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Items: 1 to 100 of 203

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123497907, LOC123497908
+1445 more
Copy number gain
See cases
GPathogenic
LINC02219, LINC02229
+265 more
Copy number loss
Intellectual disability
GLikely pathogenic
ADAMTS6, AK6
+139 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS6, AK6
+115 more
Copy number loss
See cases
GPathogenic
AK6, CCDC125
+101 more
Copy number gain
See cases
GUncertain significance
MARVELD2
(N3D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(R13C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(R13H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
(D15N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MARVELD2
(T33I)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign
MARVELD2
(R39W)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
MARVELD2
(P59L)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(T66R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
(E68del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
MARVELD2
(I71V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(A72G)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(R80C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(K87*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MARVELD2
(R91S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(D96E)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(E98K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(W99*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MARVELD2
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(D111N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(A122T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(P124S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
(L130H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(K134E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(F144V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(R147Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
MARVELD2-related condition
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(A152T)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
+1 more
GUncertain significance
MARVELD2
(V153A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(R156Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MARVELD2
(Y159C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(R164*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MARVELD2
(R164Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
MARVELD2
(R164P)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
(H165R)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MARVELD2
(T166I)
Single nucleotide variant
(missense variant)
Nonsyndromic Hearing Loss, Recessive
GUncertain significance
MARVELD2
(Q167R)
Single nucleotide variant
(missense variant)
MARVELD2-related condition
+3 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
MARVELD2
(R170*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MARVELD2
(Y172H)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(L181V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(I195M)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(V198M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GLikely benign
MARVELD2
(V199fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
MARVELD2
(L203fs)
Duplication
(frameshift variant)
Autosomal recessive nonsyndromic hearing loss 49
GPathogenic
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
MARVELD2
(W221S)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
(Y222*)
Single nucleotide variant
(nonsense)
Autosomal recessive nonsyndromic hearing loss 49
GPathogenic
MARVELD2
(V236I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
(L239W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(Y243C)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(Y248C)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
(P254A)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
MARVELD2
(G261E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(T267fs)
Deletion
(frameshift variant)
not provided
GPathogenic
MARVELD2
(T267I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(I268V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(I270L)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
MARVELD2
(M277V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
MARVELD2-related condition
+2 more
GConflicting classifications of pathogenicity
MARVELD2
(R280W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
(W289*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
MARVELD2
(P290S)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
MARVELD2
(E293Q)
Single nucleotide variant
(missense variant)
Autosomal recessive nonsyndromic hearing loss 49
GUncertain significance
MARVELD2
(F294fs)
Deletion
(frameshift variant)
Hearing impairment
+1 more
GLikely pathogenic
MARVELD2
(I296S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(L300M)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(A307T)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
MARVELD2
(A308P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MARVELD2
(Y311C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
MARVELD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MARVELD2
(R317*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
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