Full data view for gene IGF2

A Growth Genetics Consortium gene variant database
Information The variants shown are described using the NM_000612.4 transcript reference sequence.

120 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     
+/. _1_4_ c.?_?ins-752_*3870 r.? p.? Maternal (confirmed) - pathogenic g.[NC_000004.11:pter_(3416499_6000000)]delinspter_(2914486_10700000) - - - CDKN1C_000110 unbalanced translocation, extra copy 11p15 for EUCID-SRS consortium - - DUPLICATE record - - - - - DNA microscope, FISH, arrayCNV - - SRS;RSS 18798325-Pat2 PubMed: South 2008, PubMed: Fokstuen 2013, for EUCID-SRS consortium - F - - - - - - - 1 Zeynep Tümer
+/. _1_4_ c.?_?ins-752_*3870 r.? p.? Maternal (confirmed) - pathogenic g.[NC_000004.11:(183200001_185163006)_(190963006_qter)]delins(pter_180000)_(4143424_10700000)inv - - - CDKN1C_000110 unbalanced translocation, extra copy of chr11 sequences translocated to chr4, ICR1 and ICR2 affected for EUCID-SRS consortium - - De novo - - - - - DNA microscope, FISH, MLPA, arrayCNV - - SRS;RSS 19735747-PatAII3 PubMed: Bliek 2009, PubMed: Begemann 2012, PubMed: Fokstuen 2013, PubMed: Brown 2014, for EUCID-SRS consortium - F - - - - - - - 1 Zeynep Tümer
?/. - c.-27823C>T r.(?) p.(=) Unknown - VUS g.2187275G>A - TH(NM_199292.3):c.1154C>T (p.A385V) - TH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27815G>A r.(?) p.(=) Unknown - likely benign g.2187267C>T g.2166037C>T TH(NM_000360.3):c.1069G>A (p.(Gly357Arg)) - IGF2_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27808C>T r.(?) p.(=) Unknown - VUS g.2187260G>A g.2166030G>A TH(NM_199292.2):c.1169C>T (p.S390L) - IGF2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27791A>C r.(?) p.(=) Unknown - VUS g.2187243T>G g.2166013T>G TH(NM_000360.3):c.1093A>C (p.(Lys365Gln)) - TH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27782A>T r.(?) p.(=) Unknown - VUS g.2187234T>A g.2166004T>A TH(NM_199292.2):c.1195A>T (p.T399S) - IGF2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-27781C>T r.(?) p.(=) Unknown - pathogenic g.2187233G>A - - - IGF2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27619A>G r.(?) p.(=) Unknown - benign g.2187071T>C g.2165841T>C - - IGF2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27553G>C r.(?) p.(=) Unknown - likely benign g.2187005C>G g.2165775C>G TH(NM_000360.3):c.1105-12G>C (p.(=)) - IGF2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27546C>G r.(?) p.(=) Unknown - likely benign g.2186998G>C g.2165768G>C TH(NM_199292.2):c.1198-5C>G - IGF2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27518C>T r.(?) p.(=) Unknown - likely benign g.2186970G>A g.2165740G>A TH(NM_199292.3):c.1221C>T (p.F407=) - TH_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-27505C>A r.(?) p.(=) Unknown - pathogenic g.2186957G>T - TH(NM_199292.2):c.1234C>A (p.Q412K) - TH_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-27499G>A r.(?) p.(=) Unknown - pathogenic g.2186951C>T - - - IGF2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27476C>G r.(?) p.(=) Unknown - VUS g.2186928G>C g.2165698G>C TH(NM_199292.2):c.1263C>G (p.A421=) - TH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27437C>T r.(?) p.(=) Unknown - likely benign g.2186889G>A g.2165659G>A TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T - TH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27437C>T r.(?) p.(=) Unknown - likely benign g.2186889G>A g.2165659G>A TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T - TH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27437C>T r.