ClinVar for MedGen (Select 1711191) - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664354	NM_000207.3(INS):c.104T>A (p.Leu35Gln)	INS, INS-IGF2 (L35Q)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 1455986	NM_000207.3(INS):c.1A>G (p.Met1Val)	INS, INS-IGF2 (M1V)	Single nucleotide variant (missense variant +2 more)	Type 1 diabetes mellitus 2 +4 more	GPathogenic/Likely pathogenic
Select item 1317682	NM_000207.3(INS):c.-153C>G	INS	Single nucleotide variant	not provided +5 more	GConflicting classifications of pathogenicity
Select item 730224	NM_000207.3(INS):c.67G>A (p.Ala23Thr)	INS, INS-IGF2 (A23T)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 431443	NM_000207.3(INS):c.-152C>G	INS	Single nucleotide variant	Maturity-onset diabetes of the young type 10 +5 more	GPathogenic
Select item 431441	NM_000207.2(INS):c.-187_-164del	INS	Deletion	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 304058	NM_000207.3(INS):c.25C>T (p.Pro9Ser)	INS, INS-IGF2 (P9S)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10 +6 more	GUncertain significance
Select item 304057	NM_000207.3(INS):c.36G>A (p.Ala12=)	INS, INS-IGF2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 10 +7 more	GBenign/Likely benign
Select item 304051	NM_000207.3(INS):c.*22A>C	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +8 more	GConflicting classifications of pathogenicity
Select item 268153	NM_000207.3(INS):c.187+241G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 255532	NM_000207.3(INS):c.187+11T>C	INS, INS-IGF2 +1 more	Single nucleotide variant (intron variant)	Maturity-onset diabetes of the young type 10 +8 more	GBenign/Likely benign
Select item 211186	NM_000207.3(INS):c.188-31G>A	INS-IGF2, INS	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely risk allele
Select item 129279	NM_000207.3(INS):c.188-10G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal insulin-dependent diabetes mellitus +8 more	GBenign/Likely benign
Select item 68733	NM_000207.3(INS):c.85C>G (p.His29Asp)	INS, INS-IGF2 (H29D)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 68732	NM_000207.3(INS):c.308A>G (p.Tyr103Cys)	INS, INS-IGF2 (Y103C)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 68731	NM_000207.3(INS):c.302C>G (p.Ser101Cys)	INS, INS-IGF2 (S101C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 68729	NM_000207.3(INS):c.250G>A (p.Gly84Arg)	INS-IGF2, INS (G84R)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 65587	NM_000207.3(INS):c.3G>A (p.Met1Ile)	INS, INS-IGF2 (M1I)	Single nucleotide variant (missense variant +2 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 36400	NM_000207.3(INS):c.188-16C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal diabetes mellitus +7 more	GBenign/Likely benign
Select item 36399	NM_000207.3(INS):c.-9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity onset diabetes mellitus in young +7 more	GBenign/Likely benign
Select item 21122	NM_000207.3(INS):c.94G>A (p.Gly32Ser)	INS, INS-IGF2 (G32S)	Single nucleotide variant (missense variant +1 more)	Permanent neonatal diabetes mellitus +3 more	GPathogenic/Likely pathogenic
Select item 21120	NM_000207.3(INS):c.323A>G (p.Tyr108Cys)	INS, INS-IGF2 (Y108C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GLikely risk allele
Select item 21118	NM_000207.3(INS):c.268G>T (p.Gly90Cys)	INS, INS-IGF2 (G90C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 21117	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	INS, INS-IGF2 (R89C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 21115	NM_000207.3(INS):c.140G>T (p.Gly47Val)	INS, INS-IGF2 (G47V)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance
Select item 21114	NM_000207.3(INS):c.127T>G (p.Cys43Gly)	INS, INS-IGF2 (C43G)	Single nucleotide variant (missense variant +1 more)	Type 2 diabetes mellitus	GLikely risk allele
Select item 13391	NM_000207.3(INS):c.137G>A (p.Arg46Gln)	INS, INS-IGF2 (R46Q)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +1 more	GConflicting classifications of pathogenicity
Select item 13389	NM_000207.3(INS):c.143T>G (p.Phe48Cys)	INS-IGF2, INS (F48C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +1 more	GLikely pathogenic/Likely risk allele
Select item 13388	NM_000207.3(INS):c.71C>A (p.Ala24Asp)	INS, INS-IGF2 (A24D)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +1 more	GPathogenic/Likely risk allele
Select item 13387	NM_000207.3(INS):c.287G>A (p.Cys96Tyr)	INS, INS-IGF2 (C96Y)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +2 more	GConflicting classifications of pathogenicity
Select item 13381	NM_000207.3(INS):c.274G>T (p.Val92Leu)	INS-IGF2, INS (V92L)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4	GUncertain significance

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Items: 31