All variants in the FOXP1 gene

Information The variants shown are described using the NM_032682.5 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. - c.-298+13307_-298+13308insAATA r.(=) p.(=) - likely benign g.71617395_71617396insTTAT - FOXP1(NM_001349338.3):c.-298+13307_-298+13308insAATA - FOXP1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-168+61120G>T r.(=) p.(=) - likely benign g.71481457C>A - FOXP1(NM_001349338.3):c.-168+61120G>T - FOXP1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-167-57307_-167-57304del r.(=) p.(=) - VUS g.71465741_71465744del - FOXP1(NM_001349338.3):c.-167-57307_-167-57304del - FOXP1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 3i_14i c.(-168+1_-167-1)_(1146+1_1147-1)del r.? p.? - pathogenic (dominant) g.(71027181_71037144)_(71408396_71542576)del g.(70978030_70987993)_(71359245_71493425)del del ex4-14 - FOXP1_000074 - PubMed: Hamdan 2010 - - De novo - - - - - Johan den Dunnen
-?/. - c.-73+17583C>T r.(=) p.(=) - likely benign g.71390718G>A - FOXP1(NM_001349338.3):c.-73+17583C>T - FOXP1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-11-34770T>G r.(=) p.(=) - likely benign g.71282313A>C - FOXP1(NM_001349338.3):c.-11-34770T>G - FOXP1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 11i_21_ c.870-127_*4533{1}inv r.? p.? ACMG pathogenic g.68954397_71064930inv g.68905246_71015779inv NM_001244813.1:c.570-127_*2054002inv - FOXP1_000096 ACMG PVS1, PS2, PM2; copy neutral inversion not detected by WES incl. FOXP1, KBTBD8, SUCLG2, FAM19A1, FAM19A4 PubMed: Riquin 2023 - - De novo - - - - - Johan den Dunnen
-?/. - c.44C>T r.(?) p.(Ala15Val) - likely benign g.71247489G>A - FOXP1(NM_032682.6):c.44C>T (p.A15V) - FOXP1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 6 c.155C>T r.(?) p.(Ala52Val) - VUS g.71247378G>A g.71198227G>A - - FOXP1_000008 - PubMed: Han 2018 - - De novo - - - - - Joonhong Park
?/. - c.180+168C>G r.(=) p.(=) - VUS g.71247185G>C g.71198034G>C - - FOXP1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. _6_13_ c.(?_180+17932)_(1063-4408_?)del r.(?) p.(Ala61_Gln354del) - pathogenic (dominant) g.(?_71041636)_(71229421_?)del - chr3 71,041,636–71,229,421del, del ex 6-13 - FOXP1_000075 - PubMed: Le Fevre 2013 - - De novo - - - - - Johan den Dunnen
-?/. - c.(?_180+37055)_(282+9554_?)dup r.? p.? - likely benign g.(?_71152133)_(71210298_?)dup - 3p13 (71,152,133-71,210,298)x3 - FOXP1_000067 58kb duplication reported to include 5′ UTR, exon1 and exon 2 which does not fit with genomic descriptions PubMed: Kaiwar 2017 - - Germline - - - - - Benjamin Billiet
./. - c.181-18045_181-17861del r.(=) p.(=) - likely pathogenic g.71179649_71179833del g.71130498_71130682del NM_001244815.1:c.2_186del - FOXP1_000040 encompassing exon 1 of the less common FOXP1 transcription variant NM_001244815.1 - - - De novo - - - - - Jeroen Breckpot
-?/. - c.181-18021G>C r.(=) p.(=) - likely benign g.71179809C>G g.71130658C>G FOXP1(NM_001244815.1):c.26G>C (p.(Ser9Thr)) - FOXP1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.181-18007C>G r.(=) p.(=) - VUS g.71179795G>C g.71130644G>C FOXP1(NM_001244815.1):c.40C>G (p.(His14Asp)), FOXP1(NM_001244815.2):c.-267C>G - FOXP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.181-18007C>G r.(=) p.(=) - likely benign g.71179795G>C - FOXP1(NM_001244815.1):c.40C>G (p.(His14Asp)), FOXP1(NM_001244815.2):c.-267C>G - FOXP1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.181-17970A>G r.(=) p.