(?) p.(=) Unknown - likely benign g.2186889G>A g.2165659G>A TH(NM_000360.3):c.1200+9C>T (p.(=)), TH(NM_199292.2):c.1293+9C>T, TH(NM_199292.3):c.1293+9C>T - TH_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27153C>T r.(?) p.(=) Unknown - likely benign g.2186605G>A g.2165375G>A TH(NM_000360.3):c.1201-10C>T (p.(=)) - TH_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27111C>T r.(?) p.(=) Unknown - likely benign g.2186563G>A g.2165333G>A TH(NM_000360.3):c.1233C>T (p.(Ala411=)) - IGF2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27089G>A r.(?) p.(=) Unknown - likely benign g.2186541C>T g.2165311C>T TH(NM_000360.3):c.1255G>A (p.(Val419Met)), TH(NM_199292.3):c.1348G>A (p.V450M) - TH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27089G>A r.(?) p.(=) Unknown - likely benign g.2186541C>T g.2165311C>T TH(NM_000360.3):c.1255G>A (p.(Val419Met)), TH(NM_199292.3):c.1348G>A (p.V450M) - TH_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27066G>A r.(?) p.(=) Unknown - VUS g.2186518C>T g.2165288C>T TH(NM_000360.3):c.1278G>A (p.(=)) - TH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27048C>G r.(?) p.(=) Unknown - VUS g.2186500G>C g.2165270G>C - - IGF2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27047G>A r.(?) p.(=) Unknown - VUS g.2186499C>T g.2165269C>T TH(NM_199292.3):c.1390G>A (p.V464M) - IGF2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27043C>G r.(?) p.(=) Unknown - VUS g.2186495G>C g.2165265G>C TH(NM_199292.3):c.1394C>G (p.S465C) - TH_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27026G>T r.(?) p.(=) Unknown - VUS g.2186478C>A g.2165248C>A TH(NM_199292.2):c.1411G>T (p.A471S) - TH_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27007G>C r.(?) p.(=) Unknown - VUS g.2186459C>G g.2165229C>G TH(NM_000360.3):c.1334+3G>C (p.?), TH(NM_199292.2):c.1427+3G>C - IGF2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27007G>C r.(?) p.(=) Unknown - VUS g.2186459C>G g.2165229C>G TH(NM_000360.3):c.1334+3G>C (p.?), TH(NM_199292.2):c.1427+3G>C - IGF2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26137C>T r.(?) p.(=) Unknown - likely benign g.2185589G>A g.2164359G>A TH(NM_199292.2):c.1461C>T (p.S487=), TH(NM_199292.3):c.1461C>T (p.S487=) - TH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26137C>T r.(?) p.(=) Unknown - likely benign g.2185589G>A - TH(NM_199292.2):c.1461C>T (p.S487=), TH(NM_199292.3):c.1461C>T (p.S487=) - TH_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26136G>A r.(?) p.(=) Unknown - VUS g.2185588C>T - TH(NM_199292.3):c.1462G>A (p.V488M) - IGF2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-26123C>T r.(?) p.(=) Unknown - likely pathogenic g.2185575G>A g.2164345G>A - - IGF2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26122G>A r.(?) p.(=) Unknown - benign g.2185574C>T g.2164344C>T - - TH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26107C>T r.(?) p.(=) Unknown - likely benign g.2185559G>A g.2164329G>A TH(NM_199292.2):c.1491C>T (p.I497=) - IGF2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26103G>A r.(?) p.(=) Unknown - VUS g.2185555C>T g.2164325C>T TH(NM_199292.3):c.1495G>A (p.V499M) - IGF2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26082G>A r.(?) p.(=) Unknown - likely benign g.2185534C>T g.2164304C>T TH(NM_199292.3):c.1516G>A (p.V506M) - TH_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26075G>A r.(?) p.(=) Unknown - likely benign g.2185527C>T - TH(NM_199292.2):c.1523G>A (p.R508H) - IGF2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26063del r.(?) p.