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

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Items: 34

	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 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 60423	GRCh38/hg38 Xq28(chrX:154791149-155996431)x3	BRCC3, CLIC2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 60424	GRCh38/hg38 Xq28(chrX:155007151-155491717)x3	BRCC3, CLIC2 +27 more	Copy number gain	See cases	GUncertain significance
Select item 145940	GRCh38/hg38 Xq28(chrX:155348480-156016920)x3	F8A2, F8A3 +16 more	Copy number gain	See cases	GLikely benign
Select item 145273	GRCh38/hg38 Xq28(chrX:155442674-155492709)x4	F8A3, H2AB3 +4 more	Copy number gain	See cases	GBenign
Select item 145272	GRCh38/hg38 Xq28(chrX:155442674-155492709)x2	F8A3, H2AB3 +4 more	Copy number gain	See cases	GBenign
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 145132	GRCh38/hg38 Xq28(chrX:155492709-155547057)x3	TMLHE, TMLHE-AS1	Copy number gain	See cases	GBenign
Select item 450888	NM_018196.4(TMLHE):c.794C>T (p.Thr265Ile)	TMLHE (T265I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 151843	GRCh38/hg38 Xq28(chrX:155509742-155547057)x3	TMLHE	Copy number gain	See cases	GBenign
Select item 507632	NM_018196.4(TMLHE):c.704C>A (p.Thr235Asn)	TMLHE (T235N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 372796	NM_018196.4(TMLHE):c.359-2A>G	TMLHE	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 225228	NM_018196.4(TMLHE):c.229C>T (p.Arg77Ter)	TMLHE (R77*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 280314	NM_018196.4(TMLHE):c.5G>A (p.Trp2Ter)	TMLHE (W2*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 151800	GRCh38/hg38 Xq28(chrX:155590324-155718284)x3	LOC130068898, SPRY3 +1 more	Copy number gain	See cases	GLikely benign
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 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 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

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Items: 34