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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LHX4
(R122W)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(D248V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
(D151H)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
(V13del)
Deletion
(inframe_deletion)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(G357E)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(I363F)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(Y274*)
Single nucleotide variant
(nonsense)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4-AS1, ACBD6
+1 more
(L190P)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(N207K)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(I341T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
ACBD6, LHX4
+1 more
(A155V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4-AS1
+1 more
(V201A)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
(C30W)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
Single nucleotide variant
(synonymous variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+2 more
GConflicting classifications of pathogenicity
LHX4
(T90R)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
(V75I)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GLikely benign
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
Single nucleotide variant
(synonymous variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+2 more
GBenign/Likely benign
ACBD6, LHX4
+1 more
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4-AS1, ACBD6
+1 more
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(P389T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ACBD6, LHX4
+1 more
(H387P)
Single nucleotide variant
(missense variant)
not provided
+1 more
GBenign/Likely benign
ACBD6, LHX4
+1 more
(S336N)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
Single nucleotide variant
(5 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign/Likely benign
ACBD6, LHX4
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(R259Q)
Single nucleotide variant
(missense variant)
LHX4-related condition
+2 more
GConflicting classifications of pathogenicity
ACBD6, LHX4
+1 more
(R235Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GConflicting classifications of pathogenicity
ACBD6, LHX4-AS1
+1 more
(V203G)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GLikely benign
ACBD6, LHX4
+1 more
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
ACBD6, LHX4
+1 more
(E247V)
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GUncertain significance
ACBD6, LHX4
+1 more
(T351M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
ACBD6, LHX4
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
ACBD6, LHX4
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
ACBD6, LHX4
+1 more
Single nucleotide variant
(3 prime UTR variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GLikely benign
ACBD6, LHX4
+1 more
Single nucleotide variant
(3 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
ACBD6, LHX4
+1 more
(T333M)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
Single nucleotide variant
(synonymous variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GBenign/Likely benign
ACBD6, LHX4
+1 more
(R259G)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
Single nucleotide variant
(synonymous variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GLikely benign
ACBD6, LHX4
+1 more
Single nucleotide variant
(intron variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GBenign
LHX4
Single nucleotide variant
(intron variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
(M133T)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GLikely benign
LHX4
Single nucleotide variant
(synonymous variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GBenign/Likely benign
LHX4
Single nucleotide variant
(intron variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
(H49R)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+2 more
GConflicting classifications of pathogenicity
LHX4
(P28L)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
Single nucleotide variant
(synonymous variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+1 more
GBenign
LHX4
(V13I)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
LHX4
Single nucleotide variant
(5 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GBenign
LHX4
Single nucleotide variant
(5 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
Single nucleotide variant
(5 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
LHX4
Single nucleotide variant
(5 prime UTR variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GUncertain significance
ACBD6, LHX4
+1 more
(N328S)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
+2 more
GBenign
ACBD6, LHX4
+1 more
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
LHX4
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
ACBD6, LHX4
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GPathogenic
LHX4
(T99fs)
Duplication
(frameshift variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GPathogenic
ACBD6, LHX4
+1 more
(P388T)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GPathogenic
LHX4-AS1, ACBD6
+1 more
(L190R)
Single nucleotide variant
(missense variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GPathogenic
LHX4
(R84C)
Single nucleotide variant
(missense variant)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GConflicting classifications of pathogenicity
ACBD6, LHX4-AS1
+1 more
(A210P)
Single nucleotide variant
(missense variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GPathogenic
ACBD6, LHX4
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
GPathogenic
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