All variants in the HMGA2 gene

Information The variants shown are described using the NM_003483.4 transcript reference sequence.

39 entries on 1 page. Showing entries 1 - 39.
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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     
+/. _1_2i c.-1644_198+2797del r.0? p.0? - pathogenic g.66217407_66224664del g.65823627_65830884del - - HMGA2_000008 DNA breakpoints were determined by breakpoint PCR - - - De novo - - - - - Matias Wagner
?/. - c.(?_-1)_(*1_?)del r.0 p.0 - VUS g.(58100001_65360676)_(66709488_67700000)del - 12q14 microdeletion arr[hg19] 12q14(65,360,676-66,709,488)x1 HMGA2_000004 deletion affecting HMGA2 and LEMD3 PubMed: Spengler 2010, for EUCID-SRS consortium - - De novo - - - - normal methylation H19/IGF2:IG-DMR, KCNQ1OT1:TSS-DMR Zeynep Tümer
+/. _1_5_ c.-811_*2999{0} r.0 p.0 - pathogenic g.(?_64264960)_(67708363_?)del g.(?_63871180)_(67314583_?)del 64264960_67708363del - HMGA2_000033 - - - - De novo - - - - - Kaori Yamoto
?/. - c.6C>A r.(?) p.(Ser2Arg) - VUS g.66219056C>A - - - HMGA2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.7G>C r.(?) p.(Ala3Pro) - VUS g.66219057G>C - HMGA2(NM_003483.4):c.7G>C (p.(Ala3Pro)) - HMGA2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.49G>T r.(?) p.(Gly17*) - likely pathogenic g.66219099G>T - HMGA2(NM_003483.4):c.49G>T (p.(Gly17*)) - HMGA2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.55C>T r.(?) p.(Pro19Ser) - VUS g.66219105C>T - HMGA2(NM_003483.4):c.55C>T (p.(Pro19Ser)) - HMGA2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.94C>A r.(?) p.(Pro32Thr) - VUS g.66219144C>A - - - HMGA2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.105G>C r.(?) p.(Gln35His) - VUS g.66219155G>C - HMGA2(NM_003483.4):c.105G>C (p.(Gln35His)) - HMGA2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.112-14dup r.(=) p.(=) - likely benign g.66221767dup - HMGA2(NM_003483.4):c.112-14dup (p.(=)) - HMGA2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.112-14T>C r.(=) p.(=) - likely benign g.66221767T>C - HMGA2(NM_001300918.1):c.112-14T>C (p.(=)) - HMGA2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.112-2A>G r.spl? p.? - likely pathogenic g.66221779A>G - - - HMGA2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.138_141delinsCT r.(?) p.(Lys46Asnfs*16) ACMG pathogenic g.66221807_66221810delinsCT g.65828027_65828030delinsCT - - HMGA2_000032 - - - - De novo - - - - - Kaori Yamoto
+?/. - c.144del r.(?) p.(Arg49GlyfsTer117) - likely pathogenic g.66221813del g.65828033del HMGA2(NM_003483.4):c.144del (p.(Arg49GlyfsTer117)) - HMGA2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.180C>T r.(?) p.(Pro60=) - likely benign g.66221849C>T - HMGA2(NM_003483.4):c.180C>T (p.(=)) - HMGA2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 2 c.189del r.(?) p.(Ala64Leufs*102) - pathogenic g.66221858del g.65828078del - - HMGA2_000003 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer
+/. 2 c.193C>T r.(?) p.(Gln65*) - pathogenic g.66221862C>T g.65828082C>T - - HMGA2_000002 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer
