"PreventionGenetics, part of Exact Sciences"[submitter] AND "SIM1-AS1" - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Inborn genetic diseases +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)	SIM1-related disorder +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)	not provided +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

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Items: 20