(=) Unknown - VUS g.2185517del g.2164287del TH(NM_199292.2):c.1535delG (p.G512Vfs*13) - IGF2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22744C>T r.(?) p.(=) Unknown - likely benign g.2182196G>A g.2160966G>A INS(NM_000207.2):c.6C>T (p.(Ala2=)) - IGF2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-22733G>A r.(?) p.(=) Unknown - likely pathogenic g.2182185C>T g.2160955C>T INS(NM_000207.2):c.17G>A (p.(Arg6His)) - IGF2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22714G>A r.(?) p.(=) Unknown - likely benign g.2182166C>T g.2160936C>T INS(NM_000207.2):c.36G>A (p.(Ala12=)) - INS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22687A>G r.(?) p.(=) Unknown - likely benign g.2182139T>C g.2160909T>C INS(NM_000207.2):c.63A>G (p.(Pro21=)) - INS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22683G>A r.(?) p.(=) Unknown - likely benign g.2182135C>T g.2160905C>T INS(NM_000207.2):c.67G>A (p.(Ala23Thr)) - IGF2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22655G>T r.(?) p.(=) Unknown - VUS g.2182107C>A g.2160877C>A INS(NM_000207.2):c.95G>T (p.(Gly32Val)) - INS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-22652C>G r.(?) p.(=) Unknown - pathogenic g.2182104G>C g.2160874G>C INS(NM_000207.2):c.98C>G (p.(Ser33*)) - IGF2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-22627del r.(?) p.(=) Unknown - likely pathogenic g.2182079del - INS(NM_000207.2):c.123del (p.(Val42Cysfs*89)) - IGF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-22624del r.(?) p.(=) Unknown - likely pathogenic g.2182076del - INS(NM_000207.2):c.126del (p.(Cys43Alafs*88)) - IGF2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22584C>T r.(?) p.(=) Unknown - VUS g.2182036G>A - INS(NM_000207.2):c.166C>T (p.(Arg56Trp)) - IGF2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22552T>C r.(?) p.(=) Unknown - benign g.2182004A>G g.2160774A>G INS(NM_001185098.2):c.187+11T>C, INS-IGF2(NM_001042376.3):c.187+11T>C - INS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21791C>A r.(?) p.(=) Unknown - VUS g.2181243G>T - INS(NM_000207.2):c.188-16C>A (p.(=)) - IGF2_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21791C>T r.(?) p.(=) Unknown - benign g.2181243G>A - INS(NM_000207.2):c.188-16C>T (p.(=)) - IGF2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21785G>A r.(?) p.(=) Unknown - likely benign g.2181237C>T - INS(NM_000207.2):c.188-10G>A (p.(=)) - IGF2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21753G>A r.(?) p.(=) Unknown - likely benign g.2181205C>T - INS(NM_000207.2):c.210G>A (p.(=)) - IGF2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-21727C>T r.(?) p.(=) Unknown - VUS g.2181179G>A - INS(NM_000207.2):c.236C>T (p.(Pro79Leu)) - IGF2_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-21717G>A r.(?) p.(=) Unknown - likely benign g.2181169C>T - INS(NM_000207.2):c.246G>A (p.(=)) - IGF2_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-21608A>C r.(?) p.(=) Unknown - benign g.2181060T>G g.2159830T>G INS(NM_001185098.2):c.*22A>C, INS-IGF2(NM_001042376.3):c.187+955A>C - INS_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11026T>C r.(?) p.(=) Unknown - likely benign g.2170478A>G g.2149248A>G INS-IGF2(NM_001042376.2):c.285T>C (p.(Ile95=)) - IGF2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11017C>T r.(?) p.(=) Unknown - likely benign g.2170469G>A g.2149239G>A INS-IGF2(NM_001042376.2):c.294C>T (p.(Ala98=)) - IGF2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11006C>T r.(?) p.(=) Unknown - likely benign g.2170458G>A g.2149228G>A INS-IGF2(NM_001042376.2):c.305C>T (p.