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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
SLC38A7, SLC6A2
+519 more
Duplication
not provided
GPathogenic
LOC130059125, LOC130059126
+675 more
Copy number gain
See cases
GPathogenic
MIR138-2, MIR140
+1738 more
Copy number gain
See cases
GPathogenic
ADGRG1, ADGRG3
+244 more
Copy number loss
See cases
GPathogenic
LOC130059330, LOC130059331
+599 more
Copy number gain
See cases
GPathogenic
SPMIP8
(V4F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(L12V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(I16T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R20H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
SPMIP8
(P22L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
Single nucleotide variant
(5 prime UTR variant)
not specified
GUncertain significance
SPMIP8
(R3C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R3H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(D12N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R29Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R31H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(C60S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R73H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(L84F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(G119V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(E133D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(G143R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(G143E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(E155G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059127, SPMIP8
(G159R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC130059127, SPMIP8
(Y164C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(P194L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPMIP8
(P200R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SPMIP8
(R208C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R208H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(R235P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SPMIP8
(H243Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PRMT7, PRSS54
+195 more
Duplication
Chromosome 16q12 duplication syndrome
GLikely pathogenic
ADGRG1, ADGRG3
+85 more
Copy number loss
not specified
GPathogenic
NLRC5, PLLP
+34 more
Deletion
not provided
GPathogenic
ADGRG1, ADGRG3
+54 more
Deletion
Early infantile epileptic encephalopathy with suppression bursts
+1 more
GPathogenic
AARS1, ABCC11
+368 more
Copy number gain
not provided
GPathogenic
ADGRG1, ADGRG3
+10 more
Copy number gain
not provided
GUncertain significance
CA7, COG8
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
KCTD19, KIAA0513
+368 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ABCC11, ABCC12
+100 more
Copy number gain
See cases
GPathogenic
CBLN1, CCDC102A
+591 more
Copy number gain
See cases
GUncertain significance
AARS1, ABAT
+811 more
Copy number gain
See cases
GPathogenic
CCL22, CCNF
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+292 more
Copy number gain
See cases
GPathogenic
ABCC6, BCL7C
+811 more
Copy number gain
See cases
GPathogenic
AARS1, ACD
+174 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ATXN1L, B3GNT9
+368 more
Copy number loss
Breast ductal adenocarcinoma
GUncertain significance
ADGRG5, CFAP263
+324 more
Complex
Breast ductal adenocarcinoma
GUncertain significance
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