"GeneDx"[submitter] AND "EYA4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1221288	NM_004100.5(EYA4):c.-65-283G>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296325	NM_004100.5(EYA4):c.-65-170C>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 534390	NM_004100.5(EYA4):c.5A>G (p.Glu2Gly)	EYA4 (E2G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 1201657	NM_004100.5(EYA4):c.33+37C>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280449	NM_004100.5(EYA4):c.33+266T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276242	NM_004100.5(EYA4):c.33+276A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250672	NM_004100.5(EYA4):c.34-205A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1470641	NM_004100.5(EYA4):c.62T>G (p.Val21Gly)	EYA4 (V21G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1242654	NM_004100.5(EYA4):c.83+119T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212607	NM_004100.5(EYA4):c.83+275T>A	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217156	NM_004100.5(EYA4):c.84-283A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236616	NM_004100.5(EYA4):c.84-236G>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 44769	NM_004100.5(EYA4):c.103C>T (p.Leu35=)	EYA4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 10 +3 more	GBenign/Likely benign
Select item 3373250	NM_004100.5(EYA4):c.106G>A (p.Ala36Thr)	EYA4 (A36T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 44770	NM_004100.5(EYA4):c.111T>C (p.Ser37=)	EYA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1317006	NM_004100.5(EYA4):c.124G>C (p.Val42Leu)	EYA4 (V42L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 264447	NM_004100.5(EYA4):c.131G>A (p.Gly44Asp)	EYA4 (G44D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 579330	NM_004100.5(EYA4):c.152C>T (p.Ser51Phe)	EYA4 (S51F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1318897	NM_004100.5(EYA4):c.155A>C (p.Lys52Thr)	EYA4 (K52T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 355442	NM_004100.5(EYA4):c.182C>T (p.Thr61Ile)	EYA4 (T61I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1193908	NM_004100.5(EYA4):c.208+261A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180891	NM_004100.5(EYA4):c.209-129A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1010768	NM_004100.5(EYA4):c.211G>A (p.Glu71Lys)	EYA4 (E71K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 1424443	NM_004100.5(EYA4):c.217A>G (p.Met73Val)	EYA4 (M73V)	Single nucleotide variant (missense variant +1 more)	not provided +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)	not specified +4 more	GUncertain significance
Select item 1704846	NM_004100.5(EYA4):c.274A>G (p.Thr92Ala)	EYA4 (T92A)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 239629	NM_004100.5(EYA4):c.277+9G>A	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J +2 more	GBenign/Likely benign
Select item 1193010	NM_004100.5(EYA4):c.277+202C>T	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1175386	NM_004100.5(EYA4):c.277+282A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 695362	NM_004100.5(EYA4):c.278-4G>A	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 2578068	NM_004100.5(EYA4):c.288T>C (p.Leu96=)	EYA4	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1318902	NM_004100.5(EYA4):c.293T>C (p.Val98Ala)	EYA4 (V75A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 633200	NM_004100.5(EYA4):c.348G>A (p.Ala116=)	EYA4	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 656589	NM_004100.5(EYA4):c.349C>T (p.Leu117Phe)	EYA4 (L117F +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1297338	NM_004100.5(EYA4):c.370+53C>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197193	NM_004100.5(EYA4):c.370+106del	EYA4	Deletion (intron variant)	not provided	GLikely benign
Select item 1237459	NM_004100.5(EYA4):c.371-299C>T	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298241	NM_004100.5(EYA4):c.371-64T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 620234	NM_004100.5(EYA4):c.409C>T (p.Gln137Ter)	EYA4 (Q137* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 654464	NM_004100.5(EYA4):c.415T>A (p.Ser139Thr)	EYA4 (S139T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 504328	NM_004100.5(EYA4):c.437+2_437+3insG	EYA4	Insertion (intron variant)	not provided	GLikely pathogenic
Select item 1233584	NM_004100.5(EYA4):c.437+57T>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221144	NM_004100.5(EYA4):c.437+88T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261488	NM_004100.5(EYA4):c.438-330T>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209382	NM_004100.5(EYA4):c.438-259A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266894	NM_004100.5(EYA4):c.438-218A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1329663	NM_004100.5(EYA4):c.438G>T (p.Lys146Asn)	EYA4 (K123N +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1407220	NM_004100.5(EYA4):c.452T>C (p.Ile151Thr)	EYA4 (I97T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1196435	NM_004100.5(EYA4):c.454C>G (p.Leu152Val)	EYA4 (L129V +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 1316071	NM_004100.5(EYA4):c.509C>T (p.Ser170Leu)	EYA4 (S116L +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 228681	NM_004100.5(EYA4):c.529G>A (p.Val177Ile)	EYA4 (V177I +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +4 more	GUncertain significance
Select item 264605	NM_004100.5(EYA4):c.550A>G (p.Thr184Ala)	EYA4 (T184A +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1052410	NM_004100.5(EYA4):c.557A>G (p.Gln186Arg)	EYA4 (Q132R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 504007	NM_004100.5(EYA4):c.578dup (p.Tyr193Ter)	EYA4 (Y193* +2 more)	Duplication (nonsense)	not provided	GPathogenic
