Related gene-specific medical variations for Gene (Select 2070) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370193	NM_004100.5(EYA4):c.1211C>A (p.Thr404Asn)	EYA4, LOC126859796 +1 more (T350N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3365340	NM_004100.5(EYA4):c.1466A>G (p.Lys489Arg)	EYA4, TARID (K435R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364855	NM_004100.5(EYA4):c.1535_1536insGTT (p.Leu512_Gln513insLeu)	EYA4, TARID	Insertion	not provided	GUncertain significance
Select item 3364347	NM_004100.5(EYA4):c.1415G>C (p.Arg472Thr)	EYA4, TARID (R449T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363742	NM_004100.5(EYA4):c.1388C>A (p.Ala463Glu)	EYA4, TARID (A409E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359287	NM_004100.5(EYA4):c.1739-118G>T	EYA4 (R533L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359278	NM_004100.5(EYA4):c.733T>C (p.Phe245Leu)	EYA4 (F191L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338283	NM_004100.5(EYA4):c.1745_1748del (p.Glu582fs)	EYA4, TARID (E534fs +3 more)	Microsatellite (frameshift variant +1 more)	Autosomal dominant nonsyndromic hearing loss 10	GLikely pathogenic
Select item 3276895	NM_004100.5(EYA4):c.1436G>C (p.Arg479Thr)	EYA4, TARID (R431T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3276889	NM_004100.5(EYA4):c.1197C>G (p.Pro399=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3246005	NC_000006.11:g.(?_133783902)_(133788747_?)del	EYA4	Deletion	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 3246004	NC_000006.11:g.(?_133595919)_(133595971_?)del	EYA4	Deletion	Dilated cardiomyopathy 1J	GPathogenic
Select item 3223696	NM_004100.5(EYA4):c.1844A>G (p.Asn615Ser)	EYA4, TARID (N561S +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223695	NM_004100.5(EYA4):c.1839+1G>A	EYA4, TARID	Single nucleotide variant (splice donor variant +1 more)	Cardiovascular phenotype	GLikely pathogenic
Select item 3223694	NM_004100.5(EYA4):c.1735A>G (p.Ile579Val)	EYA4, TARID (I525V +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223693	NM_004100.5(EYA4):c.1592A>C (p.Lys531Thr)	EYA4, TARID (K477T +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223692	NM_004100.5(EYA4):c.1473A>G (p.Leu491=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3091322	NM_004100.5(EYA4):c.1373C>A (p.Ala458Glu)	EYA4, TARID (A410E +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3062898	GRCh37/hg19 6q23.2(chr6:133848308-133987374)x1	EYA4	Copy number loss	not specified	GUncertain significance
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 3023058	NM_004100.5(EYA4):c.1443G>T (p.Leu481Phe)	EYA4, TARID (L458F +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 3017398	NM_004100.5(EYA4):c.1708A>G (p.Ile570Val)	EYA4, TARID (I522V +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3015782	NM_004100.5(EYA4):c.1617-5T>A	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 3014727	NM_004100.5(EYA4):c.1528G>A (p.Ala510Thr)	EYA4, TARID (A456T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 3014452	NM_004100.5(EYA4):c.1778G>C (p.Gly593Ala)	EYA4, TARID (G570A +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 3001469	NM_004100.5(EYA4):c.1802T>C (p.Ile601Thr)	EYA4, TARID (I601T +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2996727	NM_004100.5(EYA4):c.1766T>C (p.Met589Thr)	EYA4, TARID (M541T +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2994311	NM_004100.5(EYA4):c.1647A>T (p.Thr549=)	TARID, EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2986833	NM_004100.5(EYA4):c.1271A>G (p.Asn424Ser)	EYA4, LOC126859796 +1 more (N401S +4 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2973068	NM_004100.5(EYA4):c.1284G>C (p.Glu428Asp)	EYA4, TARID (E428D +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2968318	NM_004100.5(EYA4):c.1202T>C (p.Met401Thr)	EYA4, LOC126859796 +1 more (M378T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2917185	NM_004100.5(EYA4):c.1656G>A (p.Leu552=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2898526	NM_004100.5(EYA4):c.1282-6T>A	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2895177	NM_004100.5(EYA4):c.1750T>G (p.Cys584Gly)	EYA4, TARID (C536G +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2872456	NM_004100.5(EYA4):c.1600T>A (p.Ser534Thr)	EYA4, TARID (S480T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2867490	NM_004100.5(EYA4):c.1318G>C (p.Asp440His)	EYA4, TARID (D386H +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2866456	NM_004100.5(EYA4):c.1340+16_1340+19del	EYA4, TARID	Deletion (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2843155	NM_004100.5(EYA4):c.1518C>G (p.Ala506=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2842230	NM_004100.5(EYA4):c.1404A>C (p.Pro468=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2833829	NM_004100.5(EYA4):c.1776dup (p.Gly593fs)	EYA4, TARID (G545fs +3 more)	Duplication (frameshift variant +1 more)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2828642	NM_004100.5(EYA4):c.1798G>A (p.Val600Ile)	EYA4, TARID (V600I +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2825174	NM_004100.5(EYA4):c.1512C>T (p.Gly504=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2825147	NM_004100.5(EYA4):c.1416_1417del (p.Gly473fs)	EYA4, TARID (G479fs +4 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2813054	NM_004100.5(EYA4):c.1750T>C (p.Cys584Arg)	EYA4, TARID (C561R +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2809749	NM_004100.5(EYA4):c.1829_1830delinsAG (p.Ala610Glu)	EYA4, TARID (A587E +3 more)	Indel (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2802489	NM_004100.5(EYA4):c.1340+19T>C	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2795517	NM_004100.5(EYA4):c.1282-16C>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2790915	NM_004100.5(EYA4):c.1341-17T>C	