"GeneDx"[submitter] AND "TMEM132E"[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151580	GRCh38/hg38 17q12(chr17:33671106-34595887)x3	ASIC2, CCL1 +26 more	Copy number gain	See cases	GLikely benign
Select item 1222603	NM_001304438.2(TMEM132E):c.-234G>A	TMEM132E	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1264289	NM_001304438.2(TMEM132E):c.-60C>T	TMEM132E	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 1235963	NM_001304438.2(TMEM132E):c.-32T>C	TMEM132E	Single nucleotide variant (5 prime UTR variant)	Hearing loss, autosomal recessive 99 +1 more	GBenign
Select item 1280636	NM_001304438.2(TMEM132E):c.67+48T>C	TMEM132E	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1270337	NM_001304438.2(TMEM132E):c.67+55G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258412	NM_001304438.2(TMEM132E):c.68-142G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277963	NM_001304438.2(TMEM132E):c.180G>A (p.Glu60=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1282081	NM_001304438.2(TMEM132E):c.999-119G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1271744	NM_001304438.2(TMEM132E):c.1221G>C (p.Arg407=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1253023	NM_001304438.2(TMEM132E):c.1338+63G>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249814	NM_001304438.2(TMEM132E):c.1339-86dup	TMEM132E	Duplication (intron variant)	not provided	GBenign
Select item 1272483	NM_001304438.2(TMEM132E):c.1339-72T>C	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 805606	NM_001304438.2(TMEM132E):c.1426G>A (p.Val476Ile)	TMEM132E (V476I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1225981	NM_001304438.2(TMEM132E):c.1689-179A>T	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242111	NM_001304438.2(TMEM132E):c.1689-67C>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 805607	NM_001304438.2(TMEM132E):c.1875C>T (p.Thr625=)	TMEM132E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1232047	NM_001304438.2(TMEM132E):c.1978-266C>A	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278821	NM_001304438.2(TMEM132E):c.2169+183G>C	TMEM132E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277212	NM_001304438.2(TMEM132E):c.*35dup	TMEM132E	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1181042	NM_001304438.2(TMEM132E):c.*35del	TMEM132E	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1297851	NM_001304438.2(TMEM132E):c.*34C>A	TMEM132E	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1283814	NM_001304438.2(TMEM132E):c.35_36dup	TMEM132E	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1239555	NM_001304438.2(TMEM132E):c.34_35insA	TMEM132E	Insertion (3 prime UTR variant)	not provided	GBenign

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: 24