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Items: 1 to 100 of 108

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ABAT, ABCA3
+822 more
Copy number gain
See cases
GPathogenic
EEF2KMT, ELOB
+917 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+843 more
Copy number gain
See cases
GPathogenic
ABAT, ABCA3
+926 more
Copy number gain
See cases
GPathogenic
ADCY9, ALG1
+262 more
Copy number loss
See cases
GPathogenic
LOC130058360, LOC130058361
+66 more
Deletion
Rubinstein-Taybi syndrome
GPathogenic
ANKS3, C16orf96
+30 more
Copy number loss
See cases
GUncertain significance
ABAT, ABCC1
+852 more
Copy number gain
See cases
GPathogenic
SEPTIN12
(A304T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(G303E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R342W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(G336E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(P286L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(V282M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(P279T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(H319D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R265H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R265C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(I259T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(H257D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(T256I +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 10
GUncertain significance
SEPTIN12
(I301V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R241T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(H234R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(V263D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(G260R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(V203M +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SEPTIN12
Single nucleotide variant
(synonymous variant)
SEPTIN12-related disorder
GLikely benign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
(D188N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(N233S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(I232V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(E184D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(M226I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
Single nucleotide variant
(synonymous variant)
SEPTIN12-related disorder
GLikely benign
SEPTIN12
(R209H +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SEPTIN12
(T154I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(D197N +1 more)
Single nucleotide variant
(missense variant)
Spermatogenic failure 10
Grisk factor
SEPTIN12
(R195G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R185Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(C184Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(C138S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R182Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R136W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(I131F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(I131V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R127W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(G169E)
Single nucleotide variant
(missense variant +1 more)
SEPTIN12-related disorder
GLikely benign
SEPTIN12
(P166A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
(V162M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
SEPTIN12
(V158L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
(R157W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
(R151H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
(R149H)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
(R149C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
(Y132D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
Duplication
(intron variant)
not provided
GBenign
SEPTIN12
(G117R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(T96I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(L95M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(T89M)
Single nucleotide variant
(missense variant)
Spermatogenic failure 10
Grisk factor
SEPTIN12
Duplication
(intron variant)
not provided
GBenign
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
SEPTIN12
(M44V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(D37A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SEPTIN12
(S14L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(P10A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(P8S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(R6H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
(D2E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SEPTIN12
Single nucleotide variant
(intron variant)
not provided
GBenign
CORO7, CORO7-PAM16
+52 more
Copy number loss
not provided
GPathogenic
ALG1, ANKS3
+22 more
Copy number gain
not provided
GUncertain significance
C16orf89, ADCY9
+45 more
Duplication
Rubinstein-Taybi syndrome
GUncertain significance
TIGD7, TMEM204
+170 more
Duplication
Idiopathic generalized epilepsy
+3 more
GUncertain significance
ABAT, ABCC1
+226 more
Copy number gain
not provided
GPathogenic
ABCA3, ADCY9
+187 more
Copy number gain
See cases
GPathogenic
SEPTIN12, SMIM22
+18 more
Copy number gain
not specified
GUncertain significance
JPT2, KCTD5
+188 more
Copy number gain
not provided
GPathogenic
ABAT, ABCC1
+252 more
Copy number gain
See cases
GPathogenic
ABCA3, ADCY9
+188 more
Copy number gain
not provided
GPathogenic
CORO7-PAM16, CREBBP
+21 more
Duplication
Amelocerebrohypohidrotic syndrome
GUncertain significance
ADCY9, ALG1
+30 more
Copy number gain
not provided
GPathogenic
ABAT, ABCA3
+206 more
Copy number gain
not provided
GPathogenic
ABAT, ABCA3
+198 more
Copy number gain
See cases
GPathogenic
ADCY9, ALG1
+50 more
Copy number loss
See cases
GPathogenic
ABAT, ABCA3
+295 more
Copy number gain
See cases
GPathogenic
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
PRSS27, PRSS33
+263 more
Copy number gain
See cases
GPathogenic
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