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Links from MedGen

Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SIX3
Microsatellite
(inframe_insertion)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(N144D)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(E160K)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Duplication
(inframe_insertion)
Holoprosencephaly 2
GUncertain significance
SIX3
(G69C)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(N52Y)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(M79I)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(P286S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(A172G)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(A72V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(R281S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Deletion
(inframe_deletion)
Holoprosencephaly 2
GUncertain significance
SIX3
(H162Q)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(P297L)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(V92G)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GPathogenic
SIX3
(L7fs)
Deletion
(frameshift variant)
Holoprosencephaly 2
GPathogenic
SIX3
(G58C)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(R146C)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(H128Y)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIX3
(G103R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SIX2, SIX3
Duplication
not provided
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(D21N)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Microsatellite
(inframe_insertion)
Holoprosencephaly 2
GUncertain significance
SIX3
Deletion
(inframe_deletion)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(intron variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(M280K)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(G43del)
Microsatellite
(inframe_deletion)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Duplication
(inframe_insertion)
Holoprosencephaly 2
GUncertain significance
SIX3
Deletion
(inframe_deletion)
Holoprosencephaly 2
+1 more
GConflicting classifications of pathogenicity
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(L29P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(S306N)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(T142fs)
Deletion
(frameshift variant)
Holoprosencephaly 2
GPathogenic
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(D315N)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(intron variant)
Holoprosencephaly 2
GLikely benign
SIX3
(G66S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(G317S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
+1 more
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(E76V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(S31T)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(P74R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(I27V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(L7I)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(G317R)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(G47V)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Duplication
(inframe_insertion)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
SIX3
(F14C)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(G55E)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
+1 more
GUncertain significance
SIX3
Deletion
(inframe_deletion)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
SIX3
(P229L)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
NSD1
(S1912F +6 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GLikely pathogenic
SIX3
Deletion
(inframe_deletion)
Holoprosencephaly 2
GPathogenic
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(R194P)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GLikely pathogenic
SIX3
(L321F)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(P277Q)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GBenign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
(A20S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
+1 more
GBenign
SIX3
Single nucleotide variant
(intron variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
GLikely benign
SIX3
Single nucleotide variant
(synonymous variant)
Holoprosencephaly 2
+1 more
GBenign/Likely benign
SIX3
(W113S)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
SIX3
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
SIX3
(W169*)
Single nucleotide variant
(nonsense)
Holoprosencephaly 2
GPathogenic
SIX3
(N18Y)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(G57C)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
SIX3
(L148fs)
Deletion
(frameshift variant)
Holoprosencephaly 2
GPathogenic
SIX3
(S296W)
Single nucleotide variant
(missense variant)
Holoprosencephaly 2
GUncertain significance
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