2070[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 904577	NM_004100.5(EYA4):c.-445C>T	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 355435	NM_004100.5(EYA4):c.-430T>C	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355436	NM_004100.5(EYA4):c.-408G>T	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355437	NM_004100.5(EYA4):c.-356T>C	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 905364	NM_004100.5(EYA4):c.-326C>G	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 355438	NM_004100.5(EYA4):c.-256C>T	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 906975	NM_004100.5(EYA4):c.-244C>G	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign/Likely benign
Select item 355439	NM_004100.5(EYA4):c.-227dup	EYA4	Duplication (5 prime UTR variant)	Nonsyndromic Hearing Loss, Dominant +1 more	GLikely benign
Select item 355440	NM_004100.5(EYA4):c.-124C>T	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 355441	NM_004100.5(EYA4):c.-76C>T	EYA4	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1J +1 more	GBenign
Select item 1221288	NM_004100.5(EYA4):c.-65-283G>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296325	NM_004100.5(EYA4):c.-65-170C>A	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 918093	NM_004100.5(EYA4):c.-14A>G	EYA4	Single nucleotide variant (5 prime UTR variant)	not specified	GUncertain significance
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)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 2492559	NM_004100.5(EYA4):c.7G>A (p.Asp3Asn)	EYA4 (D3N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +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)	Dilated cardiomyopathy 1J +1 more	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 2960582	NM_004100.5(EYA4):c.24T>G (p.Asn8Lys)	EYA4 (N8K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 500135	NM_004100.5(EYA4):c.26A>C (p.Glu9Ala)	EYA4 (E9A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 410662	NM_004100.5(EYA4):c.30A>G (p.Gln10=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1022045	NM_004100.5(EYA4):c.32C>T (p.Ser11Leu)	EYA4 (S11L)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +1 more	GUncertain significance
Select item 1522795	NM_004100.5(EYA4):c.33A>G (p.Ser11=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1066352	NM_004100.5(EYA4):c.33+2T>G	EYA4	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 1729969	NM_004100.5(EYA4):c.33+5G>A	EYA4	Single nucleotide variant (intron variant)	Cardiovascular phenotype	GUncertain significance
Select item 864418	NM_004100.5(EYA4):c.33+5G>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1579787	NM_004100.5(EYA4):c.33+11A>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1569965	NM_004100.5(EYA4):c.33+12T>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1529215	NM_004100.5(EYA4):c.33+19T>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1201657	NM_004100.5(EYA4):c.33+37C>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280449	NM_004100.5(EYA4):c.33+266T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276242	NM_004100.5(EYA4):c.33+276A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250672	NM_004100.5(EYA4):c.34-205A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3014435	NM_004100.5(EYA4):c.34-17G>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1585954	NM_004100.5(EYA4):c.34-16T>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1534209	NM_004100.5(EYA4):c.36A>G (p.Val12=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
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 2037629	NM_004100.5(EYA4):c.38A>G (p.Lys13Arg)	EYA4 (K13R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1410780	NM_004100.5(EYA4):c.39G>C (p.Lys13Asn)	EYA4 (K13N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2244206	NM_004100.5(EYA4):c.40A>G (p.Lys14Glu)	EYA4 (K14E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1477157	NM_004100.5(EYA4):c.43A>G (p.Thr15Ala)	EYA4 (T15A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	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 1015905	NM_004100.5(EYA4):c.44C>A (p.Thr15Lys)	EYA4 (T15K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 566153	NM_004100.5(EYA4):c.44C>T (p.Thr15Met)	EYA4 (T15M)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1580624	NM_004100.5(EYA4):c.45G>A (p.Thr15=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	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 410658	NM_004100.5(EYA4):c.59A>G (p.Asp20Gly)	EYA4 (D20G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1896684	NM_004100.5(EYA4):c.61del (p.Val21fs)	EYA4 (V21fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1470641	NM_004100.5(EYA4):c.62T>G (p.Val21Gly)	EYA4 (V21G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1640668	NM_004100.5(EYA4):c.66A>G (p.Ser22=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1419206	NM_004100.5(EYA4):c.67C>T (p.Gln23Ter)	EYA4 (Q23*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1085409	NM_004100.5(EYA4):c.69A>G (p.Gln23=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
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 410660	NM_004100.5(EYA4):c.83+5A>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 2821463	NM_004100.5(EYA4):c.83+6G>T	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1135437	NM_004100.5(EYA4):c.83+6G>A	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 465991	NM_004100.5(EYA4):c.83+6G>C	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2738257	NM_004100.5(EYA4):c.83+11A>T	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2200528	NM_004100.5(EYA4):c.83+21del	EYA4	Deletion (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 2002751	NM_004100.5(EYA4):c.83+20A>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1242654	NM_004100.5(EYA4):c.83+119T>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212607	NM_004100.5(EYA4):c.83+275T>A	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217156	NM_004100.5(EYA4):c.84-283A>G	EYA4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1236616	NM_004100.5(EYA4):c.84-236G>C	EYA4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 465981	NC_000006.12:g.(?_133446610)_(133483135_?)del	EYA4	Deletion	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2155901	NM_004100.5(EYA4):c.84-9C>G	EYA4	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1J	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 1906325	NM_004100.5(EYA4):c.86C>G (p.Ser29Cys)	EYA4 (S29C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1362978	NM_004100.5(EYA4):c.88A>C (p.Met30Leu)	EYA4 (M30L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2313040	NM_004100.5(EYA4):c.89T>C (p.Met30Thr)	EYA4 (M30T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1995185	NM_004100.5(EYA4):c.89T>G (p.Met30Arg)	EYA4 (M30R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 518967	NM_004100.5(EYA4):c.89T>A (p.Met30Lys)	EYA4 (M30K)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 930000	NM_004100.5(EYA4):c.96G>A (p.Met32Ile)	EYA4 (M32I)	Single nucleotide variant (missense variant)	not specified	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)	Cardiovascular phenotype +2 more	GConflicting classifications of pathogenicity
Select item 44769	NM_004100.5(EYA4):c.103C>T (p.Leu35=)	EYA4	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2866361	NM_004100.5(EYA4):c.110G>A (p.Ser37Asn)	EYA4 (S37N)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 44770	NM_004100.5(EYA4):c.111T>C (p.Ser37=)	EYA4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
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 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 2961028	NM_004100.5(EYA4):c.121C>A (p.Leu41Ile)	EYA4 (L41I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1317006	NM_004100.5(EYA4):c.124G>C (p.Val42Leu)	EYA4 (V42L)	Single nucleotide variant (missense variant)	not provided	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 2851491	NM_004100.5(EYA4):c.136G>C (p.Asp46His)	EYA4 (D46H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	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 2090667	NM_004100.5(EYA4):c.141T>G (p.Thr47=)	EYA4	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1J	GLikely benign
Select item 647739	NM_004100.5(EYA4):c.148A>T (p.Ser50Cys)	EYA4 (S50C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J +2 more	GUncertain significance
Select item 579330	NM_004100.5(EYA4):c.152C>T (p.Ser51Phe)	EYA4 (S51F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	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 2796495	NM_004100.5(EYA4):c.155A>G (p.Lys52Arg)	EYA4 (K52R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1318897	NM_004100.5(EYA4):c.155A>C (p.Lys52Thr)	EYA4 (K52T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	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 853318	NM_004100.5(EYA4):c.158T>C (p.Leu53Pro)	EYA4 (L53P)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1776566	NM_004100.5(EYA4):c.161A>T (p.Glu54Val)	EYA4 (E54V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance

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