Related gene-specific medical variations for Gene (Select 125467750) - ClinVar

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

Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2206906	NM_004952.5(EFNA3):c.667C>T (p.Pro223Ser)	EFNA3, EFNA4-EFNA3 (P218S +1 more)	Single nucleotide variant (missense variant)	not specified	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 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 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 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 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 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 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 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 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 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 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 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 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 775143	NM_004952.5(EFNA3):c.399T>G (p.Ser133=)	EFNA3, EFNA4-EFNA3	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 47