C0265344[trait identifier] AND "Genetic Services Laboratory, Universit - ClinVar

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Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Rabson-Mendenhall syndrome +5 more	GUncertain significance
Select item 14707	NM_000208.4(INSR):c.3034G>A (p.Val1012Met)	INSR (V1012M +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 211195	NM_000208.4(INSR):c.2838C>G (p.Asp946Glu)	INSR (D946E +1 more)	Single nucleotide variant (missense variant)	INSR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 739582	NM_000208.4(INSR):c.2793G>A (p.Ala931=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GConflicting classifications of pathogenicity
Select item 211194	NM_000208.4(INSR):c.2736G>A (p.Arg912=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 728985	NM_000208.4(INSR):c.2683-5C>T	INSR	Single nucleotide variant (intron variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GBenign/Likely benign
Select item 330455	NM_000208.4(INSR):c.2573C>T (p.Thr858Met)	INSR (T858M +1 more)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
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 796295	NM_000208.4(INSR):c.2263C>T (p.Pro755Ser)	INSR (P755S)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 211190	NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)	INSR (S748L)	Single nucleotide variant (missense variant +1 more)	INSR-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 435518	NM_000208.4(INSR):c.2117C>A (p.Ala706Asp)	INSR (A706D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1049578	NM_000208.4(INSR):c.1550A>G (p.Glu517Gly)	INSR (E517G)	Single nucleotide variant (missense variant)	INSR-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 330473	NM_000208.4(INSR):c.1098T>C (p.Ser366=)	INSR	Single nucleotide variant (synonymous variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GBenign/Likely benign
Select item 211188	NM_000208.4(INSR):c.1084G>A (p.Val362Ile)	INSR (V362I)	Single nucleotide variant (missense variant)	Rabson-Mendenhall syndrome +5 more	GUncertain significance
Select item 211187	NM_000208.4(INSR):c.1080C>T (p.Cys360=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related disorder +6 more	GBenign/Likely benign
Select item 330474	NM_000208.4(INSR):c.909G>A (p.Gln303=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +6 more	GConflicting classifications of pathogenicity
Select item 435511	NM_000208.4(INSR):c.870C>T (p.His290=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +5 more	GBenign/Likely benign
Select item 14693	NM_000208.4(INSR):c.707A>G (p.His236Arg)	INSR (H236R)	Single nucleotide variant (missense variant)	Leprechaunism syndrome	GPathogenic
Select item 211198	NM_000208.4(INSR):c.687C>T (p.Thr229=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 330477	NM_000208.4(INSR):c.653-23TC[12]	INSR	Microsatellite (intron variant)	Rabson-Mendenhall syndrome +5 more	GConflicting classifications of pathogenicity
Select item 211197	NM_000208.4(INSR):c.653-23TC[11]	INSR	Microsatellite (intron variant)	not provided +4 more	GBenign
Select item 196236	NM_000208.4(INSR):c.653-23TC[9]	INSR	Microsatellite (intron variant)	Insulin-resistant diabetes mellitus AND acanthosis nigricans +5 more	GBenign
Select item 783815	NM_000208.4(INSR):c.653-7del	INSR	Deletion (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 742862	NM_000208.4(INSR):c.624A>G (p.Arg208=)	INSR	Single nucleotide variant (synonymous variant)	Leprechaunism syndrome +5 more	GConflicting classifications of pathogenicity
Select item 330478	NM_000208.4(INSR):c.618C>T (p.Val206=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 750075	NM_000208.4(INSR):c.489C>A (p.Ile163=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 330479	NM_000208.4(INSR):c.262T>C (p.Leu88=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +5 more	GBenign/Likely benign
Select item 435514	NM_000208.4(INSR):c.225C>T (p.Asp75=)	INSR	Single nucleotide variant (synonymous variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 195041	NM_000208.4(INSR):c.190T>C (p.Leu64=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +6 more	GConflicting classifications of pathogenicity
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 193063	NM_000208.4(INSR):c.5C>G (p.Ala2Gly)	INSR (A2G)	Single nucleotide variant (missense variant)	Leprechaunism syndrome +4 more	GBenign

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Items: 32