C1864952[trait identifier] AND "Clinical Genomics, Uppaluri K&H Person - ClinVar

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Items: 25

	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 330448	NM_000208.4(INSR):c.2946-14T>C	INSR	Single nucleotide variant (intron variant)	not provided +4 more	GBenign/Likely benign
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 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 condition +6 more	GConflicting classifications of pathogenicity
Select item 330451	NM_000208.4(INSR):c.2718T>C (p.Ala906=)	INSR	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 728985	NM_000208.4(INSR):c.2683-5C>T	INSR	Single nucleotide variant (intron variant)	Leprechaunism syndrome +5 more	GBenign/Likely benign
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 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 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 193565	NM_000208.4(INSR):c.2193G>A (p.Thr731=)	INSR	Single nucleotide variant (synonymous 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)	not provided +4 more	GBenign/Likely benign
Select item 330473	NM_000208.4(INSR):c.1098T>C (p.Ser366=)	INSR	Single nucleotide variant (synonymous variant)	Rabson-Mendenhall syndrome +5 more	GBenign/Likely benign
Select item 211187	NM_000208.4(INSR):c.1080C>T (p.Cys360=)	INSR	Single nucleotide variant (synonymous variant)	INSR-related condition +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)	not specified +5 more	GBenign/Likely benign
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 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 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)	INSR-related condition +6 more	GConflicting classifications of pathogenicity
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 330480	NM_000208.4(INSR):c.39G>C (p.Pro13=)	INSR	Single nucleotide variant (synonymous variant)	not provided +5 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

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Items: 25