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 293

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ZIC2
(G506D)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(intron variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
Deletion
(inframe_deletion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Deletion
(inframe_deletion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
Microsatellite
(inframe_deletion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Microsatellite
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(intron variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
(A458V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Microsatellite
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
Duplication
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
LOC110008580, ZIC2
(A470del)
Microsatellite
(inframe_deletion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(F49L)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(R346L)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(P100S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(intron variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Duplication
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
LOC110008580, ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(K270R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(I252V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(M1T)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 5
GUncertain significance
ZIC2
(P437L)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(H236R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(intron variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
Deletion
(inframe_deletion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
Duplication
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ZIC2
(K275R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(C258Y)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GPathogenic
ZIC2
Duplication
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ZIC2
(M384T)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(E368V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Microsatellite
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(D37N)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
LOC110008580, ZIC2
Deletion
(inframe_deletion)
Holoprosencephaly 5
GUncertain significance
ZIC2
(P419L)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
LOC110008580, ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(P419T)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
LOC110008580, ZIC2
Microsatellite
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ZIC2
(G185D)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GBenign
ZIC2
(G439E)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(A59D)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(P313S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(H281Y)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Duplication
(inframe_insertion)
Holoprosencephaly 5
GUncertain significance
ABHD13, ANKRD10
+342 more
Copy number loss
Holoprosencephaly 5
GPathogenic
ZIC2
(C335fs)
Deletion
(frameshift variant)
Holoprosencephaly 5
GLikely pathogenic
ZIC2
(G48A)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(L266P)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ITGBL1, NALCN
+13 more
Deletion
Holoprosencephaly 5
GPathogenic
POGLUT2, SLC10A2
+18 more
Duplication
not provided
GUncertain significance
ZIC2
Single nucleotide variant
(intron variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(H166R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
+1 more
GLikely benign
ZIC2
(A26G)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
+1 more
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
(P338S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
(G513D)
Single nucleotide variant
(missense variant)
Holoprosencephaly 5
GUncertain significance
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
+1 more
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
ZIC2
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 5
GLikely benign
Format
Items per page
Sort by
Choose Destination