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Links from MedGen

Items: 1 to 100 of 1036

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIAPH1
(S857Y +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(E1151Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(M860V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(P609T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(G615D +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(P419H +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(P677R +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(V567A +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(A698T +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(G1217R +1 more)
Single nucleotide variant
(missense variant +1 more)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(stop lost +1 more)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(R1071C +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(Q778P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Insertion
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Deletion
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GBenign
DIAPH1
(S811F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(P732S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(K480T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(P613L +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(S845A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(L1017F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(A702V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Duplication
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Deletion
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(A980T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(R1147W +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(L579I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(I1178V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(P609L +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+2 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(T664A +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(L621V +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(P721R +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(L1249P)
Single nucleotide variant
(synonymous variant +1 more)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(E836G +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(L483F +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(D1059V +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(E207K +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(L973V +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(D69G +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(D47V)
Single nucleotide variant
(missense variant +1 more)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(M860L +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(Y422C +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(P656L +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(F401L +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(K550R +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Microsatellite
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(N422I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(N984S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(M239T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(P769R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(N56D +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(P683R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(R1071fs +1 more)
Insertion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GPathogenic
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(R15W)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(W784fs +1 more)
Duplication
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GPathogenic
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(N245S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(D16G)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Microsatellite
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
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