All variants in the IGFALS gene

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_004970.2 transcript reference sequence.

80 entries on 1 page. Showing entries 1 - 80.
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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.-19A>G r.(?) p.(=) - benign g.1843672T>C g.1793671T>C IGFALS(NM_004970.2):c.-19A>G - IGFALS_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.17-52C>T r.(=) p.(=) - likely benign g.1842454G>A g.1792453G>A IGFALS(NM_001146006.1):c.79C>T (p.(His27Tyr)) - NUBP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.17-3C>T r.spl? p.? - VUS g.1842405G>A g.1792404G>A IGFALS(NM_001146006.1):c.128C>T (p.(Ala43Val)) - IGFALS_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.33G>A r.(?) p.(=) - VUS g.1842386C>T g.1792385C>T - - IGFALS_000027 - - - rs9282732 Germline - 0-0.04 - - - Johan den Dunnen
+/. 2 c.103del r.(?) p.(Glu35Lysfs*87) - pathogenic (recessive) g.1842320del g.1792319del 1338delG - IGFALS_000001 - PubMed: Domene 2004, PubMed: Domene 2005, PubMed: Domene 2007, OMIM:var0001 - - Germline - - - - - HM Domene
+/. - c.103dup r.(?) p.(Glu35Glyfs*17) - pathogenic (recessive) g.1842320dup g.1792319dup 103_104insG - IGFALS_000040 - Gallego-Gomez Horm Res 72(Suppl 3):90 in PubMed: Fofanova-Gambetti 2010 - - Germline yes - - - - Johan den Dunnen
-?/. - c.154G>A r.(?) p.(Asp52Asn) - likely benign g.1842265C>T - IGFALS(NM_001146006.1):c.268G>A (p.(Asp90Asn)) - NUBP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.165G>A r.(?) p.(=) - VUS g.1842254C>T g.1792253C>T - - IGFALS_000026 - - - rs36098011 Germline - 0-0.02 - - - Johan den Dunnen
+/. 2 c.178T>A r.(?) p.(Cys60Ser) - pathogenic (recessive) g.1842241A>T g.1792240A>T - - IGFALS_000013 - PubMed: Fofanova-Gambetti 2009, Ref: Dr C. Pihoker (Seattle, WA) - - Germline - - - - - Vivian Hwa
?/. - c.197C>A r.(?) p.(Thr66Lys) - VUS g.1842222G>T g.1792221G>T IGFALS(NM_004970.2):c.197C>A (p.T66K) - IGFALS_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 2 c.210C>T r.(?) p.(=) - benign g.1842209G>A g.1792208G>A - - IGFALS_000014 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. PubMed: Banerjee 2008 - rs3751893 Germline - 0.16 - - - Johan den Dunnen
-/. - c.210T>C r.(?) p.(Asp70=) - benign g.1842209A>G g.1792208A>G IGFALS(NM_004970.2):c.210T>C (p.D70=) - IGFALS_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.218C>T r.(?) p.(Pro73Leu) - pathogenic (recessive) g.1842201G>A g.1792200G>A - - IGFALS_000006 - PubMed: David 2010 - - Germline - - - - - HM Domene
?/. 2 c.289C>T r.(?) p.(Leu97Phe) - VUS g.1842130G>A g.1792129G>A - - IGFALS_000025 - - - rs35947557 Germline - 0-0.07 - - - Johan den Dunnen
-?/. - c.289C>T r.(?) p.(Leu97Phe) - likely benign g.1842130G>A - IGFALS(NM_001146006.1):c.403C>T (p.(Leu135Phe)) - IGFALS_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 c.401T>A r.(?) p.(Leu134Gln) - pathogenic (recessive) g.1842018A>T g.1792017A>T - - IGFALS_000007 - PubMed: David 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.401T>A r.(?) p.(Leu134Gln) - VUS g.1842018A>T - IGFALS(NM_001146006.1):c.515T>A (p.(Leu172Gln)) - IGFALS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 2 c.434C>A r.(?) p.(Thr145Lys) - likely pathogenic g.1841985G>T g.1791984G>T - - IGFALS_000029 - PubMed: Schreiner 2013, Journal: Schreiner 2013 - - Germline - - - - - Jamie Zeegers
+/. - c.514C>T r.(?) p.(Leu172Phe) - pathogenic (recessive) g.1841905G>A g.1791904G>A - - IGFALS_000041 - Bang Horm Res 72(Suppl 3):86 in PubMed: Fofanova-Gambetti 2010 - - Germline - - - - - Johan den Dunnen
