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Links from MedGen

Items: 1 to 100 of 315

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DISP1
(T32I +2 more)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(E72fs)
Deletion
(frameshift variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(S189R)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(M1K)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P207S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(R227K)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(G135S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(L56R)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A353T)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(G322E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(T286P)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P34S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(R82S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(G235E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(T232A)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(S176Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(P308L)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(K26R)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(G200E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(P157R)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P354S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A99E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(R61L)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(V290I)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(R129W)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GBenign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+1 more
GLikely benign
FOXH1
(P187L)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P183L)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P50del)
Deletion
(inframe_deletion)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P297S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A14T)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Deletion
(inframe_deletion)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A139D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FOXH1
(R264P)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
ADCK5, BOP1
+66 more
Duplication
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A43V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(P320S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(M41T)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A126T)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
LOC130065955, MATN4
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(L44V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(P11H)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(L293W)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(K142E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(I169M)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
FOXH1
(L243F)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(E229K)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
LAMA5
(V1879I)
Single nucleotide variant
(missense variant)
Severe hydrocephalus
+1 more
GUncertain significance
LAMA5
(R1894C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ZRSR2
(R403fs)
Deletion
(frameshift variant)
Heart, malformation of
+3 more
GLikely pathogenic
FOXH1
(S5C)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(S158T)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
Holoprosencephaly sequence
GBenign
FOXH1
Single nucleotide variant
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A259V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A271V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(G322V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
FOXH1
Single nucleotide variant
(5 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(5 prime UTR variant)
Holoprosencephaly sequence
GBenign
FOXH1
(E15V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(R61H)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(E75G)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GConflicting classifications of pathogenicity
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GLikely benign
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A136S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
FOXH1
(P160A)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
NODAL
Single nucleotide variant
(3 prime UTR variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
(T23I +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
NODAL
(K171M +1 more)
Single nucleotide variant
(missense variant)
Heterotaxy, visceral, 5, autosomal
+1 more
GUncertain significance
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