"Ambry Genetics"[submitter] AND "EYA4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 191657	NM_004100.5(EYA4):c.2T>C (p.Met1Thr)	EYA4 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
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 2492559	NM_004100.5(EYA4):c.7G>A (p.Asp3Asn)	EYA4 (D3N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 227371	NM_004100.5(EYA4):c.9C>T (p.Asp3=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1769347	NM_004100.5(EYA4):c.12C>T (p.Ser4=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 518530	NM_004100.5(EYA4):c.16G>A (p.Asp6Asn)	EYA4 (D6N)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1729969	NM_004100.5(EYA4):c.33+5G>A	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 1895506	NM_004100.5(EYA4):c.37A>G (p.Lys13Glu)	EYA4 (K13E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2244206	NM_004100.5(EYA4):c.40A>G (p.Lys14Glu)	EYA4 (K14E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1477157	NM_004100.5(EYA4):c.43A>G (p.Thr15Ala)	EYA4 (T15A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1580624	NM_004100.5(EYA4):c.45G>A (p.Thr15=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 1134764	NM_004100.5(EYA4):c.51A>G (p.Thr17=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 1747931	NM_004100.5(EYA4):c.54A>G (p.Glu18=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1085409	NM_004100.5(EYA4):c.69A>G (p.Gln23=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 3223703	NM_004100.5(EYA4):c.70T>C (p.Ser24Pro)	EYA4 (S24P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GLikely benign
Select item 1763428	NM_004100.5(EYA4):c.84-4C>T	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GLikely benign
Select item 2563262	NM_004100.5(EYA4):c.84G>T (p.Arg28Ser)	EYA4 (R28S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 2313040	NM_004100.5(EYA4):c.89T>C (p.Met30Thr)	EYA4 (M30T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 518967	NM_004100.5(EYA4):c.89T>A (p.Met30Lys)	EYA4 (M30K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2093757	NM_004100.5(EYA4):c.98A>C (p.Gln33Pro)	EYA4 (Q33P)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 839376	NM_004100.5(EYA4):c.103C>G (p.Leu35Val)	EYA4 (L35V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GConflicting classifications of pathogenicity
Select item 2866361	NM_004100.5(EYA4):c.110G>A (p.Ser37Asn)	EYA4 (S37N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2497633	NM_004100.5(EYA4):c.119C>T (p.Thr40Ile)	EYA4 (T40I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	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 1520259	NM_004100.5(EYA4):c.137A>G (p.Asp46Gly)	EYA4 (D46G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 647739	NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)	EYA4 (S50C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +3 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 853318	NM_004100.5(EYA4):c.158T>C (p.Leu53Pro)	EYA4 (L53P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1776566	NM_004100.5(EYA4):c.161A>T (p.Glu54Val)	EYA4 (E54V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 263420	NM_004100.5(EYA4):c.179G>T (p.Ser60Ile)	EYA4 (S60I)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2333896	NM_004100.5(EYA4):c.191C>G (p.Thr64Ser)	EYA4 (T64S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1782862	NM_004100.5(EYA4):c.192T>C (p.Thr64=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1784722	NM_004100.5(EYA4):c.202A>G (p.Thr68Ala)	EYA4 (T68A)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 1372072	NM_004100.5(EYA4):c.213A>C (p.Glu71Asp)	EYA4 (E71D)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
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 2625469	NM_004100.5(EYA4):c.238G>A (p.Asp80Asn)	EYA4 (D80N)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 654851	NM_004100.5(EYA4):c.251G>A (p.Ser84Asn)	EYA4 (S84N)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J +1 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 1594458	NM_004100.5(EYA4):c.255C>T (p.Cys85=)	EYA4	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 659120	NM_004100.5(EYA4):c.260C>T (p.Thr87Ile)	EYA4 (T87I)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 163443	NM_004100.5(EYA4):c.263C>G (p.Pro88Arg)	EYA4 (P88R)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 3276891	NM_004100.5(EYA4):c.264C>G (p.Pro88=)	EYA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 518579	NM_004100.5(EYA4):c.271G>T (p.Ala91Ser)	EYA4 (A91S)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +1 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 695362	NM_004100.5(EYA4):c.278-4G>A	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 1799241	NM_004100.5(EYA4):c.304C>T (p.Pro102Ser)	EYA4 (P79S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1727449	NM_004100.5(EYA4):c.308T>C (p.Leu103Ser)	EYA4 (L103S +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1728276	NM_004100.5(EYA4):c.315C>T (p.Ser105=)	EYA4	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1J +2 more	GConflicting classifications of pathogenicity
