"PreventionGenetics, part of Exact Sciences"[submitter] AND "EYA4"[gen - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191658	NM_004100.5(EYA4):c.215A>G (p.Asn72Ser)	EYA4 (N72S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 517654	NM_004100.5(EYA4):c.252T>A (p.Ser84Arg)	EYA4 (S84R)	Single nucleotide variant (missense variant +1 more)	Hearing impairment +5 more	GUncertain significance
Select item 239629	NM_004100.5(EYA4):c.277+9G>A	EYA4	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 178670	NM_004100.5(EYA4):c.580+14_580+16del	EYA4	Microsatellite (intron variant)	Nonsyndromic Hearing Loss, Dominant +4 more	GBenign/Likely benign
Select item 227370	NM_004100.5(EYA4):c.741A>G (p.Pro247=)	EYA4	Single nucleotide variant (synonymous variant)	EYA4-related disorder +3 more	GLikely benign
Select item 410661	NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)	EYA4 (T250N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +5 more	GConflicting classifications of pathogenicity
Select item 44773	NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)	EYA4 (G277S +2 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +3 more	GBenign/Likely benign
Select item 3053111	NM_004100.5(EYA4):c.858A>G (p.Ser286=)	EYA4	Single nucleotide variant (synonymous variant)	EYA4-related disorder	GLikely benign
Select item 163446	NM_004100.5(EYA4):c.866C>T (p.Thr289Met)	EYA4 (T289M +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 191664	NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)	EYA4 (D327N +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +4 more	GConflicting classifications of pathogenicity
Select item 505845	NM_004100.5(EYA4):c.1085C>T (p.Pro362Leu)	EYA4 (P362L +4 more)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 2630897	NM_004100.5(EYA4):c.1241_1248del (p.Phe414fs)	EYA4, LOC126859796 +1 more (F360fs +4 more)	Deletion (non-coding transcript variant +1 more)	EYA4-related disorder	GPathogenic
Select item 2563261	NM_004100.5(EYA4):c.1248T>C (p.Leu416=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GLikely benign
Select item 843527	NM_004100.5(EYA4):c.1282-3C>T	EYA4, TARID	Single nucleotide variant (intron variant)	EYA4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 416272	NM_004100.5(EYA4):c.1329G>A (p.Gly443=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	EYA4-related disorder +3 more	GBenign/Likely benign
Select item 3029802	NM_004100.5(EYA4):c.1411_1412del (p.Val471fs)	EYA4, TARID (V417fs +4 more)	Microsatellite (frameshift variant)	EYA4-related disorder	GLikely pathogenic
Select item 208577	NM_004100.5(EYA4):c.1739-1G>A	EYA4, TARID	Single nucleotide variant (splice acceptor variant +1 more)	Cardiovascular phenotype +3 more	GLikely pathogenic
Select item 2633777	NM_004100.5(EYA4):c.1810G>A (p.Gly604Ser)	EYA4, TARID (G556S +3 more)	Single nucleotide variant (missense variant +1 more)	EYA4-related disorder	GUncertain significance
Select item 2631253	NM_004100.5(EYA4):c.1835A>C (p.Lys612Thr)	EYA4, TARID (K564T +3 more)	Single nucleotide variant (missense variant +1 more)	EYA4-related disorder	GUncertain significance
Select item 36031	NM_004100.5(EYA4):c.1845C>T (p.Asn615=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign

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Items: 20