"Fulgent Genetics, Fulgent Genetics"[submitter] AND "EYA1"[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363644	NM_000503.6(EYA1):c.*117G>A	EYA1	Single nucleotide variant (3 prime UTR variant)	Otofaciocervical syndrome 1 +2 more	GUncertain significance
Select item 48106	NM_000503.6(EYA1):c.1748T>C (p.Leu583Pro)	EYA1 (L583P +4 more)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GLikely pathogenic
Select item 226638	NM_000503.6(EYA1):c.1598-15A>G	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +4 more	GBenign/Likely benign
Select item 1284938	NM_000503.6(EYA1):c.1597+18T>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +4 more	GBenign/Likely benign
Select item 562334	NM_000503.6(EYA1):c.1597+1G>A	EYA1	Single nucleotide variant (splice donor variant)	Branchiootic syndrome 1 +2 more	GLikely pathogenic
Select item 1530594	NM_000503.6(EYA1):c.1530G>A (p.Ala510=)	EYA1	Single nucleotide variant (synonymous variant)	Branchiootorenal syndrome 1 +3 more	GLikely benign
Select item 1459746	NM_000503.6(EYA1):c.1487_1488del (p.Val496fs)	EYA1 (V374fs +4 more)	Microsatellite (frameshift variant)	Melnick-Fraser syndrome +3 more	GPathogenic
Select item 163427	NM_000503.6(EYA1):c.1475+1G>C	EYA1	Single nucleotide variant (splice donor variant)	Branchiootorenal syndrome 1 +3 more	GPathogenic
Select item 228677	NM_000503.6(EYA1):c.1426G>A (p.Asp476Asn)	EYA1 (D476N +4 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 227367	NM_000503.6(EYA1):c.1377T>A (p.Ala459=)	EYA1	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 228676	NM_000503.6(EYA1):c.1318C>T (p.Arg440Trp)	EYA1 (R440W +4 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +3 more	GUncertain significance
Select item 910434	NM_000503.6(EYA1):c.1313A>T (p.Tyr438Phe)	EYA1 (Y432F +4 more)	Single nucleotide variant (missense variant)	Melnick-Fraser syndrome +5 more	GUncertain significance
Select item 363650	NM_000503.6(EYA1):c.1200-11C>A	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +5 more	GBenign/Likely benign
Select item 163433	NM_000503.6(EYA1):c.1186G>A (p.Gly396Arg)	EYA1 (G396R +4 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 48100	NM_000503.6(EYA1):c.1185C>T (p.Asn395=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign/Likely benign
Select item 163434	NM_000503.6(EYA1):c.1141-15T>G	EYA1	Single nucleotide variant (intron variant)	not provided +5 more	GBenign/Likely benign
Select item 1590419	NM_000503.6(EYA1):c.1140+11A>T	EYA1	Single nucleotide variant (intron variant)	Melnick-Fraser syndrome +3 more	GLikely benign
Select item 363651	NM_000503.6(EYA1):c.966+4C>T	EYA1	Single nucleotide variant (intron variant)	Otofaciocervical syndrome 1 +5 more	GBenign/Likely benign
Select item 363652	NM_000503.6(EYA1):c.923G>A (p.Arg308Gln)	EYA1 (R308Q +5 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +3 more	GBenign/Likely benign
Select item 1446417	NM_000503.6(EYA1):c.910C>T (p.Arg304Cys)	EYA1 (R327C +5 more)	Single nucleotide variant (missense variant)	Branchiootic syndrome 1 +3 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)	EYA1-related disorder +5 more	GPathogenic
Select item 163435	NM_000503.6(EYA1):c.840C>A (p.Ile280=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +5 more	GBenign/Likely benign
Select item 930025	NM_000503.6(EYA1):c.830A>G (p.Tyr277Cys)	EYA1 (Y306C +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 909567	NM_000503.6(EYA1):c.827-8T>A	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +2 more	GUncertain significance
Select item 929999	NM_000503.6(EYA1):c.692A>G (p.Asn231Ser)	EYA1 (N260S +5 more)	Single nucleotide variant (missense variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 1229081	NM_000503.6(EYA1):c.639+17G>C	EYA1	Single nucleotide variant (intron variant)	Branchiootic syndrome 1 +3 more	GBenign/Likely benign
Select item 198425	NM_000503.6(EYA1):c.548A>G (p.Gln183Arg)	EYA1 (Q183R +5 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 444758	NM_000503.6(EYA1):c.491T>C (p.Leu164Pro)	EYA1 (L164P +5 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 772497	NM_000503.6(EYA1):c.399G>A (p.Pro133=)	EYA1	Single nucleotide variant (synonymous variant)	Melnick-Fraser syndrome +3 more	GLikely benign
Select item 697785	NM_000503.6(EYA1):c.321T>C (p.Ala107=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Otofaciocervical syndrome 1 +4 more	GBenign/Likely benign
Select item 1400600	NM_000503.6(EYA1):c.289A>G (p.Ile97Val)	EYA1 (I96V +3 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +3 more	GUncertain significance
Select item 1389408	NM_000503.6(EYA1):c.273-3T>C	EYA1	Single nucleotide variant (intron variant)	Branchiootorenal syndrome 1 +3 more	GUncertain significance
Select item 452501	NM_000503.6(EYA1):c.235A>G (p.Thr79Ala)	EYA1 (T79A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 459254	NM_000503.6(EYA1):c.229C>T (p.Arg77Ter)	EYA1 (R77* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 1540144	NM_000503.6(EYA1):c.165G>A (p.Thr55=)	EYA1	Single nucleotide variant (synonymous variant +1 more)	Melnick-Fraser syndrome +3 more	GLikely benign
Select item 1187931	NM_000503.6(EYA1):c.125-13T>C	EYA1	Single nucleotide variant (intron variant)	not provided +4 more	GLikely benign
Select item 163440	NM_000503.6(EYA1):c.107C>T (p.Thr36Ile)	EYA1 (T36I +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +6 more	GConflicting classifications of pathogenicity
Select item 163441	NM_000503.6(EYA1):c.65G>A (p.Gly22Asp)	EYA1 (G22D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 810294	NM_000503.6(EYA1):c.49A>G (p.Ser17Gly)	EYA1 (S17G +1 more)	Single nucleotide variant (missense variant +1 more)	Melnick-Fraser syndrome +4 more	GConflicting classifications of pathogenicity
Select item 624333	NM_000503.6(EYA1):c.26C>T (p.Pro9Leu)	EYA1 (P9L +1 more)	Single nucleotide variant (missense variant +1 more)	Branchiootic syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 228679	NM_000503.6(EYA1):c.-24G>T	EYA1 (A22S)	Single nucleotide variant (5 prime UTR variant +1 more)	Branchiootic syndrome 1 +3 more	GUncertain significance

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Items: 41