"Illumina Laboratory Services, Illumina"[submitter] AND "SIM1"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 354660	NM_005068.3(SIM1):c.*1484T>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 354662	NM_005068.3(SIM1):c.*1447TG[4]	SIM1	Microsatellite (3 prime UTR variant)	Schaaf-Yang syndrome	GUncertain significance
Select item 354661	NM_005068.3(SIM1):c.*1453G>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 904642	NM_005068.3(SIM1):c.*1369C>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354663	NM_005068.3(SIM1):c.*1331T>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354664	NM_005068.3(SIM1):c.*1278C>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 904643	NM_005068.3(SIM1):c.*1132A>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GLikely benign
Select item 354665	NM_005068.3(SIM1):c.*1125T>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905431	NM_005068.3(SIM1):c.*999T>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 905432	NM_005068.3(SIM1):c.*937C>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GLikely benign
Select item 905433	NM_005068.3(SIM1):c.*873T>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905434	NM_005068.3(SIM1):c.*775G>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354666	NM_005068.3(SIM1):c.*589G>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354667	NM_005068.3(SIM1):c.*583G>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905435	NM_005068.3(SIM1):c.*521A>G	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905949	NM_005068.3(SIM1):c.*470C>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 354668	NM_005068.3(SIM1):c.*450T>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354669	NM_005068.3(SIM1):c.*375C>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 354670	NM_005068.3(SIM1):c.*348A>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 354671	NM_005068.3(SIM1):c.*183A>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GLikely benign
Select item 905950	NM_005068.3(SIM1):c.*128C>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354672	NM_005068.3(SIM1):c.*113A>T	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 354673	NM_005068.3(SIM1):c.*99G>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 908027	NM_005068.3(SIM1):c.*56A>C	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354674	NM_005068.3(SIM1):c.*51G>A	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 908028	NM_005068.3(SIM1):c.*15A>G	SIM1	Single nucleotide variant (3 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 735341	NM_005068.3(SIM1):c.2292C>T (p.Asn764=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition +2 more	GBenign/Likely benign
Select item 813617	NM_005068.3(SIM1):c.2267A>G (p.Lys756Arg)	SIM1 (K756R)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354675	NM_005068.3(SIM1):c.2194T>C (p.Leu732=)	SIM1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 908029	NM_005068.3(SIM1):c.2193C>T (p.Ser731=)	SIM1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 254101	NM_005068.3(SIM1):c.2119G>C (p.Asp707His)	SIM1 (D707H)	Single nucleotide variant (missense variant)	SIM1-related condition +5 more	GConflicting classifications of pathogenicity
Select item 354676	NM_005068.3(SIM1):c.2111A>T (p.Gln704Leu)	SIM1 (Q704L)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +1 more	GUncertain significance
Select item 904716	NM_005068.3(SIM1):c.2108G>A (p.Arg703Gln)	SIM1 (R703Q)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 728950	NM_005068.3(SIM1):c.2100C>G (p.Gly700=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 904717	NM_005068.3(SIM1):c.2039C>T (p.Ser680Leu)	SIM1 (S680L)	Single nucleotide variant (missense variant)	SIM1-related condition +1 more	GUncertain significance
Select item 254102	NM_005068.3(SIM1):c.1994G>A (p.Arg665His)	SIM1 (R665H)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +2 more	GBenign
Select item 904718	NM_005068.3(SIM1):c.1959C>T (p.Thr653=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 904719	NM_005068.3(SIM1):c.1865C>T (p.Ser622Phe)	SIM1 (S622F)	Single nucleotide variant (missense variant)	SIM1-related condition +1 more	GUncertain significance
