ClinVar for Gene (Select 6492) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234513	NM_005068.3(SIM1):c.1162C>T (p.Pro388Ser)	SIM1, SIM1-AS1 (P388S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3162286	NM_005068.3(SIM1):c.296G>A (p.Gly99Glu)	SIM1 (G99E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3162283	NM_005068.3(SIM1):c.1759G>A (p.Ala587Thr)	SIM1 (A587T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3162282	NM_005068.3(SIM1):c.1372G>A (p.Glu458Lys)	SIM1, SIM1-AS1 (E458K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162281	NM_005068.3(SIM1):c.1240A>T (p.Thr414Ser)	SIM1, SIM1-AS1 (T414S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3162280	NM_005068.3(SIM1):c.1000G>A (p.Asp334Asn)	SIM1, SIM1-AS1 (D334N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062939	GRCh37/hg19 6q15-16.3(chr6:91677067-101879124)x3	FAXC, ASCC3 +20 more	Copy number gain	not specified	GUncertain significance
Select item 3062913	GRCh37/hg19 6q16.2-16.3(chr6:100278355-104153505)x3	ASCC3, GRIK2 +2 more	Copy number gain	not specified	GUncertain significance
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 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 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 3055150	NM_005068.3(SIM1):c.1744T>C (p.Leu582=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
Select item 3055105	NM_005068.3(SIM1):c.-3A>G	SIM1	Single nucleotide variant (5 prime UTR 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 3051546	NM_005068.3(SIM1):c.2044A>G (p.Ile682Val)	SIM1 (I682V)	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 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 3049171	NM_005068.3(SIM1):c.1716G>A (p.Gln572=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
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 3047010	NM_005068.3(SIM1):c.45G>T (p.Lys15Asn)	SIM1 (K15N)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
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 3044356	NM_005068.3(SIM1):c.2226T>C (p.Thr742=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
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 3043797	NM_005068.3(SIM1):c.2079T>A (p.Thr693=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely 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 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 3042822	NM_005068.3(SIM1):c.141C>T (p.Thr47=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
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 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 3036784	NM_005068.3(SIM1):c.2172C>T (p.Ser724=)	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 3032582	NM_005068.3(SIM1):c.735G>A (p.Leu245=)	SIM1	Single nucleotide variant (synonymous variant)	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 3031570	NM_005068.3(SIM1):c.243C>A (p.Gly81=)	SIM1	Single nucleotide variant (synonymous variant)	SIM1-related disorder	GLikely benign
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 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 3029403	NM_005068.3(SIM1):c.398A>G (p.His133Arg)	SIM1 (H133R)	Single nucleotide variant (missense variant)	SIM1-related disorder	GLikely benign
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 3023463	NM_005068.3(SIM1):c.2170A>T (p.Ser724Cys)	SIM1 (S724C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3014484	NM_005068.3(SIM1):c.1269C>T (p.Ala423=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	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
Select item 2992643	NM_005068.3(SIM1):c.197A>G (p.His66Arg)	SIM1 (H66R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2979158	NM_005068.3(SIM1):c.1515C>T (p.Ser505=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2974174	NM_005068.3(SIM1):c.176-14C>T	SIM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2970061	NM_005068.3(SIM1):c.348+15C>T	SIM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844233	NM_005068.3(SIM1):c.641del (p.Gly214fs)	SIM1 (G214fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2824947	NM_005068.3(SIM1):c.1086C>A (p.Pro362=)	SIM1-AS1, SIM1	Single nucleotide variant (synonymous variant)	not provided	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 2801602	NM_005068.3(SIM1):c.684C>T (p.His228=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2785315	NM_005068.3(SIM1):c.183C>A (p.Gly61=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2745705	NM_005068.3(SIM1):c.704G>T (p.Arg235Leu)	SIM1 (R235L)	Single nucleotide variant (missense variant)	not provided	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 2685211	GRCh37/hg19 6q15-21(chr6:92468126-109410569)x1	AFG1L, ARMC2 +43 more	Copy number loss	not provided	GPathogenic
