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Links from MedGen

Items: 21

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZC4H2
(E113K +1 more)
Single nucleotide variant
(missense variant +2 more)
Wieacker-Wolff syndrome, female-restricted
GUncertain significance
ZC4H2
(I50del +1 more)
Deletion
(inframe_deletion +1 more)
Wieacker-Wolff syndrome, female-restricted
GUncertain significance
ZC4H2
(L67P +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome, female-restricted
GUncertain significance
ZC4H2
(L107fs +1 more)
Deletion
(frameshift variant +1 more)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
(L74del +1 more)
Deletion
(inframe_deletion +1 more)
Wieacker-Wolff syndrome, female-restricted
GUncertain significance
ZC4H2
(E35* +1 more)
Single nucleotide variant
(nonsense +1 more)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
(A135P +2 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome, female-restricted
GLikely pathogenic
ZC4H2
(R175G +1 more)
Single nucleotide variant
(missense variant +2 more)
Wieacker-Wolff syndrome, female-restricted
GLikely pathogenic
ZC4H2
(C169Y +2 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
(Q59H +1 more)
Single nucleotide variant
(missense variant +1 more)
Wieacker-Wolff syndrome, female-restricted
+1 more
GUncertain significance
LOC130068372, LOC130068373
+3 more
Deletion
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
(Q23*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
(W142* +1 more)
Single nucleotide variant
(nonsense +2 more)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
Deletion
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
(E69fs +1 more)
Microsatellite
(frameshift variant +1 more)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
Single nucleotide variant
(splice donor variant)
Wieacker-Wolff syndrome, female-restricted
GPathogenic
ZC4H2
Single nucleotide variant
(synonymous variant +2 more)
not provided
+3 more
GBenign
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
(C206F +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
ZC4H2
(R198Q +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GPathogenic
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