(Ser102Leu)) - IGF2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10991G>A r.(?) p.(=) Unknown - likely benign g.2170443C>T g.2149213C>T INS-IGF2(NM_001042376.2):c.320G>A (p.(Arg107Gln)) - IGF2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10961C>T r.(?) p.(=) Unknown - VUS g.2170413G>A g.2149183G>A INS-IGF2(NM_001042376.2):c.350C>T (p.(Pro117Leu)) - IGF2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10949T>C r.(?) p.(=) Unknown - likely benign g.2170401A>G g.2149171A>G INS-IGF2(NM_001042376.2):c.362T>C (p.(Ile121Thr)) - INS-IGF2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9430G>A r.(?) p.(=) Unknown - VUS g.2168882C>T - INS-IGF2(NM_001042376.2):c.563G>A (p.(Cys188Tyr)) - IGF2_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-8695G>A r.(?) p.(=) Parent #1 - VUS g.2168147C>T g.2146917C>T - - IGF2_000002 - - - rs17883917 Germline - 0.00-0.05 - - - - - - - - - - - - - - - - - - - - -
?/. _1 c.-8690A>G r.(?) p.(=) Parent #1 - VUS g.2168142T>C g.2146912T>C - - IGF2_000001 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs10743144 Germline - 0.00-0.12 - - - - - - - - - - - - - - - - - - - - -
+?/. 00-1i c.-8060T>C r.(?) p.(=) Parent #1 - likely pathogenic g.2167512A>G g.2146282A>G - - IGF2_000005 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: association study - rs1004446 Germline - ? - - - DNA SEQ - - Healthy/Control - PubMed: association study - - - - - - - - - 1 Johan den Dunnen
+?/. 00-1i c.-7691T>C r.(?) p.(=) Parent #1 - likely pathogenic g.2167143A>G g.2145913A>G - - IGF2_000004 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: association study - rs3741208 Germline - ? - - - DNA SEQ - - Healthy/Control - PubMed: association study - - - - - - - - - 1 Johan den Dunnen
+?/. 00-1i c.-7027T>C r.(?) p.(=) Parent #1 - likely pathogenic g.2166479A>G g.2145249A>G Y13633:1156T/C - IGF2_000003 C-allele associated with body mass index (P=0.017, n=1567); incl. 352 homozygous cases Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Gaunt 2001, OMIM:var0002 - - Germline - 1516/3134 - - - DNA SSCA, SEQ - - Healthy/Control - PubMed: Gaunt 2001 - - - - - - - - - 1 Johan den Dunnen
?/. 00-1i c.-7027T>C r.(?) p.(=) Parent #1 - VUS g.2166479A>G g.2145249A>G - - IGF2_000003 Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. - - rs3741211 Germline - 0.25-0.53 - - - - - - - - - - - - - - - - - - - - -
-?/. 00-2 c.-6931T>C r.(?) p.(=) Parent #1 - likely benign g.2166383A>G g.2145153A>G Y13633:1252T/C - IGF2_000006 incl. 511 homozygous cases Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Gaunt 2001 - rs10770125 Germline - 2091/4418 AluI- - - DNA SEQ - - Healthy/Control - PubMed: Gaunt 2001 - - - - - - - - - 1 Johan den Dunnen
-?/. 00-2i c.-5460A>C r.(?) p.(=) Parent #1 - likely benign g.2164912T>G g.2143682T>G Y13633:2482A/C - IGF2_000008 incl. 473 homozygous cases Variant Error [EREF/ERANGE]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: Gaunt 2001 - rs1003483 Germline - 2073/4202 - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Gaunt 2001 - - - - - - - - - 1 Johan den Dunnen
