Full data view for gene FOXF1

Information The variants shown are described using the NM_001451.2 transcript reference sequence.

78 entries on 1 page. Showing entries 1 - 78.
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AscendingDNA change (cDNA)     

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Protein     

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+/. _1 c.-286431G>A r.? p.? Paternal (confirmed) - VUS (!) g.86257745G>A g.86224139G>A - - FOXF1_000049 variant absent in 13 ACDMPV patients with heterozygous deletion entire FOXF1 enhancer; variant suggested to alter FOXF1 expression, protective variant (hypermorphic) Szafranski ASHG2018 P428 - rs150502618 Germline - - - - - DNA arrayCGH, SEQ - - ? ASHG2018-P428 Szafransky ASHG2018 P428 - F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/. _1_2_ c.0 r.0 p.0 Maternal (inferred) - pathogenic (dominant) g.(84000000_86200000)_(86550000_88000000)del - - - FOXF1_000050 ~2.5 Mb deletion maternal chromosome 16q23.3q24.1 including ~60 kb transcriptional enhancer region located ~272 kb 5' FOXF1 Szafransk ASHG2018 P428 - - De novo - - - - - DNA arrayCGH, SEQ - - ? ASHG2018-P428 Szafransky ASHG2018 P428 - F - Canada French-Canadian - - - - 1 Johan den Dunnen
+/? 1_2 c.0 r.0 p.0 Maternal (inferred) - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 1.5 Mb KIAA5013_FOXL1; de novo, maternal allele PubMed: Stankiewicz 2009 - - De novo - - - - - DNA arrayCGH - - ACDMPV - - - F - - - 1d - - - 1 LOVD
+/? 1_2 c.0 r.0 p.0 Parent #1 - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 2.0 Mb GINS2_JPH3 PubMed: Stankiewicz 2009 - - Unknown - - - - - DNA arrayCGH, FISH - - ? - - - M - - - ? - - - 1 LOVD
+/? 1_2 c.0 r.0 p.0 Maternal (inferred) - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 0.9 Mb C16orf74_FOXL1; de novo, maternal allele PubMed: Stankiewicz 2009 - - De novo - - - - - DNA arrayCGH, FISH - - ACDMPV - - - M - - - 40d - - - 1 LOVD
+/? 1_2 c.0 r.0 p.0 Maternal (inferred) - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 1.0 Mb COX411_FOXL1; de novo, maternal allele PubMed: Stankiewicz 2009 - - De novo - - - - - DNA arrayCGH, FISH - - ACDMPV - - - F - - - 15d - - - 1 LOVD
+/? 1_2 c.0 r.0 p.0 Parent #1 - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 3.5 Mb ATP2C2_JPH3; de novo in patient PubMed: Stankiewicz 2009 - - De novo - - - - - DNA arrayCGH, FISH - - ? - - - M - - - 18d - - - 1 LOVD
+/? 1_2 c.0 r.0 p.0 Parent #1 - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 103 Kb incl. MTHFSD; de novo in patient PubMed: Stankiewicz 2009 - - De novo - - - - - DNA arrayCGH - - ? - - - M - - - 5d - - - 1 LOVD
+/? 1_2 c.0 r.0 p.0 Maternal (inferred) - pathogenic g.? - - - FOXF1_000041 normal 2nd chromosome; deletion 1.8 Mb LOC732275_JPH3; de novo, maternal allele PubMed: Stankiewicz 2009 - - De novo - - - - - DNA arrayCGH - - ? - - - F - - - 25d - - - 1 LOVD
