EFNA4[gene] - ClinVar

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Items: 47

	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 2336714	NM_005227.3(EFNA4):c.105T>A (p.Ser35Arg)	ADAM15-EFNA4, DCST1-AS1 +2 more (S35R)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2979191	NM_005227.3(EFNA4):c.108C>A (p.Asn36Lys)	ADAM15-EFNA4, DCST1-AS1 +2 more (N36K)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 1916633	NM_005227.3(EFNA4):c.113+18G>A	ADAM15-EFNA4, DCST1-AS1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1596612	NM_005227.3(EFNA4):c.113+19G>A	ADAM15-EFNA4, DCST1-AS1 +2 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2281424	NM_005227.3(EFNA4):c.133G>C (p.Val45Leu)	ADAM15-EFNA4, EFNA4 +1 more (V45L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1554935	NM_005227.3(EFNA4):c.178C>T (p.His60Tyr)	ADAM15-EFNA4, EFNA4 +1 more (H60Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3274697	NM_005227.3(EFNA4):c.185A>G (p.Glu62Gly)	ADAM15-EFNA4, EFNA4 +1 more (E62G)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2697653	NM_005227.3(EFNA4):c.216G>A (p.Thr72=)	ADAM15-EFNA4, EFNA4 +1 more	Single nucleotide variant (non-coding transcript variant +3 more)	not provided	GLikely benign
Select item 2519275	NM_005227.3(EFNA4):c.229A>G (p.Met77Val)	ADAM15-EFNA4, EFNA4 +1 more (M77V +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 2074140	NM_005227.3(EFNA4):c.275G>A (p.Arg92Gln)	ADAM15-EFNA4, EFNA4 +1 more (R92Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2530768	NM_005227.3(EFNA4):c.280T>G (p.Tyr94Asp)	ADAM15-EFNA4, EFNA4 +1 more (Y18D +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3020185	NM_005227.3(EFNA4):c.297C>T (p.Cys99=)	ADAM15-EFNA4, EFNA4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1957806	NM_005227.3(EFNA4):c.325T>C (p.Ser109Pro)	ADAM15-EFNA4, EFNA4 +1 more (S109P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095429	NM_005227.3(EFNA4):c.347C>T (p.Thr116Ile)	EFNA4, ADAM15-EFNA4 +1 more (T116I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2061796	NM_005227.3(EFNA4):c.349C>A (p.Pro117Thr)	ADAM15-EFNA4, EFNA4 +1 more (P117T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2703624	NM_005227.3(EFNA4):c.360C>T (p.Leu120=)	ADAM15-EFNA4, EFNA4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 710307	NM_005227.3(EFNA4):c.372C>T (p.Phe124=)	ADAM15-EFNA4, EFNA4 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2463192	NM_005227.3(EFNA4):c.386C>G (p.Thr129Ser)	ADAM15-EFNA4, EFNA4 +1 more (T129S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2968266	NM_005227.3(EFNA4):c.400+14G>A	ADAM15-EFNA4, EFNA4 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2071464	NM_005227.3(EFNA4):c.402G>A (p.Ser134=)	ADAM15-EFNA4, EFNA4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1362628	NM_005227.3(EFNA4):c.425G>T (p.Gly142Val)	ADAM15-EFNA4, EFNA4 +1 more (G142V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3017647	NM_005227.3(EFNA4):c.429G>C (p.Gln143His)	ADAM15-EFNA4, EFNA4 +1 more (Q143H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1900038	NM_005227.3(EFNA4):c.471G>T (p.Lys157Asn)	ADAM15-EFNA4, EFNA4 +1 more (K157N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2122848	NM_005227.3(EFNA4):c.472T>A (p.Ser158Thr)	ADAM15-EFNA4, EFNA4 +1 more (S158T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1990179	NM_005227.3(EFNA4):c.500C>T (p.Pro167Leu)	ADAM15-EFNA4, EFNA4 +1 more (P167L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1945950	NM_005227.3(EFNA4):c.535dup (p.Asp179fs)	ADAM15-EFNA4, EFNA4 +1 more (D179fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 3022966	NM_005227.3(EFNA4):c.590T>G (p.Leu197Arg)	ADAM15-EFNA4, EFNA4 +1 more (L197R)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 713545	NM_005227.3(EFNA4):c.*24C>G	ADAM15-EFNA4, EFNA4 +1 more (P162A)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2321748	NM_005227.3(EFNA4):c.*77G>C	ADAM15-EFNA4, EFNA4 +1 more (A97P +1 more)	Single nucleotide variant (non-coding transcript variant +4 more)	not specified	GUncertain significance
Select item 2519043	NM_005227.3(EFNA4):c.*105G>A	ADAM15-EFNA4, EFNA4 +1 more (R106Q +2 more)	Single nucleotide variant (non-coding transcript variant +3 more)	not specified	GUncertain significance
Select item 3274698	NM_005227.3(EFNA4):c.*150C>T	ADAM15-EFNA4, EFNA4 +1 more (T197I +1 more)	Single nucleotide variant (non-coding transcript variant +3 more)	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	SELENBP1, SEMA4A +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: 47