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Items: 56

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ACTL8, AGMAT
+303 more
Copy number loss
See cases
GPathogenic
EMC1-AS1, FAM43B
+221 more
Copy number loss
See cases
GPathogenic
AKR7A2, AKR7A3
+57 more
Copy number loss
See cases
GPathogenic
CAMK2N1, CDA
+81 more
Copy number loss
See cases
GUncertain significance
RNF186, RNF186-AS1
(A227T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(Q218R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(C215F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R203Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RNF186, RNF186-AS1
(R203W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(A187V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R179Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(P175L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(I173L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(F172Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(A157V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
RNF186, RNF186-AS1
(A157T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R154H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R153W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(H149N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(H133Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(A127V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(P126S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(V124M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(P120T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(C113Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R100C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(L95F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(L69F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(I65M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R51Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(R51W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(S48G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(S33C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(S14A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(I13M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RNF186, RNF186-AS1
(L7P)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
AADACL3, AADACL4
+207 more
Copy number loss
not provided
GPathogenic
RNF186, TMCO4
Copy number loss
not specified
GUncertain significance
ACTL8, AKR7A2
+58 more
Copy number loss
not specified
GPathogenic
ACTL8, AKR7A2
+22 more
Copy number gain
not provided
GUncertain significance
ACTL8, AKR7A2
+65 more
Copy number gain
not provided
GLikely pathogenic
NOL9, TNFRSF1B
+184 more
Deletion
Chromosome 1p36 deletion syndrome
GPathogenic
AKR7A2, AKR7A3
+49 more
Duplication
Hyperprolinemia type 2
+2 more
GUncertain significance
AKR7A2, AKR7A3
+77 more
Duplication
Deficiency of hydroxymethylglutaryl-CoA lyase
GUncertain significance
ACTL8, AKR7A2
+38 more
Copy number loss
not provided
GPathogenic
FAM43B, HP1BP3
+77 more
Copy number loss
1p36.1 deletion syndrome
GPathogenic
EMC1, EPHA2
+73 more
Copy number loss
not provided
GPathogenic
AKR7A3, AKR7L
+51 more
Copy number loss
not provided
GPathogenic
PLA2G2F, PLA2G5
+8 more
Copy number gain
not provided
GUncertain significance
AGL, AGMAT
+783 more
Copy number gain
Intellectual disability, mild
+1 more
GUncertain significance
CD34, CD46
+2014 more
Copy number gain
See cases
GPathogenic
GPATCH2, GPATCH3
+2014 more
Copy number gain
See cases
GPathogenic
TMCO4, HTR6
+9 more
Copy number gain
See cases
GUncertain significance
ACTL8, AKR7A2
+88 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
IGSF21, IL22RA1
+314 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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