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Links from MedGen

Items: 1 to 100 of 1654

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
GUncertain significance
MYO7A
(K912fs +1 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
MYO7A
(V1262M +4 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GUncertain significance
MYO7A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(E904* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(E439* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K686* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(N752fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K1678* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Y647* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(E501* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(A891fs +1 more)
Insertion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(L702fs +1 more)
Insertion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q537* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(N190fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q798* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(P633fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q2070* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(L517fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q741fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
+1 more
GPathogenic/Likely pathogenic
MYO7A
(K682fs +1 more)
Indel
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(I83fs +1 more)
Duplication
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(S172* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K1710* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K2086* +2 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(F936fs +1 more)
Insertion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(E916fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Q695fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K1444* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(R803fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(L848fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(L1249* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Y245fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K1000* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K402* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(V17fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(K257* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(E872fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
CDH23
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
+1 more
GLikely pathogenic
CDH23
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1
+2 more
GLikely pathogenic
MYO7A
(E591fs +1 more)
Deletion
(frameshift variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
Single nucleotide variant
(splice acceptor variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(E1392* +1 more)
Single nucleotide variant
(nonsense)
Usher syndrome type 1
GPathogenic
MYO7A
(P1702L +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GUncertain significance
MYO7A
(Q255* +1 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
(T1792M +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+4 more
GUncertain significance
MYO7A
(L190W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
MYO7A
(W2028fs +2 more)
Duplication
(frameshift variant)
Usher syndrome type 1
GPathogenic
MYO7A
(P2077fs +2 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic
MYO7A
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
(Y1966C +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GUncertain significance
MYO7A
(R884C +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
USH1C
(R598H)
Single nucleotide variant
(missense variant +1 more)
Usher syndrome type 1C
+3 more
GUncertain significance
MYO7A
(T1071M +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GUncertain significance
MYO7A
(E1868K +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 11
+3 more
GUncertain significance
CDH23
(R1060Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C10orf105, CDH23
(E1274K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH23
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MYO7A
(R922C +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
MYO7A
(T2106I +2 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GUncertain significance
MYO7A
(P1209A +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
MYO7A
(T51M +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(G1211S +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
MYO7A
(I546V +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
(H790P +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+2 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CDH23
(R2809H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CDH23
(R2029Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MYO7A
(Y549C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
+1 more
GPathogenic/Likely pathogenic
MYO7A
(Q1609* +2 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
Usher syndrome type 1
+2 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign/Likely benign
MYO7A
Single nucleotide variant
(intron variant)
not provided
+3 more
GBenign
MYO7A
(R1975P +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MYO7A
(Y245C +1 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1
GLikely pathogenic
MYO7A
Single nucleotide variant
(intron variant)
Autosomal recessive nonsyndromic hearing loss 2
+3 more
GBenign/Likely benign
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CDH23
(T670S)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MYO7A
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
CDH23
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C10orf105, CDH23
Single nucleotide variant
(splice donor variant +1 more)
Pituitary adenoma 5, multiple types
+1 more
GLikely pathogenic
LOC111982869, CDH23
Single nucleotide variant
(splice donor variant)
Usher syndrome
+1 more
GLikely pathogenic
MYO7A
(M1309V +1 more)
Single nucleotide variant
(missense variant)
Hearing impairment
+3 more
GUncertain significance
CDH23
(R414Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(T1014A +4 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C10orf105, CDH23
(V1175M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
CDH23
(R1580H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(T696A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(V1997M)
Single nucleotide variant
(missense variant)
Stickler syndrome
+1 more
GUncertain significance
CDH23
(L3098F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(G2047R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CDH23
(E3176K +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
CDH23
(M790V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
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