Full data view for gene ASXL3

Information The variants shown are described using the NM_030632.1 transcript reference sequence.

162 entries on 2 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.10A>T r.(?) p.(Lys4*) Unknown - VUS g.31158605A>T - - - ASXL3_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.137+17A>G r.(=) p.(=) Unknown - likely benign g.31187657A>G g.33607693A>G ASXL3(NM_030632.3):c.137+17A>G - ASXL3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.187C>T r.(?) p.(Arg63Ter) Unknown - pathogenic g.31224907C>T g.33644943C>T - - ASXL3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.346G>T r.(?) p.(Glu116Ter) Unknown - likely pathogenic g.31226308G>T - - - ASXL3_000146 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356-8G>C r.(=) p.(=) Unknown - likely benign g.31241572G>C - ASXL3(NM_030632.1):c.356-8G>C (p.?) - ASXL3_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477+10C>T r.(=) p.(=) Unknown - likely benign g.31241711C>T - ASXL3(NM_030632.3):c.477+10C>T - ASXL3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477+10C>T r.(=) p.(=) Unknown - likely benign g.31241711C>T - ASXL3(NM_030632.3):c.477+10C>T - ASXL3_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.478-6T>C r.(=) p.(=) Unknown - likely benign g.31250631T>C - ASXL3(NM_030632.3):c.478-6T>C - ASXL3_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.478G>T r.(?) p.(Ala160Ser) Unknown - VUS g.31250637G>T - ASXL3(NM_030632.3):c.478G>T (p.(Ala160Ser)) - ASXL3_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.514T>C r.(?) p.(Ser172Pro) Unknown - VUS g.31250673T>C - ASXL3(NM_030632.2):c.514T>C (p.S172P) - ASXL3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.565G>A r.(?) p.(Val189Met) Unknown - VUS g.31250724G>A - ASXL3(NM_030632.1):c.565G>A (p.(Val189Met)) - ASXL3_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598T>C r.(?) p.(Ser200Pro) Unknown - VUS g.31251713T>C - ASXL3(NM_030632.1):c.598T>C (p.(Ser200Pro)) - ASXL3_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.622G>C r.(?) p.(Asp208His) Unknown - VUS g.31251737G>C - ASXL3(NM_030632.1):c.622G>C (p.(Asp208His)) - ASXL3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.629C>T r.(?) p.(Ser210Leu) Unknown - VUS g.31251744C>T - ASXL3(NM_030632.1):c.629C>T (p.(Ser210Leu)) - ASXL3_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.694C>T r.(?) p.(Arg232*) Unknown - pathogenic g.31251809C>T - ASXL3(NM_030632.2):c.694C>T (p.R232*) - ASXL3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.956G>A r.(956G>A) p.(Trp319*) Unknown ACMG likely pathogenic g.31312008G>A g.33732044G>A - - ASXL3_000139 - - ClinVar-3387771 - Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.1037C>T r.(?) p.(Thr346Ile) Unknown - VUS g.31314334C>T - ASXL3(NM_030632.3):c.1037C>T (p.(Thr346Ile)) - ASXL3_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1043C>T r.(?) p.(Pro348Leu) Unknown - VUS g.31314340C>T - ASXL3(NM_030632.3):c.1043C>T (p.(Pro348Leu)) - ASXL3_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1082+1784_3039+952del r.? p.? Unknown - pathogenic (dominant) g.31316163_31321359del g.33736199_33741395del - - ASXL3_000057 - PubMed: Lee 2019 ClinVar-000930572.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, fibroblast WES ? Pat27 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.1083-1G>A r.spl? p.? Unknown - pathogenic g.31318450G>A - - - ASXL3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1102G>T r.(?) p.(Glu368Ter) Unknown - likely pathogenic g.31318470G>T g.33738506G>T - - ASXL3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116C>T r.(?) p.(Leu372=) Unknown - likely benign g.31318484C>T - ASXL3(NM_030632.1):c.1116C>T (p.