"EYA1-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1235030	NM_000503.6(EYA1):c.*9G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 2633645	NM_000503.6(EYA1):c.1771T>A (p.Tyr591Asn)	EYA1 (Y469N +5 more)	Single nucleotide variant (missense variant)	EYA1-related disorder	GUncertain significance
Select item 2724964	NM_000503.6(EYA1):c.1704G>A (p.Ala568=)	EYA1	Single nucleotide variant (synonymous variant)	EYA1-related disorder +1 more	GLikely benign
Select item 1530594	NM_000503.6(EYA1):c.1530G>A (p.Ala510=)	EYA1	Single nucleotide variant (synonymous variant)	EYA1-related disorder +4 more	GLikely benign
Select item 2717551	NM_000503.6(EYA1):c.1475+6del	EYA1	Deletion (intron variant)	EYA1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 228678	NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)	EYA1 (S487L +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +5 more	GConflicting classifications of pathogenicity
Select item 2735182	NM_000503.6(EYA1):c.1360+5G>A	EYA1	Single nucleotide variant (intron variant)	EYA1-related disorder +1 more	GPathogenic
Select item 1567358	NM_000503.6(EYA1):c.1199+8C>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +1 more	GLikely benign
Select item 2635802	NM_000503.6(EYA1):c.1082G>A (p.Arg361Gln)	EYA1 (R239Q +4 more)	Single nucleotide variant (missense variant +1 more)	EYA1-related disorder	GUncertain significance
Select item 2442529	NM_000503.6(EYA1):c.971T>C (p.Val324Ala)	EYA1 (V202A +6 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 7929	NM_000503.6(EYA1):c.922C>T (p.Arg308Ter)	EYA1 (R308* +5 more)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic
Select item 3047986	NM_000503.6(EYA1):c.911G>A (p.Arg304His)	EYA1 (R182H +6 more)	Single nucleotide variant (missense variant)	EYA1-related disorder	GUncertain significance
Select item 363653	NM_000503.6(EYA1):c.890G>A (p.Arg297Gln)	EYA1 (R297Q +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 429912	NM_000503.6(EYA1):c.889C>T (p.Arg297Ter)	EYA1 (R297* +5 more)	Single nucleotide variant (nonsense)	Melnick-Fraser syndrome +5 more	GPathogenic
Select item 788870	NM_000503.6(EYA1):c.884T>C (p.Leu295Ser)	EYA1 (L318S +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 163435	NM_000503.6(EYA1):c.840C>A (p.Ile280=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootic syndrome 1 +6 more	GBenign/Likely benign
Select item 2632157	NM_000503.6(EYA1):c.838A>C (p.Ile280Leu)	EYA1 (I158L +6 more)	Single nucleotide variant (missense variant)	EYA1-related disorder	GUncertain significance
Select item 2637231	NM_000503.6(EYA1):c.717T>G (p.Tyr239Ter)	EYA1 (Y117* +6 more)	Single nucleotide variant (nonsense)	EYA1-related disorder	GPathogenic
Select item 1699694	NM_000503.6(EYA1):c.701C>T (p.Pro234Leu)	EYA1 (P112L +5 more)	Single nucleotide variant (missense variant)	EYA1-related disorder +1 more	GUncertain significance
Select item 1200303	NM_000503.6(EYA1):c.678C>T (p.Tyr226=)	EYA1	Single nucleotide variant (synonymous variant)	EYA1-related disorder +1 more	GLikely benign
Select item 597222	NM_000503.6(EYA1):c.602C>G (p.Ser201Ter)	EYA1 (S201* +5 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 3057474	NM_000503.6(EYA1):c.339G>A (p.Gln113=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	EYA1-related disorder	GLikely benign
Select item 363661	NM_000503.6(EYA1):c.325T>C (p.Tyr109His)	EYA1 (Y109H +3 more)	Single nucleotide variant (missense variant +1 more)	EYA1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 179232	NM_000503.6(EYA1):c.299C>A (p.Thr100Asn)	EYA1 (T100N +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2633337	NM_000503.6(EYA1):c.133_149del (p.Thr44_Glu45insTer)	EYA1	Deletion (nonsense +1 more)	EYA1-related disorder	GUncertain significance
Select item 163440	NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)	EYA1 (T36I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 667048	NM_000503.6(EYA1):c.35G>A (p.Arg12His)	EYA1 (R41H +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 27