"Genetic Services Laboratory, University of Chicago"[submitter] AND "I - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 435510	NM_000207.3(INS):c.320ACT[1] (p.Tyr108del)	INS, INS-IGF2 (Y108del)	Microsatellite (inframe_deletion +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 68732	NM_000207.3(INS):c.308A>G (p.Tyr103Cys)	INS, INS-IGF2 (Y103C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2443150	NM_000207.3(INS):c.299G>A (p.Cys100Tyr)	INS, INS-IGF2 (C100Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 435508	NM_000207.3(INS):c.292A>T (p.Ser98Cys)	INS, INS-IGF2 (S98C)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance/Uncertain risk allele
Select item 1336487	NM_000207.3(INS):c.289A>C (p.Thr97Pro)	INS, INS-IGF2 (T97P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 21117	NM_000207.3(INS):c.265C>T (p.Arg89Cys)	INS, INS-IGF2 (R89C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus, permanent neonatal 4 +3 more	GConflicting classifications of pathogenicity
Select item 129279	NM_000207.3(INS):c.188-10G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	Type 1 diabetes mellitus 2 +8 more	GBenign/Likely benign
Select item 36400	NM_000207.3(INS):c.188-16C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal insulin-dependent diabetes mellitus +7 more	GBenign/Likely benign
Select item 211186	NM_000207.3(INS):c.188-31G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided +3 more	GPathogenic/Likely risk allele
Select item 435501	NM_000207.3(INS):c.188-96G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1337186	NM_000207.3(INS):c.188-97C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1337581	NM_000207.3(INS):c.188-114G>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1337685	NM_000207.3(INS):c.188-137A>T	INS-IGF2, INS	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 435502	NM_000207.3(INS):c.188-220C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	Neonatal insulin-dependent diabetes mellitus +1 more	GBenign/Likely benign
Select item 1337065	NM_000207.3(INS):c.188-233C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2443149	NM_000207.3(INS):c.187+391C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1336686	NM_000207.3(INS):c.187+271A>G	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 1337288	NM_000207.3(INS):c.187+203G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 13392	NM_000207.3(INS):c.163C>T (p.Arg55Cys)	INS, INS-IGF2 (R55C)	Single nucleotide variant (missense variant +1 more)	Monogenic diabetes +2 more	GPathogenic/Likely pathogenic/Likely risk allele
Select item 304054	NM_000207.3(INS):c.153A>G (p.Thr51=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1337436	NM_000207.3(INS):c.147C>T (p.Phe49=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GUncertain significance
Select item 1338640	NM_000207.3(INS):c.103C>G (p.Leu35Val)	INS, INS-IGF2 (L35V)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely pathogenic
Select item 1338622	NM_000207.3(INS):c.95G>T (p.Gly32Val)	INS, INS-IGF2 (G32V)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 21122	NM_000207.3(INS):c.94G>A (p.Gly32Ser)	INS, INS-IGF2 (G32S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 36401	NM_000207.3(INS):c.71C>T (p.Ala24Val)	INS, INS-IGF2 (A24V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 13388	NM_000207.3(INS):c.71C>A (p.Ala24Asp)	INS-IGF2, INS (A24D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely risk allele
Select item 435503	NM_000207.3(INS):c.-17-70G>A	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1336766	NM_000207.3(INS):c.-17-74T>C	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 435504	NM_000207.3(INS):c.-18+62C>T	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +2 more)	not specified +1 more	GUncertain significance
Select item 435505	NM_000207.3(INS):c.-18+22G>A	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 435507	NM_000207.3(INS):c.-18+21C>T	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	Neonatal insulin-dependent diabetes mellitus +1 more	GBenign/Likely benign
Select item 1336658	NM_000207.3(INS):c.-46A>G	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1337077	NM_000207.2(INS):c.-88A>G	INS	Single nucleotide variant	not specified	GUncertain significance
Select item 435509	NM_000207.2(INS):c.-139A>G	INS	Single nucleotide variant	Type 2 diabetes mellitus +2 more	GConflicting classifications of pathogenicity
Select item 1336162	NM_000207.2(INS):c.-146A>C	INS	Single nucleotide variant	not specified	GLikely benign
Select item 435506	NM_000207.2(INS):c.-147del	INS	Deletion	not provided +2 more	GBenign
Select item 431443	NM_000207.3(INS):c.-152C>G	INS	Single nucleotide variant	Diabetes mellitus, permanent neonatal 4 +5 more	GConflicting classifications of pathogenicity
Select item 431442	NM_000207.2(INS):c.-152C>A	INS	Single nucleotide variant	INS-related condition +1 more	GPathogenic/Likely pathogenic
Select item 1317682	NM_000207.3(INS):c.-153C>G	INS	Single nucleotide variant	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1336720	NM_000207.2(INS):c.-293C>T	INS	Single nucleotide variant	not specified	GUncertain significance
Select item 1336035	NM_000207.2(INS):c.-379_-372dup	INS	Duplication	not specified	GBenign
Select item 1337069	NM_000207.2(INS):c.-485_-430del	INS, LOC109623489	Deletion	not specified	GBenign
Select item 1337497	NM_000207.2(INS):c.-439G>A	INS, LOC109623489	Single nucleotide variant	not specified	GUncertain significance
Select item 1336428	NM_000207.2(INS):c.-449_-443del	INS, LOC109623489	Deletion	not specified	GBenign
Select item 1252995	NM_000207.2(INS):c.-463_-451del	INS, LOC109623489	Deletion	not provided +1 more	GBenign

ClinVar

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Items: 45