Select item 3343181	NM_004100.5(EYA4):c.578A>T (p.Tyr193Phe)	EYA4 (Y139F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318692	NM_004100.5(EYA4):c.580G>T (p.Asp194Tyr)	EYA4 (D140Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317222	NM_004100.5(EYA4):c.580G>A (p.Asp194Asn)	EYA4 (D140N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 178670	NM_004100.5(EYA4):c.580+14_580+16del	EYA4	Microsatellite (intron variant)	not provided +4 more	GBenign/Likely benign
Select item 1316617	NM_004100.5(EYA4):c.585G>C (p.Leu195Phe)	EYA4 (L141F +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 581663	NM_004100.5(EYA4):c.683C>T (p.Thr228Ile)	EYA4 (T228I +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1723644	NM_004100.5(EYA4):c.686C>A (p.Pro229Gln)	EYA4 (P175Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1418270	NM_004100.5(EYA4):c.686C>T (p.Pro229Leu)	EYA4 (P229L +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +3 more	GUncertain significance
Select item 1266436	NM_004100.5(EYA4):c.724+152C>T	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1297337	NM_004100.5(EYA4):c.724+161G>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227007	NM_004100.5(EYA4):c.725-293T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180309	NM_004100.5(EYA4):c.725-264A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205317	NM_004100.5(EYA4):c.725-173T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3371967	NM_004100.5(EYA4):c.735T>G (p.Phe245Leu)	EYA4 (F191L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2147950	NM_004100.5(EYA4):c.740C>G (p.Pro247Arg)	EYA4 (P224R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 410661	NM_004100.5(EYA4):c.749C>A (p.Thr250Asn)	EYA4 (T250N +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 1759612	NM_004100.5(EYA4):c.757G>A (p.Ala253Thr)	EYA4 (A199T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 465989	NM_004100.5(EYA4):c.768A>G (p.Ser256=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 44772	NM_004100.5(EYA4):c.783G>A (p.Thr261=)	EYA4	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 10 +4 more	GConflicting classifications of pathogenicity
Select item 1761318	NM_004100.5(EYA4):c.793G>A (p.Gly265Ser)	EYA4 (G242S +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 3369585	NM_004100.5(EYA4):c.799C>A (p.Gln267Lys)	EYA4 (Q213K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 811666	NM_004100.5(EYA4):c.804+16G>T	EYA4	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 918094	NM_004100.5(EYA4):c.804+17T>C	EYA4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1215604	NM_004100.5(EYA4):c.805-254A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1315817	NM_004100.5(EYA4):c.824C>T (p.Ala275Val)	EYA4 (A221V +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 44773	NM_004100.5(EYA4):c.829G>A (p.Gly277Ser)	EYA4 (G277S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 847971	NM_004100.5(EYA4):c.860C>T (p.Ala287Val)	EYA4 (A233V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 163446	NM_004100.5(EYA4):c.866C>T (p.Thr289Met)	EYA4 (T289M +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +4 more	GConflicting classifications of pathogenicity
Select item 163447	NM_004100.5(EYA4):c.905G>A (p.Gly302Asp)	EYA4 (G302D +2 more)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 1428813	NM_004100.5(EYA4):c.919A>G (p.Thr307Ala)	EYA4 (T284A +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 702124	NM_004100.5(EYA4):c.925A>G (p.Thr309Ala)	EYA4 (T286A +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 653594	NM_004100.5(EYA4):c.961A>G (p.Asn321Asp)	EYA4 (N267D +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 574677	NM_004100.5(EYA4):c.970+6G>T	EYA4 (D326Y +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 674895	NM_004100.5(EYA4):c.970+92G>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676338	NM_004100.5(EYA4):c.971-59G>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 239631	NM_004100.5(EYA4):c.971-7T>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 191663	NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)	EYA4 (F326L +4 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +3 more	GUncertain significance
Select item 962981	NM_004100.5(EYA4):c.979G>C (p.Asp327His)	EYA4 (D333H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 191664	NM_004100.5(EYA4):c.979G>A (p.Asp327Asn)	EYA4 (D327N +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 239632	NM_004100.5(EYA4):c.987G>T (p.Met329Ile)	EYA4 (M329I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GConflicting classifications of pathogenicity
Select item 2446670	NM_004100.5(EYA4):c.988C>T (p.Gln330Ter)	EYA4 (Q276* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 817674	NM_004100.5(EYA4):c.991_992del (p.Pro332fs)	EYA4 (P309fs +4 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 818032	NM_004100.5(EYA4):c.1011del (p.Asp338fs)	EYA4 (D290fs +4 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2499707	NM_004100.5(EYA4):c.1015C>G (p.Leu339Val)	EYA4 (L285V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253438	NM_004100.5(EYA4):c.1016T>G (p.Leu339Arg)	EYA4 (L285R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 519072	NM_004100.5(EYA4):c.1042G>C (p.Gly348Arg)	EYA4 (G348R +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance

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