Full data view for gene INS

Information The variants shown are described using the NM_000207.2 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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     
+/. - c.-59_(186+1_187-1){0} - r.0 p.0 Both (homozygous) - pathogenic (recessive) g.(2181228_2182014)_(2182571_?)del g.(2159998_2160784)_(2161341_?)del -370-?_186+?del - INS_000031 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD182 PubMed: Garin 2010 - - yes - - - - - - 2 Johan den Dunnen
+/. - c.-59_-164{0} - r.(?) p.? Both (homozygous) - pathogenic (recessive) g.2182544_2182567del g.2161314_2161337del -366_-343del - INS_000050 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes DM1293 PubMed: Garin 2010 - - - - - - - - - 2 Johan den Dunnen
?/. - c.-4895C>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.-4890C>A - r.(?) p.(=) Unknown - likely pathogenic g.2187270G>T - - - TH_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4887G>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.-4880C>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.-4863A>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.-4854A>T - r.(?) p.(=) Unknown - VUS g.2187234T>A g.2166004T>A TH(NM_000360.3):c.1102A>T (p.(Thr368Ser)), TH(NM_199292.2):c.1195A>T (p.T399S) - IGF2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4854A>T - r.(?) p.(=) Unknown - VUS g.2187234T>A g.2166004T>A TH(NM_000360.3):c.1102A>T (p.(Thr368Ser)), TH(NM_199292.2):c.1195A>T (p.T399S) - IGF2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4853C>T - r.(?) p.(=) Unknown - pathogenic g.2187233G>A - TH(NM_000360.4):c.1103C>T (p.(Thr368Met)) - IGF2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-4853C>T - r.(?) p.(=) Unknown - pathogenic g.2187233G>A - TH(NM_000360.4):c.1103C>T (p.(Thr368Met)) - IGF2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4691A>G - r.(?) p.(=) Unknown - benign g.2187071T>C g.2165841T>C - - IGF2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4625G>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.-4621C>T - r.(?) p.(=) Unknown - VUS g.2187001G>A - INS(NM_000207.2):c.-4621C>T (p.(=)) - IGF2_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4618C>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.-4618C>T - r.(?) p.(=) Unknown - likely benign g.2186998G>A - INS(NM_000207.2):c.-4618C>T (p.(=)) - IGF2_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4590C>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.-4577C>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.-4571G>A - r.(?) p.(=) Unknown - pathogenic g.2186951C>T - - - IGF2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4548C>G - r.(?) p.(=) Unknown - VUS g.2186928G>C g.2165698G>C TH(NM_000360.3):c.1170C>G (p.(=)), TH(NM_199292.2):c.1263C>G (p.A421=) - TH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4548C>G - r.(?) p.(=) Unknown - likely benign g.2186928G>C - TH(NM_000360.3):c.1170C>G (p.(=)), TH(NM_199292.2):c.1263C>G (p.A421=) - TH_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4548C>T - r.(?) p.(=) Unknown - likely benign g.2186928G>A - INS(NM_000207.2):c.-4548C>T (p.(=)) - IGF2_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4509C>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.-4509C>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.-4509C>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.-4225C>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.-4183C>T - r.(?) p.(=) Unknown - likely benign g.2186563G>A g.2165333G>A TH(NM_000360.3):c.1233C>T (p.(=)) - IGF2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4161G>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.-4161G>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.-4138G>A - r.(?) p.(=) Unknown - likely benign g.2186518C>T g.2165288C>T TH(NM_000360.3):c.1278G>A (p.(Thr426=)) - TH_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4120C>G - r.(?) p.(=) Unknown - VUS g.2186500G>C g.2165270G>C - - IGF2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4119G>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.-4115C>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.