?/. - c.40G>C r.(?) p.(Gly14Arg) Unknown - VUS g.86544215G>C g.86510609G>C FOXF1(NM_001451.2):c.40G>C (p.(Gly14Arg)) - FOXF1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.45_59del r.(?) p.(Gly19_Gly23del) Unknown - VUS g.86544220_86544234del - FOXF1(NM_001451.2):c.45_59delCGGCGGCGGCGGCGG (p.(Gly16_Gly20del)) - FOXF1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.57_59del r.(?) p.(Gly23del) Unknown - benign g.86544232_86544234del g.86510626_86510628del FOXF1(NM_001451.3):c.57_59delCGG (p.G23del) - FOXF1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.62del r.(?) p.(Gly21GlufsTer49) Unknown - likely pathogenic g.86544237del - - - FOXF1_000069 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.89C>A r.(?) p.(Ser30*) Parent #1 - pathogenic g.86544264C>A g.86510658C>A - - FOXF1_000002 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - Hispanic - - - - 1 Avinash Dharmadhikari
+?/. ? c.105del r.(?) p.(Ala36Profs*34) Maternal (confirmed) - likely pathogenic g.86544281del g.86510675del 105delG - FOXF1_000047 - PubMed: Casanova 2017, Journal: Casanova 2017 - - De novo - - - - - DNA PCR - - ? Pat3 PubMed: Casanova 2017, Journal: Casanova 2017 - - - - - - - - - 1 David Monk
+?/? 1 c.145C>T r.(?) p.(Pro49Ser) Parent #1 - likely pathogenic g.86544320C>T g.86510714C>T - - FOXF1_000001 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
?/? 1 c.146C>A r.(?) p.(Pro49Gln) Unknown - VUS g.86544321C>A g.86510715C>A - - FOXF1_000043 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - - ? - Asian - - - - 1 Avinash Dharmadhikari
+?/? 1 c.155C>T r.(?) p.(Ser52Phe) Unknown - likely pathogenic g.86544330C>T g.86510724C>T - - FOXF1_000021 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.158A>G r.(?) p.(Tyr53Cys) Unknown - likely pathogenic g.86544333A>G g.86510727A>G - - FOXF1_000013 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+?/. - c.166C>G r.(?) p.(Leu56Val) Unknown - likely pathogenic g.86544341C>G g.86510735C>G FOXF1(NM_001451.3):c.166C>G (p.L56V) - FOXF1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.191C>A r.(?) p.(Ser64*) Unknown - pathogenic g.86544366C>A g.86510760C>A - - FOXF1_000005 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
-/. - c.204C>G r.(?) p.(Arg68=) Unknown - benign g.86544379C>G - FOXF1(NM_001451.3):c.204C>G (p.R68=) - FOXF1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.221T>A r.(?) p.(Ile74Asn) Unknown - likely pathogenic g.86544396T>A g.86510790T>A - - FOXF1_000017 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
+/? 1 c.225C>A r.(?) p.(Tyr75*) Unknown - pathogenic g.86544400C>A g.86510794C>A 150C>A (Y50X) - FOXF1_000035 normal 2nd chromosome; de novo, in patient PubMed: Stankiewicz 2009 - - De novo - - - - - DNA SEQ - - ACDMPV - - - M ? - - 10d - - - 1 Avinash Dharmadhikari
+/? 1 c.235C>T r.(?) p.(Gln79*) Unknown - pathogenic g.86544410C>T g.86510804C>T - - FOXF1_000007 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - Hispanic - - - - 1 Avinash Dharmadhikari
+/. - c.253T>A r.(?) p.(Phe85Ile) Unknown - pathogenic g.86544428T>A g.86510822T>A FOXF1(NM_001451.2):c.253T>A (p.F85I) - FOXF1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.253T>A r.(?) p.(Phe85Ile) Unknown - VUS g.86544428T>A g.86510822T>A - - FOXF1_000046 - - - - Germline - - - - - DNA PCR, SEQ - - ACDMPV - - - - ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.253T>C r.(?) p.(Phe85Leu) Unknown - likely pathogenic g.86544428T>C g.86510822T>C - - FOXF1_000030 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - ? ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.254T>C r.(?) p.(Phe85Ser) Unknown - likely pathogenic g.86544429T>C g.86510823T>C - - FOXF1_000026 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.256C>T r.