-?/. - c.195A>G r.(?) p.(Gln65=) - likely benign g.66221864A>G - HMGA2(NM_003483.4):c.195A>G (p.(=)) - HMGA2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.199-15C>A r.(=) p.(=) - VUS g.66232284C>A - HMGA2(NM_003483.4):c.199-15C>A (p.(=)) - HMGA2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.199-8A>G r.(=) p.(=) - benign g.66232291A>G - HMGA2(NM_001300918.1):c.199-8A>G (p.(=)) - HMGA2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.223C>T r.(?) p.(Arg75Trp) - likely pathogenic g.66232323C>T g.65838543C>T - - HMGA2_000038 - PubMed: Plachy 2019 - - Germline/De novo (untested) - - - - - Johan den Dunnen
?/. - c.224G>A r.(?) p.(Arg75Gln) - VUS g.66232324G>A g.65838544G>A HMGA2(NM_003483.6):c.224G>A (p.(Arg75Gln)) - HMGA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.224G>A r.(?) p.(Arg75Gln) - VUS g.66232324G>A - HMGA2(NM_003483.6):c.224G>A (p.(Arg75Gln)) - HMGA2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.242G>T r.(?) p.(Arg81Met) - VUS g.66232342G>T - HMGA2(NM_003483.4):c.242G>T (p.(Arg81Met)) - HMGA2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.249+6T>A r.(=) p.(=) - benign g.66232355T>A g.65838575T>A HMGA2(NM_001300918.1):c.249+6T>A (p.(=)) - HMGA2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.249+19T>C r.(=) p.(=) - likely benign g.66232368T>C - HMGA2(NM_001300918.1):c.249+19T>C (p.(=)) - HMGA2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.249+46741T>C r.(?) p.(=) ACMG VUS g.66279090T>C g.65885310T>C - - HMGA2_000037 - - - - De novo - - - - - Larry Baum
+/. - c.250-51511T>G r.(=) p.(=) - pathogenic (recessive) g.66293652T>G g.66526181T>G BBS1 c.1169T>G, p.(Met390Arg) - BBS1_000001 compound heterozygous PubMed: Delvallee 2021 - - Germline yes - - - - LOVD
-/. - c.250-36519A>G r.(=) p.(=) - benign g.66308644A>G g.65914864A>G HMGA2(NM_003483.6):c.250-36519A>G - HMGA2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.250-36330C>A r.(=) p.(=) - likely benign g.66308833C>A - HMGA2(NM_003483.4):c.250-36330C>A (p.(=)) - HMGA2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-36277A>C r.(=) p.(=) - likely benign g.66308886A>C - HMGA2(NM_001300919.1):c.*192A>C (p.(=)) - HMGA2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.250-36267A>G r.(=) p.(=) - likely benign g.66308896A>G - HMGA2(NM_001300919.1):c.*202A>G (p.(=)) - HMGA2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.274C>G r.(?) p.(Pro92Ala) - likely benign g.66345187C>G - HMGA2(NM_001300918.1):c.274C>G (p.(Pro92Ala)) - HMGA2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.282+933T>C r.(=) p.(=) - likely benign g.66346128T>C - HMGA2(NM_001300918.1):c.283-8T>C (p.(=)) - HMGA2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 4i c.283-6_283del r.spl p.? - pathogenic g.66357019_66357025del g.65963239_65963245del NM_001300918.1:c.285-1_-7 - HMGA2_000001 - PubMed: De Crescenzo 2015, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer
+/. 4i c.283-6_283del r.spl p.? - pathogenic g.66357019_66357025del g.65963239_65963245del NM_001300918.1:c.285-1_-7 - HMGA2_000001 - PubMed: De Crescenzo 2015, for EUCID-SRS consortium - - Germline - - - - - Zeynep Tümer
+?/. - c.299dup r.(?) p.(Ser101Ilefs*116) - likely pathogenic g.66357041dup - HMGA2(NM_003483.4):c.299dup (p.(Ser101Ilefs*116)) - HMGA2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. - c.311_312del r.(?) p.(Glu104ValfsTer112) - likely pathogenic g.66357053_66357054del - - - HMGA2_000027 - - - - Unknown - - - - - MobiDetails
-?/. - c.315T>C r.(?) p.(=) - likely benign g.66357057T>C - HMGA2(NM_003483.4):c.315T>C (p.(Ser105=)) - HMGA2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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