U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 207

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057907, LOC130057908
+630 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
MIR11181, MIR1179
+517 more
Copy number gain
See cases
GPathogenic
LOC130057997, LOC130057998
+500 more
Copy number gain
See cases
GPathogenic
LOC130057929, LOC130057930
+311 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
LINC01579, LINC01580
+8 more
Copy number gain
See cases
GUncertain significance
LYSMD4, MCTP2
+224 more
Copy number loss
See cases
GPathogenic
LINC01579, LINC01580
+8 more
Copy number gain
See cases
GUncertain significance
LINC01579, LINC01580
+7 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
LETR1, LINC00924
+12 more
Copy number loss
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
MCTP2
(D2V)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(S7P)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(P18L)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(I21M)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R39Q)
Single nucleotide variant
(missense variant +3 more)
MCTP2-related disorder
GLikely benign
MCTP2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
MCTP2
(R46H)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely benign
MCTP2
(R47C)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R47H)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely benign
MCTP2
(A60T)
Single nucleotide variant
(missense variant +3 more)
not provided
GBenign
MCTP2
(E64A)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
MCTP2
(P71R)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(Q72R)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
MCTP2
(S80fs)
Deletion
(frameshift variant +3 more)
not provided
GLikely benign
MCTP2
(S81N)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(S94R)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
MCTP2
(A110G)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(A123T)
Single nucleotide variant
(missense variant +3 more)
not provided
GLikely benign
MCTP2
(P10T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(M11I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(G19R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(S135R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(T23M)
Single nucleotide variant
(synonymous variant +3 more)
MCTP2-related disorder
GLikely benign
MCTP2
(G137S)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(E34* +1 more)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(Q38R)
Single nucleotide variant
(synonymous variant +3 more)
not provided
GBenign
MCTP2
Copy number loss
See cases
GUncertain significance
MCTP2
(S82C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(E14A +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MCTP2
(P97T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MCTP2
(G203D +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
MCTP2
(L112V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R117C +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R117H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Copy number loss
See cases
GLikely benign
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MCTP2
(T133M +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
MCTP2
(V67I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(W148* +2 more)
Single nucleotide variant
(nonsense +1 more)
MCTP2-related disorder
GUncertain significance
MCTP2
(V247I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(V111I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(D130H +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(M304L +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
MCTP2
(V214L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(V142M +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MCTP2
(Q151* +2 more)
Single nucleotide variant
(nonsense +1 more)
MCTP2-related disorder
GUncertain significance
MCTP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
MCTP2
(A167T +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
MCTP2
(R340C +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R340H +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
MCTP2
(R249W +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R343Q +3 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
MCTP2
(N245D +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(I194T +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(G271E +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(P232T +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(P398L +3 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
MCTP2
(M247T +4 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(G10R +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(N13Y +4 more)
Single nucleotide variant
(missense variant +1 more)
MCTP2-related disorder
GUncertain significance
MCTP2
(H334Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
MCTP2-related disorder
GLikely benign
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
MCTP2
(A484V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(I398V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
(R329P +4 more)
Single nucleotide variant
(missense variant +1 more)
MCTP2-related disorder
GUncertain significance
MCTP2
(Y402H +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(splice donor variant)
not provided
GLikely benign
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MCTP2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
MCTP2
(A357V +4 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
MCTP2
Single nucleotide variant
(intron variant)
not provided
GBenign
Format
Items per page
Sort by
Choose Destination