"GeneDx"[submitter] AND "EYA1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60364	GRCh38/hg38 8q12.3-21.11(chr8:62230636-73227786)x1	ADHFE1, ARFGEF1 +228 more	Copy number loss	See cases	GPathogenic
Select item 59789	GRCh38/hg38 8q13.3-21.11(chr8:70948393-74353284)x3	C8orf89, ELOC +78 more	Copy number gain	See cases	GPathogenic
Select item 145997	GRCh38/hg38 8q13.3(chr8:71186873-71428549)x1	EYA1, LOC130000578 +4 more	Copy number loss	See cases	GPathogenic
Select item 910386	NM_000503.6(EYA1):c.*102T>G	EYA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 363646	NM_000503.6(EYA1):c.*23G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 1235030	NM_000503.6(EYA1):c.*9G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 48107	NM_000503.6(EYA1):c.1755T>C (p.His585=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign
Select item 48106	NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	EYA1 (L583P +4 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GLikely pathogenic
Select item 422377	NM_000503.6(EYA1):c.1714dup (p.Trp572fs)	EYA1 (W572fs +4 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 48105	NM_000503.6(EYA1):c.1699-3C>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +4 more	GBenign
Select item 194813	NM_000503.6(EYA1):c.1699-8T>C	EYA1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1263353	NM_000503.6(EYA1):c.1699-23A>G	EYA1	Single nucleotide variant (intron variant)	Branchiootorenal syndrome 1 +3 more	GBenign
Select item 1248604	NM_000503.6(EYA1):c.1699-55G>A	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1174273	NM_000503.6(EYA1):c.1699-84C>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2444665	NM_000503.6(EYA1):c.1699-119_1699-116dup	EYA1	Duplication (intron variant)	not provided	GLikely benign
Select item 1267965	NM_000503.6(EYA1):c.1698+344C>T	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243861	NM_000503.6(EYA1):c.1698+133A>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2575540	NM_000503.6(EYA1):c.1697A>G (p.Lys566Arg)	EYA1 (K444R +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252757	NM_000503.6(EYA1):c.1664G>A (p.Gly555Glu)	EYA1 (G433E +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1321567	NM_000503.6(EYA1):c.1659T>C (p.Val553=)	EYA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1329733	NM_000503.6(EYA1):c.1621A>G (p.Ile541Val)	EYA1 (I419V +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800609	NM_000503.6(EYA1):c.1598-32_1598-8del	EYA1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1267879	NM_000503.6(EYA1):c.1598-326C>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189998	NM_000503.6(EYA1):c.1597+288del	EYA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1218347	NM_000503.6(EYA1):c.1597+114del	EYA1	Deletion (intron variant)	not provided	GLikely benign
Select item 1238487	NM_000503.6(EYA1):c.1597+60G>A	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225926	NM_000503.6(EYA1):c.1597+59C>T	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284938	NM_000503.6(EYA1):c.1597+18T>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +4 more	GBenign/Likely benign
Select item 1704965	NM_000503.6(EYA1):c.1597+1G>C	EYA1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2575017	NM_000503.6(EYA1):c.1570G>T (p.Glu524Ter)	EYA1 (E402* +5 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1205479	NM_000503.6(EYA1):c.1543T>C (p.Tyr515His)	EYA1 (Y393H +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 379874	NM_000503.6(EYA1):c.1531A>T (p.Lys511Ter)	EYA1 (K511* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1253275	NM_000503.6(EYA1):c.1476-21G>T	EYA1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1339866	NM_000503.6(EYA1):c.1475G>A (p.Arg492Gln)	EYA1 (R370Q +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3373033	NM_000503.6(EYA1):c.1472C>G (p.Ser491Cys)	EYA1 (S369C +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314252	NM_000503.6(EYA1):c.1468C>G (p.His490Asp)	EYA1 (H368D +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 228678	NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	EYA1 (S487L +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +5 more	GConflicting classifications of pathogenicity
Select item 1312179	NM_000503.6(EYA1):c.1454C>T (p.Ala485Val)	EYA1 (A363V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 957904	NM_000503.6(EYA1):c.1433G>A (p.Trp478Ter)	EYA1 (W356* +4 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 227367	NM_000503.6(EYA1):c.1377T>A (p.Ala459=)	EYA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 1218179	NM_000503.6(EYA1):c.1361-267C>T	EYA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233773	NM_000503.6(EYA1):c.1360+286_1360+303dup	EYA1	Duplication (intron variant)	not provided	GBenign
Select item 1252366	NM_000503.6(EYA1):c.1360+53C>T	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 910434	NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe)	EYA1 (Y432F +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +5 more	GUncertain significance
Select item 2499722	NM_000503.6(EYA1):c.1310G>A (p.Arg437His)	EYA1 (R315H +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 48101	NM_000503.6(EYA1):c.1278C>T (p.Gly426=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +4 more	GBenign
Select item 7938	NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser)	EYA1 (G426S +4 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1516097	NM_000503.6(EYA1):c.1273C>T (p.Arg425Trp)	EYA1 (R454W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3340777	NM_000503.6(EYA1):c.1254_1255del (p.Cys419fs)	EYA1 (C297fs +5 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1302382	NM_000503.6(EYA1):c.1224C>T (p.Gly408=)	EYA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 578749	NM_000503.6(EYA1):c.1200-1G>A	EYA1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 363650	NM_000503.6(EYA1):c.1200-11C>A	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +5 more	GBenign/Likely benign