Select item 904720	NM_005068.3(SIM1):c.1802A>G (p.Lys601Arg)	SIM1 (K601R)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354677	NM_005068.3(SIM1):c.1569T>C (p.His523=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 905503	NM_005068.3(SIM1):c.1545C>T (p.His515=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905504	NM_005068.3(SIM1):c.1452C>G (p.Ala484=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	SIM1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 905505	NM_005068.3(SIM1):c.1352T>A (p.Leu451His)	SIM1, SIM1-AS1 (L451H)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905506	NM_005068.3(SIM1):c.1327A>G (p.Ser443Gly)	SIM1, SIM1-AS1 (S443G)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 905507	NM_005068.3(SIM1):c.1260G>C (p.Leu420=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354678	NM_005068.3(SIM1):c.1236C>A (p.Thr412=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency +1 more	GBenign/Likely benign
Select item 905508	NM_005068.3(SIM1):c.1193C>T (p.Ser398Leu)	SIM1, SIM1-AS1 (S398L)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 906016	NM_005068.3(SIM1):c.1147A>G (p.Arg383Gly)	SIM1, SIM1-AS1 (R383G)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +1 more	GUncertain significance
Select item 354679	NM_005068.3(SIM1):c.1125C>T (p.Leu375=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354680	NM_005068.3(SIM1):c.1112C>T (p.Ala371Val)	SIM1, SIM1-AS1 (A371V)	Single nucleotide variant (missense variant)	SIM1-related condition +2 more	GBenign
Select item 285976	NM_005068.3(SIM1):c.1082C>T (p.Thr361Ile)	SIM1, SIM1-AS1 (T361I)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +2 more	GBenign/Likely benign
Select item 906017	NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser)	SIM1, SIM1-AS1 (P352S)	Single nucleotide variant (missense variant)	SIM1-related condition +1 more	GUncertain significance
Select item 354681	NM_005068.3(SIM1):c.1054C>A (p.Pro352Thr)	SIM1-AS1, SIM1 (P352T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 906018	NM_005068.3(SIM1):c.994C>T (p.Leu332Phe)	SIM1 (L332F)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 906019	NM_005068.3(SIM1):c.916T>C (p.Trp306Arg)	SIM1 (W306R)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354682	NM_005068.3(SIM1):c.816C>T (p.Cys272=)	SIM1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354684	NM_005068.3(SIM1):c.804T>C (p.His268=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 354683	NM_005068.3(SIM1):c.804T>G (p.His268Gln)	SIM1 (H268Q)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354685	NM_005068.3(SIM1):c.743+10C>G	SIM1	Single nucleotide variant (intron variant)	SIM1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 907035	NM_005068.3(SIM1):c.628C>T (p.Leu210=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 436727	NM_005068.3(SIM1):c.624G>A (p.Val208=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 354686	NM_005068.3(SIM1):c.544-15A>C	SIM1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 729151	NM_005068.3(SIM1):c.383T>C (p.Ile128Thr)	SIM1 (I128T)	Single nucleotide variant (missense variant)	SIM1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 907036	NM_005068.3(SIM1):c.289C>A (p.Pro97Thr)	SIM1 (P97T)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 285978	NM_005068.3(SIM1):c.279C>T (p.Phe93=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 904786	NM_005068.3(SIM1):c.264G>A (p.Leu88=)	SIM1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 904787	NM_005068.3(SIM1):c.226G>A (p.Val76Ile)	SIM1 (V76I)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354687	NM_005068.3(SIM1):c.-58T>C	SIM1	Single nucleotide variant (5 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 904788	NM_005068.3(SIM1):c.-90C>A	SIM1	Single nucleotide variant (5 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 354688	NM_005068.3(SIM1):c.-127T>C	SIM1	Single nucleotide variant (5 prime UTR variant)	Obesity due to SIM1 deficiency	GBenign
Select item 354689	NM_005068.3(SIM1):c.-181T>A	SIM1	Single nucleotide variant (5 prime UTR variant)	Obesity due to SIM1 deficiency	GUncertain significance
Select item 354690	NM_005068.3(SIM1):c.-200del	SIM1	Deletion (5 prime UTR variant)	Schaaf-Yang syndrome	GUncertain significance

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Items: 72