"GeneDx"[submitter] AND "TENM1"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58661	GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	LOC126863293, LOC126863294 +478 more	Copy number gain	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 145170	GRCh38/hg38 Xq25(chrX:123859097-128717147)x3	ACTRT1, DCAF12L1 +19 more	Copy number gain	See cases	GPathogenic
Select item 1251331	NM_001163278.2(TENM1):c.6076+299G>T	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277528	NM_001163278.2(TENM1):c.5688+219A>T	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260869	NM_001163278.2(TENM1):c.5392-135A>G	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273083	NM_001163278.2(TENM1):c.5392-290G>A	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275558	NM_001163278.2(TENM1):c.5007C>A (p.Thr1669=)	LOC126863316, TENM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1283375	NM_001163278.2(TENM1):c.4982+176A>G	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245199	NM_001163278.2(TENM1):c.4497A>G (p.Ala1499=)	TENM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1266747	NM_001163278.2(TENM1):c.4472-55T>C	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278800	NM_001163278.2(TENM1):c.4472-286T>C	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178769	NM_001163278.2(TENM1):c.4105-134G>A	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245776	NM_001163278.2(TENM1):c.4104+77G>T	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284189	NM_001163278.2(TENM1):c.3949+21TA[11]	TENM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1235826	NM_001163278.2(TENM1):c.3949+21TA[10]	TENM1	Microsatellite (intron variant)	not provided	GBenign
Select item 1288988	NM_001163278.2(TENM1):c.3695+76C>T	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227241	NM_001163278.2(TENM1):c.3302-195C>A	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282859	NM_001163278.2(TENM1):c.3034-10_3034-8del	TENM1	Deletion (intron variant)	not provided	GBenign
Select item 1233420	NM_001163278.2(TENM1):c.3034-9_3034-8del	TENM1	Deletion (intron variant)	not provided	GBenign
Select item 1275033	NM_001163278.2(TENM1):c.2772-249del	TENM1	Deletion (intron variant)	not provided	GBenign
Select item 1286649	NM_001163278.2(TENM1):c.2652-331G>A	TENM1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 39