(?) p.(Arg86Trp) Unknown - likely pathogenic g.86544431C>T g.86510825C>T - - FOXF1_000009 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+?/. - c.271G>T r.(?) p.(Gly91Cys) Unknown - likely pathogenic g.86544446G>T - - - FOXF1_000058 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.272G>T r.(?) p.(Gly91Val) Unknown - likely pathogenic g.86544447G>T g.86510841G>T - - FOXF1_000028 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - ? no - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.272_273delinsAA r.(?) p.(Gly91Glu) Unknown - likely pathogenic g.86544447_86544448delinsAA g.86510841_86510842delinsAA - - FOXF1_000022 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - ? ? - unknown - - - - 1 Avinash Dharmadhikari
+?/? 1 c.276G>A r.(?) p.(Trp92*) Unknown - likely pathogenic g.86544451G>A g.86510845G>A - - FOXF1_000019 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.286G>A r.(?) p.(Val96Met) Unknown - likely pathogenic g.86544461G>A g.86510855G>A - - FOXF1_000016 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.290G>A r.(?) p.(Arg97His) Unknown - likely pathogenic g.86544465G>A g.86510859G>A - - FOXF1_000025 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.294C>A r.(?) p.(His98Gln) Maternal (confirmed) - likely pathogenic g.86544469C>A g.86510863C>A - - FOXF1_000031 - - - - Germline - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - Asian/white - - - - 1 Avinash Dharmadhikari
+/. - c.301T>C r.(?) p.(Ser101Pro) Unknown - pathogenic g.86544476T>C - FOXF1(NM_001451.2):c.301T>C (p.S101P) - FOXF1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.302C>T r.(?) p.(Ser101Leu) Unknown - likely pathogenic g.86544477C>T g.86510871C>T - - FOXF1_000010 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+/? 1 c.310G>T r.(?) p.(Glu104*) Unknown - pathogenic g.86544485G>T g.86510879G>T - - FOXF1_000029 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - ? no - white - - - - 1 Avinash Dharmadhikari
?/? 1 c.316T>C r.(?) p.(Phe106Leu) Unknown - VUS g.86544491T>C g.86510885T>C - - FOXF1_000045 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - - ? - white - - - - 1 Avinash Dharmadhikari
+/? 1 c.338_358del r.(?) p.(Leu113_Gly119del) Unknown - pathogenic g.86544513_86544533del g.86510907_86510927del 338_358del21 - FOXF1_000011 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - African American - - - - 1 Avinash Dharmadhikari
-?/. - c.348C>T r.(?) p.(Pro116=) Unknown - likely benign g.86544523C>T - FOXF1(NM_001451.3):c.348C>T (p.P116=) - FOXF1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.356G>A r.(?) p.(Gly119Asp) Unknown - likely pathogenic g.86544531G>A g.86510925G>A - - FOXF1_000027 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
?/? 1 c.377C>T r.(?) p.(Pro126Leu) Unknown - VUS g.86544552C>T g.86510946C>T - - FOXF1_000044 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - - ? - African American - - - - 1 Avinash Dharmadhikari
+?/? 1 c.416G>T r.(?) p.(Arg139Leu) Maternal (confirmed) - likely pathogenic g.86544591G>T g.86510985G>T - - FOXF1_000032 - PubMed: Sen 2013 - - Germline - - - - - DNA PCR, SEQ - - ACDMPV - - - M no - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.416G>T r.(?) p.(Arg139Leu) Maternal (confirmed) - likely pathogenic g.86544591G>T g.86510985G>T - - FOXF1_000033 - PubMed: Sen 2013 - - Germline - - - - - DNA PCR, SEQ - - ACDMPV - - - F no - white - - - - 1 Avinash Dharmadhikari
