LOC126859796[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +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 1296321	NM_004100.5(EYA4):c.1192-96T>C	EYA4, LOC126859796 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
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 2084244	NM_004100.5(EYA4):c.1192-20T>C	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	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 1573183	NM_004100.5(EYA4):c.1192-13A>G	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 950090	NM_004100.5(EYA4):c.1192-3C>T	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1677606	NM_004100.5(EYA4):c.1192G>T (p.Asp398Tyr)	EYA4, LOC126859796 +1 more (D344Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1912473	NM_004100.5(EYA4):c.1195C>T (p.Pro399Ser)	EYA4, LOC126859796 +1 more (P376S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1746071	NM_004100.5(EYA4):c.1196C>T (p.Pro399Leu)	EYA4, LOC126859796 +1 more (P351L +4 more)	Single nucleotide variant (missense variant +1 more)	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 1618028	NM_004100.5(EYA4):c.1197C>A (p.Pro399=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GLikely benign
Select item 465982	NM_004100.5(EYA4):c.1197C>T (p.Pro399=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GLikely benign
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 1748474	NM_004100.5(EYA4):c.1204G>T (p.Ala402Ser)	EYA4, LOC126859796 +1 more (A348S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype +1 more	GUncertain significance
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 1133816	NM_004100.5(EYA4):c.1212C>A (p.Thr404=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GLikely benign
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 1753178	NM_004100.5(EYA4):c.1221C>T (p.Leu407=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Cardiovascular phenotype	GLikely benign
Select item 572508	NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs)	EYA4, LOC126859796 +1 more (R354fs +4 more)	Deletion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1010574	NM_004100.5(EYA4):c.1222C>T (p.Arg408Cys)	EYA4, LOC126859796 +1 more (R360C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 228680	NM_004100.5(EYA4):c.1223G>A (p.Arg408His)	EYA4, LOC126859796 +1 more (R408H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +4 more	GUncertain significance
Select item 1712119	NM_004100.5(EYA4):c.1226T>G (p.Met409Arg)	EYA4, LOC126859796 +1 more (M355R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1469153	NM_004100.5(EYA4):c.1231G>A (p.Glu411Lys)	EYA4, LOC126859796 +1 more (E363K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 566398	NM_004100.5(EYA4):c.1234A>T (p.Met412Leu)	EYA4, LOC126859796 +1 more (M412L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	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 852031	NM_004100.5(EYA4):c.1241T>C (p.Phe414Ser)	EYA4, LOC126859796 +1 more (F414S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1716723	NM_004100.5(EYA4):c.1243A>C (p.Asn415His)	EYA4, LOC126859796 +1 more (N361H +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 2005651	NM_004100.5(EYA4):c.1245T>C (p.Asn415=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
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 1997293	NM_004100.5(EYA4):c.1249G>T (p.Ala417Ser)	EYA4, LOC126859796 +1 more (A369S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1430799	NM_004100.5(EYA4):c.1253A>G (p.Asp418Gly)	EYA4, LOC126859796 +1 more (D364G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 1410820	NM_004100.5(EYA4):c.1259A>G (p.His420Arg)	EYA4, LOC126859796 +1 more (H366R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GUncertain significance
Select item 1538338	NM_004100.5(EYA4):c.1260T>C (p.His420=)	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1693092	NM_004100.5(EYA4):c.1261T>G (p.Leu421Val)	EYA4, LOC126859796 +1 more (L367V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GUncertain significance
Select item 665297	NM_004100.5(EYA4):c.1263G>T (p.Leu421Phe)	EYA4, LOC126859796 +1 more (L421F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	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 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 1531084	NM_004100.5(EYA4):c.1281+17G>A	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1548727	NM_004100.5(EYA4):c.1281+20C>T	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GBenign
Select item 1389658	NM_004100.5(EYA4):c.1281+20_1281+21inv	EYA4, LOC126859796 +1 more	Inversion (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J	GLikely benign
Select item 1262043	NM_004100.5(EYA4):c.1281+21A>G	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Dilated cardiomyopathy 1J +1 more	GBenign
Select item 1205373	NM_004100.5(EYA4):c.1281+23A>G	EYA4, LOC126859796 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

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Items: 44