(Leu372=)), ASXL3(NM_030632.2):c.1116C>T (p.L372=) - ASXL3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1116C>T r.(?) p.(Leu372=) Unknown - likely benign g.31318484C>T - ASXL3(NM_030632.1):c.1116C>T (p.(Leu372=)), ASXL3(NM_030632.2):c.1116C>T (p.L372=) - ASXL3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1189C>T r.(?) p.(Gln397Ter) Unknown - likely pathogenic g.31318557C>T g.33738593C>T - - ASXL3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1245G>T r.(?) p.(Glu415Asp) Unknown - likely benign g.31318613G>T - ASXL3(NM_030632.1):c.1245G>T (p.(Glu415Asp)) - ASXL3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1448dup r.(?) p.(Thr484AsnfsTer5) Unknown - likely pathogenic g.31318816dup g.33738852dup 1448dupT - ASXL3_000153 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.1458del r.(?) p.(His487MetfsTer6) Unknown - pathogenic g.31318826del g.33738862del 1458delT - ASXL3_000154 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.1479_1480del r.(?) p.(Pro494SerfsTer2) Unknown - pathogenic g.31318847_31318848del g.33738883_33738884del ASXL3(NM_030632.3):c.1479_1480delAC (p.P494Sfs*2) - ASXL3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1500del r.(?) p.(Glu500AspfsTer5) Unknown - pathogenic g.31318868del g.33738904del 1500delA - ASXL3_000155 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.1559_1566del r.(?) p.(Glu520ValfsTer19) Unknown - pathogenic g.31318927_31318934del g.33738963_33738970del ASXL3(NM_030632.3):c.1559_1566delAAGGGAAG (p.E520Vfs*19) - ASXL3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1562G>C r.(?) p.(Gly521Ala) Unknown - likely benign g.31318930G>C - ASXL3(NM_030632.1):c.1562G>C (p.(Gly521Ala)) - ASXL3_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1582G>T r.(?) p.(Glu528Ter) Unknown - pathogenic g.31318950G>T g.33738986G>T - - ASXL3_000156 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1591A>G r.(?) p.(Thr531Ala) Unknown - likely benign g.31318959A>G - ASXL3(NM_030632.1):c.1591A>G (p.(Thr531Ala)) - ASXL3_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1603G>A r.(?) p.(Asp535Asn) Unknown - likely benign g.31318971G>A - ASXL3(NM_030632.1):c.1603G>A (p.(Asp535Asn)) - ASXL3_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1727C>T r.(?) p.(Ser576Leu) Unknown - likely benign g.31319095C>T - ASXL3(NM_030632.1):c.1727C>T (p.(Ser576Leu)) - ASXL3_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1733C>T r.(?) p.(Ser578Phe) Unknown - VUS g.31319101C>T g.33739137C>T ASXL3(NM_030632.2):c.1733C>T (p.S578F) - ASXL3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1768del r.(?) p.(Ile590*) Unknown - pathogenic g.31319136del - ASXL3(NM_030632.3):c.1768delA (p.I590*) - ASXL3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1897_1898del r.(?) p.(Gln633ValfsTer13) Unknown - pathogenic (dominant) g.31319265_31319266del g.33739301_33739302del ref?:c.1897_1898delCA - ASXL3_000145 - PubMed: Soden 2014 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMH079 PubMed: Soden 2014 family, 1 affected - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1918T>C r.(?) p.(Cys640Arg) Unknown - likely benign g.31319286T>C - ASXL3(NM_030632.1):c.1918T>C (p.(Cys640Arg)) - ASXL3_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1960T>C r.(?) p.(Ser654Pro) Unknown - VUS g.31319328T>C - ASXL3(NM_030632.1):c.1960T>C (p.(Ser654Pro)) - ASXL3_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1974_1984dup r.(?) p.(Tyr662LeufsTer19) Unknown - likely pathogenic g.31319342_31319352dup g.33739378_33739388dup - - ASXL3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1990C>T r.(?) p.(Gln664Ter) Unknown - likely pathogenic g.31319358C>T g.33739394C>T - - ASXL3_000072 - PubMed: Srivastava 2014 - - De novo - - - - - DNA SEQ-NG - WES ? Pat31 PubMed: Srivastava 2014 - - - United States - - - - - 1 Johan den Dunnen
