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Links from MedGen

Items: 94

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
EYA1
(R451S +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
GUncertain significance
EYA1
(G26S +1 more)
Single nucleotide variant
(missense variant +2 more)
Branchiootorenal syndrome 1
GUncertain significance
EYA1
(W205* +6 more)
Single nucleotide variant
(nonsense)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(C415* +5 more)
Single nucleotide variant
(nonsense)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(Q141* +6 more)
Single nucleotide variant
(nonsense)
Branchiootorenal syndrome 1
GLikely pathogenic
EYA1
(W205R +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
GLikely pathogenic
EYA1
Single nucleotide variant
(intron variant)
Branchiootorenal syndrome 1
+3 more
GLikely benign
EYA1
Single nucleotide variant
(synonymous variant +1 more)
Branchiootic syndrome 1
+3 more
GLikely benign
EYA1
Single nucleotide variant
(synonymous variant)
EYA1-related condition
+4 more
GLikely benign
EYA1
(K320R +4 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
GUncertain significance
EYA1
(V374fs +4 more)
Microsatellite
(frameshift variant)
Melnick-Fraser syndrome
+3 more
GPathogenic
EYA1
(Q259* +5 more)
Single nucleotide variant
(nonsense)
Melnick-Fraser syndrome
+1 more
GPathogenic/Likely pathogenic
EYA1
(R327C +5 more)
Single nucleotide variant
(missense variant)
Melnick-Fraser syndrome
+3 more
GConflicting classifications of pathogenicity
EYA1
(I96V +3 more)
Single nucleotide variant
(missense variant +1 more)
Melnick-Fraser syndrome
+3 more
GUncertain significance
EYA1
Single nucleotide variant
(intron variant)
Melnick-Fraser syndrome
+3 more
GUncertain significance
EYA1
(R370Q +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SIX1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 3
+4 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
not provided
GLikely pathogenic
EYA1
Single nucleotide variant
(intron variant)
Branchiootic syndrome 1
+4 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
Branchiootorenal syndrome 1
+3 more
GBenign
EYA1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
EYA1
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
EYA1
Single nucleotide variant
(intron variant)
Branchiootic syndrome 1
+3 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
Melnick-Fraser syndrome
+4 more
GLikely benign
EYA1
(L298fs +4 more)
Deletion
(frameshift variant)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(N188fs +5 more)
Deletion
(frameshift variant)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(F113L +3 more)
Single nucleotide variant
(missense variant +1 more)
Branchiootorenal syndrome 1
GUncertain significance
EYA1
(Y306C +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
+3 more
GUncertain significance
EYA1
(N260S +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
+3 more
GUncertain significance
EYA1
(Y432F +4 more)
Single nucleotide variant
(missense variant)
Melnick-Fraser syndrome
+4 more
GUncertain significance
EYA1
Single nucleotide variant
(intron variant)
Branchiootic syndrome 1
+2 more
GUncertain significance
EYA1
(R172* +5 more)
Single nucleotide variant
(nonsense)
Melnick-Fraser syndrome
+3 more
GPathogenic
EYA1
Deletion
Melnick-Fraser syndrome
+1 more
GPathogenic
EYA1
Deletion
Melnick-Fraser syndrome
+1 more
GPathogenic
EYA1
Deletion
Branchiootorenal syndrome 1
+1 more
GPathogenic
EYA1
(S245fs +5 more)
Insertion
(frameshift variant)
Branchiootorenal syndrome 1
GLikely pathogenic
EYA1
(D208Y +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
GUncertain significance
EYA1
(S365* +4 more)
Single nucleotide variant
(nonsense)
Melnick-Fraser syndrome
GPathogenic
EYA1
(S17G +1 more)
Single nucleotide variant
(missense variant +1 more)
Melnick-Fraser syndrome
+4 more
GConflicting classifications of pathogenicity
EYA1
(Y249* +5 more)
Single nucleotide variant
(nonsense)
Branchiootorenal syndrome 1
GPathogenic
EYA1
Single nucleotide variant
(synonymous variant)
Branchiootorenal syndrome 1
GLikely benign
EYA1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 1
+3 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+2 more
GLikely benign
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+2 more
GLikely benign
EYA1
Single nucleotide variant
(synonymous variant +1 more)
Melnick-Fraser syndrome
+4 more
GBenign/Likely benign
EYA1
(P9L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
EYA1, LOC130000578
+4 more
Deletion
Melnick-Fraser syndrome
+1 more
GPathogenic
EYA1
(Q228* +5 more)
