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Links from MedGen

Items: 31

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)		Review status
1.
GRCh37:
Chr11:2182047
GRCh38:
Chr11:2160817
INS, INS-IGF2P52HMaturity-onset diabetes of the young type 10Uncertain significance
(Oct 26, 2020)		criteria provided, single submitter
2.
GRCh37:
Chr11:2182201
GRCh38:
Chr11:2160971
INS, INS-IGF2M1VType 1 diabetes mellitus 2, Maturity-onset diabetes of the young type 10, Hyperproinsulinemia,
Diabetes mellitus, permanent neonatal 4, not provided		Pathogenic/Likely pathogenic
(May 13, 2022)		criteria provided, multiple submitters, no conflicts
3.
GRCh37:
Chr11:2182533
GRCh38:
Chr11:2161303
INSMaturity-onset diabetes of the young type 10, Hyperproinsulinemia, Diabetes mellitus, permanent neonatal 4,
Type 1 diabetes mellitus 2, not specified, not provided,
Maturity-onset diabetes of the young type 10		Conflicting interpretations of pathogenicity
(Aug 9, 2022)		criteria provided, conflicting interpretations
4.
GRCh37:
Chr11:2182087
GRCh38:
Chr11:2160857
IGF2, INS, INS-IGF2L39FMaturity onset diabetes mellitus in young, Maturity-onset diabetes of the young type 10Likely pathogenic
(Feb 23, 2020)		criteria provided, single submitter
5.
GRCh37:
Chr11:2181188
GRCh38:
Chr11:2159958
INS, INS-IGF2S76NType 1 diabetes mellitus 2, Maturity-onset diabetes of the young type 10, Hyperproinsulinemia,
not specified, not provided		Conflicting interpretations of pathogenicity
(Sep 8, 2023)		criteria provided, conflicting interpretations
6.
GRCh37:
Chr11:2182047
GRCh38:
Chr11:2160817
INS, INS-IGF2P52LMaturity-onset diabetes of the young type 10Pathogenic
(Jan 10, 2020)		criteria provided, single submitter
7.
GRCh37:
Chr11:2182130
GRCh38:
Chr11:2160900
INS, INS-IGF2Maturity-onset diabetes of the young type 10, not provided, Neonatal insulin-dependent diabetes mellitus,
Inborn genetic diseases, Transient Neonatal Diabetes, Dominant/Recessive		Benign/Likely benign
(Oct 3, 2022)		criteria provided, multiple submitters, no conflicts
8.
GRCh37:
Chr11:2182000
GRCh38:
Chr11:2160770
INS, INS-IGF2Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10Uncertain significance
(Jan 13, 2018)		criteria provided, single submitter
9.
GRCh37:
Chr11:2182135
GRCh38:
Chr11:2160905
INS, INS-IGF2A23Tnot specified, not provided, Maturity-onset diabetes of the young type 10,
Diabetes mellitus, permanent neonatal 4, Type 1 diabetes mellitus 2, Maturity-onset diabetes of the young type 10,
Hyperproinsulinemia, Transient Neonatal Diabetes, Dominant/Recessive		Benign/Likely benign
(Jun 20, 2023)		criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr11:2181125
GRCh38:
Chr11:2159895
INS, INS-IGF2T97SNeonatal insulin-dependent diabetes mellitus, Maturity-onset diabetes of the young type 10Conflicting interpretations of pathogenicity
(Sep 7, 2017)		criteria provided, conflicting interpretations
11.
GRCh37:
Chr11:2182532
GRCh38:
Chr11:2161302
INSnot specified, Maturity-onset diabetes of the young type 10, Type 1 diabetes mellitus 2,
Diabetes mellitus, permanent neonatal 4, Hyperproinsulinemia, not provided
Pathogenic
(Mar 14, 2023)		criteria provided, multiple submitters, no conflicts
12.
GRCh37:
Chr11:2182395
GRCh38:
Chr11:2161165
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
13.
GRCh37:
Chr11:2182224
GRCh38:
Chr11:2160994
INS, INS-IGF2, THMaturity onset diabetes mellitus in young, not provided, Autosomal recessive DOPA responsive dystonia,
Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive		Benign
(Jan 12, 2018)		criteria provided, multiple submitters, no conflicts
14.
GRCh37:
Chr11:2182177
GRCh38:
Chr11:2160947
INS, INS-IGF2P9SINS-related condition, Neonatal insulin-dependent diabetes mellitus, Diabetes mellitus, permanent neonatal 4,
Maturity-onset diabetes of the young type 10, Type 1 diabetes mellitus 2, Hyperproinsulinemia,
Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10		Uncertain significance
(Nov 15, 2022)		criteria provided, multiple submitters, no conflicts
15.
GRCh37:
Chr11:2182166
GRCh38:
Chr11:2160936
INS, INS-IGF2, THnot provided, Autosomal recessive DOPA responsive dystonia, Type 1 diabetes mellitus 2,
Hyperproinsulinemia, Maturity-onset diabetes of the young type 10, Diabetes mellitus, permanent neonatal 4,
Maturity onset diabetes mellitus in young, Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10
Benign/Likely benign
(Sep 13, 2022)		criteria provided, multiple submitters, no conflicts
16.