Select item 3223697	NM_004100.5(EYA4):c.316A>G (p.Ser106Gly)	EYA4 (S106G +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 521895	NM_004100.5(EYA4):c.316del (p.Ser106fs)	EYA4 (S83fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 1729391	NM_004100.5(EYA4):c.324C>G (p.Thr108=)	EYA4	Single nucleotide variant (synonymous variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 3223698	NM_004100.5(EYA4):c.344G>A (p.Gly115Glu)	EYA4 (G115E +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 355443	NM_004100.5(EYA4):c.347C>T (p.Ala116Val)	EYA4 (A116V +1 more)	Single nucleotide variant (missense variant +1 more)	Ventricular tachycardia +4 more	GConflicting classifications of pathogenicity
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 2563263	NM_004100.5(EYA4):c.365G>C (p.Gly122Ala)	EYA4 (G99A +1 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 1734221	NM_004100.5(EYA4):c.371-3C>T	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 2448319	NM_004100.5(EYA4):c.377C>G (p.Thr126Arg)	EYA4 (T126R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1737437	NM_004100.5(EYA4):c.405A>G (p.Ala135=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1520089	NM_004100.5(EYA4):c.407A>G (p.His136Arg)	EYA4 (H136R +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 837572	NM_004100.5(EYA4):c.410A>G (p.Gln137Arg)	EYA4 (Q137R +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
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 1740279	NM_004100.5(EYA4):c.439C>T (p.Pro147Ser)	EYA4 (P147S +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 851520	NM_004100.5(EYA4):c.443A>T (p.Tyr148Phe)	EYA4 (Y148F +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 3223699	NM_004100.5(EYA4):c.451A>G (p.Ile151Val)	EYA4 (I128V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 518569	NM_004100.5(EYA4):c.458C>G (p.Ser153Cys)	EYA4 (S153C +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1742443	NM_004100.5(EYA4):c.468A>T (p.Ala156=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +1 more	GConflicting classifications of pathogenicity
Select item 662923	NM_004100.5(EYA4):c.478A>G (p.Met160Val)	EYA4 (M137V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1003762	NM_004100.5(EYA4):c.494G>A (p.Gly165Asp)	EYA4 (G111D +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 3276893	NM_004100.5(EYA4):c.508T>C (p.Ser170Pro)	EYA4 (S147P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	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 2157989	NM_004100.5(EYA4):c.511G>C (p.Gly171Arg)	EYA4 (G148R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 1746608	NM_004100.5(EYA4):c.528C>G (p.Ala176=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 465987	NM_004100.5(EYA4):c.528C>T (p.Ala176=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 2625468	NM_004100.5(EYA4):c.540C>T (p.Ala180=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 1747707	NM_004100.5(EYA4):c.546A>T (p.Ser182=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
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 1146778	NM_004100.5(EYA4):c.552A>G (p.Thr184=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
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 2140582	NM_004100.5(EYA4):c.578A>G (p.Tyr193Cys)	EYA4 (Y139C +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1021208	NM_004100.5(EYA4):c.579C>T (p.Tyr193=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 836382	NM_004100.5(EYA4):c.590T>C (p.Val197Ala)	EYA4 (V143A +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2531188	NM_004100.5(EYA4):c.592A>G (p.Met198Val)	EYA4 (M175V +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 969405	NM_004100.5(EYA4):c.601G>A (p.Ala201Thr)	EYA4 (A147T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 848246	NM_004100.5(EYA4):c.623T>C (p.Leu208Pro)	EYA4 (L154P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2448318	NM_004100.5(EYA4):c.625T>C (p.Ser209Pro)	EYA4 (S186P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1752768	NM_004100.5(EYA4):c.630A>G (p.Gln210=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3091323	NM_004100.5(EYA4):c.631A>C (p.Thr211Pro)	EYA4 (T157P +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 1140623	NM_004100.5(EYA4):c.633T>G (p.Thr211=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 239630	NM_004100.5(EYA4):c.641C>A (p.Pro214Gln)	EYA4 (P214Q +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1753465	NM_004100.5(EYA4):c.642A>G (p.Pro214=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign
Select item 3223700	NM_004100.5(EYA4):c.647A>G (p.Gln216Arg)	EYA4 (Q162R +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 534394	NM_004100.5(EYA4):c.660C>A (p.Leu220=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 1360273	NM_004100.5(EYA4):c.668G>C (p.Ser223Thr)	EYA4 (S169T +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 1106617	NM_004100.5(EYA4):c.675G>T (p.Gly225=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +1 more	GLikely benign

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