+?/. - c.1990C>T r.(?) p.(Gln664Ter) Unknown - likely pathogenic g.31319358C>T g.33739394C>T - - ASXL3_000072 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
-/. - c.1995A>G r.(?) p.(Arg665=) Unknown - benign g.31319363A>G g.33739399A>G ASXL3(NM_030632.2):c.1995A>G (p.R665=) - ASXL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2041_2042insA r.(?) p.(Ser681TyrfsTer8) Unknown - pathogenic g.31319409_31319410insA g.33739445_33739446insA ASXL3(NM_030632.3):c.2041_2042insA (p.S681Yfs*8) - ASXL3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2153C>T r.(?) p.(Pro718Leu) Unknown - likely benign g.31319521C>T - ASXL3(NM_030632.1):c.2153C>T (p.(Pro718Leu)) - ASXL3_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2193G>A r.(?) p.(Val731=) Unknown - likely benign g.31319561G>A - ASXL3(NM_030632.2):c.2193G>A (p.V731=) - ASXL3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2307A>G r.(?) p.(=) Unknown - likely benign g.31319675A>G - ASXL3(NM_030632.3):c.2307A>G (p.(Arg769=)) - ASXL3_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2423C>G r.(?) p.(Pro808Arg) Unknown - VUS g.31319791C>G - ASXL3(NM_030632.1):c.2423C>G (p.(Pro808Arg)) - ASXL3_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2457T>C r.(?) p.(=) Unknown - benign g.31319825T>C - ASXL3(NM_030632.3):c.2457T>C (p.(Ala819=)) - ASXL3_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2511C>T r.(?) p.(=) Unknown - benign g.31319879C>T - ASXL3(NM_030632.3):c.2511C>T (p.(Thr837=)) - ASXL3_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2537A>G r.(?) p.(Lys846Arg) Unknown - likely benign g.31319905A>G - ASXL3(NM_030632.1):c.2537A>G (p.(Lys846Arg)) - ASXL3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2579T>A r.(?) p.(Met860Lys) Unknown - likely benign g.31319947T>A - ASXL3(NM_030632.1):c.2579T>A (p.(Met860Lys)) - ASXL3_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2586A>G r.(?) p.(Lys862=) Unknown - likely benign g.31319954A>G - ASXL3(NM_030632.2):c.2586A>G (p.K862=) - ASXL3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2587_2593del r.(?) p.(Val863Ilefs*70) Unknown - likely pathogenic g.31319955_31319961del - - - ASXL3_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2665G>A r.(?) p.(Gly889Arg) Unknown - VUS g.31320033G>A - ASXL3(NM_030632.3):c.2665G>A (p.(Gly889Arg)) - ASXL3_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2731G>A r.(?) p.(Val911Met) Unknown - likely benign g.31320099G>A - ASXL3(NM_030632.3):c.2731G>A (p.(Val911Met)) - ASXL3_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2801T>G r.(?) p.(Leu934*) Unknown - likely benign g.31320169T>G - - - ASXL3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2861A>G r.(?) p.(Asn954Ser) Unknown - benign g.31320229A>G g.33740265A>G ASXL3(NM_030632.3):c.2861A>G (p.N954S) - ASXL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2965C>G r.(?) p.(Arg989Gly) Unknown - likely benign g.31320333C>G - ASXL3(NM_030632.1):c.2965C>G (p.(Arg989Gly)), ASXL3(NM_030632.2):c.2965C>G (p.R989G) - ASXL3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2965C>G r.(?) p.(Arg989Gly) Unknown - likely benign g.31320333C>G - ASXL3(NM_030632.1):c.2965C>G (p.(Arg989Gly)), ASXL3(NM_030632.2):c.2965C>G (p.R989G) - ASXL3_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3003G>T r.(?) p.(Gln1001His) Unknown - VUS g.31320371G>T - - - ASXL3_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3004C>T r.(?) p.(Pro1002Ser) Unknown - VUS g.31320372C>T - ASXL3(NM_030632.3):c.3004C>T (p.(Pro1002Ser)) - ASXL3_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.3006del r.(?) p.(Arg1004Glufs*21) Unknown ACMG likely pathogenic g.31320374del g.33740410del - - ASXL3_000113 - {PMID:Wayhelova 2019:31180560 - - De novo - - - - - DNA SEQ-NG-I peripheral blood CES DD patient {PMID:Wayhelova 2019:31180560 2-generation family, 1 affected, unaffected non carrier parents F - Czech Republic white - - - - 1 Marketa Wayhelova