-?/. 00-2i c.-5220C>T r.(?) p.(=) Parent #1 - likely benign g.2164672G>A g.2143442G>A Y13633:2722C/T - IGF2_000007 incl. 146 homozygous cases PubMed: Gaunt 2001 - rs17885652 Germline - 1142/4074 - - - DNA DHPLC, SEQ - - Healthy/Control - PubMed: Gaunt 2001 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.-2078G>A r.(?) p.(=) Unknown - likely benign g.2161530C>T g.2140300C>T IGF2(NM_001127598.1):c.-3-1G>A (p.(=)) - IGF2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2036C>G r.(?) p.(=) Unknown - likely benign g.2161488G>C - IGF2(NM_000612.4):c.-2036C>G (p.(=)) - IGF2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1978C>T r.(?) p.(=) Unknown - VUS g.2161430G>A g.2140200G>A IGF2(NM_000612.4):c.-1978C>T (p.(=)) - IGF2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1912G>T r.(?) p.(=) Unknown - VUS g.2161364C>A - IGF2(NM_000612.4):c.-1912G>T (p.(=)) - IGF2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i c.-6-1G>C r.-6_157del p.0? Paternal (confirmed) ACMG pathogenic (paternal) g.2156760C>G g.2135530C>G - - IGF2_000030 - PubMed: Masunaga 2020, Journal: Masunaga 2020 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG Blood cell - SRS;RSS Pat1 PubMed: Masunaga 2020, Journal: Masunaga 2020 - M no Japan - 06y - - - 1 Yohei Masunaga
+?/. 00 c.? r.(?) p.(=) Parent #1 - likely pathogenic g.? - L15440:6815A/T - IGF2_000000 T-allele associated with body mass index (P=0.00012, n=2394); incl. 111 homozygous cases PubMed: Gaunt 2001, OMIM:var0001 - - Germline - 1128/4788 - - - DNA SEQ - - Healthy/Control - PubMed: Gaunt 2001 - - - - - - - - - 1 Johan den Dunnen
-?/. 00 c.? r.(?) p.(=) Parent #1 - likely benign g.? - L15440:8173C/T - IGF2_000000 incl. 148 homozygous cases PubMed: Gaunt 2001 - - Germline - 985/2916 - - - DNA SEQ - - Healthy/Control - PubMed: Gaunt 2001 - - - - - - - - - 1 Johan den Dunnen
+/. _1_4_ c.ins(?_-1)_(*1_?) r.? p.? Maternal (confirmed) - pathogenic g.[NC_000009.11:pter_(15674745_16600000)]delins[pter_(2192146_2800000);NC_000004.11:(131100001_135285075)_(136913555_139500000)] - - arr[hg19] 11p15.5(205,983-2,192,146)x3 CDKN1C_000056 unbalanced translocation, extra copy 1.95 Mb 11p15.5 for EUCID-SRS consortium - - DUPLICATE record - - - - - DNA microscope, FISH, arrayCGH - - ?, SRS;RSS 23225375-Pat PubMed: Hu 2013, PubMed: Fokstuen 2013, for EUCID-SRS consortium mother has balanced complex translocation F - - - - - - - 1 Zeynep Tümer
?/. - c.21G>T r.(?) p.(Lys7Asn) Unknown - VUS g.2156733C>A - IGF2(NM_000612.4):c.21G>T (p.(Lys7Asn)) - IGF2_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.23C>A r.(?) p.(Ser8*) Paternal (inferred) - pathogenic g.2156731G>T g.2135501G>T NM_001127598.2:c.191G>A (Ser64Ter) - IGF2_000024 - PubMed: Begemann 2015, for EUCID-SRS consortium - - Germline yes - - - - DNA SEQ, SEQ-NG - WES SRS;RSS 26154720-FamPatIII3 PubMed: Begemann 2015, for EUCID-SRS consortium 4-generation family, 4 affecteds (2F, 2M), patient III3 M - Germany - - - - - 4 Zeynep Tümer
+/. 2 c.23C>A r.(?) p.(Ser8*) Paternal (inferred) - pathogenic g.2156731G>T g.2135501G>T - - IGF2_000024 - PubMed: Begemann 2015, for EUCID-SRS consortium - - Germline yes - - - - DNA SEQ - - SRS;RSS 26154720-FamPatIII4 PubMed: Begemann 2015, for EUCID-SRS consortium pat III4 F - Germany - - - - - 1 Zeynep Tümer
+/. 2 c.23C>A r.(?) p.(Ser8*) Paternal (inferred) - pathogenic g.2156731G>T g.2135501G>T - - IGF2_000024 - PubMed: Begemann 2015, for EUCID-SRS consortium - - Germline yes - - - - DNA SEQ - - SRS;RSS 26154720-FamPatIII7 PubMed: Begemann 2015, for EUCID-SRS consortium - F - Germany - - - - - 1 Zeynep Tümer
+/. 2 c.23C>A r.(?) p.(Ser8*) Paternal (confirmed) - pathogenic g.2156731G>T g.2135501G>T - - IGF2_000024 - PubMed: Begemann 2015, for EUCID-SRS consortium - - Germline yes - - - - DNA SEQ - - SRS;RSS 26154720-FamPatIIV1 PubMed: Begemann 2015, for EUCID-SRS consortium - F - Germany - - - - - 1 Zeynep Tümer