Single nucleotide variant
(nonsense)
Branchiootorenal syndrome 1
+1 more
GPathogenic
EYA1
Single nucleotide variant
(splice donor variant)
Branchiootic syndrome 1
+2 more
GLikely pathogenic
EYA1
(A508V +4 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
GUncertain significance
EYA1, LOC130000578
+3 more
Deletion
Branchiootorenal syndrome 1
+1 more
GPathogenic
EYA1
(Y348* +5 more)
Single nucleotide variant
(nonsense)
Branchiootorenal syndrome 1
+1 more
GPathogenic/Likely pathogenic
SIX1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 23
+4 more
GLikely benign
EYA1
(R77* +1 more)
Single nucleotide variant
(nonsense +1 more)
Branchiootic syndrome 1
+4 more
GPathogenic/Likely pathogenic
EYA1
(T79A +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GUncertain significance
EYA1
(L164P +5 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
+5 more
GUncertain significance
EYA1
(R297* +5 more)
Single nucleotide variant
(nonsense)
Melnick-Fraser syndrome
+5 more
GPathogenic
EYA1
(E539* +4 more)
Single nucleotide variant
(nonsense)
Branchiootic syndrome 1
+2 more
GLikely pathogenic
EYA1
(R308Q +5 more)
Single nucleotide variant
(missense variant)
Melnick-Fraser syndrome
+3 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
not provided
+5 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(3 prime UTR variant)
Otofaciocervical syndrome 1
+2 more
GUncertain significance
EYA1
(A22S)
Single nucleotide variant
(5 prime UTR variant +1 more)
Branchiootic syndrome 1
+3 more
GUncertain significance
EYA1
(D476N +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
EYA1
(R440W +4 more)
Single nucleotide variant
(missense variant)
Branchiootic syndrome 1
+3 more
GUncertain significance
EYA1
Single nucleotide variant
(synonymous variant)
Branchiootic syndrome 1
+5 more
GBenign/Likely benign
SIX1
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
Branchiootic syndrome 1
+4 more
GBenign/Likely benign
EYA1
(G135S +4 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
EYA1
(G224V +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
EYA1
(Q183R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
EYA1
(T55M +1 more)
Single nucleotide variant
(missense variant +1 more)
Melnick-Fraser syndrome
+4 more
GConflicting classifications of pathogenicity
EYA1
(G22D +1 more)
Single nucleotide variant
(missense variant +1 more)
Melnick-Fraser syndrome
+4 more
GConflicting classifications of pathogenicity
EYA1
(T36I +1 more)
Single nucleotide variant
(missense variant +1 more)
EYA1-related condition
+7 more
GConflicting classifications of pathogenicity
EYA1
Single nucleotide variant
(synonymous variant)
EYA1-related condition
+6 more
GBenign/Likely benign
EYA1
Single nucleotide variant
(intron variant)
Melnick-Fraser syndrome
+5 more
GBenign/Likely benign
EYA1
(G396R +4 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
+3 more
GUncertain significance
EYA1
Single nucleotide variant
(splice donor variant)
Branchiootorenal syndrome 1
+3 more
GPathogenic
EYA1
Single nucleotide variant
(synonymous variant)
Melnick-Fraser syndrome
+5 more
GBenign
EYA1
Single nucleotide variant
(synonymous variant)
Melnick-Fraser syndrome
+5 more
GBenign
EYA1
(L583P +4 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+4 more
GLikely pathogenic
EYA1
Single nucleotide variant
(synonymous variant)
Melnick-Fraser syndrome
+5 more
GBenign/Likely benign
SIX1
(Y129C)
Single nucleotide variant
(missense variant)
SIX1-related condition
+4 more
GPathogenic/Likely pathogenic
EYA1
Single nucleotide variant
(intron variant)
Melnick-Fraser syndrome
+2 more
GPathogenic
EYA1
(R361* +3 more)
Single nucleotide variant
(nonsense +1 more)
Melnick-Fraser syndrome
+3 more
GPathogenic
EYA1
(L505R +4 more)
Single nucleotide variant
(missense variant)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(S487P +4 more)
Single nucleotide variant
(missense variant)
Melnick-Fraser syndrome
GPathogenic
EYA1
(L158fs +5 more)
Duplication
(frameshift variant)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(G426S +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
EYA1
(R440Q +4 more)
Single nucleotide variant
(missense variant)
Rare genetic deafness
+2 more
GPathogenic/Likely pathogenic
EYA1
(K558fs +4 more)
Deletion
(frameshift variant)
Branchiootorenal syndrome 1
GPathogenic
EYA1
Insertion
Branchiootorenal syndrome 1
GPathogenic
EYA1
(N329fs +4 more)
Indel
(frameshift variant)
Branchiootorenal syndrome 1
GPathogenic
EYA1
(R308* +5 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic
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