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Links from MedGen

Items: 1 to 100 of 659

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCA3, BRICD5
+39 more
Duplication
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
AMDHD2, ATP6V0C
+26 more
Deletion
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(H195Q)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(A465S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(V199A)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(V96M)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(P460A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(G165C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(Y517C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(E462* +1 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(P451S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(V323M)
Single nucleotide variant
(missense variant +1 more)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(S281Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(Y6H)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(A113fs)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
(Q430* +1 more)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(S264N)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(L368V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(C180R)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(V542L +1 more)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(F95L)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant +1 more)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(L240R)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(Y144H)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(A479V +1 more)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(C180*)
Single nucleotide variant
(nonsense)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(Y104fs)
Duplication
(frameshift variant)
Developmental and epileptic encephalopathy, 1
+2 more
GPathogenic
TBC1D24
(R60P)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(S264G)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TBC1D24
(I77F)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(V96L)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(K116N)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(R360fs +1 more)
Deletion
(frameshift variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(G513D +1 more)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(G503E +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(R409K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(K448E +1 more)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(P164S)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(F433L +1 more)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(Q100R)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(R40P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(D513N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GLikely benign
TBC1D24
(R297L)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GUncertain significance
TBC1D24
(T404A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(Y237C)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(T453I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(G422R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(I390M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
(P126S)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(splice donor variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely pathogenic
TBC1D24
(I518V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(D163Y)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(L467F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(splice donor variant)
Developmental and epileptic encephalopathy, 1
+3 more
GLikely pathogenic
TBC1D24
(D70E)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TBC1D24
(I62V)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+3 more
GUncertain significance
TBC1D24
Duplication
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(H481Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
GUncertain significance
TBC1D24
(T99M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBC1D24
(K249M)
Single nucleotide variant
(missense variant)
Caused by mutation in the TBC1 domain family, member 24
+2 more
GUncertain significance
TBC1D24
(V331I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TBC1D24
(E359K +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GUncertain significance
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
TBC1D24
(W44*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GPathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
(A494G +1 more)
Single nucleotide variant
(missense variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely pathogenic
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Developmental and epileptic encephalopathy, 1
+2 more
GLikely benign
TBC1D24
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 65
+2 more
GLikely benign
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