(=) - likely benign g.71179758T>C g.71130607T>C FOXP1(NM_001244815.1):c.77A>G (p.H26R) - FOXP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.181-17957C>T r.(=) p.(=) - likely benign g.71179745G>A g.71130594G>A FOXP1(NM_001244815.1):c.90C>T (p.P30=) - FOXP1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.181-17952C>G r.(=) p.(=) - likely benign g.71179740G>C - FOXP1(NM_001244815.1):c.95C>G (p.(Ser32Trp)) - FOXP1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.181-17899_181-17881del r.(=) p.(=) - likely benign g.71179670_71179688del - FOXP1(NM_001244815.1):c.148_166delACAGTACGGGCTCCCTTCG (p.(Thr50fs)) - FOXP1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.217C>G r.(?) p.(Gln73Glu) - likely benign g.71161752G>C - FOXP1(NM_001349338.3):c.217C>G (p.(Gln73Glu)) - FOXP1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
./. - c.283-1479_421-167del r.(?) p.(Val95_Gln140del) - pathogenic g.71101944_71104403del g.71052793_71055252del - - FOXP1_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. - c.301A>G r.(?) p.(Met101Val) - VUS g.71102906T>C - FOXP1(NM_032682.5):c.301A>G (p.(Met101Val)) - FOXP1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.316G>A r.(?) p.(Val106Ile) - likely benign g.71102891C>T g.71053740C>T FOXP1(NM_001244808.1):c.316G>A (p.(Val106Ile)) - FOXP1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.320T>C r.(?) p.(Ile107Thr) - VUS g.71102887A>G g.71053736A>G I107T - FOXP1_000059 variant also found in unaffected family members PubMed: Worthey 2013 - - Germline - - - - - Johan den Dunnen
?/. - c.433G>T r.(?) p.(Glu145*) - VUS g.71101765C>A - FOXP1(NM_001244813.1):c.133G>T (p.(Asp45Tyr)) - FOXP1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.447dup r.(?) p.(Gln150Thrfs*20) - likely pathogenic g.71101756dup - FOXP1(NM_001349338.3):c.447dupA (p.Q150Tfs*20) - FOXP1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.476_478del r.(?) p.(Leu159*) - pathogenic g.71101720_71101722del - FOXP1(NM_032682.6):c.476_478delTAC (p.L159*) - FOXP1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.480dup r.(?) p.(Gln161Thrfs*9) - pathogenic g.71101719dup - FOXP1(NM_001349338.3):c.480dupA (p.Q161Tfs*9) - FOXP1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 9 c.501delinsTGTTGTTTT r.(501delinsTGTTGTTTT) p.(Gln167Hisfs*42) ACMG pathogenic g.71101697delinsAAAACAACA g.71052546delinsAAAACAACA - - FOXP1_000112 - - ClinVar-3387770 - De novo - - - - - Marketa Wayhelova
?/. - c.534G>T r.(?) p.(Gln178His) - VUS g.71096223C>A - FOXP1(NM_032682.6):c.534G>T (p.Q178H) - FOXP1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.565C>T r.(?) p.(Gln189Ter) - pathogenic g.71096192G>A g.71047041G>A FOXP1(NM_001244808.2):c.565C>T (p.Q189*) - FOXP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.567G>T r.(?) p.(Gln189His) - VUS g.71096190C>A - FOXP1(NM_032682.5):c.567G>T (p.(Gln189His)) - FOXP1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.573dup r.(?) p.(Gln192Thrfs*103) - likely pathogenic (dominant) g.71096184dup g.71047033dup - - FOXP1_000084 - - - - De novo - - - - - Alejandro Brea-Fernández
+/. - c.574C>T r.(?) p.(Gln192Ter) - pathogenic g.71096183G>A - FOXP1(NM_001244808.3):c.574C>T (p.Q192*) - FOXP1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.596del r.(?) p.(Leu199CysfsTer7) - likely pathogenic g.71096163del g.71047012del - - FOXP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.730A>C r.(?) p.(Thr244Pro) - likely benign g.71090618T>G - FOXP1(NM_001244815.1):c.736A>C (p.(Thr246Pro)) - FOXP1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.767C>T r.(?) p.(Thr256Met) - VUS g.71090581G>A g.71041430G>A FOXP1(NM_001244808.1):c.767C>T (p.T256M) - FOXP1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.869G>A r.(?) p.(Ser290Asn) ACMG VUS g.71090479C>T - - - FOXP1_000068 ACMG: PM2_sup, PP3 class 3 / Last nucleotide in exon, splice-acceptor variant at +1 described as pathogenic - - - Germline ? - - - - Andreas Laner