+/. 2 c.78C>G r.(?) p.(Tyr26*) Unknown - pathogenic g.2156676G>C g.2135446G>C - - IGF2_000022 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - De novo - - - - - DNA SEQ - WES SRS;RSS 24065356-Pat PubMed: Brioude 2013, for EUCID-SRS consortium - - - - - - - - - 1 Zeynep Tümer
+/. 2 c.97T>A r.(?) p.(Cys33Ser) Paternal (confirmed) - pathogenic (paternal) g.2156657A>T g.2135427A>T - - IGF2_000026 - PubMed: Masunaga 2020, Journal: Masunaga 2020 - - Germline - - - - - DNA SEQ-NG - WES SRS;RSS Pat4 PubMed: Masunaga 2020, Journal: Masunaga 2020 - F no Japan - - - - - 1 Kaori Yamoto
+?/. - c.100G>A r.(?) p.(Gly34Ser) Unknown - likely pathogenic g.2156654C>T g.2135424C>T IGF2(NM_000612.4):c.100G>A (p.(Gly34Ser)) - IGF2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106G>T r.(?) p.(Glu36Ter) Unknown - pathogenic g.2156648C>A - - - IGF2_000087 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.110_117delinsAGGTAA r.(?) p.(Leu37Glnfs*31) Paternal (confirmed) - likely pathogenic g.2156637_2156644delinsTTACCT g.2135407_2135414delinsTTACCT - - IGF2_000021 - PubMed: Yamoto 2017 - - De novo - - - - - DNA SEQ-NG - - SRS;RSS 28489339-Pat1 PubMed: Yamoto 2017 - M no Japan - - - - - 1 Kaori Yamoto
+/. 2 c.134G>C r.(?) p.(Cys45Ser) Unknown ACMG pathogenic g.2156620C>G g.2135390C>G - - IGF2_000029 variant identified in leukocytes, barely detected in other tissues examined PubMed: Masunaga 2020, Journal: Masunaga 2020 - - Somatic - - - - - DNA SEQ-NG Blood cell - SRS;RSS Pat5 PubMed: Masunaga 2020, Journal: Masunaga 2020 - M no Japan - 09y - - - 1 Yohei Masunaga
?/. - c.158-10G>A r.(?) p.(?) Unknown - VUS g.2154905C>T - - - IGF2_000085 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158-1G>C r.spl? p.? Unknown - VUS g.2154896C>G - IGF2(NM_000612.4):c.158-1G>C (p.?) - IGF2_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.158_159dup r.spl? p.(Arg54Alafs*7) Unknown - pathogenic g.2154894_2154895dup g.2133664_2133665dup - - IGF2_000023 - PubMed: Abi Habib 2017, for EUCID-SRS consortium - - De novo - - - - - DNA SEQ - - SRS;RSS 28796236-Pat PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - - - - 1 Zeynep Tümer
+?/. 2i c.163-1420A>G r.(?) p.(=) Parent #1 - likely pathogenic g.2156310T>C g.2135080T>C - - IGF2_000009 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: association study - rs3213216 Germline - ? - - - DNA SEQ - - Healthy/Control - PubMed: association study - - - - - - - - - 1 Johan den Dunnen
+?/. 2i c.163-285G>C r.(?) p.(=) Parent #1 - likely pathogenic g.2155175C>G g.2133945C>G - - IGF2_000010 Variant Error [EREF/EINVALIDBOUNDARY]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message. PubMed: association study - rs3213221 Germline - ? - - - DNA SEQ - - Healthy/Control - PubMed: association study - - - - - - - - - 1 Johan den Dunnen
+/. 3 c.209G>A r.(?) p.(Cys70Tyr) Paternal (confirmed) ACMG pathogenic (paternal) g.2154844C>T g.2133614C>T - - IGF2_000027 - PubMed: Masunaga 2020, Journal: Masunaga 2020 - - Germline - - - - - DNA SEQ-NG Blood cell - SRS;RSS Pat2 PubMed: Masunaga 2020, Journal: Masunaga 2020 - M no Japan - 07y - - - 1 Yohei Masunaga
+/. 3 c.211T>C r.(?) p.(Cys71Arg) Paternal (confirmed) ACMG likely pathogenic (paternal) g.2154842A>G g.2133612A>G - - IGF2_000028 - PubMed: Masunaga 2020, Journal: Masunaga 2020 - - Germline - - - - - DNA SEQ-NG Blood cell - SRS;RSS Pat3 PubMed: Masunaga 2020, Journal: Masunaga 2020 - M no Japan - 15y - - - 1 Yohei Masunaga
+/. - c.211T>C r.(?) p.(Cys71Arg) Unknown - pathogenic g.2154842A>G - - - IGF2_000028 - - - rs1564894932 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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