+/. - c.3039+1G>T r.spl p.? Unknown - pathogenic g.31320408G>T g.33740444G>T - - ASXL3_000157 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
+/. - c.3106C>T r.(?) p.(Arg1036Ter) Unknown - pathogenic g.31322918C>T g.33742954C>T ASXL3(NM_030632.2):c.3106C>T (p.R1036*), ASXL3(NM_030632.3):c.3106C>T (p.(Arg1036Ter)) - ASXL3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3106C>T r.(?) p.(Arg1036*) Unknown - likely pathogenic (dominant) g.31322918C>T - - - ASXL3_000028 - - - - De novo - - - - - DNA SEQ-NG - WES ID 217P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.3106C>T r.(?) p.(Arg1036Ter) Unknown - pathogenic g.31322918C>T - ASXL3(NM_030632.2):c.3106C>T (p.R1036*), ASXL3(NM_030632.3):c.3106C>T (p.(Arg1036Ter)) - ASXL3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3124T>C r.(?) p.(Ser1042Pro) Unknown - likely benign g.31322936T>C - ASXL3(NM_030632.1):c.3124T>C (p.(Ser1042Pro)) - ASXL3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3136G>A r.(?) p.(Gly1046Arg) Both (homozygous) - pathogenic g.31322948G>A g.33742984G>A NM_030632: c.G3136A; p.G1046R - ASXL3_000001 - PubMed: Karaca 2015 - - Germline - - - - - DNA SEQ-NG-I - WES ? 26539891-FamHOU2124PatBAB5481 PubMed: Karaca 2015 2-generation family, 1 affected, unaffected carrier parents M yes Turkey - - - - - 1 Johan den Dunnen
+?/. - c.3184C>T r.(?) p.(Gln1062*) Unknown - likely pathogenic g.31322996C>T - ASXL3(NM_030632.2):c.3184C>T (p.Q1062*) - ASXL3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3215C>T r.(?) p.(Ala1072Val) Unknown - VUS g.31323027C>T - ASXL3(NM_030632.3):c.3215C>T (p.A1072V) - ASXL3_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3284A>T r.(?) p.(Lys1095Met) Unknown - VUS g.31323096A>T - ASXL3(NM_030632.3):c.3284A>T (p.K1095M) - ASXL3_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3316A>T r.(?) p.(Thr1106Ser) Unknown - likely benign g.31323128A>T - ASXL3(NM_030632.1):c.3316A>T (p.(Thr1106Ser)) - ASXL3_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3324T>G r.(?) p.(Ala1108=) Unknown - likely benign g.31323136T>G - ASXL3(NM_030632.1):c.3324T>G (p.(Ala1108=)) - ASXL3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3325A>T r.(?) p.(Lys1109*) Paternal (confirmed) - VUS g.31323137A>T g.33743173A>T - - ASXL3_000100 - PubMed: Yuan 2019 - - Germline - - - - - DNA SEQ-NG - - ? Pat13 PubMed: Yuan 2019 - F - - - - - - - 1 Johan den Dunnen
+?/. - c.3349C>T r.(?) p.(Arg1117Ter) Unknown - likely pathogenic g.31323161C>T g.33743197C>T - - ASXL3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3349C>T r.(?) p.(Arg1117Ter) Unknown - pathogenic g.31323161C>T g.33743197C>T - - ASXL3_000014 variants reported seperately, unknown if mono-allelic or bi-allelic PubMed: Retterer 2016 - - Unknown - - - - - DNA SEQ, SEQ-NG - WES ? - PubMed: Retterer 2016 analysis proband (1/3040); possible combination of variants not reported - - United States - - - - - 1 Johan den Dunnen
