"GeneDx"[submitter] AND "TUSC3"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59735	GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3	ADAM28, ADAM7 +979 more	Copy number gain	See cases	GPathogenic
Select item 152909	GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3	LOC129999850, LOC129999851 +1038 more	Copy number gain	See cases	GPathogenic
Select item 59766	GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3	TNFRSF10A, TNFRSF10A-DT +920 more	Copy number gain	See cases	GPathogenic
Select item 59769	GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3	ADAM18, ADAM2 +898 more	Copy number gain	See cases	GPathogenic
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 362306	NM_006765.4(TUSC3):c.-87C>T	TUSC3	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 547986	NM_006765.4(TUSC3):c.38C>T (p.Ala13Val)	TUSC3 (A13V)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation +3 more	GUncertain significance
Select item 504108	NM_006765.4(TUSC3):c.90GCT[5] (p.Leu34dup)	TUSC3	Microsatellite (inframe_insertion)	not provided	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 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 130692	NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)	TUSC3 (I65V)	Single nucleotide variant (missense variant)	TUSC3-related condition +5 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 2428857	NM_006765.4(TUSC3):c.244C>T (p.Arg82Ter)	TUSC3 (R26* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 95430	NM_006765.4(TUSC3):c.309-6T>C	TUSC3	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 1262876	NM_006765.4(TUSC3):c.426+108G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1703931	NM_006765.4(TUSC3):c.426+171AC[12]	TUSC3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1241702	NM_006765.4(TUSC3):c.426+171AC[15]	TUSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1231886	NM_006765.4(TUSC3):c.426+171AC[17]	TUSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1230194	NM_006765.4(TUSC3):c.426+171AC[14]	TUSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1226684	NM_006765.4(TUSC3):c.426+171AC[16]	TUSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1245413	NM_006765.4(TUSC3):c.426+196C>G	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260201	NM_006765.4(TUSC3):c.427-243C>T	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1706863	NM_006765.4(TUSC3):c.568-124C>T	TUSC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1291061	NM_006765.4(TUSC3):c.568-84T>G	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229211	NM_006765.4(TUSC3):c.708+198_708+199insTAAA	TUSC3	Insertion (intron variant)	not provided	GBenign
Select item 1283402	NM_006765.4(TUSC3):c.709-226T>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 496883	NM_006765.4(TUSC3):c.798+36T>G	TUSC3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1195480	NM_006765.4(TUSC3):c.798+55G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1264189	NM_006765.4(TUSC3):c.798+162AC[5]	TUSC3	Microsatellite (intron variant)	not provided	GBenign
Select item 1276679	NM_006765.4(TUSC3):c.799-194G>C	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233570	NM_006765.4(TUSC3):c.862+186C>T	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262132	NM_006765.4(TUSC3):c.862+291G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262674	NM_006765.4(TUSC3):c.863-260G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 95431	NM_006765.4(TUSC3):c.912G>A (p.Ser304=)	TUSC3	Single nucleotide variant (synonymous variant)	TUSC3-related condition +5 more	GBenign/Likely benign
Select item 1187727	NM_006765.4(TUSC3):c.937+41C>G	TUSC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228094	NM_006765.4(TUSC3):c.937+160A>T	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449114	NM_006765.4(TUSC3):c.1028G>C (p.Ser343Thr)	TUSC3 (S343T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1292464	NM_006765.4(TUSC3):c.1028+68A>G	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264213	NM_006765.4(TUSC3):c.1028+208G>A	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265492	NM_006765.4(TUSC3):c.1029-211C>T	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233458	NM_006765.4(TUSC3):c.1029-120_1029-119del	TUSC3	Deletion (intron variant)	not provided	GBenign
Select item 1703334	NM_006765.4(TUSC3):c.*46+1G>A	TUSC3	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely pathogenic
Select item 1282906	NM_006765.4(TUSC3):c.*47-294C>G	TUSC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253392	GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3	ADAM28, ADAM7 +82 more	Copy number gain	See cases	GPathogenic

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Items: 49