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Items: 1 to 100 of 168

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ANTKMT, ARHGDIG
+194 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+210 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
ARHGDIG, AXIN1
+59 more
Copy number loss
See cases
GUncertain significance
ARHGDIG, AXIN1
+26 more
Copy number gain
See cases
GUncertain significance
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
NHLRC4, NME4
+119 more
Copy number loss
See cases
GPathogenic
LOC125146383, LOC125146384
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+253 more
Copy number loss
See cases
GPathogenic
ARHGDIG, ATP6V0C
+482 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+130 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+164 more
Copy number loss
See cases
GPathogenic
ARHGDIG, AXIN1
+34 more
Copy number gain
See cases
GPathogenic
AXIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
AXIN1-related disorder
GBenign
AXIN1
Single nucleotide variant
(3 prime UTR variant +1 more)
AXIN1-related disorder
GBenign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
AXIN1
(I854L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(V810A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(E844K +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(D807E +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R805Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Caudal duplication
+2 more
GBenign/Likely benign
AXIN1
(R841*)
Single nucleotide variant
(nonsense +1 more)
Craniometadiaphyseal osteosclerosis with hip dysplasia
GPathogenic
AXIN1
(V799fs +1 more)
Duplication
(frameshift variant +1 more)
Craniometadiaphyseal osteosclerosis with hip dysplasia
GPathogenic
AXIN1
(D829Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
(V827M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(intron variant)
AXIN1-related disorder
GLikely benign
AXIN1
(S819R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
Hepatocellular carcinoma
+2 more
GBenign/Likely benign
AXIN1
(L799V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
AXIN1
(V748A +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(intron variant)
AXIN1-related disorder
GBenign
AXIN1
(E763K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(V756M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
EBV-positive nodal T- and NK-cell lymphoma
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXIN1
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
AXIN1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
AXIN1
(R723Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R723*)
Single nucleotide variant
(nonsense +1 more)
Hepatocellular carcinoma
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
(L670F)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXIN1
(T656M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(G650S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
AXIN1
(K631I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
(N605D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(S579P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(A573G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
AXIN1
(A558T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXIN1
(A526V)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GBenign
AXIN1
(V517I)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXIN1
(D495E)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign/Likely benign
AXIN1
(R484H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R477H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R460Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(M454V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
AXIN1
(C451Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
AXIN1
(R450C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
(P434L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(D426N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
(G425S)
Single nucleotide variant
(missense variant +1 more)
AXIN1-related disorder
GBenign
AXIN1
(G422S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(V416M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R415H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXIN1
(R382H)
Single nucleotide variant
(missense variant +1 more)
AXIN1-related disorder
GLikely benign
AXIN1
(R382C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R376W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(R373H)
Single nucleotide variant
(missense variant +1 more)
Hepatocellular carcinoma
+1 more
GUncertain significance
AXIN1
Single nucleotide variant
(intron variant)
AXIN1-related disorder
GLikely benign
AXIN1
(V362fs)
Deletion
(frameshift variant)
Hepatocellular carcinoma
GPathogenic
AXIN1
(H352N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXIN1
(R347G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
AXIN1
(R298W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AXIN1
(S287G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(P278L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
AXIN1
(T275I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(P263T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GBenign
AXIN1
(G229R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
AXIN1
(P199T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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