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Links from MedGen

Items: 50

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SPTBN4
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
(Q1213K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
LOC130064467, SPTBN4
(R2394P +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(E1064K +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(L429Q)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(R2001* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GPathogenic
SPTBN4
(Q1654* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
(R631* +1 more)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
(A1393V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(I2193M +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(A22T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(A1011D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPTBN4
(R804H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPTBN4
(V524L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPTBN4
(R1000H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPTBN4
(A633fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
(F1621Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SPTBN4
(L152R)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
LOC130064467, SPTBN4
(P2384fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
(L2168V)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC130064467, SPTBN4
(A2410P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(R600C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
+1 more
GUncertain significance
SPTBN4
(G1331S +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GBenign
SPTBN4
Single nucleotide variant
(synonymous variant)
SPTBN4-related disorder
+1 more
GBenign
SPTBN4
Single nucleotide variant
(synonymous variant)
SPTBN4-related disorder
+1 more
GBenign
SPTBN4
Deletion
(intron variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GBenign
SPTBN4
(G1897V +1 more)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(D2038G)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(G253A)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(A38T)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
+1 more
GBenign
SPTBN4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
SPTBN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SPTBN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SPTBN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SPTBN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SPTBN4
(V1977M)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GUncertain significance
SPTBN4
(E475K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
SPTBN4
(Q1197*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GPathogenic
SPTBN4
(L417fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GPathogenic
SPTBN4
(R246P)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
(N384fs)
Duplication
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GPathogenic
SPTBN4
(D1126fs)
Deletion
(frameshift variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GPathogenic
SPTBN4
Single nucleotide variant
(splice donor variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GLikely pathogenic
SPTBN4
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
SPTBN4
(A2485fs)
Deletion
(frameshift variant)
Inborn genetic diseases
GLikely pathogenic
LOC130064467, SPTBN4
(R2435C)
Single nucleotide variant
(missense variant)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
GPathogenic
SPTBN4
(R504Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
SPTBN4
(E1274*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SPTBN4
(Q533*)
Single nucleotide variant
(nonsense)
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
+1 more
GPathogenic
SPTBN4
(W903*)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
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