+/. - c.514C>T r.(?) p.(Leu172Phe) - pathogenic (recessive) g.1841905G>A g.1791904G>A - - IGFALS_000041 - Bang Horm Res 72(Suppl 3):86 in PubMed: Fofanova-Gambetti 2010 - - Germline - - - - - Johan den Dunnen
+/. 2 c.546_548delinsAG r.(?) p.(Ala183Glyfs*43) - pathogenic (recessive) g.1841871_1841873delinsCT g.1791870_1791872delinsCT 546-548delGGCinsAG - IGFALS_000039 - PubMed: David 2010 - - Germline - - - - - Johan den Dunnen
+/. 2 c.583_591dup r.(?) p.(Ser195_Arg197dup) - pathogenic g.1841830_1841838dup g.1791829_1791837dup - - IGFALS_000008 - PubMed: Domene 2007, OMIM:var0003 - - Germline - - - - - HM Domene
+/. 2 c.583_591dup r.(?) p.(Ser195_Arg197dup) - pathogenic g.1841830_1841838dup g.1791829_1791837dup - - IGFALS_000008 - PubMed: Domene 2007, OMIM:var0003 - - Germline - - - - - HM Domene
+/. 2 c.583_591dup r.(?) p.(Ser195_Arg197dup) - pathogenic g.1841830_1841838dup g.1791829_1791837dup - - IGFALS_000008 - PubMed: Domene 2007, OMIM:var0003 - - Germline - - - - - HM Domene
+/. - c.583_591dup r.(?) p.(Ser195_Arg197dup) - pathogenic (recessive) g.1841830_1841838dup g.1791829_1791837dup Ser195_Arg197dup - IGFALS_000008 - Bang Horm Res 72(Suppl 3):86 in PubMed: Fofanova-Gambetti 2010 - - Germline - - - - - Johan den Dunnen
?/. - c.689T>G r.(?) p.(Leu230Arg) - VUS g.1841730A>C - - - NUBP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 2 c.730C>T r.(?) p.(Leu244Phe) - pathogenic (recessive) g.1841689G>A g.1791688G>A - - IGFALS_000010 - PubMed: Fofanova-Gambetti 2009, Ref: Dr C. Pihoker (Seattle, WA) - - Germline - - - - - Vivian Hwa
?/. 2 c.801G>A r.(?) p.(=) - VUS g.1841618C>T g.1791617C>T - - IGFALS_000024 - - - rs35632685 Germline - 0-0.04 - - - Johan den Dunnen
+/. 2 c.827A>G r.(?) p.(Asn276Ser) - pathogenic (recessive) g.1841592T>C g.1791591T>C - - IGFALS_000011 - PubMed: Heath 2008 - - Germline - - - - - J Argente & J Pozo
+/. 2 c.827A>G r.(?) p.(Asn276Ser) - pathogenic (recessive) g.1841592T>C g.1791591T>C - - IGFALS_000011 - PubMed: Heath 2008 - - Germline - - - - - J Argente & J Pozo
+/. - c.827A>G r.(?) p.(Asn276Ser) - pathogenic (recessive) g.1841592T>C g.1791591T>C - - IGFALS_000011 - Gallego-Gomez Horm Res 72(Suppl 3):90 in PubMed: Fofanova-Gambetti 2010 - - Germline yes - - - - Johan den Dunnen
?/. - c.829C>T r.(?) p.(Arg277Cys) - VUS g.1841590G>A g.1791589G>A IGFALS(NM_001146006.1):c.943C>T (p.R315C) - NUBP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.860C>T r.(?) p.(Pro287Leu) - likely benign g.1841559G>A g.1791558G>A IGFALS(NM_001146006.1):c.974C>T (p.(Pro325Leu)), IGFALS(NM_004970.2):c.860C>T (p.P287L) - IGFALS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.860C>T r.(?) p.(Pro287Leu) - likely benign g.1841559G>A g.1791558G>A IGFALS(NM_001146006.1):c.974C>T (p.(Pro325Leu)), IGFALS(NM_004970.2):c.860C>T (p.P287L) - IGFALS_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.872dup r.(?) p.(Leu292ProfsTer40) - VUS g.1841549dup g.1791548dup IGFALS(NM_001146006.1):c.986dupG (p.L330Pfs*40) - NUBP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.874C>G r.(?) p.(Leu292Val) - VUS g.1841545G>C g.1791544G>C IGFALS(NM_001146006.1):c.988C>G (p.L330V) - NUBP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.886C>T r.(?) p.(Arg296Trp) - likely pathogenic g.1841533G>A g.1791532G>A IGFALS(NM_001146006.1):c.1000C>T (p.(Arg334Trp)) - NUBP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.887G>A r.(?) p.(Arg296Gln) - VUS g.1841532C>T g.1791531C>T IGFALS(NM_001146006.1):c.1001G>A (p.(Arg334Gln)) - NUBP2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.916C>T r.(?) p.(Arg306Trp) - likely benign g.1841503G>A - - - NUBP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 c.920C>T r.(?) p.(Pro307Leu) - VUS g.1841499G>A g.1791498G>A - - IGFALS_000023 - - - rs34297640 Germline - 0-0.01 - - - Johan den Dunnen
