U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 73

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
TLR10
Insertion
not provided
GUncertain significance
TLR10
Single nucleotide variant
not provided
GUncertain significance
TLR10
(I803N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(R785Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TLR10
(T776K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(A767T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(V779I +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
TLR10
(N764D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(A773T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(A769T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(D760N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(W743G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(K752R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TLR10
(T726A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(I714T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(I725V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(D723E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L653F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(G597R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TLR10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TLR10
(T527I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(N522K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(A505E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L517Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TLR10
(V424A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(P398A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(I364V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(Q370* +1 more)
Single nucleotide variant
(nonsense)
not provided
GBenign
TLR10
(I369T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L317P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(N316K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L307F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(Y320D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(T283I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(S281T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(F278Y +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(H259R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L261F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L259I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L233P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(R194S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(R194C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(I120L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(P133S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(L103W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(K82R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
TLR10
Single nucleotide variant
(synonymous variant)
not provided
GBenign
TLR10
(Y43S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(T51M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TLR10
(A30T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
FAM114A1, KLB
+9 more
Duplication
not provided
GUncertain significance
FAM114A1, KLF3
+3 more
Copy number gain
not provided
GUncertain significance
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
FAM114A1, KLHL5
+6 more
Copy number gain
not specified
GUncertain significance
KLB, UGDH
+22 more
Duplication
Lipoic acid synthetase deficiency
GUncertain significance
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
FAM114A1, KLHL5
+6 more
Copy number gain
not provided
GUncertain significance
GABRA2, GABRA4
+226 more
Copy number gain
not provided
GPathogenic
HTRA3, HTT
+267 more
Copy number gain
See cases
GPathogenic
AADAT, AASDH
+745 more
Copy number gain
See cases
GPathogenic
MRPL1, MSANTD1
+745 more
Copy number gain
See cases
GPathogenic
H2AZ1, HADH
+744 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
CHRNA9, CWH43
+54 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination