Related gene-specific medical variations for Gene (Select 55217) - ClinVar

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

Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024657	GRCh37/hg19 Xq28(chrX:154736559-155130251)x3	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 2690241	NM_018196.4(TMLHE):c.706A>T (p.Lys236Ter)	TMLHE (K236*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2480649	NM_018196.4(TMLHE):c.1178G>A (p.Cys393Tyr)	TMLHE, TMLHE-AS1 (C393Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293621	NM_018196.4(TMLHE):c.1235A>G (p.Asn412Ser)	TMLHE, TMLHE-AS1 (N412S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808573	GRCh37/hg19 Xq28(chrX:154697070-155233731)x0	TMLHE	Copy number loss	not provided	GLikely pathogenic
Select item 1526883	GRCh37/hg19 Xq28(chrX:154762224-154803688)	TMLHE	Copy number loss	not specified	GUncertain significance
Select item 1339785	GRCh37/hg19 Xq28(chrX:154773423-154797292)x0	TMLHE	Copy number loss	not provided	Gnot provided
Select item 1317993	NM_018196.4(TMLHE):c.1195C>T (p.Gln399Ter)	TMLHE, TMLHE-AS1 (Q399*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 979244	GRCh37/hg19 Xq28(chrX:154739499-154789638)x1	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 979242	GRCh37/hg19 Xq28(chrX:154752099-154827787)x0	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 816420	GRCh37/hg19 Xq28(chrX:154752979-154813224)x1	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 816419	GRCh37/hg19 Xq28(chrX:154739600-155000584)x3	TMLHE	Copy number gain	not provided	GLikely benign
Select item 807889	GRCh37/hg19 Xq28(chrX:154774757-154774937)x0	TMLHE	Copy number loss	not provided	GUncertain significance
Select item 688303	GRCh37/hg19 Xq28(chrX:154731276-154919085)x2	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 687496	GRCh37/hg19 Xq28(chrX:154733980-154930047)x2	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 686566	GRCh37/hg19 Xq28(chrX:154697069-154780049)x2	TMLHE	Copy number gain	not provided	GUncertain significance
Select item 545382	NC_000023.11:g.(?_155531678)_(155556173_?)del	TMLHE	Deletion	Schizophrenia	GLikely pathogenic
Select item 545381	NC_000023.11:g.(?_155530103)_(155550495_?)del	TMLHE	Deletion	Schizophrenia	GLikely pathogenic
Select item 394601	GRCh37/hg19 Xq28(chrX:154736503-154842445)x2	TMLHE	Copy number gain	See cases	GBenign
Select item 225230	NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp)	TMLHE, TMLHE-AS1 (E369D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 151843	GRCh38/hg38 Xq28(chrX:155509742-155547057)x3	TMLHE	Copy number gain	See cases	GBenign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 21