SIM1-AS1[gene] - ClinVar

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Items: 68

	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 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 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 1905406	NM_005068.3(SIM1):c.1565T>G (p.Ile522Ser)	SIM1, SIM1-AS1 (I522S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 condition	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 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 3058253	NM_005068.3(SIM1):c.1492C>T (p.Leu498=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related condition	GLikely benign
Select item 451801	NM_005068.3(SIM1):c.1484C>A (p.Ala495Asp)	SIM1, SIM1-AS1 (A495D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 condition	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 1303052	NM_005068.3(SIM1):c.1442C>A (p.Thr481Lys)	SIM1, SIM1-AS1 (T481K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987866	NM_005068.3(SIM1):c.1438G>T (p.Gly480Ter)	SIM1, SIM1-AS1 (G480*)	Single nucleotide variant (nonsense)	SIM1-Related Disorders	GLikely pathogenic
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 3058018	NM_005068.3(SIM1):c.1422A>T (p.Ala474=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related condition	GLikely benign
Select item 1878896	NM_005068.3(SIM1):c.1412_1413delinsTG (p.Arg471Leu)	SIM1, SIM1-AS1 (R471L)	Indel (missense variant)	not provided	GUncertain significance
Select item 1188137	NM_005068.3(SIM1):c.1412G>C (p.Arg471Pro)	SIM1, SIM1-AS1 (R471P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 725739	NM_005068.3(SIM1):c.1398C>T (p.Ala466=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 condition	GLikely benign
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 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 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 condition	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 1693344	NM_005068.3(SIM1):c.1303G>T (p.Ala435Ser)	SIM1, SIM1-AS1 (A435S)	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 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 373292	NM_005068.3(SIM1):c.1298C>A (p.Ser433Ter)	SIM1, SIM1-AS1 (S433*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 1336455	NM_005068.3(SIM1):c.1281C>T (p.Gly427=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1336456	NM_005068.3(SIM1):c.1278T>G (p.Pro426=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	not specified	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 condition	GLikely benign
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 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 3049201	NM_005068.3(SIM1):c.1242G>T (p.Thr414=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related condition	GLikely benign
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 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 1801104	NM_005068.3(SIM1):c.1218G>C (p.Trp406Cys)	SIM1, SIM1-AS1 (W406C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3039955	NM_005068.3(SIM1):c.1188A>G (p.Glu396=)	SIM1, SIM1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SIM1-related condition	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 condition	GUncertain significance
Select item 1273936	NM_005068.3(SIM1):c.1167+174T>A	SIM1, SIM1-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 745930	NM_005068.3(SIM1):c.1167+9A>C	SIM1, SIM1-AS1	Single nucleotide variant (intron variant)	SIM1-related condition +1 more	GLikely benign
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 781633	NM_005068.3(SIM1):c.1146C>A (p.Ser382=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 2635999	NM_005068.3(SIM1):c.1120C>T (p.Arg374Trp)	SIM1, SIM1-AS1 (R374W)	Single nucleotide variant (missense variant)	SIM1-related condition	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 3030645	NM_005068.3(SIM1):c.1089C>T (p.Thr363=)	SIM1, SIM1-AS1	Single nucleotide variant (synonymous variant)	SIM1-related condition	GLikely benign
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 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 3030290	NM_005068.3(SIM1):c.1060T>A (p.Phe354Ile)	SIM1, SIM1-AS1 (F354I)	Single nucleotide variant (missense variant)	SIM1-related condition	GUncertain significance
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 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 756125	NM_005068.3(SIM1):c.999-8C>T	SIM1-AS1, SIM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 146509	GRCh38/hg38 6q16.3(chr6:100435760-100463636)x3	LOC110121301, SIM1 +1 more	Copy number gain	See cases	GUncertain significance

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Items: 68