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

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

Search results

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58587	GRCh38/hg38 Xp22.31-22.2(chrX:6837101-13719231)x3	AMELX, ANOS1 +152 more	Copy number gain	See cases	GPathogenic
Select item 58589	GRCh38/hg38 Xp22.31-22.2(chrX:9038047-16646589)x2	ACE2, ACE2-DT +168 more	Copy number gain	See cases	GPathogenic
Select item 58591	GRCh38/hg38 Xp22.2(chrX:11104475-11121622)x3	HCCS, HCCS-DT +1 more	Copy number gain	See cases	GPathogenic
Select item 151873	GRCh38/hg38 Xp22.2(chrX:11108228-11121175)x3	HCCS, HCCS-DT +1 more	Copy number gain	See cases	GLikely pathogenic
Select item 1185924	NM_005333.5(HCCS):c.101-308C>T	HCCS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 129215	NM_005333.5(HCCS):c.215C>T (p.Ala72Val)	HCCS (A72V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1222443	NM_005333.5(HCCS):c.253-299G>A	HCCS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234098	NM_005333.5(HCCS):c.402-331A>G	HCCS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1198842	NM_005333.5(HCCS):c.*265T>C	HCCS	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1183148	NM_005333.5(HCCS):c.*287G>A	HCCS	Single nucleotide variant (3 prime UTR variant)	not provided	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 253615	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	ACE2, ACOT9 +316 more	Copy number gain	See cases	GPathogenic
Select item 253612	GRCh37/hg19 Xp22.33-22.2(chrX:71267-12032064)x1	ARSF, XG +28 more	Copy number loss	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 253571	GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	ACE2, ACOT9 +316 more	Copy number loss	See cases	GPathogenic
Select item 253523	GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	CTPS2, FAM9C +106 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 253489	GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	DCAF8L2, TBL1X +126 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: 27