+/. 11i c.869+2T>C r.spl p.? ACMG pathogenic (dominant) g.71090477A>G g.71041326A>G - - FOXP1_000123 ACMG: PVS1-very strong,PS1-supporting,PS2-supporting,PM2-supporting - - - De novo - - - - - Andreas Laner
?/. - c.904C>G r.(?) p.(Leu302Val) - VUS g.71064770G>C - FOXP1(NM_001244815.1):c.910C>G (p.(Leu304Val)) - FOXP1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.908A>G r.(?) p.(Tyr303Cys) - VUS g.71064766T>C - FOXP1(NM_032682.6):c.908A>G (p.Y303C) - FOXP1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.930G>A r.(?) p.(Trp310Ter) - pathogenic g.71064744C>T g.71015593C>T FOXP1(NM_001244808.1):c.930G>A (p.W310*) - FOXP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.936C>T r.(?) p.(Gly312=) - likely benign g.71064738G>A - FOXP1(NM_001349338.1):c.936C>T (p.G312=) - FOXP1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.975-2T>C r.spl p.? - likely pathogenic (dominant) g.71050212A>G g.71001061A>G - - FOXP1_000066 - PubMed: Grozeva 2015, Journal: Grozeva 2015 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.995C>T r.(?) p.(Ala332Val) - VUS g.71050190G>A - - - FOXP1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1017_1018insT r.(?) p.(Gln340Serfs*3) - pathogenic (dominant) g.71050167_71050168insA - - - FOXP1_000079 - PubMed: O'Roak 2011 - - De novo - - - - - Johan den Dunnen
+/. 9 c.1030C>T r.(?) p.(Gln344*) ACMG pathogenic (dominant) g.71050155G>A g.71001004G>A - - FOXP1_000092 - - - - De novo yes - - - - Pietro Palumbo
+/. - c.1031_1032insGTA r.(?) p.(Met345Ter) - pathogenic g.71050154_71050155insACT g.71001003_71001004insACT FOXP1(NM_001244808.3):c.1031_1032insGTA (p.M345*) - FOXP1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1062+3A>G r.spl? p.? - pathogenic g.71050120T>C g.71000969T>C - - FOXP1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1062+315C>T r.(=) p.(=) - likely benign g.71049808G>A - FOXP1(NM_001349338.3):c.1062+315C>T - FOXP1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1063-7T>G r.(=) p.(=) - likely benign g.71037235A>C g.70988084A>C FOXP1(NM_001244808.3):c.1063-7T>G - FOXP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1077_1080del r.(?) p.(Lys359Asnfs*6) - likely pathogenic g.71037213_71037216del - FOXP1(NM_001349338.3):c.1077_1080delAGAA (p.K359Nfs*6) - FOXP1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1081C>T r.(?) p.(Arg361Cys) - likely pathogenic g.71037210G>A - FOXP1(NM_001244808.3):c.1081C>T (p.R361C) - FOXP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1103A>C r.(?) p.(His368Pro) - likely pathogenic g.71037188T>G g.70988037T>G - - FOXP1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1117del r.(?) p.(Ser373LeufsTer11) - pathogenic g.71037174del g.70988023del FOXP1(NM_001244808.3):c.1117delT (p.S373Lfs*11) - FOXP1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1141C>T r.(?) p.