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Items: 1 to 100 of 378

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929733, LOC129929734
+1145 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+1226 more
Inversion
Bilateral polymicrogyria
GLikely pathogenic
AKIRIN1, BMP8A
+268 more
Copy number loss
See cases
GPathogenic
BMP8A, BMP8B
+129 more
Copy number gain
See cases
GPathogenic
ARTN, ATP6V0B
+279 more
Copy number loss
See cases
GPathogenic
ARTN, ATP6V0B
+253 more
Copy number loss
See cases
GPathogenic
KCNQ4
Single nucleotide variant
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(5 prime UTR variant)
not provided
GConflicting classifications of pathogenicity
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNQ4
(G10S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ4
(A21fs)
Duplication
(frameshift variant)
not provided
GPathogenic
KCNQ4
(D17A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(A18S)
Indel
(missense variant)
not provided
GUncertain significance
KCNQ4
(A18V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(E22A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(T27R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KCNQ4
(G37D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(G46D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(L47P)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(L48Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(S50N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
KCNQ4
(L52Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(P57S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(P59S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(P59L)
Single nucleotide variant
(missense variant)
KCNQ4-related condition
+2 more
GBenign/Likely benign
KCNQ4
(G60R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(P61S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
Duplication
(inframe_insertion)
not provided
GConflicting classifications of pathogenicity
KCNQ4
(P61L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(S63A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(S65L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(G70S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(Q71fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(Q71fs)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNQ4
(A75T)
Single nucleotide variant
(missense variant)
not provided
GBenign
KCNQ4
(A75V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(H77fs)
Microsatellite
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(H77Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(K78*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 2A
GUncertain significance
KCNQ4
(K78R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
Microsatellite
(inframe_insertion)
not provided
+1 more
GUncertain significance
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNQ4
Deletion
(inframe_deletion)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
(V90L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(E92K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(A98T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
KCNQ4
(H102R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 2A
+2 more
GBenign
KCNQ4
Indel
(intron variant)
not specified
GLikely benign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
+2 more
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not specified
GLikely benign
KCNQ4
(F106V)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KCNQ4
(Q122*)
Single nucleotide variant
(nonsense)
Autosomal dominant nonsyndromic hearing loss 2A
GLikely pathogenic
KCNQ4
(N129S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
KCNQ4
Deletion
(intron variant)
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
KCNQ4
(I140T)
Single nucleotide variant
(missense variant)
Hearing impairment
+3 more
GUncertain significance
KCNQ4
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
KCNQ4
(A154fs)
Deletion
(frameshift variant)
Rare genetic deafness
GPathogenic
KCNQ4
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GBenign/Likely benign
KCNQ4
(Y160*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
KCNQ4
(G162E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
+2 more
GUncertain significance
KCNQ4
(G165S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ4, LOC129930282
(F182L)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
KCNQ4
(G195D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
KCNQ4
(T200R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
KCNQ4
(G222D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
+2 more
GUncertain significance
KCNQ4
(W224R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GUncertain significance
KCNQ4
(L226R)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
+2 more
GUncertain significance
KCNQ4
(L227P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
KCNQ4
(G228C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNQ4
(S229L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
KCNQ4
(V230E)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 2A
GPathogenic
KCNQ4
Indel
(inframe_indel)
not provided
GUncertain significance
KCNQ4
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
KCNQ4
(H234L)
Single nucleotide variant
(missense variant)
Bilateral sensorineural hearing impairment
GPathogenic
KCNQ4
(H234R)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
KCNQ4
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GLikely benign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
KCNQ4
Single nucleotide variant
(intron variant)
not provided
GBenign
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