U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 110

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZIC3
(F369L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GLikely pathogenic
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
(S145R)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(L37fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(E155*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(M226L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GBenign
ZIC3
(G324E)
Indel
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
(M243fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(K326*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
Single nucleotide variant
(intron variant)
Heterotaxy, visceral, 1, X-linked
GBenign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
(Q292H)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(N223D)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(C360Y)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GLikely pathogenic
ZIC3
(P431L)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(H406L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(H90Y)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(R200fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
(I247V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
+1 more
GBenign/Likely benign
ZIC3
(A33S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ZIC3
(A84G)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ADGRG4, HTATSF1
+10 more
Deletion
Heterotaxy, visceral, 1, X-linked
+2 more
GPathogenic
ZIC3
(T271fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
C1orf127
(R113*)
Single nucleotide variant
(nonsense +1 more)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
Microsatellite
(inframe_insertion)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
(V448I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
+1 more
GLikely benign
ZIC3
(V287fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(R368fs)
Deletion
(frameshift variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GPathogenic/Likely pathogenic
ZIC3
Duplication
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(S109C)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(M35I)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(R404L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(E31V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
Deletion
(inframe_deletion)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(A170fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(F328L)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GConflicting classifications of pathogenicity
ZIC3
(N223S)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
(A203T)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
(P39L)
Single nucleotide variant
(missense variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Heterotaxy, visceral, 1, X-linked
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(5 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(5 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
Single nucleotide variant
(5 prime UTR variant)
VACTERL association, X-linked, with or without hydrocephalus
+1 more
GUncertain significance
ZIC3
(S43*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(Y388fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(R320*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 1, X-linked
GLikely pathogenic
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GBenign
ZIC3
Single nucleotide variant
(synonymous variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
Microsatellite
(inframe_deletion)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(E191fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(A55del)
Microsatellite
(inframe_deletion)
Heterotaxy, visceral, 1, X-linked
+1 more
GConflicting classifications of pathogenicity
ZIC3
(V179fs)
Duplication
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(N294K)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(R350S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(P198fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(S43*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(C253S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(S252*)
Single nucleotide variant
(nonsense)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ADGRG4, ACTRT1
+541 more
Indel
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(A33V)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GLikely benign
ZIC3
(D416E)
Single nucleotide variant
(missense variant +1 more)
Heterotaxy, visceral, 1, X-linked
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZIC3
Microsatellite
(inframe_deletion)
ZIC3-related condition
+1 more
GBenign/Likely benign
ZIC3
(P357T)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
(Y159fs)
Deletion
(frameshift variant)
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
(G7R)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
+1 more
GConflicting classifications of pathogenicity
ZIC3
Microsatellite
(inframe_insertion)
ZIC3-related condition
+1 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
Deletion
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Deletion
(3 prime UTR variant +1 more)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
Single nucleotide variant
(3 prime UTR variant +1 more)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(intron variant +1 more)
Heterotaxy, visceral, 1, X-linked
+2 more
GBenign/Likely benign
ZIC3
Single nucleotide variant
(synonymous variant)
VACTERL association, X-linked, with or without hydrocephalus
+2 more
GBenign/Likely benign
ZIC3
(T44S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(5 prime UTR variant)
Congenital heart defects 1, nonsyndromic, 1
+2 more
GUncertain significance
ZIC3
(W255S)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 1, X-linked
GLikely pathogenic
ZIC3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
ZIC3
Microsatellite
(inframe_insertion)
ZIC3-related condition
+2 more
GConflicting classifications of pathogenicity
ZIC3
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
ZIC3
Duplication
Heterotaxy, visceral, 1, X-linked
GUncertain significance
ZIC3
Deletion
Heterotaxy, visceral, 1, X-linked
GPathogenic
ZIC3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ZIC3
(G17C)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination