ClinVar for Gene (Select 2070) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3370331	NM_004100.5(EYA4):c.1122G>A (p.Trp374Ter)	EYA4 (W320* +4 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GLikely pathogenic
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 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 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 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 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 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 3276892	NM_004100.5(EYA4):c.1032T>C (p.Cys344=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 3276890	NM_004100.5(EYA4):c.783G>C (p.Thr261=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
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 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 3246194	NC_000006.11:g.(?_131894423)_(133849943_?)del	ARG1, CCN2 +19 more	Deletion	not provided	GPathogenic
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 3239625	GRCh37/hg19 6q23.2(chr6:133782252-133804253)x1	EYA4	Copy number loss	not provided	GPathogenic
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 3223702	NM_004100.5(EYA4):c.708T>C (p.Tyr236=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3223701	NM_004100.5(EYA4):c.678C>T (p.Phe226=)	EYA4	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	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 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 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 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 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 3223691	NM_004100.5(EYA4):c.1000A>G (p.Thr334Ala)	EYA4 (T280A +4 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3091324	NM_004100.5(EYA4):c.931C>G (p.Gln311Glu)	EYA4 (Q288E +2 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
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 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 3067626	NM_004100.5(EYA4):c.153C>T (p.Ser51=)	EYA4	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3062934	GRCh37/hg19 6q23.2-24.2(chr6:131569837-145572239)x3	ABRACL, ADAT2 +69 more	Copy number gain	not specified	GPathogenic
Select item 3062902	GRCh37/hg19 6q22.31-25.3(chr6:119840686-156623091)x3	ABRACL, ADAT2 +155 more	Copy number gain	not specified	GPathogenic
Select item 3062898	GRCh37/hg19 6q23.2(chr6:133848308-133987374)x1	EYA4	Copy number loss	not specified	GUncertain significance
Select item 3053111	NM_004100.5(EYA4):c.858A>G (p.Ser286=)	EYA4	Single nucleotide variant (synonymous variant)	EYA4-related disorder	GLikely benign
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 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)	Dilated cardiomyopathy 1J	GLikely benign
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

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