Select item 1698351	NM_000503.6(EYA1):c.1189C>T (p.Gln397Ter)	EYA1 (Q275* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 48100	NM_000503.6(EYA1):c.1185C>T (p.Asn395=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign/Likely benign
Select item 1307077	NM_000503.6(EYA1):c.1157A>T (p.His386Leu)	EYA1 (H264L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504948	NM_000503.6(EYA1):c.1145G>A (p.Cys382Tyr)	EYA1 (C260Y +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 163434	NM_000503.6(EYA1):c.1141-15T>G	EYA1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1201988	NM_000503.6(EYA1):c.1140+69A>G	EYA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 459252	NM_000503.6(EYA1):c.1140+4_1140+7del	EYA1	Deletion (intron variant)	not provided +1 more	GUncertain significance
Select item 265621	NM_000503.6(EYA1):c.1117_1118del (p.His373fs)	EYA1 (H367fs +3 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 7943	NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)	EYA1 (R361* +3 more)	Single nucleotide variant (nonsense +1 more)	EYA1-related disorder +4 more	GPathogenic
Select item 2502735	NM_000503.6(EYA1):c.1053T>G (p.Asp351Glu)	EYA1 (D229E +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699634	NM_000503.6(EYA1):c.1051G>T (p.Asp351Tyr)	EYA1 (D229Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1405776	NM_000503.6(EYA1):c.1051-12T>G	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +1 more	GUncertain significance
Select item 1279499	NM_000503.6(EYA1):c.1051-323C>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259003	NM_000503.6(EYA1):c.1050+113G>A	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293663	NM_000503.6(EYA1):c.1050+107A>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266238	NM_000503.6(EYA1):c.1050+66T>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181290	NM_000503.6(EYA1):c.1050+28A>C	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1311165	NM_000503.6(EYA1):c.1046G>T (p.Gly349Val)	EYA1 (G227V +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2501641	NM_000503.6(EYA1):c.1029del (p.Tyr344fs)	EYA1 (Y222fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 682031	NM_000503.6(EYA1):c.1026G>A (p.Gly342=)	EYA1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3363633	NM_000503.6(EYA1):c.974T>C (p.Phe325Ser)	EYA1 (F203S +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3378188	NM_000503.6(EYA1):c.971T>G (p.Val324Gly)	EYA1 (V202G +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442529	NM_000503.6(EYA1):c.971T>C (p.Val324Ala)	EYA1 (V202A +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1179819	NM_000503.6(EYA1):c.966+250A>G	EYA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1248366	NM_000503.6(EYA1):c.966+233_966+236del	EYA1	Microsatellite (intron variant)	not provided	GBenign
Select item 1800876	NM_000503.6(EYA1):c.966+5G>T	EYA1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1200025	NM_000503.6(EYA1):c.966+5G>C	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +1 more	GConflicting classifications of pathogenicity
Select item 7945	NM_000503.6(EYA1):c.966+5G>A	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +2 more	GPathogenic
Select item 363651	NM_000503.6(EYA1):c.966+4C>T	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +5 more	GBenign/Likely benign
Select item 7929	NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	EYA1 (R308* +5 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic
Select item 1697037	NM_000503.6(EYA1):c.900T>C (p.Asp300=)	EYA1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 363653	NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)	EYA1 (R297Q +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +4 more	GConflicting classifications of pathogenicity
Select item 429912	NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	EYA1 (R297* +5 more)	Single nucleotide variant (nonsense)	EYA1-related disorder +5 more	GPathogenic
Select item 788870	NM_000503.6(EYA1):c.884T>C (p.Leu295Ser)	EYA1 (L318S +5 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3365947	NM_000503.6(EYA1):c.883T>G (p.Leu295Val)	EYA1 (L173V +6 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 834788	NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)	EYA1 (R172* +5 more)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 501623	NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)	EYA1 (D289Y +5 more)	Single nucleotide variant (missense variant)	Hearing impairment +5 more	GConflicting classifications of pathogenicity
Select item 2574939	NM_000503.6(EYA1):c.845_852del (p.Ser282fs)	EYA1 (S160fs +6 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 163435	NM_000503.6(EYA1):c.840C>A (p.Ile280=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign/Likely benign
Select item 1293658	NM_000503.6(EYA1):c.827-104A>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 60373	GRCh38/hg38 8q13.3(chr8:71278615-71962825)x1	EYA1, LOC108004544 +16 more	Copy number loss	See cases	GPathogenic
Select item 1289023	NM_000503.6(EYA1):c.826+244C>G	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191796	NM_000503.6(EYA1):c.826+214C>G	EYA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1293656	NM_000503.6(EYA1):c.826+104C>T	EYA1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 48109	NM_000503.6(EYA1):c.813A>G (p.Thr271=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign
Select item 2663744	NM_000503.6(EYA1):c.811A>T (p.Thr271Ser)	EYA1 (T149S +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 363654	NM_000503.6(EYA1):c.783G>A (p.Pro261=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +3 more	GBenign/Likely benign
Select item 363655	NM_000503.6(EYA1):c.782C>T (p.Pro261Leu)	EYA1 (P261L +5 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign

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