"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "EFNA4"[ - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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=)	EFNA4, EFNA4-EFNA3 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 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	CKS1B, PRCC +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	ARL8A, CNIH4 +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance

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Items: 26