3221[HGNC] - 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 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 60040	GRCh38/hg38 1q21.3-22(chr1:154575689-155292901)x1	LOC129931527, LOC129931528 +91 more	Copy number loss	See cases	GPathogenic
Select item 151444	GRCh38/hg38 1q21.3-22(chr1:155006546-155464263)x3	ADAM15, ADAM15-EFNA4 +67 more	Copy number gain	See cases	GUncertain significance
Select item 2488451	NM_004428.3(EFNA1):c.125A>T (p.Gln42Leu)	EFNA1 (Q42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239664	NM_004428.3(EFNA1):c.137A>G (p.Tyr46Cys)	EFNA1 (Y46C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524713	NM_004428.3(EFNA1):c.145A>G (p.Ile49Val)	EFNA1 (I49V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087563	NM_004428.3(EFNA1):c.283C>T (p.Pro95Ser)	EFNA1 (P95S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316188	NM_004428.3(EFNA1):c.310C>G (p.Leu104Val)	EFNA1 (L104V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274692	NM_004428.3(EFNA1):c.430A>G (p.Lys144Glu)	EFNA1 (K144E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1268289	NM_004428.3(EFNA1):c.476A>T (p.Asp159Val)	EFNA1 (D137V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2408945	NM_004428.3(EFNA1):c.477C>A (p.Asp159Glu)	EFNA1 (D159E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282662	NM_004428.3(EFNA1):c.496C>T (p.Leu166Phe)	EFNA1 (L144F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2404086	NM_004428.3(EFNA1):c.524T>C (p.Val175Ala)	EFNA1 (V153A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3087565	NM_004428.3(EFNA1):c.574T>C (p.Trp192Arg)	EFNA1 (W170R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	YY1AP1, CRCT1 +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 814131	GRCh37/hg19 1q21.3-22(chr1:154898854-155242457)x3	EFNA4, ENTREP3 +23 more	Copy number gain	not provided	GUncertain significance
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 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