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2789617	NM_004100.5(EYA4):c.1566A>T (p.Thr522=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2786833	NM_004100.5(EYA4):c.1709T>C (p.Ile570Thr)	EYA4, TARID (I516T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2784436	NM_004100.5(EYA4):c.1467A>C (p.Lys489Asn)	EYA4, TARID (K441N +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2771157	NM_004100.5(EYA4):c.1346A>G (p.Tyr449Cys)	EYA4, TARID (Y401C +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2768830	NM_004100.5(EYA4):c.1769A>G (p.Gln590Arg)	EYA4, TARID (Q590R +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2765214	NM_004100.5(EYA4):c.1800A>G (p.Val600=)	EYA4, TARID	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2761099	NM_004100.5(EYA4):c.1907T>G (p.Leu636Ter)	EYA4, TARID (L588* +4 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2761072	NM_004100.5(EYA4):c.1738+8A>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2748577	NM_004100.5(EYA4):c.1648A>G (p.Thr550Ala)	EYA4, TARID (T527A +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2741256	NM_004100.5(EYA4):c.1432A>T (p.Met478Leu)	EYA4, TARID (M424L +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2739823	NM_004100.5(EYA4):c.1359T>C (p.Thr453=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2738003	NM_004100.5(EYA4):c.1616+14T>A	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2737571	NM_004100.5(EYA4):c.1386T>C (p.Ser462=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 2711484	NM_004100.5(EYA4):c.1748G>T (p.Ser583Ile)	EYA4, TARID (S560I +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2701973	NM_004100.5(EYA4):c.1616G>C (p.Arg539Thr)	EYA4, TARID (R485T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2656920	NM_004100.5(EYA4):c.1384A>G (p.Ser462Gly)	EYA4, TARID (S408G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 2625467	NM_004100.5(EYA4):c.1593G>A (p.Lys531=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 2573697	NM_004100.5(EYA4):c.1501G>A (p.Gly501Arg)	EYA4, TARID (G447R +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2572804	NM_004100.5(EYA4):c.1745A>G (p.Glu582Gly)	EYA4, TARID (E534G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572689	NM_004100.5(EYA4):c.1404A>G (p.Pro468=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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	GLikely benign
Select item 2502098	NM_004100.5(EYA4):c.1423G>T (p.Val475Phe)	EYA4, TARID (V421F +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2497883	NM_004100.5(EYA4):c.1553T>C (p.Ile518Thr)	EYA4, TARID (I464T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2448322	NM_004100.5(EYA4):c.1276T>A (p.Leu426Ile)	EYA4, LOC126859796 +1 more (L378I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2448320	NM_004100.5(EYA4):c.1411G>A (p.Val471Ile)	EYA4, TARID (V417I +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2441311	NM_004100.5(EYA4):c.443A>G (p.Tyr148Cys)	EYA4 (Y125C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440135	NM_004100.5(EYA4):c.1069A>T (p.Lys357Ter)	EYA4 (K303* +4 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2440127	NM_004100.5(EYA4):c.863C>G (p.Ser288Ter)	EYA4 (S234* +2 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2430587	NM_004100.5(EYA4):c.1216G>A (p.Gly406Arg)	EYA4, LOC126859796 +1 more (G352R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2428533	NM_004100.5(EYA4):c.529G>T (p.Val177Phe)	EYA4 (V123F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413422	NM_004100.5(EYA4):c.1464A>G (p.Val488=)	EYA4, TARID	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2202632	NM_004100.5(EYA4):c.1192-14C>T	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2202330	NM_004100.5(EYA4):c.1840-14T>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2190499	NM_004100.5(EYA4):c.1738G>A (p.Gly580Arg)	EYA4, TARID (G557R +6 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2176194	NM_004100.5(EYA4):c.1192-24_1192-20del	EYA4, LOC126859796 +1 more	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2176041	NM_004100.5(EYA4):c.1840-11T>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2171217	NM_004100.5(EYA4):c.1801A>G (p.Ile601Val)	EYA4, TARID (I553V +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2149696	NM_004100.5(EYA4):c.1625G>A (p.Cys542Tyr)	EYA4, TARID (C548Y +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2142652	NM_004100.5(EYA4):c.1340+20A>G	EYA4, TARID	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2142330	NM_004100.5(EYA4):c.1840-13_1840-11del	EYA4, TARID	Deletion (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2142169	NM_004100.5(EYA4):c.1520A>C (p.Lys507Thr)	EYA4, TARID (K459T +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2131935	NM_004100.5(EYA4):c.1330C>A (p.Gln444Lys)	EYA4, TARID (Q421K +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2129614	NM_004100.5(EYA4):c.1808A>C (p.Asp603Ala)	EYA4, TARID (D609A +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2126614	NM_004100.5(EYA4):c.1385G>T (p.Ser462Ile)	EYA4, TARID (S462I +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2126137	NM_004100.5(EYA4):c.1472del (p.Leu491fs)	EYA4, TARID (L497fs +4 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2124025	NM_004100.5(EYA4):c.1439A>T (p.Lys480Met)	EYA4, TARID (K426M +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2121030	NM_004100.5(EYA4):c.1316C>T (p.Ser439Phe)	EYA4, TARID (S385F +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2112319	NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter)	EYA4, TARID (W471* +4 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2110939	NM_004100.5(EYA4):c.1747A>G (p.Ser583Gly)	TARID, EYA4 (S560G +3 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance

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