Select item 2663718	NM_005068.3(SIM1):c.13T>C (p.Ser5Pro)	SIM1 (S5P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2663342	NM_005068.3(SIM1):c.473G>T (p.Arg158Leu)	SIM1 (R158L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656783	NM_005068.3(SIM1):c.840G>T (p.Ala280=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 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 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 2636198	NM_005068.3(SIM1):c.88C>G (p.Pro30Ala)	SIM1 (P30A)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
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 2634416	NM_005068.3(SIM1):c.2158C>G (p.His720Asp)	SIM1 (H720D)	Single nucleotide variant (missense variant)	SIM1-related disorder	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 2634060	NM_005068.3(SIM1):c.539A>G (p.Tyr180Cys)	SIM1 (Y180C)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
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 2633120	NM_005068.3(SIM1):c.2135C>T (p.Thr712Ile)	SIM1 (T712I)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
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 2632035	NM_005068.3(SIM1):c.1843A>C (p.Thr615Pro)	SIM1 (T615P)	Single nucleotide variant (missense variant)	SIM1-related disorder	GUncertain significance
Select item 2612068	NM_005068.3(SIM1):c.773A>G (p.Gln258Arg)	SIM1 (Q258R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611244	NM_005068.3(SIM1):c.1423G>A (p.Gly475Ser)	SIM1, SIM1-AS1 (G475S)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2595018	NM_005068.3(SIM1):c.607G>T (p.Gly203Cys)	SIM1 (G203C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2584556	NM_005068.3(SIM1):c.-468+6T>A	SIM1	Single nucleotide variant (intron variant)	SIM1-associated metabolic syndrome	GUncertain significance
Select item 2582189	NM_005068.3(SIM1):c.491T>C (p.Met164Thr)	SIM1 (M164T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580107	NM_005068.3(SIM1):c.1302C>A (p.Cys434Ter)	SIM1, SIM1-AS1 (C434*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2550143	NM_005068.3(SIM1):c.1480G>T (p.Ala494Ser)	SIM1, SIM1-AS1 (A494S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2502706	NM_005068.3(SIM1):c.491T>A (p.Met164Lys)	SIM1 (M164K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502227	NM_005068.3(SIM1):c.1514G>C (p.Ser505Thr)	SIM1-AS1, SIM1 (S505T)	Single nucleotide variant (missense variant)	SIM1-related obesity	GUncertain significance
Select item 2497765	NM_005068.3(SIM1):c.800A>T (p.His267Leu)	SIM1 (H267L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2494463	NM_005068.3(SIM1):c.724C>T (p.Leu242Phe)	SIM1 (L242F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473395	NM_005068.3(SIM1):c.306G>A (p.Met102Ile)	SIM1 (M102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 2335905	NM_005068.3(SIM1):c.1445C>T (p.Pro482Leu)	SIM1, SIM1-AS1 (P482L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2292728	NM_005068.3(SIM1):c.2177C>T (p.Thr726Ile)	SIM1 (T726I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2285416	NM_005068.3(SIM1):c.226G>C (p.Val76Leu)	SIM1 (V76L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268520	NM_005068.3(SIM1):c.1295C>T (p.Ala432Val)	SIM1, SIM1-AS1 (A432V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2268385	NM_005068.3(SIM1):c.1300T>G (p.Cys434Gly)	SIM1, SIM1-AS1 (C434G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2250343	NM_005068.3(SIM1):c.1539G>T (p.Met513Ile)	SIM1, SIM1-AS1 (M513I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 2228607	NM_005068.3(SIM1):c.1307A>G (p.Tyr436Cys)	SIM1, SIM1-AS1 (Y436C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228133	NM_005068.3(SIM1):c.1349C>T (p.Ala450Val)	SIM1, SIM1-AS1 (A450V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222836	NM_005068.3(SIM1):c.185A>G (p.Glu62Gly)	SIM1 (E62G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202588	NM_005068.3(SIM1):c.150C>A (p.Leu50=)	SIM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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