U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 128

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
LOC112340388, LOC112441449
+821 more
Copy number gain
See cases
GPathogenic
ABCA3, AMDHD2
+356 more
Copy number gain
See cases
GPathogenic
LOC130058096, LOC130058097
+59 more
Copy number loss
See cases
GUncertain significance
MPG, NPRL3
+26 more
Copy number gain
See cases
GUncertain significance
OR1F1, OR2C1
+916 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+224 more
Copy number loss
See cases
GPathogenic
ANTKMT, ARHGDIG
+119 more
Copy number loss
See cases
GPathogenic
LOC130058195, LOC130058196
+556 more
Copy number gain
See cases
GPathogenic
ANTKMT, ARHGDIG
+179 more
Copy number loss
See cases
GPathogenic
RMI2, RNF151
+842 more
Copy number gain
See cases
GPathogenic
AXIN1, BAIAP3
+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
LOC130058122, LOC130058123
+164 more
Copy number loss
See cases
GPathogenic
ARHGDIG, AXIN1
+34 more
Copy number gain
See cases
GPathogenic
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXIN1
(I854L +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(E844K +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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
(V827M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(S819R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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)
Inborn genetic diseases
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not specified
GLikely benign
AXIN1
(V756M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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)
Inborn genetic diseases
GUncertain significance
AXIN1
(R723*)
Single nucleotide variant
(nonsense +1 more)
Craniometadiaphyseal osteosclerosis with hip dysplasia
GPathogenic
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
AXIN1
(T656M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(G650S)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
AXIN1
(N605D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
AXIN1
(A558T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
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
(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
(R477H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(M454V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
AXIN1
(P434L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(G422S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(V416M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(R415H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXIN1
(R382C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(R373H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(V362fs)
Deletion
(frameshift variant)
Hepatocellular carcinoma
GPathogenic
AXIN1
(H352N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AXIN1
(R347G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
AXIN1
(S287G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
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
GBenign
AXIN1
(G229R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(P199T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(M173T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(S64W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1
(A40V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
AXIN1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
AXIN1
(P37L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
AXIN1, LOC100134368
+11 more
Copy number gain
See cases
GBenign
AXIN1, LOC100134368
+11 more
Copy number gain
See cases
GBenign
ARHGDIG, AXIN1
+18 more
Copy number loss
not provided
GUncertain significance
PRR35, ANTKMT
+65 more
Copy number loss
not provided
GPathogenic
UNKL, UQCC4
+64 more
Deletion
Idiopathic generalized epilepsy
+1 more
GUncertain significance
ANTKMT, ARHGDIG
+67 more
Deletion
not provided
GUncertain significance
ANTKMT, ARHGDIG
+55 more
Deletion
not provided
GPathogenic
PRSS21, PRSS22
+170 more
Duplication
Idiopathic generalized epilepsy
+3 more
GUncertain significance
ARHGDIG, AXIN1
+13 more
Deletion
Epilepsy
GPathogenic
PDIA2, ARHGDIG
+12 more
Duplication
Epilepsy
GUncertain significance
ANTKMT, ARHGDIG
+53 more
Copy number loss
not provided
GPathogenic
ABCA3, ADCY9
+187 more
Copy number gain
See cases
GPathogenic
ANTKMT, MRPL28
+58 more
Copy number loss
not specified
GPathogenic
WDR90, WFIKKN1
+34 more
Copy number loss
not specified
GPathogenic
JPT2, KCTD5
+188 more
Copy number gain
not provided
GPathogenic
MRPL28, FAM234A
+9 more
Copy number gain
not provided
GUncertain significance
ABCA3, ADCY9
+188 more
Copy number gain
not provided
GPathogenic
PRR25, LMF1
+33 more
Copy number gain
not provided
GUncertain significance
NME4, CAPN15
+14 more
Copy number gain
not provided
GUncertain significance
PRR35, AXIN1
+32 more
Copy number gain
not provided
GUncertain significance
SNRNP25, C1QTNF8
+48 more
Copy number loss
not provided
GPathogenic
AXIN1, DECR2
+4 more
Copy number loss
not provided
GUncertain significance
ANTKMT, ARHGDIG
+89 more
Copy number loss
not provided
GPathogenic
ARHGDIG, AXIN1
+4 more
Copy number gain
not provided
GUncertain significance
ANTKMT, ARHGDIG
+58 more
Copy number loss
not provided
GPathogenic
ARHGDIG, AXIN1
+4 more
Copy number gain
not provided
GUncertain significance
ANTKMT, ARHGDIG
+40 more
Copy number loss
not provided
GPathogenic
ABCA3, ADCY9
+159 more
Copy number gain
Chromosome 16p13.3 duplication syndrome
GPathogenic
TPSAB1, PIGQ
+65 more
Copy number loss
not provided
GPathogenic
Format
Items per page
Sort by
Choose Destination