Related gene-specific medical variations for Gene (Select 2138) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382736	NM_000503.6(EYA1):c.1699-2_1701del	EYA1	Deletion (splice acceptor variant)	Branchiootic syndrome 1 +2 more	GUncertain significance
Select item 3382302	NM_000503.6(EYA1):c.1426_1427del (p.Asp476fs)	EYA1 (D354fs +5 more)	Deletion (frameshift variant)	Branchiootorenal syndrome 1	GLikely pathogenic
Select item 3381935	NM_000503.6(EYA1):c.1141-12A>G	EYA1	Single nucleotide variant (intron variant)	Branchiootorenal syndrome 1 +1 more	GUncertain significance
Select item 3361255	NM_000503.6(EYA1):c.1437G>C (p.Leu479Phe)	EYA1 (L357F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361077	NM_000503.6(EYA1):c.1681G>C (p.Glu561Gln)	EYA1 (E439Q +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359912	NM_000503.6(EYA1):c.1575T>A (p.Asn525Lys)	EYA1 (N403K +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359783	NM_000503.6(EYA1):c.1260G>T (p.Leu420Phe)	EYA1 (L298F +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359726	NM_000503.6(EYA1):c.1289G>A (p.Trp430Ter)	EYA1 (W308* +5 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3250371	NM_000503.6(EYA1):c.1529C>T (p.Ala510Val)	EYA1 (A388V +5 more)	Single nucleotide variant (missense variant)	Otofaciocervical syndrome 1	GLikely benign
Select item 3245485	NC_000008.10:g.(?_72181955)_(72246429_?)del	EYA1	Deletion	Melnick-Fraser syndrome	GPathogenic
Select item 3063008	GRCh37/hg19 8q13.3(chr8:71676769-72133898)x3	EYA1	Copy number gain	not specified	GUncertain significance
Select item 2672207	NM_000503.6(EYA1):c.76G>A (p.Gly26Ser)	EYA1 (G26S +1 more)	Single nucleotide variant (missense variant +2 more)	Branchiootorenal syndrome 1	GUncertain significance
Select item 2442143	NM_000503.6(EYA1):c.981G>A (p.Trp327Ter)	EYA1 (W205* +6 more)	Single nucleotide variant (nonsense)	Branchiootorenal syndrome 1	GPathogenic
Select item 1344642	NM_000503.6(EYA1):c.966+1G>C	EYA1	Single nucleotide variant (splice donor variant)	Branchiooculofacial syndrome	GLikely pathogenic
Select item 930754	NM_000503.6(EYA1):c.203C>G (p.Ala68Gly)	EYA1 (A68G +1 more)	Single nucleotide variant (missense variant +1 more)	Otofaciocervical syndrome 1	GUncertain significance
Select item 930620	NM_000503.6(EYA1):c.9G>A (p.Met3Ile)	EYA1 (M32I +1 more)	Single nucleotide variant (missense variant +1 more)	Otofaciocervical syndrome 1	GUncertain significance
Select item 815136	GRCh37/hg19 8q13.3(chr8:71816154-72197709)x1	EYA1	Copy number loss	not provided	GLikely pathogenic
Select item 562430	NM_000503.6(EYA1):c.640G>A (p.Asp214Asn)	EYA1 (D214N +5 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 562388	NM_000503.6(EYA1):c.1597G>C (p.Gly533Arg)	EYA1 (G533R +4 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 562334	NM_000503.6(EYA1):c.1597+1G>A	EYA1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 562332	NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)	EYA1 (C495S +4 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 402126	GRCh37/hg19 8q13.3(chr8:72211317-72226125)x1	EYA1	Copy number loss	See cases	GPathogenic
Select item 161468	NM_000503.6(EYA1):c.1107G>T (p.Leu369Phe)	EYA1 (L369F +3 more)	Single nucleotide variant (missense variant +1 more)	Malignant tumor of prostate	GUncertain significance
Select item 7933	NG_011735.4:g.308479_308480insAlu308464_308481dup	EYA1	Insertion	Branchiootorenal syndrome 1	GPathogenic

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Links from Gene

Items: 24