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Links from Gene

Items: 1 to 100 of 287

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
IHH
(G201D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(G233R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CRYBA2, CYP27A1
+9 more
Duplication
not provided
GUncertain significance
IHH, NHEJ1
Deletion
not provided
GPathogenic
AAMP, ABCB6
+218 more
Copy number gain
See cases
GPathogenic
IHH
(R393G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(R128W)
Single nucleotide variant
(missense variant)
Brachydactyly
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
IHH-related disorder
GLikely benign
IHH
(V306L)
Single nucleotide variant
(missense variant)
IHH-related disorder
GUncertain significance
IHH
(G373D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(R289H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IHH
(N55S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(F361L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(A256T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IHH
(R268H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(M1T)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(M1R)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(W133*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
IHH
(L166M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(Q313fs)
Duplication
(frameshift variant)
not provided
GPathogenic
IHH
(R7Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(V171A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Deletion
(inframe_deletion)
not provided
GUncertain significance
IHH
(Y180*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
IHH
(G215R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(T293A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(R211H)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(H145fs)
Deletion
(frameshift variant)
not provided
GPathogenic
IHH
(T239fs)
Duplication
(frameshift variant)
not provided
GPathogenic
IHH
(M406K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(G202C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
AAMP, ABCB6
+208 more
Copy number gain
not provided
GPathogenic
IHH
(C13R)
Single nucleotide variant
(missense variant)
IHH-related disorder
+2 more
GUncertain significance
IHH
(A409V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(M1V)
Single nucleotide variant
(missense variant +1 more)
Brachydactyly type A1A
GLikely pathogenic
AAMP, ABCA12
+208 more
Copy number gain
See cases
GPathogenic
IHH
(A173D)
Single nucleotide variant
(missense variant)
Acrocapitofemoral dysplasia
GUncertain significance
IHH
(Q263*)
Single nucleotide variant
(nonsense)
Brachydactyly type A1A
GConflicting classifications of pathogenicity
IHH
(W177*)
Single nucleotide variant
(nonsense)
not provided
GConflicting classifications of pathogenicity
IHH
(G405S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
IHH
(K43R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(Q386H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(Q313E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
IHH
(T376I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(A288S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(F401L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(A72V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(P314L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
IHH
(G207R)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IHH
(R158C)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
IHH
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
IHH
(G380D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(V45G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(E58K)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(N161S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(C347R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(T272K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(R168P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Deletion
(inframe_deletion)
not provided
GUncertain significance
IHH
(E94G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(V324M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(Y67C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(Q105R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(G35D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(A274T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
IHH
(R291W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(A231V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
Single nucleotide variant
(intron variant)
not provided
GLikely benign
IHH
(T200M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
IHH
(S195L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
(H139fs)
Duplication
(frameshift variant)
Brachydactyly type A1A
GPathogenic
IHH
(P30L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
IHH
Insertion
(inframe_insertion)
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
IHH
(R73C)
Single nucleotide variant
(missense variant)
Acrocapitofemoral dysplasia
GUncertain significance
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