(Gln381Ter) - pathogenic g.71037150G>A g.70987999G>A - - FOXP1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.1146+1G>A r.spl? p.? - pathogenic g.71037144C>T g.70987993C>T - - FOXP1_000004 splice variant PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. - c.1146+1G>A r.spl? p.? - pathogenic g.71037144C>T - FOXP1(NM_032682.6):c.1146+1G>A - FOXP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1146+5G>A r.spl? p.? - likely pathogenic g.71037140C>T g.70987989C>T - - FOXP1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1147-2A>C r.spl? p.? - likely pathogenic g.71027182T>G - FOXP1(NM_032682.6):c.1147-2A>C - FOXP1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1207_1210dup r.(?) p.(Pro404Leufs*58) ACMG likely pathogenic (dominant) g.71027118_71027121dup g.70977967_70977970dup - - FOXP1_000093 ACMG: PVS1, PM2_SUP - - - Germline ? - - - - Andreas Laner
?/. - c.1217C>G r.(?) p.(Thr406Ser) - VUS g.71027110G>C - - - FOXP1_000081 - PubMed: Jansen 2017 - - Germline - - - - - Johan den Dunnen
-?/. - c.1240C>G r.(?) p.(Leu414Val) - likely benign g.71027087G>C - FOXP1(NM_032682.5):c.1240C>G (p.(Leu414Val)) - FOXP1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1240dup r.(?) p.(Leu414ProfsTer47) - likely pathogenic g.71027092dup - FOXP1(NM_001244815.1):c.1246dupC (p.(Leu414Profs*47)) - FOXP1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1255del r.(?) p.(Gln419LysfsTer55) - pathogenic g.71027074del g.70977923del FOXP1(NM_001244808.3):c.1255delC (p.Q419Kfs*54) - FOXP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1262_1265dup r.(?) p.(Val423Leufs*39) - pathogenic g.71027063_71027066dup - FOXP1(NM_001349338.1):c.1262_1265dupCCTC (p.V423Lfs*39) - FOXP1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1267_1268del r.(?) p.(Val423Hisfs*37) - pathogenic (dominant) g.71027060_71027061del g.70977909_70977910del 1267_1268delGT - FOXP1_000080 - PubMed: Lozano 2015 - - De novo - - - - - Johan den Dunnen
?/. - c.1292C>T r.(?) p.(Thr431Met) - VUS g.71027035G>A - FOXP1(NM_001349338.2):c.1292C>T (p.T431M) - FOXP1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1297G>T r.(?) p.(Gly433Ter) - pathogenic g.71027030C>A g.70977879C>A FOXP1(NM_001244808.3):c.1297G>T (p.G433*) - FOXP1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1317C>A r.(?) p.(Tyr439*) - pathogenic g.71027010G>T g.70977859G>T - - FOXP1_000060 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727155 Germline - 1/2795 individuals - - - Mohammed Faruq
+/. - c.1317C>G r.(?) p.(Tyr439*) - pathogenic (dominant) g.71027010G>C - - - FOXP1_000078 - PubMed: Sollis 2016 - - De novo - - - - - Johan den Dunnen
+/. - c.1319C>G r.(?) p.(Ser440*) - pathogenic g.71027008G>C g.70977857G>C - - FOXP1_000007 - - - - Unknown - - - - - IMGAG
./. - c.1366C>T r.(?) p.(Gln456*) - pathogenic g.71026856G>A g.70977705G>A - - FOXP1_000003 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+/. - c.1366C>T r.(?) p.(Gln456Ter) - pathogenic g.71026856G>A g.70977705G>A FOXP1(NM_001244808.2):c.1363C>T (p.Q455*) - FOXP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1393A>G r.(?) p.(Arg465Gly) - pathogenic (dominant) g.71026829T>C - - - FOXP1_000077 - PubMed: Sollis 2016 - - De novo - - - - - Johan den Dunnen
+?/. - c.1396C>T r.(?) p.(Pro466Ser) - likely pathogenic g.71026826G>A - - - FOXP1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
./. - c.1397C>T r.(?) p.(Pro466Leu) - pathogenic g.71026825G>A g.70977674G>A - - FOXP1_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
