ClinVar for MedGen (Select 355335) - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340447	NM_000208.4(INSR):c.3196C>T (p.Arg1066Ter)	INSR (R1054* +1 more)	Single nucleotide variant (nonsense)	Hyperinsulinism due to INSR deficiency	GPathogenic
Select item 3340446	NM_000208.4(INSR):c.3610G>A (p.Ala1204Thr)	INSR (A1192T +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to INSR deficiency	GLikely pathogenic
Select item 2671776	NM_000208.4(INSR):c.1973T>G (p.Phe658Cys)	INSR (F658C)	Single nucleotide variant (missense variant)	Hyperinsulinism due to INSR deficiency	GUncertain significance
Select item 2664855	NM_000208.4(INSR):c.704G>T (p.Cys235Phe)	INSR (C235F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1049578	NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)	INSR (E517G)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 892937	NM_000208.4(INSR):c.2121C>T (p.Gly707=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +3 more	GUncertain significance
Select item 892834	NM_000208.4(INSR):c.2829C>T (p.Tyr943=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +4 more	GConflicting classifications of pathogenicity
Select item 816941	NM_000208.4(INSR):c.1573C>T (p.Arg525Ter)	INSR (R525*)	Single nucleotide variant (nonsense)	Hyperinsulinism due to INSR deficiency +1 more	GLikely pathogenic
Select item 783815	NM_000208.4(INSR):c.653-7del	INSR	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 780507	NM_000208.4(INSR):c.1989G>A (p.Ala663=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +4 more	GBenign/Likely benign
Select item 742862	NM_000208.4(INSR):c.624A>G (p.Arg208=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 739582	NM_000208.4(INSR):c.2793G>A (p.Ala931=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +5 more	GConflicting classifications of pathogenicity
Select item 728985	NM_000208.4(INSR):c.2683-5C>T	INSR	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 631539	NM_000208.4(INSR):c.3143G>A (p.Gly1048Asp)	INSR (G1048D +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +3 more	GUncertain significance
Select item 594684	NM_000208.4(INSR):c.653-9_653-7delinsC	INSR	Indel (intron variant)	Rabson-Mendenhall syndrome +4 more	GBenign/Likely benign
Select item 549552	NM_000208.4(INSR):c.2388G>C (p.Arg796Ser)	INSR (R796S +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +6 more	GConflicting classifications of pathogenicity
Select item 502299	NM_000208.4(INSR):c.2498G>A (p.Arg833Gln)	INSR (R833Q +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance/Uncertain risk allele
Select item 435517	NM_000208.4(INSR):c.3775G>A (p.Asp1259Asn)	INSR (D1259N +1 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance/Uncertain risk allele
Select item 435516	NM_000208.4(INSR):c.3410T>C (p.Ile1137Thr)	INSR (I1137T +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GUncertain significance
Select item 435514	NM_000208.4(INSR):c.225C>T (p.Asp75=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +5 more	GConflicting classifications of pathogenicity
Select item 435511	NM_000208.4(INSR):c.870C>T (p.His290=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GBenign/Likely benign
Select item 330481	NM_000208.4(INSR):c.14G>A (p.Gly5Asp)	INSR (G5D)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +4 more	GUncertain significance
Select item 330480	NM_000208.4(INSR):c.39G>C (p.Pro13=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +4 more	GConflicting classifications of pathogenicity
Select item 330479	NM_000208.4(INSR):c.262T>C (p.Leu88=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 330478	NM_000208.4(INSR):c.618C>T (p.Val206=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +5 more	GBenign/Likely benign
Select item 330475	NM_000208.4(INSR):c.783C>T (p.Asp261=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 330474	NM_000208.4(INSR):c.909G>A (p.Gln303=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +5 more	GConflicting classifications of pathogenicity
Select item 330473	NM_000208.4(INSR):c.1098T>C (p.Ser366=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 330471	NM_000208.4(INSR):c.1628C>T (p.Thr543Met)	INSR (T543M)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +4 more	GUncertain significance
Select item 330462	NM_000208.4(INSR):c.2295C>T (p.Gly765=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 330455	NM_000208.4(INSR):c.2573C>T (p.Thr858Met)	INSR (T858M +1 more)	Single nucleotide variant (missense variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +6 more	GConflicting classifications of pathogenicity
Select item 330453	NM_000208.4(INSR):c.2643C>T (p.Ile881=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +4 more	GBenign/Likely benign
Select item 330452	NM_000208.4(INSR):c.2682+9C>G	INSR	Single nucleotide variant (intron variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +4 more	GBenign/Likely benign
Select item 330451	NM_000208.4(INSR):c.2718T>C (p.Ala906=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +4 more	GBenign/Likely benign
Select item 330448	NM_000208.4(INSR):c.2946-14T>C	INSR	Single nucleotide variant (intron variant)	Leprechaunism syndrome +4 more	GBenign/Likely benign
Select item 289211	NM_000208.4(INSR):c.41T>C (p.Leu14Pro)	INSR (L14P)	Single nucleotide variant (missense variant)	Monogenic diabetes +6 more	GConflicting classifications of pathogenicity
Select item 282255	NM_000208.4(INSR):c.2665C>T (p.Arg889Trp)	INSR (R889W +1 more)	Single nucleotide variant (missense variant)	INSR-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 211198	NM_000208.4(INSR):c.687C>T (p.Thr229=)	INSR	Single nucleotide variant (synonymous variant)	Hyperinsulinism due to INSR deficiency +5 more	GBenign/Likely benign
Select item 211196	NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)	INSR (L991I +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 211194	NM_000208.4(INSR):c.2736G>A (p.Arg912=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 211189	NM_000208.4(INSR):c.1610+2T>C	INSR	Single nucleotide variant (splice donor variant)	Hyperinsulinism due to INSR deficiency	GPathogenic
Select item 211187	NM_000208.4(INSR):c.1080C>T (p.Cys360=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 196236	NM_000208.4(INSR):c.653-23TC[9]	INSR	Microsatellite (intron variant)	not specified +5 more	GBenign
Select item 195041	NM_000208.4(INSR):c.190T>C (p.Leu64=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 194702	NM_000208.4(INSR):c.3193C>G (p.Leu1065Val)	INSR (L1065V +1 more)	Single nucleotide variant (missense variant)	Hyperinsulinism due to INSR deficiency +4 more	GUncertain significance
Select item 193565	NM_000208.4(INSR):c.2193G>A (p.Thr731=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 14708	NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)	INSR (R1189Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 14697	NM_000208.4(INSR):c.3059G>A (p.Arg1020Gln)	INSR (R1008Q +1 more)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +3 more	GLikely pathogenic

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Items: 48