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Items: 1 to 100 of 153

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABCB11, AGPS
+488 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+411 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+417 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+214 more
Copy number loss
See cases
GPathogenic
ATF2, ATP5MC3
+136 more
Copy number loss
See cases
GPathogenic
ATP5MC3, ATF2
+159 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+150 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+224 more
Copy number loss
See cases
GPathogenic
AGPS, ATF2
+307 more
Copy number loss
See cases
GPathogenic
LOC129935164, LOC129935165
+697 more
Copy number loss
See cases
GPathogenic
EVX2, HOXD-AS2
+13 more
Copy number loss
See cases
GPathogenic
AGPS, ANKAR
+377 more
Copy number loss
See cases
GPathogenic
HOXD13
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
HOXD11, HOXD12
+1 more
Copy number gain
See cases
GUncertain significance
HOXD13
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
HOXD13
Single nucleotide variant
(genic upstream transcript variant)
not provided
GBenign
HOXD13
Single nucleotide variant
(5 prime UTR variant)
not provided
GLikely benign
HOXD13
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
HOXD13
(S2R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(G11A)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
HOXD13
(A14V)
Single nucleotide variant
(missense variant)
not specified
+1 more
GBenign/Likely benign
HOXD13
(A19G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(S30del)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
HOXD13
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HOXD13
(A36del)
Microsatellite
(inframe deletion)
HOXD13-related disorder
GLikely benign
HOXD13
(Q39H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(G42V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
HOXD13
(H53L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
Deletion
(inframe_deletion)
VACTERL association
GUncertain significance
HOXD13
(G55A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
Duplication
(inframe_insertion)
HOXD13-related disorder
+1 more
GPathogenic
HOXD13
(R56Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
Microsatellite
(inframe_insertion)
Brachydactyly-syndactyly syndrome
GLikely benign
HOXD13
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HOXD13
(A71del)
Microsatellite
(inframe deletion)
HOXD13-related disorder
GLikely benign
HOXD13
Deletion
(inframe_deletion)
not provided
GUncertain significance
HOXD13
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
HOXD13
Duplication
(inframe_insertion)
Synpolydactyly type 1
+4 more
GPathogenic
HOXD13
Deletion
(inframe_deletion)
not provided
+1 more
GLikely benign
HOXD13
(A57V)
Single nucleotide variant
(missense variant)
Brachydactyly type E1
+5 more
GUncertain significance
HOXD13
Duplication
(inframe_insertion)
HOXD13-related disorder
+1 more
GPathogenic
HOXD13
Deletion
(inframe_deletion)
Brachydactyly-syndactyly syndrome
GPathogenic
HOXD13
Duplication
(inframe_insertion)
not provided
GUncertain significance
HOXD13
Deletion
(inframe_deletion)
not specified
+1 more
GBenign/Likely benign
HOXD13
Deletion
(inframe deletion)
HOXD13-related disorder
GBenign
HOXD13
Deletion
(inframe_deletion)
not provided
GUncertain significance
HOXD13
Deletion
(inframe_deletion)
not provided
GLikely benign
HOXD13
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HOXD13
(A68S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(A68P)
Single nucleotide variant
(missense variant)
Brachydactyly type D
+5 more
GUncertain significance
HOXD13
(A69fs)
Insertion
(frameshift variant)
not provided
GLikely pathogenic
HOXD13
Insertion
(inframe_insertion)
not provided
GPathogenic
HOXD13
Insertion
(inframe_insertion)
not provided
+1 more
GPathogenic
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GBenign
HOXD13
Insertion
(inframe_insertion)
Synpolydactyly type 1
+1 more
GPathogenic
HOXD13
(G73S)
Single nucleotide variant
(missense variant)
Brachydactyly-syndactyly syndrome
+1 more
GUncertain significance
HOXD13
(E81K)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HOXD13
(S87W)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HOXD13
Single nucleotide variant
(synonymous variant)
HOXD13-related disorder
+1 more
GBenign
HOXD13
(A97G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(A97V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(P99L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(P99R)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HOXD13
(K105fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HOXD13
(K105T)
Single nucleotide variant
(missense variant)
not provided
GBenign/Likely benign
HOXD13
(P108fs)
Deletion
(frameshift variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(P119S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(P120Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(A124E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(H130R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GBenign
HOXD13
(A150V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(H156Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HOXD13
(Y167C)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
HOXD13
(D169E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HOXD13
(P179L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(N181fs)
Deletion
(frameshift variant)
not provided
GPathogenic
HOXD13
(N181D)
Single nucleotide variant
(missense variant)
HOXD13-related disorder
+2 more
GLikely benign
HOXD13
(A187G)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(F192del)
Deletion
(inframe_deletion)
not provided
GUncertain significance
HOXD13
(V203M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(G205S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(Y206C)
Single nucleotide variant
(missense variant)
HOXD13-related disorder
GLikely benign
HOXD13
(D208V)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GUncertain significance
HOXD13
(S225C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(Y229fs)
Duplication
(frameshift variant)
not provided
GPathogenic
HOXD13
(G228A)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(G228V)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(Y229C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
(N236fs)
Deletion
(frameshift variant)
Synpolydactyly type 1
GPathogenic
HOXD13
(G237R)
Single nucleotide variant
(missense variant)
Synpolydactyly type 1
GUncertain significance
HOXD13
(Q248fs)
Deletion
(frameshift variant)
Brachydactyly type E1
+3 more
GPathogenic
HOXD13
(Q248*)
Single nucleotide variant
(nonsense)
Synpolydactyly type 1
GPathogenic
HOXD13
(Q248H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HOXD13
(G261R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HOXD13
Single nucleotide variant
(splice donor variant)
Synpolydactyly type 1
GPathogenic
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