?/. - c.920C>T r.(?) p.(Pro307Leu) - VUS g.1841499G>A g.1791498G>A - - IGFALS_000023 32 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34297640 Germline - 32/2794 individuals - - - Mohammed Faruq
?/. - c.920C>T r.(?) p.(Pro307Leu) - VUS g.1841499G>A g.1791498G>A - - IGFALS_000023 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34297640 Germline - 1/2794 individuals - - - Mohammed Faruq
-?/. - c.931A>G r.(?) p.(Lys311Glu) - likely benign g.1841488T>C - IGFALS(NM_001146006.1):c.1045A>G (p.(Lys349Glu)) - NUBP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.939G>T r.(?) p.(=) - VUS g.1841480C>A g.1791479C>A - - IGFALS_000022 - - - rs35078715 Germline - 0-0.01 - - - Johan den Dunnen
?/. - c.952G>C r.(?) p.(Glu318Gln) - VUS g.1841467C>G - - - IGFALS_000042 - - - rs897198501 CLASSIFICATION record - - - - - MobiDetails
+/. 2 c.958C>T r.(?) p.(Gln320*) - pathogenic (recessive) g.1841461G>A g.1791460G>A - - IGFALS_000012 - PubMed: Heath 2008 - - Germline - - - - - J Argente & J Pozo
?/. - c.995G>A r.(?) p.(Arg332His) - VUS g.1841424C>T - IGFALS(NM_001146006.2):c.1109G>A (p.R370H) - NUBP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. - c.995G>C r.(?) p.(Arg332Pro) - VUS g.1841424C>G - IGFALS(NM_001146006.1):c.1109G>C (p.(Arg370Pro)) - NUBP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1120C>A r.(?) p.(Leu374Ile) - likely benign g.1841299G>T - IGFALS(NM_001146006.1):c.1234C>A (p.(Leu412Ile)) - NUBP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1123C>T r.(?) p.(Arg375Trp) - VUS g.1841296G>A - IGFALS(NM_001146006.1):c.1237C>T (p.(Arg413Trp)) - NUBP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1133C>T r.(?) p.(Pro378Leu) - VUS g.1841286G>A g.1791285G>A IGFALS(NM_004970.2):c.1133C>T (p.P378L) - IGFALS_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1198C>T r.(?) p.(Arg400Cys) - VUS g.1841221G>A - IGFALS(NM_001146006.1):c.1312C>T (p.(Arg438Cys)) - NUBP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.1215C>T r.(?) p.(=) - VUS g.1841204G>A g.1791203G>A - - IGFALS_000021 - - - rs34139827 Germline - 0-0.01 - - - Johan den Dunnen
+/. 2 c.1308_1316dup r.(?) p.(Leu437_Leu439dup) - pathogenic (recessive) g.1841109_1841117dup g.1791108_1791116dup 1308_1316dupGCTGGAGCT - IGFALS_000002 - PubMed: Fofanova-Gambetti 2009, Ref: Dr S. Kirsch (Toronto, Canada) - - Germline - - - - - Vivian Hwa
+/. 2 c.1318G>A r.(?) p.(Asp440Asn) - pathogenic (recessive) g.1841101C>T g.1791100C>T - - IGFALS_000003 - PubMed: Hwa 2006, Ref: Dr Gabriele Haeusler (Vienna, Austria) - - Germline - - - - - Vivian Hwa
-?/. - c.1357C>G r.(?) p.(Leu453Val) - likely benign g.1841062G>C - - - NUBP2_000003 - - - rs149707428 CLASSIFICATION record - - - - - MobiDetails
?/. 2 c.1386C>T r.(?) p.(=) - VUS g.1841033G>A g.1791032G>A - - IGFALS_000020 - - - rs17559 Germline - 0.09-0.49 - - - Johan den Dunnen
-/. - c.1386C>T r.(?) p.(Tyr462=) - benign g.1841033G>A g.1791032G>A IGFALS(NM_004970.2):c.1386C>T (p.Y462=) - IGFALS_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.1425G>A r.(?) p.(=) - VUS g.1840994C>T g.1790993C>T - - IGFALS_000019 - - - rs9282729 Germline - 0-0.02 - - - Johan den Dunnen
