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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIAPH1
Duplication
(3 prime UTR variant)
not provided
+1 more
GConflicting classifications of pathogenicity
DIAPH1
Single nucleotide variant
(3 prime UTR variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GConflicting classifications of pathogenicity
DIAPH1
(R1213* +1 more)
Single nucleotide variant
(nonsense)
Rare genetic deafness
+3 more
GPathogenic
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+2 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+2 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
DIAPH1
(R1096W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+3 more
GConflicting classifications of pathogenicity
DIAPH1
(M1081fs +1 more)
Duplication
(frameshift variant)
Hearing impairment
+3 more
GPathogenic/Likely pathogenic
DIAPH1
(R959fs +1 more)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
DIAPH1
(D822G +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
DIAPH1
(P705T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DIAPH1
(P695fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 1
+2 more
GPathogenic
DIAPH1
(G653D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+3 more
GBenign/Likely benign
DIAPH1
(P655R +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GBenign/Likely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
DIAPH1
Microsatellite
(inframe_insertion)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+3 more
GBenign/Likely benign
DIAPH1
Microsatellite
(inframe_deletion)
not provided
+4 more
GConflicting classifications of pathogenicity
DIAPH1
(G590V +1 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
DIAPH1
(R579H +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+4 more
GConflicting classifications of pathogenicity
DIAPH1
(E475K +1 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
DIAPH1
(Y415C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+2 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+3 more
GConflicting classifications of pathogenicity
DIAPH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
DIAPH1
(L159P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GLikely benign
DIAPH1
Deletion
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+4 more
GConflicting classifications of pathogenicity
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+2 more
GLikely benign
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
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