"Ambry Genetics"[submitter] AND "LOC126859796"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Cardiovascular phenotype +1 more	GLikely benign
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 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 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 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 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 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 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