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Items: 71

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
+674 more
Copy number gain
See cases
GPathogenic
LOC129992028, LOC129992029
+691 more
Copy number loss
See cases
GPathogenic
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
LOC129992237, LOC129992238
+861 more
Copy number gain
See cases
GPathogenic
LOC129992157, LOC129992158
+832 more
Copy number loss
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 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
FGFBP1, LOC126806998
+393 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
BST1, C1QTNF7
+98 more
Copy number loss
See cases
GPathogenic
BST1, C1QTNF7
+84 more
Copy number gain
See cases
GPathogenic
ADGRA3, ANAPC4
+201 more
Copy number loss
See cases
GPathogenic
ADGRA3, CLRN2
+60 more
Copy number loss
See cases
GUncertain significance
CLRN2
(G3V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(K7N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(F21V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(V26I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(R67Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(C69Y)
Single nucleotide variant
(missense variant)
CLRN2-related disorder
+1 more
GUncertain significance
CLRN2
(R79C)
Single nucleotide variant
(missense variant)
CLRN2-related disorder
GUncertain significance
CLRN2
(R79L)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 117
GUncertain significance
CLRN2
(L113V)
Single nucleotide variant
(missense variant)
not provided
GBenign
CLRN2
(G133R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(A144T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(A158V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(T165K)
Single nucleotide variant
(missense variant)
Hearing loss, autosomal recessive 117
GPathogenic
CLRN2
(F178S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(E183K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(V193M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(S197L)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CLRN2
(H199L)
Single nucleotide variant
(missense variant)
CLRN2-related disorder
GLikely benign
CLRN2
(V205L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(K217Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CLRN2
(T224M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+140 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
ADGRA3, BOD1L1
+26 more
Copy number loss
not provided
GLikely pathogenic
CLRN2, DCAF16
+6 more
Copy number gain
not provided
GUncertain significance
ABLIM2, ACOX3
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
ADGRA3, CCDC149
+16 more
Copy number loss
not provided
GUncertain significance
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+143 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+212 more
Copy number gain
FETAL DEMISE
GPathogenic
CLRN2, DCAF16
+6 more
Copy number gain
not specified
GUncertain significance
HGFAC, UVSSA
+141 more
Copy number loss
not provided
GPathogenic
CRMP1, RNF212
+161 more
Copy number gain
not provided
GPathogenic
RGS12, RNF212
+140 more
Copy number loss
not provided
GPathogenic
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
ADD1, ABLIM2
+146 more
Copy number loss
See cases
GPathogenic
CLRN2, DCAF16
+6 more
Copy number gain
not provided
GLikely benign
ABLIM2, ACOX3
+161 more
Copy number gain
not provided
GPathogenic
CD38, FAM200B
+25 more
Copy number loss
not provided
GUncertain significance
ADGRA3, ANAPC4
+42 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+108 more
Copy number loss
not provided
GPathogenic
GABRA2, GABRA4
+226 more
Copy number gain
not provided
GPathogenic
CLRN2, DCAF16
+6 more
Copy number gain
See cases
GUncertain significance
HTRA3, HTT
+267 more
Copy number gain
See cases
GPathogenic
C4orf51, CABS1
+745 more
Copy number gain
See cases
GPathogenic
NAA11, NAA15
+745 more
Copy number gain
See cases
GPathogenic
HELT, HERC3
+744 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
See cases
GPathogenic
BOD1L1, LDB2
+161 more
Copy number loss
See cases
GPathogenic
LAP3, CC2D2A
+71 more
Copy number gain
See cases
GPathogenic
QDPR, FAM184B
+3 more
Copy number gain
Abnormal esophagus morphology
GLikely benign
C4orf50, EVC
+140 more
Copy number loss
See cases
GPathogenic
LDB2, MED28
+5 more
Copy number gain
See cases
GUncertain significance
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