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Links from MedGen

Items: 1 to 100 of 250

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
Autosomal recessive nonsyndromic hearing loss 23
GPathogenic
PCDH15
(Q1245* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(A1023fs +6 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(I169fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(V68fs +2 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
LOC105378311, PCDH15
(I43fs +1 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(V234fs +3 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
Single nucleotide variant
(splice donor variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(Q202* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(I615fs +5 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(A827D +6 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PCDH15
(E1261fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GPathogenic/Likely pathogenic
PCDH15
(I556fs +5 more)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCDH15
(Q379* +3 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GPathogenic/Likely pathogenic
PCDH15
(Q1401* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GPathogenic/Likely pathogenic
PCDH15
(A543fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(Y131fs +2 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(I1180fs +6 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(V1036fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(H726fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(Y440* +5 more)
Duplication
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(K102fs +2 more)
Indel
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(H302fs +3 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(A1305fs +6 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(L1259fs +6 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Duplication
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(E1013* +6 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PCDH15
(A269fs +3 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(C1338* +8 more)
Duplication
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(E715* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(A543fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(Y903* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(K1257* +6 more)
Duplication
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(N559fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice donor variant +1 more)
not provided
GLikely pathogenic
PCDH15
(Y542* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(P836fs +6 more)
Insertion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(F646fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PCDH15
(I396fs +3 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(Y6*)
Duplication
(nonsense)
not provided
GPathogenic
PCDH15
(M536fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(T1135fs +6 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(R1295fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(G778fs +6 more)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Deletion
(nonsense)
not provided
GPathogenic
PCDH15
(Y440* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(R540fs +5 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PCDH15
(K1096* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(I15fs)
Deletion
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(Q817* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(F1258fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(K857* +6 more)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(P873fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(P577fs +5 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
Gno classifications from unflagged records
PCDH15
(P371L +3 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(F1621fs +1 more)
Duplication
(frameshift variant +2 more)
Autosomal recessive nonsyndromic hearing loss 23
GPathogenic
PCDH15
Single nucleotide variant
(splice donor variant)
Usher syndrome type 1F
GLikely pathogenic
PCDH15
(S585fs +5 more)
Microsatellite
(frameshift variant +1 more)
Usher syndrome type 1F
+1 more
GPathogenic
PCDH15
(I1167fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PCDH15
(L641V +5 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
GUncertain significance
PCDH15
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GLikely pathogenic
PCDH15
Microsatellite
(frameshift variant)
Usher syndrome type 1F
+1 more
GPathogenic
LOC105378311, PCDH15
Deletion
(splice donor variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
GUncertain significance
PCDH15
(A879fs +6 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
GPathogenic
PCDH15
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PCDH15
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
PCDH15
Single nucleotide variant
(splice donor variant)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GLikely pathogenic
PCDH15
(Q467* +5 more)
Single nucleotide variant
(nonsense)
not provided
+3 more
GPathogenic/Likely pathogenic
PCDH15
Duplication
(nonsense)
not provided
GPathogenic
PCDH15
(L840* +6 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
PCDH15
(D655fs +6 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PCDH15
(Q1391K +8 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1F
+3 more
GUncertain significance
PCDH15
(Y903fs +6 more)
Deletion
(frameshift variant)
not provided
GPathogenic
PCDH15
(G1381fs +8 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GPathogenic/Likely pathogenic
PCDH15
(S122fs +2 more)
Duplication
(frameshift variant)
Usher syndrome type 1F
+1 more
GPathogenic
PCDH15
Microsatellite
(inframe_deletion +1 more)
Usher syndrome type 1D
+3 more
GUncertain significance
PCDH15
(D117E +2 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(S1595fs +4 more)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 23
+2 more
GUncertain significance
PCDH15
(Q1395fs +8 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
GLikely pathogenic
PCDH15
(L1823F +8 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GUncertain significance
PCDH15
(Q1207K +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GUncertain significance
PCDH15
(P1711R +8 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GUncertain significance
PCDH15
(G1012A +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GUncertain significance
PCDH15
(K1332R +5 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
+2 more
GUncertain significance
PCDH15
(T627I +6 more)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 23
+2 more
GUncertain significance
PCDH15
(T264M +3 more)
Single nucleotide variant
(missense variant)
Usher syndrome type 1F
+2 more
GUncertain significance
PCDH15
(V594F +5 more)
Single nucleotide variant
(intron variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GUncertain significance
PCDH15
(R578C +5 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal recessive nonsyndromic hearing loss 23
+2 more
GUncertain significance
PCDH15
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 23
+1 more
GUncertain significance
PCDH15
Duplication
(3 prime UTR variant +1 more)
not provided
+3 more
GLikely benign
PCDH15
(D712fs +6 more)
Deletion
(frameshift variant)
not provided
+1 more
GLikely pathogenic
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