?/. - c.3382C>T r.(?) p.(Arg1128Trp) Unknown - VUS g.31323194C>T g.33743230C>T ASXL3(NM_030632.3):c.3382C>T (p.R1128W) - ASXL3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3391C>T r.(?) p.(Pro1131Ser) Unknown - likely benign g.31323203C>T - ASXL3(NM_030632.2):c.3391C>T (p.P1131S), ASXL3(NM_030632.3):c.3391C>T (p.(Pro1131Ser)) - ASXL3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3391C>T r.(?) p.(Pro1131Ser) Unknown - likely benign g.31323203C>T - ASXL3(NM_030632.2):c.3391C>T (p.P1131S), ASXL3(NM_030632.3):c.3391C>T (p.(Pro1131Ser)) - ASXL3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3419C>A r.(?) p.(Pro1140Gln) Unknown - likely benign g.31323231C>A - ASXL3(NM_030632.3):c.3419C>A (p.(Pro1140Gln)) - ASXL3_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3444del r.(?) p.(Glu1149LysfsTer107) Unknown - VUS g.31323256del g.33743292del - - ASXL3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3464C>T r.(?) p.(Ser1155Leu) Unknown - likely benign g.31323276C>T - ASXL3(NM_030632.1):c.3464C>T (p.(Ser1155Leu)), ASXL3(NM_030632.3):c.3464C>T (p.S1155L) - ASXL3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3464C>T r.(?) p.(Ser1155Leu) Unknown - VUS g.31323276C>T - ASXL3(NM_030632.1):c.3464C>T (p.(Ser1155Leu)), ASXL3(NM_030632.3):c.3464C>T (p.S1155L) - ASXL3_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3465G>A r.(?) p.(=) Unknown - likely benign g.31323277G>A - ASXL3(NM_030632.3):c.3465G>A (p.(Ser1155=)) - ASXL3_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3601C>A r.(?) p.(His1201Asn) Unknown - VUS g.31323413C>A - ASXL3(NM_030632.3):c.3601C>A (p.H1201N) - ASXL3_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3697A>T r.(?) p.(Lys1233Ter) Unknown - pathogenic g.31323509A>T g.33743545A>T - - ASXL3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3721_3724dup r.(?) p.(Ser1242Metfs*10) Unknown - likely pathogenic g.31323533_31323536dup g.33743569_33743572dup - - ASXL3_000066 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-?/. - c.3737C>T r.(?) p.(Ser1246Leu) Unknown - likely benign g.31323549C>T g.33743585C>T ASXL3(NM_030632.1):c.3737C>T (p.(Ser1246Leu)) - ASXL3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3829del r.(?) p.(Cys1277ValfsTer3) Unknown - VUS g.31323641del g.33743677del ASXL3(NM_030632.1):c.3828del (p.(Cys1277ValfsTer3)) - ASXL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3876C>A r.(?) p.(Cys1292Ter) Unknown - likely pathogenic g.31323688C>A g.33743724C>A - - ASXL3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3929A>C r.(?) p.(Glu1310Ala) Unknown - likely benign g.31323741A>C - ASXL3(NM_030632.1):c.3929A>C (p.(Glu1310Ala)) - ASXL3_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3937A>C r.(?) p.(Ser1313Arg) Unknown - likely benign g.31323749A>C - ASXL3(NM_030632.1):c.3937A>C (p.(Ser1313Arg)) - ASXL3_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3946A>G r.(?) p.(Ser1316Gly) Unknown - VUS g.31323758A>G - ASXL3(NM_030632.1):c.3946A>G (p.(Ser1316Gly)) - ASXL3_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3976T>A r.(?) p.(Ser1326Thr) Unknown - likely benign g.31323788T>A g.33743824T>A ASXL3(NM_030632.2):c.3976T>A (p.S1326T) - ASXL3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4036A>G r.(?) p.(Ile1346Val) Unknown - likely benign g.31323848A>G g.33743884A>G ASXL3(NM_030632.1):c.4036A>G (p.(Ile1346Val)) - ASXL3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4073T>C r.(?) p.(Val1358Ala) Unknown - VUS g.31323885T>C - ASXL3(NM_030632.1):c.4073T>C (p.(Val1358Ala)), ASXL3(NM_030632.3):c.4073T>C (p.V1358A) - ASXL3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4073T>C r.(?) p.(Val1358Ala) Unknown - likely benign g.31323885T>C - ASXL3(NM_030632.1):c.4073T>C (p.(Val1358Ala)), ASXL3(NM_030632.3):c.4073T>C (p.V1358A) - ASXL3_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4119_4121dup r.(?) p.(Lys1373_Ile1374insMet) Unknown - VUS g.31323931_31323933dup - ASXL3(NM_030632.3):c.4119_4121dupGAT (p.K1373_I1374insM) - ASXL3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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