SIM1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 58439	GRCh38/hg38 6q16.1-16.3(chr6:97853776-102580597)x1	ASCC3, CCNC +68 more	Copy number loss	See cases	GPathogenic
Select item 58440	GRCh38/hg38 6q16.1-16.3(chr6:98668529-101266950)x1	COQ3, ASCC3 +53 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
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 930313	NM_005068.3(SIM1):c.2297G>T (p.Ser766Ile)	SIM1 (S766I)	Single nucleotide variant (missense variant)	See cases	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 3043346	NM_005068.3(SIM1):c.2283A>C (p.Ile761=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 792277	NM_005068.3(SIM1):c.2268G>A (p.Lys756=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely 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 3035551	NM_005068.3(SIM1):c.2259A>G (p.Gln753=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 739944	NM_005068.3(SIM1):c.2235G>A (p.Leu745=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3044356	NM_005068.3(SIM1):c.2226T>C (p.Thr742=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 1314039	NM_005068.3(SIM1):c.2205T>A (p.Asn735Lys)	SIM1 (N735K)	Single nucleotide variant (missense variant)	not provided	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 3054160	NM_005068.3(SIM1):c.2178C>T (p.Thr726=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 2292728	NM_005068.3(SIM1):c.2177C>T (p.Thr726Ile)	SIM1 (T726I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 436728	NM_005068.3(SIM1):c.2173G>A (p.Glu725Lys)	SIM1 (E725K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3036784	NM_005068.3(SIM1):c.2172C>T (p.Ser724=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 3023463	NM_005068.3(SIM1):c.2170A>T (p.Ser724Cys)	SIM1 (S724C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768498	NM_005068.3(SIM1):c.2168A>G (p.Asp723Gly)	SIM1 (D723G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2634416	NM_005068.3(SIM1):c.2158C>G (p.His720Asp)	SIM1 (H720D)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 2246911	NM_005068.3(SIM1):c.2148T>A (p.Tyr716Ter)	SIM1 (Y716*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 2633120	NM_005068.3(SIM1):c.2135C>T (p.Thr712Ile)	SIM1 (T712I)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 3051040	NM_005068.3(SIM1):c.2126A>C (p.His709Pro)	SIM1 (H709P)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 421271	NM_005068.3(SIM1):c.2123A>G (p.Lys708Arg)	SIM1 (K708R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 917477	NM_005068.3(SIM1):c.2107C>T (p.Arg703Trp)	SIM1 (R703W)	Single nucleotide variant (missense variant)	SIM1-related condition +1 more	GConflicting classifications of pathogenicity
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 1702622	NM_005068.3(SIM1):c.2093G>T (p.Cys698Phe)	SIM1 (C698F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3043797	NM_005068.3(SIM1):c.2079T>A (p.Thr693=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 2633670	NM_005068.3(SIM1):c.2075C>T (p.Pro692Leu)	SIM1 (P692L)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 3051546	NM_005068.3(SIM1):c.2044A>G (p.Ile682Val)	SIM1 (I682V)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
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 1702730	NM_005068.3(SIM1):c.2008A>G (p.Ser670Gly)	SIM1 (S670G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2470654	NM_005068.3(SIM1):c.1996A>G (p.Ile666Val)	SIM1 (I666V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3162284	NM_005068.3(SIM1):c.1993C>T (p.Arg665Cys)	SIM1 (R665C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 733656	NM_005068.3(SIM1):c.1989G>A (p.Ser663=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3061682	NM_005068.3(SIM1):c.1970G>A (p.Arg657Gln)	SIM1 (R657Q)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 2259547	NM_005068.3(SIM1):c.1960G>A (p.Ala654Thr)	SIM1 (A654T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1806549	NM_005068.3(SIM1):c.1942T>C (p.Tyr648His)	SIM1 (Y648H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 724976	NM_005068.3(SIM1):c.1932T>C (p.His644=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 549515	NM_005068.3(SIM1):c.1894C>T (p.His632Tyr)	SIM1 (H632Y)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GUncertain significance
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 756451	NM_005068.3(SIM1):c.1864T>C (p.Ser622Pro)	SIM1 (S622P)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GLikely benign
Select item 1972562	NM_005068.3(SIM1):c.1861G>A (p.Gly621Ser)	SIM1 (G621S)	Single nucleotide variant (missense variant)	SIM1-related condition +1 more	GUncertain significance
Select item 2727829	NM_005068.3(SIM1):c.1849G>A (p.Glu617Lys)	SIM1 (E617K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1878894	NM_005068.3(SIM1):c.1846G>C (p.Gly616Arg)	SIM1 (G616R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2632035	NM_005068.3(SIM1):c.1843A>C (p.Thr615Pro)	SIM1 (T615P)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 1701641	NM_005068.3(SIM1):c.1822A>G (p.Asn608Asp)	SIM1 (N608D)	Single nucleotide variant (missense variant)	Obesity with Prader-Willi like phenotype	GUncertain significance
Select item 1984161	NM_005068.3(SIM1):c.1814G>A (p.Cys605Tyr)	SIM1 (C605Y)	Single nucleotide variant (missense variant)	not provided	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 713941	NM_005068.3(SIM1):c.1793C>G (p.Ala598Gly)	SIM1 (A598G)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2026418	NM_005068.3(SIM1):c.1788T>C (p.Asn596=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 796934	NM_005068.3(SIM1):c.1782C>T (p.Ser594=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition +1 more	GLikely benign
Select item 3162283	NM_005068.3(SIM1):c.1759G>A (p.Ala587Thr)	SIM1 (A587T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3055150	NM_005068.3(SIM1):c.1744T>C (p.Leu582=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 3046262	NM_005068.3(SIM1):c.1741A>G (p.Arg581Gly)	SIM1 (R581G)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
Select item 1175747	NM_005068.3(SIM1):c.1728AGA[2] (p.Glu579del)	SIM1 (E579del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 917415	NM_005068.3(SIM1):c.1720A>G (p.Met574Val)	SIM1 (M574V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3049171	NM_005068.3(SIM1):c.1716G>A (p.Gln572=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 2320447	NM_005068.3(SIM1):c.1676A>G (p.His559Arg)	SIM1 (H559R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1702709	NM_005068.3(SIM1):c.1654G>A (p.Glu552Lys)	SIM1 (E552K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 917416	NM_005068.3(SIM1):c.1649G>A (p.Arg550His)	SIM1 (R550H)	Single nucleotide variant (missense variant)	SIM1-related condition +2 more	GUncertain significance
Select item 1679602	NM_005068.3(SIM1):c.1643G>A (p.Arg548Gln)	SIM1 (R548Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1336902	NM_005068.3(SIM1):c.1641C>T (p.Asp547=)	SIM1	Single nucleotide variant (synonymous variant)	not specified	GUncertain significance
Select item 3043938	NM_005068.3(SIM1):c.1623G>A (p.Ser541=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
Select item 2813847	NM_005068.3(SIM1):c.1611A>G (p.Pro537=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997986	NM_005068.3(SIM1):c.1605T>C (p.Ser535=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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