GRCh37:
Chr11:2182072
GRCh38:
Chr11:2160842
INS, INS-IGF2G44Rnot provided, Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Aug 15, 2019)		criteria provided, conflicting interpretations
17.
GRCh37:
Chr11:2182049
GRCh38:
Chr11:2160819
INS, INS-IGF2not specified, Maturity-onset diabetes of the young type 10, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Apr 6, 2020)		criteria provided, conflicting interpretations
18.
GRCh37:
Chr11:2181230
GRCh38:
Chr11:2160000
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
19.
GRCh37:
Chr11:2181080
GRCh38:
Chr11:2159850
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 12, 2018)		criteria provided, conflicting interpretations
20.
GRCh37:
Chr11:2181060
GRCh38:
Chr11:2159830
INS, INS-IGF2, THAutosomal recessive DOPA responsive dystonia, Hyperproinsulinemia, Maturity onset diabetes mellitus in young,
not provided, Diabetes mellitus type 1, Diabetes mellitus, permanent neonatal 4,
Transient Neonatal Diabetes, Dominant/Recessive, Maturity-onset diabetes of the young type 10, Type 1 diabetes mellitus 2
Conflicting interpretations of pathogenicity
(Jul 14, 2021)		criteria provided, conflicting interpretations
21.
GRCh37:
Chr11:2181054
GRCh38:
Chr11:2159824
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
22.
GRCh37:
Chr11:2181040
GRCh38:
Chr11:2159810
INS, INS-IGF2Maturity-onset diabetes of the young type 10, Neonatal insulin-dependent diabetes mellitus, Transient Neonatal Diabetes, Dominant/Recessive
Conflicting interpretations of pathogenicity
(Jan 13, 2018)		criteria provided, conflicting interpretations
23.
GRCh37:
Chr11:2182004
GRCh38:
Chr11:2160774
INS, INS-IGF2, THnot specified, Autosomal recessive DOPA responsive dystonia, not provided,
Type 1 diabetes mellitus 2, Hyperproinsulinemia, Maturity-onset diabetes of the young type 10,
Diabetes mellitus, permanent neonatal 4, Transient Neonatal Diabetes, Dominant/Recessive, Maturity onset diabetes mellitus in young,
Maturity-onset diabetes of the young type 10		Benign/Likely benign
(Oct 30, 2022)		criteria provided, multiple submitters, no conflicts
24.
GRCh37:
Chr11:2181073
GRCh38:
Chr11:2159843
INS, INS-IGF2, THnot provided, not specified, Maturity-onset diabetes of the young type 10,
Transient Neonatal Diabetes, Dominant/Recessive, Autosomal recessive DOPA responsive dystonia, Maturity onset diabetes mellitus in young
Benign/Likely benign
(Aug 2, 2017)		criteria provided, multiple submitters, no conflicts
25.
GRCh37:
Chr11:2182077
GRCh38:
Chr11:2160847
INS-IGF2, INSV42AMaturity-onset diabetes of the young type 10Likely pathogenic
(Jan 20, 2022)		criteria provided, single submitter
26.
GRCh37:
Chr11:2181237
GRCh38:
Chr11:2160007
INS, INS-IGF2Type 1 diabetes mellitus 2, Maturity-onset diabetes of the young type 10, Hyperproinsulinemia,
Diabetes mellitus, permanent neonatal 4, Transient Neonatal Diabetes, Dominant/Recessive, not specified,
Maturity onset diabetes mellitus in young, not provided, Maturity-onset diabetes of the young type 10,
Neonatal insulin-dependent diabetes mellitus		Benign/Likely benign
(Oct 2, 2022)		criteria provided, multiple submitters, no conflicts
27.
GRCh37:
Chr11:2182185
GRCh38:
Chr11:2160955
INS, INS-IGF2R6HINS-related conditionUncertain significance
(Apr 12, 2023)		criteria provided, single submitter
28.
GRCh37:
Chr11:2181243
GRCh38:
Chr11:2160013
INS, INS-IGF2Hyperproinsulinemia, Diabetes mellitus, permanent neonatal 4, Maturity-onset diabetes of the young type 10,
Type 1 diabetes mellitus 2, not specified, not provided,
Neonatal diabetes mellitus, Neonatal insulin-dependent diabetes mellitus		Benign/Likely benign
(Jul 26, 2022)		criteria provided, multiple submitters, no conflicts
29.
GRCh37:
Chr11:2182210
GRCh38:
Chr11:2160980
INS, INS-IGF2, THTransient Neonatal Diabetes, Dominant/Recessive, not specified, not provided,
Maturity onset diabetes mellitus in young, Neonatal diabetes mellitus, Maturity-onset diabetes of the young type 10,
Autosomal recessive DOPA responsive dystonia		Benign/Likely benign
(Feb 1, 2023)		criteria provided, multiple submitters, no conflicts
30.
GRCh37:
Chr11:2182065
GRCh38:
Chr11:2160835
INS, INS-IGF2R46Qnot providedLikely pathogenic
(Sep 1, 2021)		criteria provided, single submitter
31.
GRCh37:
Chr11:2182186
GRCh38:
Chr11:2160956
INS, INS-IGF2R6CMaturity-onset diabetes of the young type 10Pathogenic
(Apr 1, 2008)		no assertion criteria provided
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