-4108C>T - r.(?) p.(=) Unknown - likely benign g.2186488G>A - INS(NM_000207.2):c.-4108C>T (p.(=)) - IGF2_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4098G>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.-4079G>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.-4079G>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.-3253C>G - r.(?) p.(=) Unknown - likely benign g.2185633G>C - INS(NM_000207.2):c.-3253C>G (p.(=)) - IGF2_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3229C>T - r.(?) p.(=) Unknown - VUS g.2185609G>A - TH(NM_000360.4):c.1348C>T (p.(Arg450Cys)) - IGF2_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3228G>A - r.(?) p.(=) Unknown - VUS g.2185608C>T - TH(NM_000360.3):c.1349G>A (p.(Arg450His)) - IGF2_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3209C>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.-3209C>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.-3208G>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.-3200C>T - r.(?) p.(=) Unknown - VUS g.2185580G>A - TH(NM_000360.3):c.1377C>T (p.(Phe459=)) - IGF2_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-3195C>T - r.(?) p.(=) Unknown - likely pathogenic g.2185575G>A g.2164345G>A - - IGF2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3194G>A - r.(?) p.(=) Unknown - benign g.2185574C>T g.2164344C>T TH(NM_000360.3):c.1383G>A (p.(=)) - TH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3194G>A - r.(?) p.(=) Unknown - likely benign g.2185574C>T - TH(NM_000360.3):c.1383G>A (p.(=)) - TH_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3188G>T - r.(?) p.(=) Unknown - VUS g.2185568C>A - TH(NM_000360.3):c.1389G>T (p.(Thr463=)) - IGF2_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3179C>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.-3176C>T - r.(?) p.(=) Unknown - benign g.2185556G>A - TH(NM_000360.3):c.1401C>T (p.(Asp467=)) - IGF2_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3175G>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.-3154G>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.-3147G>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.-3135del - 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.-153C>G - r.? p.? Paternal (confirmed) - pathogenic (recessive) g.2182533G>C g.2161303G>C -332C>G - INS_000049 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes DM1265 PubMed: Garin 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-152C>A - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>T g.2161302G>T -331C>A - INS_000047 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD188 PubMed: Garin 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-152C>A - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>T g.2161302G>T -331C>A - INS_000047 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD187 PubMed: Garin 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-152C>G - r.? p.? Maternal (confirmed) - pathogenic (recessive) g.2182532G>C g.2161302G>C -331C>G - INS_000048 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes DM1265 PubMed: Garin 2010 - M - - - - - - - 1 Johan den Dunnen
+/. - c.-152C>G - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>C g.2161302G>C -331C>G - INS_000048 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD185 PubMed: Garin 2010 - - yes - - - - - - 2 Johan den Dunnen
+/. - c.-152C>G - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>C g.2161302G>C -331C>G - INS_000048 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD186 PubMed: Garin 2010 - - yes - - - - - - 2 Johan den Dunnen
+/. - c.-152C>G - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>C g.2161302G>C -331C>G - INS_000048 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD183 PubMed: Garin 2010 - M yes - - - - - - 1 Johan den Dunnen
+/. - c.-152C>G - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>C g.2161302G>C -331C>G - INS_000048 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD184 PubMed: Garin 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.-152C>G - r.? p.? Both (homozygous) - pathogenic (recessive) g.2182532G>C g.2161302G>C -331C>G - INS_000048 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD83 PubMed: Garin 2010 - F - - - - - - - 1 Johan den Dunnen
