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Links from MedGen

Items: 1 to 100 of 1000

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DIAPH1
Single nucleotide variant
(intron variant)
Autosomal dominant nonsyndromic hearing loss 1
GLikely benign
DIAPH1
Duplication
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Duplication
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Deletion
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Deletion
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GPathogenic
DIAPH1
(E114D +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
(I642N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(D1024E +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
(E407G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(Q940L +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
GUncertain significance
DIAPH1
(F1203S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(K762T +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(L271fs +1 more)
Deletion
(frameshift variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GPathogenic
DIAPH1
Single nucleotide variant
(synonymous variant +1 more)
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
(S889F +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(S74L +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
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(G30fs)
Deletion
(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
GUncertain significance
DIAPH1
Single nucleotide variant
(synonymous variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely benign
DIAPH1
(G915V +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
(R148G +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
(L161P +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(L754V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(F755L +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
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
(Q1061R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(P1038A +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
(G20S)
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
GUncertain significance
DIAPH1
(G1197C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
Single nucleotide variant
(intron variant +1 more)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GLikely pathogenic
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
(F810S +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(K1169N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(S128R +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(K1076R +1 more)
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
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
(T637N +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
(E1236Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(D357H +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
GLikely benign
DIAPH1
(G221A +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(P743Q +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(M137T +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
Duplication
(splice donor 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
(V539I +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
(Q1176H +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(D822E +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
Deletion
(intron 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
(I111V +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
(D1137Y +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(S688R +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(T44I +1 more)
Single nucleotide variant
(missense variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(V567I +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
(E497V +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
Deletion
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(M136T +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 +1 more)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GLikely benign
DIAPH1
(P297L +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
(intron variant)
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
+1 more
GUncertain significance
DIAPH1
(I452V +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
(N929I +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(A273V +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
(E25D)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(R686G +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(I618V +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(A1225S +2 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(I308M +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
DIAPH1
(G651C +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant nonsyndromic hearing loss 1
+1 more
GUncertain significance
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