"GeneDx"[submitter] AND "TMX3"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 152928	GRCh38/hg38 18q21.33-23(chr18:61613338-80252090)x1	ADNP2, ATP9B +429 more	Copy number loss	See cases	GPathogenic
Select item 60003	GRCh38/hg38 18q21.33-23(chr18:62999696-80209986)x1	ADNP2, ATP9B +373 more	Copy number loss	See cases	GPathogenic
Select item 152557	GRCh38/hg38 18q22.1(chr18:68029227-68865247)x3	CCDC102B, LINC01912 +6 more	Copy number gain	See cases	GLikely benign
Select item 1276356	NM_019022.5(TMX3):c.*172C>G	TMX3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1251413	NM_019022.5(TMX3):c.*43A>G	TMX3	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1250000	NM_019022.5(TMX3):c.1036-282C>A	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262037	NM_019022.5(TMX3):c.1035+91A>C	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283002	NM_019022.5(TMX3):c.906-104G>A	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247350	NM_019022.5(TMX3):c.906-116A>G	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265855	NM_019022.5(TMX3):c.906-225A>G	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1281736	NM_019022.5(TMX3):c.849-46C>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241037	NM_019022.5(TMX3):c.795-71A>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258686	NM_019022.5(TMX3):c.736+179C>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276569	NM_019022.5(TMX3):c.736+146T>C	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178895	NM_019022.5(TMX3):c.638-145_638-142del	TMX3	Deletion (intron variant)	not provided	GBenign
Select item 1274094	NM_019022.5(TMX3):c.637+129C>A	TMX3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1280904	NM_019022.5(TMX3):c.637+48G>A	TMX3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1283097	NM_019022.5(TMX3):c.637+16_637+17del	TMX3	Deletion (nonsense +1 more)	not provided	GBenign
Select item 1222361	NM_019022.5(TMX3):c.571-94T>G	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278882	NM_019022.5(TMX3):c.570+67C>T	TMX3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1281485	NM_019022.5(TMX3):c.493-90C>A	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232408	NM_019022.5(TMX3):c.492+175T>G	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265174	NM_019022.5(TMX3):c.492+40A>C	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231620	NM_019022.5(TMX3):c.392+35T>C	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289903	NM_019022.5(TMX3):c.312-19dup	TMX3	Duplication (intron variant)	not provided	GBenign
Select item 1268595	NM_019022.5(TMX3):c.311+157T>G	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253414	NM_019022.5(TMX3):c.265+218C>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234545	NM_019022.5(TMX3):c.265+186T>C	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280969	NM_019022.5(TMX3):c.265+173G>A	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267052	NM_019022.5(TMX3):c.265+172C>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236311	NM_019022.5(TMX3):c.265+91del	TMX3	Deletion (intron variant)	not provided	GBenign
Select item 1276236	NM_019022.5(TMX3):c.265+87T>C	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277199	NM_019022.5(TMX3):c.265+49T>A	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232544	NM_019022.5(TMX3):c.142-34dup	TMX3	Duplication (intron variant)	not provided	GBenign
Select item 1228762	NM_019022.5(TMX3):c.141+34C>A	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287642	NM_019022.5(TMX3):c.102-65C>G	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276199	NM_019022.5(TMX3):c.101+115dup	TMX3	Duplication (intron variant)	not provided	GBenign
Select item 1229293	NM_019022.5(TMX3):c.46+279C>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261084	NM_019022.5(TMX3):c.46+83G>A	LOC130062690, TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259194	NM_019022.5(TMX3):c.46+63C>T	TMX3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263946	NC_000018.10:g.68714963A>G	CCDC102B, TMX3 (W7R)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1222113	NM_019022.5(TMX3):c.-25G>A	TMX3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1286457	NC_000018.10:g.68715237T>C	CCDC102B, TMX3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1260341	NC_000018.10:g.68715260G>A	CCDC102B, TMX3	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 253620	GRCh37/hg19 18q11.1-23(chr18:18548019-77954165)x3	ABHD3, ACAA2 +200 more	Copy number gain	See cases	GPathogenic
Select item 253575	GRCh37/hg19 18q21.32-23(chr18:58525322-78005236)x3	SOCS6, SERPINB10 +58 more	Copy number gain	See cases	GPathogenic
Select item 253425	GRCh37/hg19 18q21.32-22.2(chr18:58014591-68158862)x1	CDH19, CDH7 +29 more	Copy number loss	See cases	GPathogenic
Select item 253424	GRCh37/hg19 18p11.32-q23(chr18:163323-78005236)x3	TNFRSF11A, TXNL1 +267 more	Copy number gain	See cases	GPathogenic

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Items: 49