3223[HGNC] - ClinVar

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Items: 32

	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 3087571	NM_004952.5(EFNA3):c.53T>A (p.Leu18Gln)	EFNA3, EFNA4-EFNA3 +1 more (L18Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087569	NM_004952.5(EFNA3):c.127C>T (p.His43Tyr)	EFNA3, EFNA4-EFNA3 +1 more (H43Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622724	NM_004952.5(EFNA3):c.133C>T (p.Arg45Trp)	EFNA3, EFNA4-EFNA3 (R40W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536410	NM_004952.5(EFNA3):c.171C>G (p.Asp57Glu)	EFNA3, EFNA4-EFNA3 +1 more (D52E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268066	NM_004952.5(EFNA3):c.205T>G (p.Ser69Ala)	EFNA3, EFNA4-EFNA3 +1 more (S64A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377274	NM_004952.5(EFNA3):c.230C>T (p.Pro77Leu)	EFNA3, EFNA4-EFNA3 +1 more (P72L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300732	NM_004952.5(EFNA3):c.239G>C (p.Gly80Ala)	EFNA3, EFNA4-EFNA3 +1 more (G80A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274696	NM_004952.5(EFNA3):c.259G>A (p.Val87Met)	EFNA3, EFNA4-EFNA3 (V82M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493918	NM_004952.5(EFNA3):c.349C>T (p.His117Tyr)	EFNA3, EFNA4-EFNA3 (H112Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 775143	NM_004952.5(EFNA3):c.399T>G (p.Ser133=)	EFNA3, EFNA4-EFNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2340532	NM_004952.5(EFNA3):c.503C>T (p.Ala168Val)	EFNA3, EFNA4-EFNA3 (A168V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621047	NM_004952.5(EFNA3):c.506C>A (p.Ser169Tyr)	EFNA3, EFNA4-EFNA3 (S164Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547213	NM_004952.5(EFNA3):c.577A>G (p.Asn193Asp)	EFNA3, EFNA4-EFNA3 (N193D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509728	NM_004952.5(EFNA3):c.655C>T (p.Arg219Trp)	EFNA3, EFNA4-EFNA3 (R214W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612357	NM_004952.5(EFNA3):c.656G>A (p.Arg219Gln)	EFNA3, EFNA4-EFNA3 (R219Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206906	NM_004952.5(EFNA3):c.667C>T (p.Pro223Ser)	EFNA4-EFNA3, EFNA3 (P218S +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	ADAM15, FLG2 +228 more	Duplication	Kostmann syndrome +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

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Items: 32