+/. - c.-39A>C - r.(?) p(=) Both (homozygous) - pathogenic (recessive) g.2182419T>G g.2161189T>G -218A>C - INS_000046 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD189 PubMed: Garin 2010 - F yes - - - - - - 1 Johan den Dunnen
-/. - c.-9C>T - r.(?) p.(=) Unknown - benign g.2182210G>A - INS-IGF2(NM_001042376.2):c.-9C>T (p.(=)) - IGF2_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.3G>A - M1I p.(Met1?) Both (homozygous) - pathogenic (recessive) g.2182199C>T g.2160969C>T M1I - INS_000044 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD169 PubMed: Garin 2010 - F yes - - - - - - 1 Johan den Dunnen
+/. - c.3G>T - r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.2182199C>A g.2160969C>A M1I - INS_000045 - PubMed: Garin 2010 - - Germline - - - - - DNA SEQ - - diabetes ISPAD170 PubMed: Garin 2010 - F yes - - - - - - 1 Johan den Dunnen
-?/. - c.6C>T - r.(?) p.(Ala2=) 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.16C>T - r.(?) p.(Arg6Cys) Parent #1 - pathogenic (dominant) g.2182186G>A g.2160956G>A R6C - INS_000043 - PubMed: Edghill 2008 - - Germline - - - - - DNA SEQ - - diabetes DUK197 PubMed: Edghill 2008 3-generation family, affected grandmother/mother/daughter F - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+?/. - c.17G>A - r.(?) p.(Arg6His) 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.17G>A - r.(?) p.(Arg6His) Parent #1 - pathogenic (dominant) g.2182185C>T g.2160955C>T R6H - IGF2_000045 - PubMed: Meur 2010 - - Germline - - - - - DNA SEQ - - diabetes DK.M132 PubMed: Meur 2010 3-generation family, 5 affected (2F, 3M) F;M - Denmark - - - - - 5 Johan den Dunnen
-?/. - c.36G>A - r.(?) p.(Ala12=) 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.63A>G - r.(?) p.(Pro21=) 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.67G>A - r.(?) p.(Ala23Thr) 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.67G>T - r.(?) p.(Ala23Ser) Unknown - pathogenic g.2182135C>A g.2160905C>A A23S - INS_000042 - PubMed: Liu 2010 - - Germline - - - - - DNA SEQ - - diabetes - PubMed: Liu 2010 - - - - - - - - - 1 Johan den Dunnen
+/. - c.71C>A - r.(?) p.(Ala24Asp) Unknown - pathogenic (dominant) g.2182131G>T g.2160901G>T - - INS_000028 - PubMed: Stoy 2007 - - De novo - - - - - DNA SEQ - - diabetes ISPAD158 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Japan Asia - - - - 1 Johan den Dunnen
+/. - c.71C>A - r.(?) p.(Ala24Asp) Unknown - pathogenic (dominant) g.2182131G>T g.2160901G>T - - INS_000028 - PubMed: Stoy 2007 - - De novo - - - - - DNA SEQ - - diabetes ISPAD151 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United Kingdom (Great Britain) Europe - - - - 1 Johan den Dunnen
+?/. - c.71C>T - r.(?) p.(Ala24Val) Parent #1 - likely pathogenic g.2182131G>A g.2160901G>A - - INS_000013 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80356663 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.85C>G - r.(?) p.(His29Asp) Parent #1 - pathogenic (dominant) g.2182117G>C g.2160887G>C H29D - INS_000041 - PubMed: Edghill 2008 - - Germline - - - - - DNA SEQ - - diabetes ISPAD162 PubMed: Edghill 2008 2-generation family, affected father/2 sons M - United Kingdom (Great Britain) - - - - - 3 Johan den Dunnen
+/. - c.85C>G - r.(?) p.(His29Asp) Parent #1 - pathogenic (dominant) g.2182117G>C g.2160887G>C H29D - INS_000041 - PubMed: Edghill 2008 - - Germline - - - - - DNA SEQ - - diabetes - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.88C>A - r.(?) p.(Leu30Met) Parent #1 - pathogenic (dominant) g.2182114G>T g.2160884G>T L30M - INS_000040 - PubMed: Meur 2010 - - Germline - - - - - DNA SEQ - - diabetes FrRAM PubMed: Meur 2010 3-generation family, 8 affected (3F, 5M) F;M - France - - - - - 8 Johan den Dunnen