+?/? 1 c.416G>T r.(?) p.(Arg139Leu) Maternal (confirmed) - likely pathogenic g.86544591G>T g.86510985G>T - - FOXF1_000034 - PubMed: Sen 2013 - - Germline - - - - - DNA PCR, SEQ - - ACDMPV - - - M no - white - - - - 1 Avinash Dharmadhikari
+/? 1 c.539C>A r.(?) p.(Ser180*) Unknown - pathogenic g.86544714C>A g.86511108C>A - - FOXF1_000024 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+?/. - c.658G>A r.(?) p.(Gly220Ser) Parent #1 - likely pathogenic g.86544833G>A g.86511227G>A - - FOXF1_000055 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs752504125 Germline - 1/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/? 1 c.691_698del r.(?) p.(Ala231Argfs*61) Unknown - pathogenic g.86544866_86544873del g.86511260_86511267del 691_698del8 - FOXF1_000006 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+/. - c.691_698del r.(?) p.(Ala231ArgfsTer61) Unknown - pathogenic g.86544866_86544873del - FOXF1(NM_001451.3):c.691_698delGCGGCGGC (p.A231Rfs*61) - FOXF1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.710dup r.(?) p.(His238Alafs*57) Unknown - pathogenic g.86544885dup g.86511279dup - - FOXF1_000018 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
+?/. - c.742C>G r.(?) p.(Leu248Val) Unknown - likely pathogenic g.86544917C>G - - - FOXF1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. ? c.810G>A r.(?) p.(Trp270*) Maternal (confirmed) - likely pathogenic g.86544985G>A g.86511379G>A - - FOXF1_000039 - PubMed: Casanova 2017, Journal: Casanova 2017 - - De novo - - - - - DNA PCR - - ? Pat1/Pat2 PubMed: Casanova 2017, Journal: Casanova 2017 two affected twins with similar phenotype and variant - - - - - - - - 1 David Monk
+/? 1 c.810G>A r.(?) p.(Trp270*) Unknown - pathogenic g.86544985G>A g.86511379G>A - - FOXF1_000039 - - - - Unknown - - - - - DNA SEQ - - ACDMPV - - - ? ? - unknown - - - - 1 Avinash Dharmadhikari
+/? 1 c.849_850del r.(?) p.(Ile285Glnfs*9) Unknown - pathogenic g.86545024_86545025del g.86511418_86511419del 849_850del2 - FOXF1_000023 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - Asian - - - - 1 Avinash Dharmadhikari
+/? 1 c.850dup r.(?) p.(Tyr284Leufs*11) Unknown - pathogenic g.86545025dup g.86511419dup 775dupT (Y259LfsX11) - FOXF1_000036 normal 2nd chromosome; de novo, in patient PubMed: Stankiewicz 2009 - - De novo - - - - - DNA SEQ - - ACDMPV - - - M ? - - 00y00m00d12h - - - 1 Avinash Dharmadhikari
+/? 1 c.862C>T r.(?) p.(Gln288*) Unknown - pathogenic g.86545037C>T g.86511431C>T - - FOXF1_000040 - - - - Unknown - - - - - DNA SEQ - - ACDMPV - - - ? ? - unknown - - - - 1 Avinash Dharmadhikari
+/? 1 c.872_879del r.(?) p.(Ser291*) Parent #1 - pathogenic g.86545047_86545054del g.86511441_86511448del 872_879del8 - FOXF1_000003 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
-?/. - c.873C>T r.(?) p.(Ser291=) Unknown - likely benign g.86545048C>T - FOXF1(NM_001451.3):c.873C>T (p.S291=) - FOXF1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.890C>T r.(?) p.(Ala297Val) Unknown - likely benign g.86545065C>T g.86511459C>T FOXF1(NM_001451.3):c.890C>T (p.A297V) - FOXF1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.899del r.(?) p.(Leu300Argfs*79) Unknown - pathogenic g.86545074del g.86511468del - - FOXF1_000015 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - white - - - - 1 Avinash Dharmadhikari