?/. - c.1408T>A r.(?) p.(Tyr470Asn) - VUS g.71026814A>T g.70977663A>T - - FOXP1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1428+1G>A r.spl? p.? - pathogenic g.71026793C>T - FOXP1(NM_001349338.3):c.1428+1G>A - FOXP1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.1428+5G>C r.spl? p.? - VUS g.71026789C>G - FOXP1(NM_001244808.2):c.1425+5G>C - FOXP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.1450A>T r.(?) p.(Lys484Ter) - pathogenic g.71026172T>A g.70977021T>A FOXP1(NM_001244808.3):c.1447A>T (p.K483*) - FOXP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1472T>A r.(?) p.(Ile491Asn) - likely pathogenic g.71026150A>T g.70976999A>T FOXP1(NM_001244808.1):c.1469T>A (p.I490N) - FOXP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1489C>T r.(?) p.(Arg497Ter) - pathogenic g.71026133G>A - FOXP1(NM_001244808.3):c.1486C>T (p.R496*) - FOXP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1501T>G r.(?) p.(Tyr501Asp) - likely pathogenic g.71026121A>C g.70976970A>C FOXP1(NM_001244808.2):c.1498T>G (p.Y500D) - FOXP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.1507C>T r.(?) p.(Arg503Ter) - pathogenic g.71026115G>A g.70976964G>A - - FOXP1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1531-64_1531del r.spl? p.? - likely pathogenic g.71021828_71021892del - FOXP1(NM_001244815.1):c.1537-64_1537delCTGCTGTTTTTGGAGTCTTTTCTTATAGAAAATGTAAATGTTCTCTCTTTTATACTTGCTGCAGA (p.(Asn513fs)) - FOXP1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1535C>T r.(?) p.(Ala512Val) - VUS g.71021823G>A g.70972672G>A - - FOXP1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1540C>T r.(?) p.(Arg514Cys) - likely pathogenic g.71021818G>A g.70972667G>A FOXP1(NM_001244808.3):c.1537C>T (p.R513C) - FOXP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1540C>T r.(?) p.(Arg514Cys) - likely pathogenic g.71021818G>A g.70972667G>A FOXP1(NM_001244808.3):c.1537C>T (p.R513C) - FOXP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.1540C>T r.(?) p.(Arg514Cys) - pathogenic (dominant) g.71021818G>A - - - FOXP1_000018 - PubMed: Sollis 2016 - - De novo - - - - - Johan den Dunnen
?/. - c.1541G>A r.(?) p.(Arg514His) - VUS g.71021817C>T g.70972666C>T FOXP1(NM_032682.5):c.1541G>A (p.R514H, p.(Arg514His)) - FOXP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.1541G>A r.(?) p.(Arg514His) - likely pathogenic g.71021817C>T g.70972666C>T FOXP1(NM_032682.5):c.1541G>A (p.R514H, p.(Arg514His)) - FOXP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.1541G>A r.(?) p.(Arg514His) - likely pathogenic g.71021817C>T - FOXP1(NM_032682.5):c.1541G>A (p.R514H, p.(Arg514His)) - FOXP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 18 c.1541G>A r.(?) p.(Arg514His) ACMG pathogenic (dominant) g.71021817C>T - - - FOXP1_000017 ACMG: PS2, PS4_MOD, PM1, PM5, PS3_SUP, PM2_SUP PMID: 28741757 - - De novo ? - - - - Andreas Laner
+?/. - c.1541G>C r.(?) p.(Arg514Pro) - likely pathogenic g.71021817C>G - FOXP1(NM_001349338.1):c.1541G>C (p.R514P) - FOXP1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1545_1548dup r.(?) p.(Leu517Ter) - pathogenic g.71021810_71021813dup g.70972659_70972662dup FOXP1(NM_001244808.3):c.1542_1545dupTAAT (p.L516*) - FOXP1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.1553G>C r.(?) p.(Ser518Thr) - VUS g.71021805C>G - FOXP1(NM_001244815.1):c.1559G>C (p.(Ser518Thr)) - FOXP1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 18 c.1568T>C r.(?) p.(Phe523Ser) ACMG likely pathogenic g.71021790A>G g.70972639A>G - - FOXP1_000111 - - ClinVar-560721 rs1559602593 De novo - - - - - Marketa Wayhelova
+/. - c.1573C>T r.(?) p.(Arg525*) ACMG pathogenic g.71021785G>A g.70972634G>A - - FOXP1_000006 - PubMed: Trujillano 2017 - - De novo - - - - - Daniel Trujillano
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