"GeneDx"[submitter] AND "INS"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 59748	GRCh38/hg38 11p15.5-15.4(chr11:218365-3377077)x3	ANO9, AP2A2 +266 more	Copy number gain	See cases	GPathogenic
Select item 1269776	NC_000011.10:g.2159542C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275239	NC_000011.10:g.2159566C>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265784	NC_000011.10:g.2159615G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
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 255531	NM_000207.3(INS):c.*9C>T	INS, INS-IGF2 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +5 more	GBenign/Likely benign
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 1049511	NM_000207.3(INS):c.227G>A (p.Ser76Asn)	INS, INS-IGF2 (S76N)	Single nucleotide variant (missense variant +1 more)	Type 1 diabetes mellitus 2 +4 more	GConflicting classifications of pathogenicity
Select item 2428828	NM_000207.3(INS):c.188-5_188-4insGCGCAGTGGGGCACCTGCCACTGCGC	INS, INS-IGF2	Microsatellite (intron variant)	not provided	GUncertain significance
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 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 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 1232756	NM_000207.3(INS):c.188-111C>T	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239524	NM_000207.3(INS):c.188-168G>C	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1211544	NM_000207.3(INS):c.187+282G>A	INS, INS-IGF2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 13392	NM_000207.3(INS):c.163C>T (p.Arg55Cys)	INS, INS-IGF2 (R55C)	Single nucleotide variant (missense variant +1 more)	Diabetes mellitus type 1 +2 more	GPathogenic/Likely pathogenic/Likely risk allele
Select item 304055	NM_000207.3(INS):c.130G>A (p.Gly44Arg)	INS, INS-IGF2 (G44R)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10 +2 more	GConflicting classifications of pathogenicity
Select item 253331	NM_000207.3(INS):c.125T>C (p.Val42Ala)	INS, INS-IGF2 (V42A)	Single nucleotide variant (missense variant +1 more)	Maturity-onset diabetes of the young type 10 +1 more	GConflicting classifications of pathogenicity
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 255533	NM_000207.3(INS):c.63A>G (p.Pro21=)	INS, INS-IGF2	Single nucleotide variant (synonymous variant +1 more)	Maturity-onset diabetes of the young type 10 +3 more	GConflicting classifications of pathogenicity
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 3364832	NM_000207.3(INS):c.35C>T (p.Ala12Val)	INS, INS-IGF2 (A12V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 304059	NM_000207.3(INS):c.-17-6T>A	INS, INS-IGF2 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +4 more	GBenign
Select item 1261033	NM_000207.3(INS):c.-18+38A>G	INS, INS-IGF2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 304060	NM_000207.3(INS):c.-18+4_-18+5insTTGC	INS, INS-IGF2 +1 more	Insertion (5 prime UTR variant +1 more)	Maturity-onset diabetes of the young type 10 +4 more	GConflicting classifications of pathogenicity
Select item 1291923	NC_000011.10:g.2161265C>G	INS	Single nucleotide variant	not provided	GBenign
Select item 435506	NM_000207.2(INS):c.-147del	INS	Deletion	not provided +2 more	GBenign
Select item 2634300	NM_000207.2(INS):c.-152C>T	INS	Single nucleotide variant	not provided +1 more	GUncertain significance
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 431442	NC_000011.10:g.2161302G>T	INS	Single nucleotide variant	not provided	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 3371258	NC_000011.10:g.2161308G>A	INS	Single nucleotide variant	not provided	GUncertain significance
Select item 1252995	NM_000207.2(INS):c.-463_-451del	INS, LOC109623489	Deletion	not provided +1 more	GBenign
Select item 304062	NM_000360.4(TH):c.*277G>A	INS, TH	Single nucleotide variant (3 prime UTR variant)	Maturity onset diabetes mellitus in young +4 more	GConflicting classifications of pathogenicity
Select item 304066	NM_000360.4(TH):c.1401C>T (p.Asp467=)	INS, TH	Single nucleotide variant (synonymous variant)	Maturity onset diabetes mellitus in young +3 more	GBenign/Likely benign
Select item 304069	NM_000360.4(TH):c.1278G>A (p.Thr426=)	INS, TH	Single nucleotide variant (synonymous variant)	Autosomal recessive DOPA responsive dystonia +4 more	GBenign/Likely benign
Select item 263251	NM_000360.4(TH):c.1200+9C>T	INS, TH	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 253743	GRCh37/hg19 11p15.5(chr11:2181002-2182229)x1	INS-IGF2, INS	Copy number loss	See cases	GUncertain significance

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Items: 41