+/? 1 c.899_903dup r.(?) p.(Gly302Cysfs*79) Unknown - pathogenic g.86545074_86545078dup g.86511468_86511472dup 899_903dup5 - FOXF1_000004 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - Hispanic - - - - 1 Avinash Dharmadhikari
-?/. - c.908G>A r.(?) p.(Ser303Asn) Unknown - likely benign g.86545083G>A g.86511477G>A FOXF1(NM_001451.2):c.908G>A (p.(Ser303Asn)) - FOXF1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 1 c.936del r.(?) p.(Tyr313Ilefs*66) Unknown - pathogenic g.86545111del g.86511505del 936Gdel1 - FOXF1_000014 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
?/. - c.938A>G r.(?) p.(Tyr313Cys) Unknown - VUS g.86545113A>G - - - FOXF1_000062 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.967G>A r.(?) p.(Ala323Thr) Unknown - likely benign g.86545142G>A - FOXF1(NM_001451.2):c.967G>A (p.(Ala323Thr)) - FOXF1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1i c.979+302C>G r.(=) p.(=) Paternal (confirmed) - benign g.86545456C>G g.86511850C>G - - FOXF1_000042 normal 2nd chromosome; - - - Germline - - - - - DNA SEQ - - ACDMPV - - - M ? - - 47d - - - 1 Avinash Dharmadhikari
?/? 1i c.979+302C>G r.(=) p.(=) Unknown - VUS g.86545456C>G g.86511850C>G - - FOXF1_000042 - - - - Germline - - - - - DNA SEQ - - Healthy/Control - - - - ? - - - - - - 1 LOVD
+?/? 2 c.988C>T r.(?) p.(Arg330Trp) Unknown - likely pathogenic g.86546539C>T g.86512933C>T - - FOXF1_000008 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - M ? - Hispanic - - - - 1 Avinash Dharmadhikari
?/. - c.1006C>A r.(?) p.(Pro336Thr) Unknown - VUS g.86546557C>A - FOXF1(NM_001451.3):c.1006C>A (p.(Pro336Thr)) - FOXF1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1007C>A r.(?) p.(Pro336His) Unknown - VUS g.86546558C>A - FOXF1(NM_001451.2):c.1007C>A (p.(Pro336His)) - FOXF1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.1021_1022insA r.(?) p.(Arg341Glnfs*70) Unknown - pathogenic g.86546572_86546573insA g.86512966_86512967insA - - FOXF1_000020 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - ? ? - unknown - - - - 1 Avinash Dharmadhikari
+/? 2 c.1031_1032del r.(?) p.(Phe344Cysfs*66) Unknown - pathogenic g.86546582_86546583del g.86512976_86512977del 956_957delTT (F319CfsX66) - FOXF1_000037 normal 2nd chromosome; de novo, in patient PubMed: Stankiewicz 2009 - - De novo - - - - - DNA SEQ - - ACDMPV - - - F ? - - 1d - - - 1 Avinash Dharmadhikari
-?/. - c.1078G>A r.(?) p.(Gly360Ser) Unknown - likely benign g.86546629G>A - FOXF1(NM_001451.2):c.1078G>A (p.(Gly360Ser)) - FOXF1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.1138T>C r.(?) p.(*380Argext*73) Paternal (confirmed) - pathogenic g.86546689T>C g.86513083T>C 1063T>C (X355RextX74) - FOXF1_000038 normal 2nd chromosome; de novo, paternal allele PubMed: Stankiewicz 2009 - - De novo - - - - - DNA SEQ - - ACDMPV - - - M ? - - 47d - - - 1 Avinash Dharmadhikari
+/? 2 c.1139G>C r.(?) p.(*380Serext*73) Unknown - pathogenic g.86546690G>C g.86513084G>C - - FOXF1_000012 - - - - De novo - - - - - DNA PCR, SEQ - - ACDMPV - - - F ? - white - - - - 1 Avinash Dharmadhikari
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