+/. - c.88C>G - r.(?) p.(Leu30Val) Unknown - pathogenic (dominant) g.2182114G>C g.2160884G>C L30V - INS_000039 - PubMed: Colombo 2008 - - De novo - - - - - DNA SEQ - - diabetes KinI PubMed: Colombo 2008 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.89T>C - r.(?) p.(Leu30Pro) Unknown - pathogenic (dominant) g.2182113A>G g.2160883A>G L30P - INS_000038 - PubMed: Colombo 2008 - - De novo - - - - - DNA SEQ - - diabetes KinH PubMed: Colombo 2008 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.94G>A - r.(?) p.(Gly32Ser) Parent #1 - pathogenic g.2182108C>T g.2160878C>T - - INS_000012 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80356664 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.94G>A - r.(?) p.(Gly32Ser) Parent #1 - pathogenic (dominant) g.2182108C>T g.2160878C>T - - INS_000012 - PubMed: Stoy 2007 - - Germline - - - - - DNA SEQ - - diabetes FamUC41-proband PubMed: Stoy 2007 4-generation family, 5 affected (2F, 3M) F - United States Europe - - - - 5 Johan den Dunnen
+/. - c.94G>A - r.(?) p.(Gly32Ser) Unknown - pathogenic (dominant) g.2182108C>T g.2160878C>T - - INS_000012 - PubMed: Stoy 2007 - - De novo - - - - - DNA SEQ - - diabetes FamISPAD149 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents F - Macedonia Europe - - - - 1 Johan den Dunnen
+/. - c.94G>A - r.(?) p.(Gly32Ser) Parent #1 - pathogenic (dominant) g.2182108C>T g.2160878C>T G32S - INS_000012 - PubMed: Edghill 2008 - - Germline - - - - - DNA SEQ - - diabetes - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. - c.94G>A - r.(?) p.(Gly32Ser) Unknown - pathogenic g.2182108C>T - INS(NM_000207.2):c.94G>A (p.(Gly32Ser)) - INS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.94G>C - r.(?) p.(Gly32Arg) Unknown - pathogenic (dominant) g.2182108C>G g.2160878C>G - - INS_000027 - PubMed: Stoy 2007 - - De novo - - - - - DNA SEQ - - diabetes ISPAD154 PubMed: Stoy 2007 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Germany Middle East - - - - 1 Johan den Dunnen
+/. - c.94G>C - r.(?) p.(Gly32Arg) Parent #1 - pathogenic (dominant) g.2182108C>G g.2160878C>G G32R - INS_000027 - PubMed: Edghill 2008 - - Germline - - - - - DNA SEQ - - diabetes ISPAD166 PubMed: Edghill 2008 2-generation family, affected father/daughter,twin sosn F;M - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
?/. - c.95G>T - r.(?) p.(Gly32Val) 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.98C>G - r.(?) p.(Ser33Ter) 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.100C>G - r.(?) p.(His34Asp) Parent #1 - pathogenic (dominant) g.2182102G>C - CAC10GAC - INS_000017 - PubMed: Chan 1987 - - Germline yes - - - - DNA SEQ - - diabetes patient PubMed: Chan 1987 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.104T>C - r.(?) p.(Leu35Pro) Parent #1 - pathogenic (dominant) g.2182098A>G g.2160868A>G L35P - INS_000037 - PubMed: Edghill 2008 - - Germline - - - - - DNA SEQ - - diabetes - PubMed: Edghill 2008 - - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.104T>C - r.(?) p.(Leu35Pro) Parent #1 - pathogenic (dominant) g.2182098A>G g.2160868A>G L35P - INS_000037 - PubMed: Colombo 2008 - - Germline - - - - - DNA SEQ - - diabetes KinE PubMed: Colombo 2008 - M - Italy - - - - - 1 Johan den Dunnen
+/. - c.114_118delinsAC - r.(?) p.(Leu39_Tyr40delinsHis) Unknown - pathogenic (dominant) g.2182084_2182088delinsGT g.2160854_2160858delinsGT - - INS_000036 - PubMed: Colombo 2008 - - De novo - - - - - DNA SEQ - - diabetes KinD PubMed: Colombo 2008 - F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.116T>C - r.(?) p.(Leu39Pro) Unknown ACMG likely pathogenic (dominant) g.2182086A>G g.2160856A>G - - INS_000029 ACMG: PP3_STR, PS2_MOD, PM5, PM2_SUP; confirmed de novo, p.Leu39Phe described as pathogenic variant PMID: 35769090 - - De novo - - - - - DNA SEQ-NG-I - - IDDM2 28771 - - F no ? (unknown) - - - - - 1 Andreas Laner
+?/. - c.120C>G - r.(?) p.(Tyr40*) Unknown - likely pathogenic g.2182082G>C - INS(NM_000207.2):c.120C>G (p.(Tyr40Ter)) - IGF2_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.123del - r.(?) p.(Val42Cysfs*89) Unknown - likely pathogenic g.2182079del - INS(NM_000207.2):c.123del (p.(Val42Cysfs*89)) - IGF2_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.126del - r.(?) p.(Cys43Alafs*88) Unknown - likely pathogenic g.2182076del - INS(NM_000207.2):c.126del (p.(Cys43Alafs*88)) - IGF2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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