ClinVar for PubMed (Select 25781927) - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2825147	NM_004100.5(EYA4):c.1416_1417del (p.Gly473fs)	EYA4, TARID (G479fs +4 more)	Microsatellite (frameshift variant)	Dilated cardiomyopathy 1J	GPathogenic
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 2743050	NM_004100.5(EYA4):c.211G>T (p.Glu71Ter)	EYA4 (E71*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2126137	NM_004100.5(EYA4):c.1472del (p.Leu491fs)	EYA4, TARID (L497fs +4 more)	Deletion (frameshift variant)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2112319	NM_004100.5(EYA4):c.1574G>A (p.Trp525Ter)	EYA4, TARID (W471* +4 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2102688	NM_004100.5(EYA4):c.1291C>T (p.Gln431Ter)	EYA4, TARID (Q377* +4 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 2101519	NM_004100.5(EYA4):c.371-2A>G	EYA4	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 2014972	NM_004100.5(EYA4):c.370+1G>T	EYA4	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 1965243	NM_004100.5(EYA4):c.242G>A (p.Trp81Ter)	EYA4 (W81*)	Single nucleotide variant (nonsense +1 more)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1916328	NM_004100.5(EYA4):c.223_224del (p.Val75fs)	EYA4 (V75fs)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1896684	NM_004100.5(EYA4):c.61del (p.Val21fs)	EYA4 (V21fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1510215	NM_004100.5(EYA4):c.970+1G>A	EYA4 (G324D +1 more)	Single nucleotide variant (splice donor variant +1 more)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 1465552	NM_004100.5(EYA4):c.971-2A>G	EYA4	Single nucleotide variant (splice acceptor variant)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 1419206	NM_004100.5(EYA4):c.67C>T (p.Gln23Ter)	EYA4 (Q23*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1380128	NM_004100.5(EYA4):c.832C>T (p.Gln278Ter)	EYA4 (Q224* +2 more)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1J	GPathogenic
Select item 1066753	NM_004100.5(EYA4):c.209-1G>A	EYA4	Single nucleotide variant (splice acceptor variant +1 more)	Dilated cardiomyopathy 1J	GLikely pathogenic
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 1065975	NM_004100.5(EYA4):c.970+1G>T	EYA4 (G270V +1 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1J	GLikely pathogenic
Select item 623134	NM_004100.5(EYA4):c.1347C>G (p.Tyr449Ter)	EYA4, TARID (Y449* +4 more)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 10	GLikely pathogenic
Select item 572508	NM_004100.5(EYA4):c.1221_1225del (p.Arg408fs)	EYA4, LOC126859796 +1 more (R354fs +4 more)	Deletion (frameshift variant +1 more)	Dilated cardiomyopathy 1J	GPathogenic
Select item 523780	NM_004100.5(EYA4):c.1759C>T (p.Arg587Ter)	EYA4, TARID (R587* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 499485	NM_004100.5(EYA4):c.1341-2A>G	EYA4, TARID	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 208577	NM_004100.5(EYA4):c.1739-1G>A	EYA4, TARID	Single nucleotide variant (splice acceptor variant +1 more)	Dilated cardiomyopathy 1J +3 more	GLikely pathogenic
Select item 191663	NM_004100.5(EYA4):c.978C>G (p.Phe326Leu)	EYA4 (F326L +4 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 10 +3 more	GUncertain significance

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Items: 25