U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 76

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HAAO, HADHA
+2457 more
Copy number gain
See cases
GBenign
ATOH8, C2orf68
+302 more
Copy number gain
See cases
GPathogenic
ATOH8, C2orf68
+179 more
Copy number loss
See cases
GPathogenic
ELMOD3, LOC102724579
+11 more
Copy number gain
See cases
GUncertain significance
RETSAT
(Q606P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(A605T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(R604W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RETSAT
(R590W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(Q578K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(V574L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(D567G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(D567Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(P559T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(R553K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(H545Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(R543H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(L521P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(S497F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
Deletion
(nonsense)
not provided
GBenign
RETSAT
(R482Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(E472Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(F454L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(P448L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(F442L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RETSAT
(A432V)
Single nucleotide variant
(missense variant)
not provided
GBenign
RETSAT
(G396D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(R395Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RETSAT
(P383H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(T380M)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RETSAT
(R369H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(N367K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(A354T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(Y346C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(S335G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(T316R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(A313T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(G311E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(P270A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(V268D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RETSAT
(R230H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(G226E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(D223H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(I190N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(M169I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(I135N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(F134fs)
Deletion
(frameshift variant)
not provided
GLikely benign
RETSAT
(I131T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(R125H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(I123T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(H107R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(Q98K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(A89V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(I73T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(V71M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(K67T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(Q57R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(K56Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
(S28G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RETSAT
Single nucleotide variant
(synonymous variant)
not provided
GBenign
ACTG2, ACTR1B
+529 more
Copy number loss
See cases
GPathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ATOH8, C2orf68
+35 more
Copy number loss
not specified
GPathogenic
ELMOD3, GGCX
+27 more
Copy number loss
not provided
GPathogenic
RETSAT, TGOLN2
+2 more
Copy number gain
not provided
GUncertain significance
SH2D6, TCF7L1
+4 more
Copy number gain
not provided
GUncertain significance
ATOH8, C2orf68
+41 more
Copy number loss
not provided
GPathogenic
ATOH8, AUP1
+78 more
Copy number loss
not provided
GPathogenic
MAT2A, TCF7L1
+22 more
Copy number gain
not provided
GUncertain significance
AAK1, ACTG2
+127 more
Duplication
not provided
GPathogenic
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
SFTPB, SH2D6
+81 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination