ClinVar for MedGen (Select 343105) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3015060	NM_004100.5(EYA4):c.437+11A>G	EYA4	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 3014435	NM_004100.5(EYA4):c.34-17G>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 3004978	NM_004100.5(EYA4):c.725-19A>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2990310	NM_004100.5(EYA4):c.580+5T>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
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 2984571	NM_004100.5(EYA4):c.278-5C>T	EYA4	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2980768	NM_004100.5(EYA4):c.396C>T (p.Pro132=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2974254	NM_004100.5(EYA4):c.558G>A (p.Gln186=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2961028	NM_004100.5(EYA4):c.121C>A (p.Leu41Ile)	EYA4 (L41I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2960582	NM_004100.5(EYA4):c.24T>G (p.Asn8Lys)	EYA4 (N8K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2919776	NM_004100.5(EYA4):c.498G>A (p.Gln166=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2918604	NM_004100.5(EYA4):c.1020T>A (p.Asp340Glu)	EYA4 (D346E +4 more)	Single nucleotide variant (missense variant)	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 2907565	NM_004100.5(EYA4):c.995C>T (p.Pro332Leu)	EYA4 (P284L +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2903398	NM_004100.5(EYA4):c.974A>C (p.Glu325Ala)	EYA4 (E271A +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2902221	NM_004100.5(EYA4):c.208+14C>A	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2901891	NM_004100.5(EYA4):c.438-14T>C	EYA4	Single nucleotide variant (intron 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 2892934	NM_004100.5(EYA4):c.190_191insAAA (p.Val63_Thr64insLys)	EYA4	Insertion (inframe_insertion)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2892883	NM_004100.5(EYA4):c.725-14T>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2885126	NM_004100.5(EYA4):c.580+15_580+16del	EYA4	Deletion (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2884806	NM_004100.5(EYA4):c.1066C>T (p.Arg356Trp)	EYA4 (R308W +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2877022	NM_004100.5(EYA4):c.724G>A (p.Gly242Ser)	EYA4 (G219S +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2876182	NM_004100.5(EYA4):c.277+1G>A	EYA4	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 2873506	NM_004100.5(EYA4):c.943T>A (p.Ser315Thr)	EYA4 (S315T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2873195	NM_004100.5(EYA4):c.875C>G (p.Ala292Gly)	EYA4 (A238G +2 more)	Single nucleotide variant (missense variant)	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 2868851	NM_004100.5(EYA4):c.1064G>A (p.Gly355Asp)	EYA4 (G301D +4 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2868487	NM_004100.5(EYA4):c.581-7T>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
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 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 2861090	NM_004100.5(EYA4):c.687A>G (p.Pro229=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2857489	NM_004100.5(EYA4):c.970+10T>C	EYA4 (L273P +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2851491	NM_004100.5(EYA4):c.136G>C (p.Asp46His)	EYA4 (D46H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2850864	NM_004100.5(EYA4):c.116A>G (p.His39Arg)	EYA4 (H39R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2843557	NM_004100.5(EYA4):c.929A>T (p.Tyr310Phe)	EYA4 (Y256F +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
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 2843050	NM_004100.5(EYA4):c.1173T>C (p.Tyr391=)	EYA4	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 2834372	NM_004100.5(EYA4):c.278-20G>A	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2832295	NM_004100.5(EYA4):c.221C>G (p.Thr74Ser)	EYA4 (T74S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
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 2828443	NM_004100.5(EYA4):c.680C>T (p.Ser227Phe)	EYA4 (S204F +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2826734	NM_004100.5(EYA4):c.1107+16C>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2821463	NM_004100.5(EYA4):c.83+6G>T	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2817666	NM_004100.5(EYA4):c.921C>G (p.Thr307=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2808412	NM_004100.5(EYA4):c.699G>A (p.Gln233=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2805944	NM_004100.5(EYA4):c.580+17G>A	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2796495	NM_004100.5(EYA4):c.155A>G (p.Lys52Arg)	EYA4 (K52R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
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 2785635	NM_004100.5(EYA4):c.44C>G (p.Thr15Arg)	EYA4 (T15R)	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 2783559	NM_004100.5(EYA4):c.579C>G (p.Tyr193Ter)	EYA4 (Y170* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2783048	NM_004100.5(EYA4):c.75G>A (p.Gln25=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2782914	NM_004100.5(EYA4):c.208+12A>T	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2781174	NM_004100.5(EYA4):c.493G>A (p.Gly165Ser)	EYA4 (G165S +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2772210	NM_004100.5(EYA4):c.724+9C>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2772149	NM_004100.5(EYA4):c.510G>A (p.Ser170=)	EYA4	Single nucleotide variant (synonymous 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 2770073	NM_004100.5(EYA4):c.424C>T (p.Leu142=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2763298	NM_004100.5(EYA4):c.561C>T (p.Pro187=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2761304	NM_004100.5(EYA4):c.531C>G (p.Val177=)	EYA4	Single nucleotide variant (synonymous variant)	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 2757501	NM_004100.5(EYA4):c.394C>A (p.Pro132Thr)	EYA4 (P109T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2755103	NM_004100.5(EYA4):c.156A>G (p.Lys52=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2753331	NM_004100.5(EYA4):c.966A>T (p.Gln322His)	EYA4 (Q268H +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2752214	NM_004100.5(EYA4):c.23A>G (p.Asn8Ser)	EYA4 (N8S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2752022	NM_004100.5(EYA4):c.290C>G (p.Ala97Gly)	EYA4 (A97G +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2751918	NM_004100.5(EYA4):c.1156C>T (p.Leu386=)	EYA4	Single nucleotide variant (synonymous 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 2748074	NM_004100.5(EYA4):c.884C>T (p.Thr295Ile)	EYA4 (T241I +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2747624	NM_004100.5(EYA4):c.218T>A (p.Met73Lys)	EYA4 (M73K)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2743883	NM_004100.5(EYA4):c.437+7G>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2743050	NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)	EYA4 (E71*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1J	GPathogenic

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