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Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZC4H2
(L74P +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(Y25N +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(P161fs +1 more)
Deletion
(frameshift variant +2 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(K36N +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(E113Q +1 more)
Single nucleotide variant
(missense variant +2 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(T153M +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
+1 more
GUncertain significance
ZC4H2
(E35fs +1 more)
Deletion
(frameshift variant +1 more)
Wieacker-Wolff syndrome
GLikely pathogenic
ZC4H2
(R157fs +1 more)
Duplication
(frameshift variant +2 more)
Wieacker-Wolff syndrome
GLikely pathogenic
ZC4H2
Single nucleotide variant
(intron variant)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
Single nucleotide variant
(intron variant)
Wieacker-Wolff syndrome
GLikely pathogenic
ZC4H2
(K58fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+2 more
GPathogenic
ZC4H2
(Q34P +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(A177T +2 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GPathogenic
ZC4H2
(K164N +1 more)
Single nucleotide variant
(missense variant +2 more)
Wieacker-Wolff syndrome
GUncertain significance
ZC4H2
(H193fs +2 more)
Deletion
(frameshift variant +1 more)
Wieacker-Wolff syndrome
GPathogenic
ZC4H2
(K217R +2 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GPathogenic
ZC4H2
(Q115* +1 more)
Single nucleotide variant
(nonsense +2 more)
Wieacker-Wolff syndrome
+1 more
GPathogenic
ZC4H2
Deletion
Wieacker-Wolff syndrome
GPathogenic
ZC4H2
Single nucleotide variant
(synonymous variant +2 more)
Wieacker-Wolff syndrome, female-restricted
+3 more
GBenign
ZC4H2
Single nucleotide variant
(5 prime UTR variant +2 more)
Wieacker-Wolff syndrome
Gnot provided
ZC4H2
(Q143* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
+1 more
GPathogenic/Likely pathogenic
ZC4H2
(E105del +1 more)
Microsatellite
(inframe_deletion +1 more)
Wieacker-Wolff syndrome
GLikely pathogenic
ZC4H2
(M8fs)
Deletion
(frameshift variant +2 more)
not provided
+1 more
GPathogenic
ZC4H2
(R211W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GLikely pathogenic
ZC4H2
(R198W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+2 more
GPathogenic/Likely pathogenic
ZC4H2
(R67* +1 more)
Single nucleotide variant
(nonsense +1 more)
Wieacker-Wolff syndrome, female-restricted
+3 more
GPathogenic/Likely pathogenic
ZC4H2
(R18K)
Single nucleotide variant
(missense variant +2 more)
Wieacker-Wolff syndrome
GPathogenic
ZC4H2
Single nucleotide variant
(intron variant)
ZC4H2-related X-linked intellectual disability
+1 more
GPathogenic/Likely pathogenic
ZC4H2
(L66H +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GPathogenic
ZC4H2
(R213W +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
+1 more
GPathogenic
ZC4H2
(P201S +1 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder
GLikely pathogenic
ZC4H2
(R198Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
ZC4H2
(V63L +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome
GPathogenic
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