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Items: 1 to 100 of 212

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
LOC126807210, LOC126807211
+1102 more
Copy number gain
See cases
GPathogenic
LOC126807213, LOC126807214
+1068 more
Copy number gain
See cases
GPathogenic
LOC132089068, LOC132089069
+1051 more
Copy number gain
See cases
GPathogenic
LOC126807202, LOC126807203
+1026 more
Copy number gain
See cases
GPathogenic
LOC129993194, LOC129993195
+903 more
Copy number gain
See cases
GPathogenic
LOC123493228, LOC123493229
+481 more
Copy number gain
See cases
GPathogenic
AADAT, ANP32C
+243 more
Copy number loss
See cases
GPathogenic
LOC112939921, LOC121725192
+84 more
Copy number gain
See cases
GLikely pathogenic
ANP32C, APELA
+130 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
ANP32C, APELA
+65 more
Copy number gain
See cases
GUncertain significance
MIR578, MSMO1
+64 more
Copy number gain
See cases
GPathogenic
LOC129993418, LOC129993419
+535 more
Copy number gain
See cases
GPathogenic
AADAT, ANP32C
+158 more
Copy number loss
See cases
GPathogenic
NAF1
(T378fs)
Duplication
(frameshift variant)
Pulmonary fibrosis
GLikely risk allele
NAF1
(P359L)
Single nucleotide variant
(missense variant)
NAF1-related disorder
GUncertain significance
NAF1
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
NAF1
(Y493S)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
(S488P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NAF1
(P481L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(P479L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
(P471L)
Single nucleotide variant
(intron variant +1 more)
not provided
GUncertain significance
NAF1
(L468V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(P460R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NAF1
(H459Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
(G450S)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GBenign
NAF1
(V447I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant +1 more)
NAF1-related disorder
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
(R437H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(R437C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(L426F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(Q421R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
(M401T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(H400Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(Y396C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NAF1
(G388D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(R384Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(R375Q)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(R375*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
NAF1
(R369C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(Y368*)
Single nucleotide variant
(nonsense +1 more)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NAF1
(H358R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(A357V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(A357G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(V351I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
(E346K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
NAF1
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
NAF1
(P344S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(N342S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(S329Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(S329fs)
Duplication
(frameshift variant)
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
GPathogenic
NAF1
(A323G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAF1
(E322D)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(K319fs)
Deletion
(frameshift variant)
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
GPathogenic
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NAF1
(G296R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAF1
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
NAF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(intron variant)
not specified
+1 more
GConflicting classifications of pathogenicity
NAF1
(I286T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(S264N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAF1
(I262V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(H261Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(R255Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(R255W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant)
NAF1-related disorder
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(splice acceptor variant)
not provided
GUncertain significance
NAF1
(A237S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAF1
(R234P)
Single nucleotide variant
(missense variant)
Pulmonary fibrosis
GLikely risk allele
NAF1
(K231*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
NAF1
(N219S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(T218S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(E215A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(splice donor variant)
Pulmonary fibrosis
GLikely risk allele
NAF1
(S206N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAF1
(V204I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NAF1
(L201F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAF1
(D195V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NAF1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
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