TUSC3[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 157099	NM_006765.3(TUSC3):c.-2796_138+12173del	TUSC3	Deletion	Normal pregnancy	Gnot provided
Select item 908153	NM_006765.3(TUSC3):c.-358A>G	TUSC3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362292	NM_006765.3(TUSC3):c.-304G>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362293	NM_006765.3(TUSC3):c.-303C>G	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362294	NM_006765.3(TUSC3):c.-289A>G	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362295	NM_006765.3(TUSC3):c.-273G>A	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GLikely benign
Select item 910111	NM_006765.3(TUSC3):c.-254C>A	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362296	NM_006765.3(TUSC3):c.-206C>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362297	NM_006765.3(TUSC3):c.-197_-195TCT[1]	TUSC3	Microsatellite (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362298	NM_006765.3(TUSC3):c.-191C>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 910112	NM_006765.3(TUSC3):c.-190C>T	TUSC3	Single nucleotide variant (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362299	NM_006765.3(TUSC3):c.-175_-174CT[1]	TUSC3	Microsatellite (5 prime UTR variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 362300	NM_006765.4(TUSC3):c.-167G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362301	NM_006765.4(TUSC3):c.-159C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362302	NM_006765.4(TUSC3):c.-150C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362303	NM_006765.4(TUSC3):c.-130C>G	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362304	NM_006765.4(TUSC3):c.-120C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 910997	NM_006765.4(TUSC3):c.-111C>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362305	NM_006765.4(TUSC3):c.-108G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 910998	NM_006765.4(TUSC3):c.-91G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GLikely benign
Select item 910999	NM_006765.4(TUSC3):c.-88T>G	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 362306	NM_006765.4(TUSC3):c.-87C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation +1 more	GLikely benign
Select item 911000	NM_006765.4(TUSC3):c.-82A>G	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 911001	NM_006765.4(TUSC3):c.-51G>A	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362307	NM_006765.4(TUSC3):c.-48C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362308	NM_006765.4(TUSC3):c.-46G>C	TUSC3	Single nucleotide variant (5 prime UTR variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 437170	NM_006765.4(TUSC3):c.-4C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
Select item 362309	NM_006765.4(TUSC3):c.3G>A (p.Met1Ile)	TUSC3 (M1I)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation	GUncertain significance
Select item 3042339	NM_006765.4(TUSC3):c.15C>A (p.Gly5=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	TUSC3-related disorder	GLikely benign
Select item 912229	NM_006765.4(TUSC3):c.17C>T (p.Ala6Val)	TUSC3 (A6V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 1325580	NM_006765.4(TUSC3):c.19C>T (p.Pro7Ser)	TUSC3 (P7S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 912230	NM_006765.4(TUSC3):c.23C>T (p.Ser8Leu)	TUSC3 (S8L)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +1 more	GUncertain significance
Select item 912231	NM_006765.4(TUSC3):c.25C>G (p.Arg9Gly)	TUSC3 (R9G)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +2 more	GUncertain significance
Select item 2555766	NM_006765.4(TUSC3):c.26G>T (p.Arg9Leu)	TUSC3 (R9L)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 970406	NM_006765.4(TUSC3):c.31A>G (p.Arg11Gly)	TUSC3 (R11G)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 547986	NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)	TUSC3 (A13V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +3 more	GUncertain significance
Select item 1741031	NM_006765.4(TUSC3):c.44G>A (p.Arg15Gln)	TUSC3 (R15Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7 +1 more	GUncertain significance
Select item 501273	NM_006765.4(TUSC3):c.44G>C (p.Arg15Pro)	TUSC3 (R15P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1059475	NM_006765.4(TUSC3):c.53G>A (p.Arg18Gln)	TUSC3 (R18Q)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1710460	NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)	TUSC3 (Y19fs)	Indel (frameshift variant)	Intellectual disability, autosomal recessive 7	GLikely pathogenic
Select item 912232	NM_006765.4(TUSC3):c.62C>G (p.Pro21Arg)	TUSC3 (P21R)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 848284	NM_006765.4(TUSC3):c.67G>A (p.Gly23Arg)	TUSC3 (G23R)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1980008	NM_006765.4(TUSC3):c.85C>T (p.Leu29Phe)	TUSC3 (L29F)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 588647	NM_006765.4(TUSC3):c.87C>T (p.Leu29=)	TUSC3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 504108	NM_006765.4(TUSC3):c.90GCT[5] (p.Leu34dup)	TUSC3	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2729886	NM_006765.4(TUSC3):c.93G>C (p.Leu31=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2885589	NM_006765.4(TUSC3):c.94C>T (p.Leu32=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 737155	NM_006765.4(TUSC3):c.105C>T (p.Cys35=)	TUSC3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2503415	NM_006765.4(TUSC3):c.119dup (p.Gly41fs)	TUSC3 (G41fs)	Duplication (frameshift variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely pathogenic
Select item 3184941	NM_006765.4(TUSC3):c.115G>C (p.Gly39Arg)	TUSC3 (G39R)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2013450	NM_006765.4(TUSC3):c.116G>T (p.Gly39Val)	TUSC3 (G39V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1739240	NM_006765.4(TUSC3):c.116G>C (p.Gly39Ala)	TUSC3 (G39A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1292295	NM_006765.4(TUSC3):c.138+74G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224112	NM_006765.4(TUSC3):c.138+168G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 151994	GRCh38/hg38 8p22(chr8:15545930-15551664)x1	TUSC3	Copy number loss	See cases	GBenign
Select item 145715	GRCh38/hg38 8p22(chr8:15564152-15573816)x1	TUSC3	Copy number loss	See cases	GBenign
Select item 560138	Single allele	TUSC3	Deletion	Intellectual disability, autosomal recessive 7	GPathogenic
Select item 1251183	NM_006765.4(TUSC3):c.139-261dup	TUSC3	Duplication (intron variant)	not provided	GBenign
Select item 1241945	NM_006765.4(TUSC3):c.139-261T>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234410	NM_006765.4(TUSC3):c.139-214G>C	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95429	NM_006765.4(TUSC3):c.139-17del	TUSC3	Deletion (intron variant)	not provided	GUncertain significance
Select item 1672266	NM_006765.4(TUSC3):c.139-6T>C	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2193464	NM_006765.4(TUSC3):c.142C>A (p.Leu48Ile)	TUSC3 (L28I +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2723317	NM_006765.4(TUSC3):c.159A>C (p.Val53=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2486712	NM_006765.4(TUSC3):c.162G>T (p.Glu54Asp)	TUSC3 (E54D +1 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 30177	NM_006765.4(TUSC3):c.163C>T (p.Gln55Ter)	TUSC3 (Q55*)	Single nucleotide variant (nonsense)	Abnormality of the nervous system	GLikely pathogenic
Select item 1778112	NM_006765.4(TUSC3):c.168G>C (p.Leu56=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 1517661	NM_006765.4(TUSC3):c.187C>T (p.Arg63Cys)	TUSC3 (R63C)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1782049	NM_006765.4(TUSC3):c.188G>C (p.Arg63Pro)	TUSC3 (R43P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 908224	NM_006765.4(TUSC3):c.189C>G (p.Arg63=)	TUSC3	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 130692	NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)	TUSC3 (I65V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 1325320	NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)	TUSC3 (R74*)	Single nucleotide variant (nonsense)	Intellectual disability, autosomal recessive 7 +1 more	GLikely pathogenic
Select item 2690401	NM_006765.4(TUSC3):c.221G>A (p.Arg74Gln)	TUSC3 (R18Q +2 more)	Single nucleotide variant (missense variant +3 more)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 495148	NM_006765.4(TUSC3):c.225del (p.Lys75fs)	TUSC3 (K75fs)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 7	GPathogenic
Select item 1904146	NM_006765.4(TUSC3):c.238C>G (p.Pro80Ala)	TUSC3 (P24A +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2428857	NM_006765.4(TUSC3):c.244C>T (p.Arg82Ter)	TUSC3 (R26* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2078373	NM_006765.4(TUSC3):c.255C>T (p.Ser85=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 1793062	NM_006765.4(TUSC3):c.255C>G (p.Ser85=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	not provided +1 more	GLikely benign
Select item 362310	NM_006765.4(TUSC3):c.259A>G (p.Ile87Val)	TUSC3 (I87V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 587950	NM_006765.4(TUSC3):c.266T>C (p.Met89Thr)	TUSC3 (M89T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3340901	NM_006765.4(TUSC3):c.279dup (p.Gln94fs)	TUSC3 (Q38fs +2 more)	Duplication (frameshift variant +3 more)	not provided	GPathogenic
Select item 1336639	NM_006765.4(TUSC3):c.283C>G (p.Pro95Ala)	TUSC3 (P95A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 284537	NM_006765.4(TUSC3):c.290G>A (p.Arg97Gln)	TUSC3 (R97Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2605933	NM_006765.4(TUSC3):c.304T>C (p.Cys102Arg)	TUSC3 (C102R +2 more)	Single nucleotide variant (missense variant +4 more)	Inborn genetic diseases	GUncertain significance
Select item 1034307	NM_006765.4(TUSC3):c.308+3A>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 2885034	NM_006765.4(TUSC3):c.309-16C>T	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 2746559	NM_006765.4(TUSC3):c.309-15C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GBenign
Select item 1373632	NM_006765.4(TUSC3):c.309-8C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GLikely benign
Select item 95430	NM_006765.4(TUSC3):c.309-6T>C	TUSC3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation +3 more	GBenign
Select item 742063	NM_006765.4(TUSC3):c.309-4T>C	TUSC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 858917	NM_006765.4(TUSC3):c.309-3C>G	TUSC3	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 7	GUncertain significance
Select item 1730047	NM_006765.4(TUSC3):c.330A>G (p.Gln110=)	TUSC3	Single nucleotide variant (synonymous variant +3 more)	Inborn genetic diseases	GLikely benign
Select item 3184942	NM_006765.4(TUSC3):c.338C>T (p.Ala113Val)	TUSC3 (A93V +3 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2571310	NM_006765.4(TUSC3):c.402T>C (p.Asp134=)	TUSC3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 908225	NM_006765.4(TUSC3):c.408G>A (p.Gly136=)	TUSC3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2224970	NM_006765.4(TUSC3):c.414C>A (p.Asp138Glu)	TUSC3 (D118E +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 632519	NM_006765.4(TUSC3):c.414del (p.Asp138fs)	TUSC3 (D138fs)	Deletion (frameshift variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 973756	NM_006765.4(TUSC3):c.420dup (p.Gln141fs)	TUSC3 (Q141fs)	Duplication (frameshift variant)	Intellectual disability, autosomal recessive 7	GPathogenic
Select item 908226	NM_006765.4(TUSC3):c.426+13A>T	TUSC3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GUncertain significance
Select item 362311	NM_006765.4(TUSC3):c.426+15C>T	TUSC3	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation	GUncertain significance

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