U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from Gene

Items: 58

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PACRGL
(K13T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACRGL
(E88K +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PACRGL
(L120F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PACRGL
(T45A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACRGL
(S4L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
KCNIP4, PACRGL
(T107N +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM2, ACOX3
+143 more
Copy number loss
not specified
GPathogenic
ABLIM2, ACOX3
+226 more
Copy number gain
not specified
GPathogenic
KCNIP4, PACRGL
Single nucleotide variant
(intron variant)
KCNIP4-related disorder
GBenign
ADGRA3, BOD1L1
+26 more
Copy number loss
not provided
GLikely pathogenic
PACRGL
(Q37K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC129992561, LOC129992562
+1409 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC129992261, LOC129992262
+962 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
LOC123477714, LOC123477715
+1267 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
RNF212, RNF4
+162 more
Copy number gain
4p16.3 microduplication syndrome
GPathogenic
PACRGL
(H116L +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACRGL
(V36I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACRGL
(S39N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
FGFBP1, LOC126806998
+393 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
KCNIP4, PACRGL
(N112S +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PACRGL
(P116T +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
PACRGL
(T24P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACRGL
(T149P +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
PACRGL
(H101R +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
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
ADGRA3, ANAPC4
+23 more
Copy number loss
not specified
GPathogenic
FGFBP2, SMIM20
+161 more
Copy number gain
not provided
GPathogenic
PACRGL, SLIT2
+1 more
Copy number gain
not provided
GUncertain significance
KLF3, KLHL5
+226 more
Copy number gain
See cases
GPathogenic
ADD1, ABLIM2
+146 more
Copy number loss
See cases
GPathogenic
ADGRA3, ANAPC4
+19 more
Copy number loss
not provided
GPathogenic
ABLIM2, ACOX3
+161 more
Copy number gain
not provided
GPathogenic
CPEB2, ADGRA3
+25 more
Copy number loss
not provided
GUncertain significance
KCNIP4, PACRGL
Single nucleotide variant
(intron variant)
not provided
GBenign
ADGRA3, DHX15
+5 more
Copy number loss
4p partial monosomy syndrome
GPathogenic
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
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
BOD1L1, LDB2
+161 more
Copy number loss
See cases
GPathogenic
KCNIP4, LOC105374511
+13 more
Copy number loss
See cases
GUncertain significance
ADGRA3, CLRN2
+60 more
Copy number loss
See cases
GUncertain significance
KCNIP4, LOC132089113
+1 more
Copy number loss
See cases
GUncertain significance
LOC126806993, LOC126806994
+702 more
Copy number gain
See cases
GPathogenic
LOC129992145, LOC129992146
+1209 more
Copy number gain
See cases
GPathogenic
ADGRA3, ANAPC4
+201 more
Copy number loss
See cases
GPathogenic
ABLIM2, ACOX3
+1039 more
Copy number gain
See cases
GPathogenic
SOD3, SORCS2
+987 more
Copy number gain
See cases
GPathogenic
ABLIM2, ACOX3
+716 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
Format
Items per page
Sort by
Choose Destination