"GeneDx"[submitter] AND "NXF5"[gene] - ClinVar

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

Search results

Items: 35

	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 57973	GRCh38/hg38 Xq22.1-22.3(chrX:101407698-106274188)x1	ARMCX1, ARMCX2 +90 more	Copy number loss	See cases	GPathogenic
Select item 58664	GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3	ARMCX2, ARMCX3 +108 more	Copy number gain	See cases	GPathogenic
Select item 1240517	NC_000023.11:g.101832524A>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1265481	NC_000023.11:g.101832525T>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 711146	NC_000023.11:g.101837514G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1293800	NC_000023.11:g.101838150dup	NXF5	Duplication	not provided	GBenign
Select item 1289138	NR_028089.1(NXF5):n.1103G>A	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 1271801	NC_000023.11:g.101838738G>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1268507	NC_000023.11:g.101838982C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 769490	NR_028089.1(NXF5):n.1047T>C	NXF5	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign/Likely benign
Select item 1250533	NC_000023.11:g.101840697T>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1243342	NC_000023.11:g.101840923G>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1238272	NC_000023.11:g.101841247G>A	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1289579	NC_000023.11:g.101842243TCTT[4]	NXF5	Microsatellite	not provided	GBenign
Select item 1238705	NC_000023.11:g.101842263_101842264insTTT	NXF5	Insertion	not provided	GBenign
Select item 1230966	NC_000023.11:g.101842263C>T	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1288379	NC_000023.11:g.101842664G>C	NXF5	Single nucleotide variant	not provided	GBenign
Select item 1229320	NC_000023.11:g.101842918T>C	NXF5	Single nucleotide 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 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: 35