-?/. - c.1436G>A r.(?) p.(Gly479Asp) - likely benign g.1840983C>T - IGFALS(NM_001146006.1):c.1550G>A (p.(Gly517Asp)) - NUBP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.1459C>T r.(?) p.(=) - VUS g.1840960G>A g.1790959G>A - - IGFALS_000018 - - - rs35393265 Germline - 0-0.02 - - - Johan den Dunnen
+/. 2 c.1490dup r.(?) p.(Leu497Phefs*40) - pathogenic (recessive) g.1840930dup g.1790929dup - - IGFALS_000004 - PubMed: van Duyvenvoorde 2008, ESPE 2007 - - Germline - - - - - Hermine van Duyvenvoorde
+/. 2 c.1490dup r.(?) p.(Leu497Phefs*40) - pathogenic (recessive) g.1840930dup g.1790929dup - - IGFALS_000004 - PubMed: van Duyvenvoorde 2008, ESPE 2007 - - Germline - - - - - Hermine van Duyvenvoorde
+/. 2 c.1490dup r.(?) p.(Leu497Phefs*40) - pathogenic (recessive) g.1840930dup g.1790929dup - - IGFALS_000004 - PubMed: van Duyvenvoorde 2008, ESPE 2007 - - Germline - - - - - Hermine van Duyvenvoorde
?/. 2 c.1492C>T r.(?) p.(Pro498Ser) - VUS g.1840927G>A g.1790926G>A - - IGFALS_000017 - - - rs9282730 Germline - 0-0.02 - - - Johan den Dunnen
?/. - c.1516G>A r.(?) p.(Gly506Arg) - VUS g.1840903C>T - IGFALS(NM_001146006.1):c.1630G>A (p.(Gly544Arg)) - NUBP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1519C>T r.(?) p.(Arg507Trp) - VUS g.1840900G>A - IGFALS(NM_001146006.1):c.1633C>T (p.(Arg545Trp)) - NUBP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1526G>A r.(?) p.(Arg509His) - VUS g.1840893C>T g.1790892C>T IGFALS(NM_001146006.1):c.1640G>A (p.(Arg547His)) - IGFALS_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1555C>T r.(?) p.(Arg519Trp) - VUS g.1840864G>A g.1790863G>A IGFALS(NM_001146006.1):c.1669C>T (p.R557W) - IGFALS_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 c.1566G>A r.(?) p.(=) - VUS g.1840853C>T g.1790852C>T - - IGFALS_000016 - - - rs2230053 Germline - 0.04-0.08 - - - Johan den Dunnen
?/. - c.1568C>T r.(?) p.(Pro523Leu) - VUS g.1840851G>A - IGFALS(NM_001146006.1):c.1682C>T (p.P561L) - NUBP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 c.1618T>C r.(?) p.(Cys540Arg) - pathogenic g.1840801A>G g.1790800A>G - - IGFALS_000005 - PubMed: Domene 2007, OMIM:var0002 - - Germline - - - - - HM Domene
+/. 2 c.1618T>C r.(?) p.(Cys540Arg) - pathogenic g.1840801A>G g.1790800A>G - - IGFALS_000005 - PubMed: Domene 2007, OMIM:var0002 - - Germline - - - - - HM Domene
+/. 2 c.1618T>C r.(?) p.(Cys540Arg) - pathogenic g.1840801A>G g.1790800A>G - - IGFALS_000005 - PubMed: Domene 2007, OMIM:var0002 - - Germline - - - - - HM Domene
+?/. - c.1618T>C r.(?) p.(Cys540Arg) - likely pathogenic g.1840801A>G g.1790800A>G IGFALS(NM_001146006.1):c.1732T>C (p.(Cys578Arg)) - IGFALS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 c.1642C>T r.(?) p.(Arg548Trp) - VUS g.1840777G>A g.1790776G>A - - IGFALS_000015 - - - rs9282731 Germline - 0.02-0.17 - - - Johan den Dunnen
-/. - c.1642C>T r.(?) p.(Arg548Trp) - benign g.1840777G>A g.1790776G>A IGFALS(NM_001146006.1):c.1756C>T (p.(Arg586Trp)) - IGFALS_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1708G>A r.(?) p.(Asp570Asn) - likely benign g.1840711C>T - IGFALS(NM_001146006.1):c.1822G>A (p.(Asp608Asn)) - NUBP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.*2764G>A r.(=) p.(=) - VUS g.1837837C>T g.1787836C>T NUBP2(NM_012225.2):c.489+5C>T (p.?) - NUBP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.*2786C>T r.(=) p.(=) - likely benign g.1837815G>A g.1787814G>A NUBP2(NM_012225.2):c.472G>A (p.(Val158Met)) - NUBP2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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