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Items: 100

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006424, LOC130006425
+305 more
Copy number loss
See cases
GPathogenic
AAMDC, ACER3
+355 more
Copy number loss
See cases
GPathogenic
LOC130006570, LOC130006571
+474 more
Copy number loss
See cases
GPathogenic
LRRC32
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
LRRC32
(Q659P +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R543Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(C626S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(E506K +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A484T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(V592M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R479H +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R589G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A473V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
(R564Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R544* +2 more)
Single nucleotide variant
(nonsense +2 more)
Global developmental delay
+3 more
GPathogenic/Likely pathogenic
LRRC32
(A421S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(E523K +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(N410S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(L497F +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R408Q +2 more)
Single nucleotide variant
(missense variant +2 more)
LRRC32-related disorder
GLikely benign
LRRC32
(K495N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(V395D +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(M394I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(M394V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(G502R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(N391D +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(G390S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A381V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
(T461M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(P455L +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(L451V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(E448G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A352V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A352T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A350S +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
LRRC32
(R336H +2 more)
Single nucleotide variant
(missense variant +2 more)
LRRC32-related disorder
GUncertain significance
LRRC32
(R336L +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R336C +2 more)
Single nucleotide variant
(missense variant +2 more)
LRRC32-related disorder
GLikely benign
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
LRRC32
(G413D +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(G325S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
LRRC32
(G404R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R414Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R289W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
(T280M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R367Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R279W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R248C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R247W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R352Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(S223N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(I217T +2 more)
Single nucleotide variant
(missense variant +2 more)
Cleft palate, proliferative retinopathy, and developmental delay
GLikely pathogenic
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
(S205C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(G289S +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
(H181Q +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A241G +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(D238N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R141W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(L138V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(Q134R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(Q109E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(L187I +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R176C +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GLikely benign
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
Single nucleotide variant
(synonymous variant +2 more)
not provided
GLikely benign
LRRC32
(D80E +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(H159R +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(D61N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R60W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GLikely benign
LRRC32
(R144H +2 more)
Single nucleotide variant
(missense variant +2 more)
LRRC32-related disorder
GUncertain significance
LRRC32
(R166C +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R121W +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(S113N +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(V16M +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R103H +2 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
LRRC32
(A4V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(A90T +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
LRRC32
(R86W +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
LRRC32
(N83K +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
LRRC32
Single nucleotide variant
(synonymous variant +3 more)
not provided
GLikely benign
LRRC32
(S23L +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GLikely benign
LRRC32
(L38M +1 more)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
LRRC32
(M1fs)
Duplication
(frameshift variant +2 more)
not provided
GUncertain significance
LRRC32
(P25L)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
LRRC32
(A10D)
Single nucleotide variant
(missense variant +3 more)
not specified
GUncertain significance
MAML2, MAP3K11
+955 more
Copy number gain
MISSED ABORTION
GPathogenic
MMP13, MMP20
+904 more
Deletion
Intellectual disability
GPathogenic
EMSY, LRRC32
+1 more
Copy number loss
not provided
GUncertain significance
AAMDC, AASDHPPT
+261 more
Copy number gain
not provided
GPathogenic
AAMDC, AASDHPPT
+1289 more
Copy number gain
See cases
GPathogenic
SLC37A4, SNORD26
+1289 more
Copy number gain
See cases
GPathogenic
LRRC32
Copy number gain
Abnormal esophagus morphology
GLikely benign
LRRC32
(C3*)
Single nucleotide variant
Cleft palate, proliferative retinopathy, and developmental delay
GLikely pathogenic
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