"PreventionGenetics, part of Exact Sciences"[submitter] AND "SIM1"[gen - ClinVar

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Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 735341	NM_005068.3(SIM1):c.2292C>T (p.Asn764=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder +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 disorder	GLikely benign
Select item 3035551	NM_005068.3(SIM1):c.2259A>G (p.Gln753=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 3044356	NM_005068.3(SIM1):c.2226T>C (p.Thr742=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 3054160	NM_005068.3(SIM1):c.2178C>T (p.Thr726=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 436728	NM_005068.3(SIM1):c.2173G>A (p.Glu725Lys)	SIM1 (E725K)	Single nucleotide variant (missense variant)	SIM1-related disorder +2 more	GUncertain significance
Select item 3036784	NM_005068.3(SIM1):c.2172C>T (p.Ser724=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 2634416	NM_005068.3(SIM1):c.2158C>G (p.His720Asp)	SIM1 (H720D)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 2633120	NM_005068.3(SIM1):c.2135C>T (p.Thr712Ile)	SIM1 (T712I)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3051040	NM_005068.3(SIM1):c.2126A>C (p.His709Pro)	SIM1 (H709P)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 254101	NM_005068.3(SIM1):c.2119G>C (p.Asp707His)	SIM1 (D707H)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GConflicting classifications of pathogenicity
Select item 917477	NM_005068.3(SIM1):c.2107C>T (p.Arg703Trp)	SIM1 (R703W)	Single nucleotide variant (missense variant)	Monogenic diabetes +1 more	GConflicting classifications of pathogenicity
Select item 728950	NM_005068.3(SIM1):c.2100C>G (p.Gly700=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder +3 more	GBenign/Likely benign
Select item 3043797	NM_005068.3(SIM1):c.2079T>A (p.Thr693=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 2633670	NM_005068.3(SIM1):c.2075C>T (p.Pro692Leu)	SIM1 (P692L)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3051546	NM_005068.3(SIM1):c.2044A>G (p.Ile682Val)	SIM1 (I682V)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 904717	NM_005068.3(SIM1):c.2039C>T (p.Ser680Leu)	SIM1 (S680L)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +1 more	GUncertain significance
Select item 254102	NM_005068.3(SIM1):c.1994G>A (p.Arg665His)	SIM1 (R665H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 733656	NM_005068.3(SIM1):c.1989G>A (p.Ser663=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder +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 disorder	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 549515	NM_005068.3(SIM1):c.1894C>T (p.His632Tyr)	SIM1 (H632Y)	Single nucleotide variant (missense variant)	SIM1-related disorder +1 more	GUncertain significance
Select item 904719	NM_005068.3(SIM1):c.1865C>T (p.Ser622Phe)	SIM1 (S622F)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +1 more	GUncertain significance
Select item 756451	NM_005068.3(SIM1):c.1864T>C (p.Ser622Pro)	SIM1 (S622P)	Single nucleotide variant (missense variant)	SIM1-related disorder +2 more	GLikely benign
Select item 1972562	NM_005068.3(SIM1):c.1861G>A (p.Gly621Ser)	SIM1 (G621S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2632035	NM_005068.3(SIM1):c.1843A>C (p.Thr615Pro)	SIM1 (T615P)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 796934	NM_005068.3(SIM1):c.1782C>T (p.Ser594=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3055150	NM_005068.3(SIM1):c.1744T>C (p.Leu582=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 3046262	NM_005068.3(SIM1):c.1741A>G (p.Arg581Gly)	SIM1 (R581G)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3049171	NM_005068.3(SIM1):c.1716G>A (p.Gln572=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 917416	NM_005068.3(SIM1):c.1649G>A (p.Arg550His)	SIM1 (R550H)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
Select item 3043938	NM_005068.3(SIM1):c.1623G>A (p.Ser541=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 2599493	NM_005068.3(SIM1):c.1567C>T (p.His523Tyr)	SIM1, SIM1-AS1 (H523Y)	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder +1 more	GUncertain significance
Select item 2634190	NM_005068.3(SIM1):c.1526A>G (p.Tyr509Cys)	SIM1, SIM1-AS1 (Y509C)	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GUncertain significance
Select item 3058253	NM_005068.3(SIM1):c.1492C>T (p.Leu498=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GLikely benign
Select item 905504	NM_005068.3(SIM1):c.1452C>G (p.Ala484=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency +2 more	GConflicting classifications of pathogenicity
Select item 2636298	NM_005068.3(SIM1):c.1450G>T (p.Ala484Ser)	SIM1, SIM1-AS1 (A484S)	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GUncertain significance
Select item 2377224	NM_005068.3(SIM1):c.1445C>G (p.Pro482Arg)	SIM1, SIM1-AS1 (P482R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3058018	NM_005068.3(SIM1):c.1422A>T (p.Ala474=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GLikely benign
Select item 2266846	NM_005068.3(SIM1):c.1391C>T (p.Thr464Ile)	SIM1, SIM1-AS1 (T464I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 3043096	NM_005068.3(SIM1):c.1351C>T (p.Leu451Phe)	SIM1, SIM1-AS1 (L451F)	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GLikely benign
Select item 3032297	NM_005068.3(SIM1):c.1312C>G (p.Gln438Glu)	SIM1, SIM1-AS1 (Q438E)	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GUncertain significance
Select item 3031473	NM_005068.3(SIM1):c.1272T>C (p.Asp424=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GLikely benign
Select item 3049201	NM_005068.3(SIM1):c.1242G>T (p.Thr414=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GLikely benign
Select item 3039955	NM_005068.3(SIM1):c.1188A>G (p.Glu396=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GLikely benign
Select item 2636696	NM_005068.3(SIM1):c.1178T>G (p.Phe393Cys)	SIM1, SIM1-AS1 (F393C)	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related disorder	GUncertain significance
Select item 745930	NM_005068.3(SIM1):c.1167+9A>C	SIM1, SIM1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 2635999	NM_005068.3(SIM1):c.1120C>T (p.Arg374Trp)	SIM1, SIM1-AS1 (R374W)	Single nucleotide variant (missense variant)	SIM1-related disorder	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 disorder +2 more	GBenign
Select item 3030645	NM_005068.3(SIM1):c.1089C>T (p.Thr363=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 3030290	NM_005068.3(SIM1):c.1060T>A (p.Phe354Ile)	SIM1, SIM1-AS1 (F354I)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 906017	NM_005068.3(SIM1):c.1054C>T (p.Pro352Ser)	SIM1, SIM1-AS1 (P352S)	Single nucleotide variant (missense variant)	Obesity due to SIM1 deficiency +1 more	GUncertain significance
Select item 2636892	NM_005068.3(SIM1):c.860A>G (p.Lys287Arg)	SIM1 (K287R)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 354684	NM_005068.3(SIM1):c.804T>C (p.His268=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 354685	NM_005068.3(SIM1):c.743+10C>G	SIM1	Single nucleotide variant (intron variant)	SIM1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 3032582	NM_005068.3(SIM1):c.735G>A (p.Leu245=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 907035	NM_005068.3(SIM1):c.628C>T (p.Leu210=)	SIM1	Single nucleotide variant (synonymous variant)	Obesity due to SIM1 deficiency +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 disorder +2 more	GConflicting classifications of pathogenicity
Select item 1391986	NM_005068.3(SIM1):c.596C>G (p.Ser199Cys)	SIM1 (S199C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2634060	NM_005068.3(SIM1):c.539A>G (p.Tyr180Cys)	SIM1 (Y180C)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3047041	NM_005068.3(SIM1):c.474C>A (p.Arg158=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 2632842	NM_005068.3(SIM1):c.454C>G (p.Gln152Glu)	SIM1 (Q152E)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3040180	NM_005068.3(SIM1):c.452T>G (p.Val151Gly)	SIM1 (V151G)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3028973	NM_005068.3(SIM1):c.435C>G (p.Pro145=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 748509	NM_005068.3(SIM1):c.423C>T (p.Thr141=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3029403	NM_005068.3(SIM1):c.398A>G (p.His133Arg)	SIM1 (H133R)	Single nucleotide variant (missense variant)	SIM1-related disorder	GLikely benign
Select item 1335638	NM_005068.3(SIM1):c.390G>A (p.Pro130=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 729151	NM_005068.3(SIM1):c.383T>C (p.Ile128Thr)	SIM1 (I128T)	Single nucleotide variant (missense variant)	SIM1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 1336022	NM_005068.3(SIM1):c.282G>A (p.Val94=)	SIM1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
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 3031570	NM_005068.3(SIM1):c.243C>A (p.Gly81=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 1019756	NM_005068.3(SIM1):c.214C>T (p.Pro72Ser)	SIM1 (P72S)	Single nucleotide variant (missense variant)	SIM1-related disorder +1 more	GUncertain significance
Select item 3042822	NM_005068.3(SIM1):c.141C>T (p.Thr47=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 2636198	NM_005068.3(SIM1):c.88C>G (p.Pro30Ala)	SIM1 (P30A)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3047010	NM_005068.3(SIM1):c.45G>T (p.Lys15Asn)	SIM1 (K15N)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 3055105	NM_005068.3(SIM1):c.-3A>G	SIM1	Single nucleotide variant (5 prime UTR variant)	SIM1-related disorder	GLikely benign

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Items: 76