unknown - - - - - SIB - Livia Famiglietti, Julia Lopez
-?/. 1 - c.3528C>T likely benign r.(?) p.(=) g.2115893C>T - SMARCA2(NM_003070.4):c.3528C>T (p.T1176=) - SMARCA2_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.3555C>T benign r.(?) p.(=) g.2115920C>T - SMARCA2(NM_003070.4):c.3555C>T (p.L1185=) - SMARCA2_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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