U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 99

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ARL8B, BHLHE40
+172 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+286 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+263 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+271 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+162 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+184 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+181 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+406 more
Copy number gain
See cases
GPathogenic
ARL8B, ARPC4
+291 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+331 more
Copy number loss
See cases
GPathogenic
ANKRD28, ARL8B
+799 more
Copy number gain
See cases
GPathogenic
LOC129936198, LOC129936199
+647 more
Copy number gain
See cases
GPathogenic
ARL8B, BHLHE40
+181 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+281 more
Copy number loss
See cases
GPathogenic
LOC129936421, LOC129936422
+962 more
Copy number gain
See cases
GPathogenic
ACAA1, ACVR2B
+1111 more
Copy number gain
See cases
GPathogenic
LOC110120630, LOC111429626
+608 more
Copy number gain
See cases
GPathogenic
ARL8B, BHLHE40
+184 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+274 more
Copy number loss
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+307 more
Copy number gain
See cases
GPathogenic
CAV3, GRM7
+25 more
Copy number gain
See cases
GUncertain significance
ARPC4, ARPC4-TTLL3
+190 more
Copy number gain
See cases
GLikely pathogenic
CAV3, LINC00312
+23 more
Copy number gain
See cases
GUncertain significance
LINC00312, LMCD1
+11 more
Copy number gain
See cases
GUncertain significance
ARPC4, ARPC4-TTLL3
+146 more
Copy number gain
See cases
GLikely pathogenic
CAV3, LINC00312
+13 more
Copy number gain
See cases
GUncertain significance
CAV3, LINC00312
+36 more
Copy number loss
See cases
GPathogenic
SSUH2
(C372R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(Y364H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(L336F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(I258T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122889024, SSUH2
(R323H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122889024, SSUH2
(A243T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122889024, SSUH2
(Q308H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122889024, SSUH2
(A233G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122889024, SSUH2
(I303V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LOC122889024, SSUH2
(R228Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(R195Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
SSUH2
(M182L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(A146V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SSUH2
(R140Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(R207H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(G193R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(H192N +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(G117S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(R110H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(R110L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(R110C +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(V101F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(V101I +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(S171L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(D150fs +1 more)
Duplication
(frameshift variant +1 more)
not provided
GLikely benign
SSUH2
(D65Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(C91Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(A82T +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SSUH2
(R7Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
(A79T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SSUH2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SSUH2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SSUH2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SSUH2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SSUH2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SSUH2
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
SSUH2
(P24L)
Single nucleotide variant
(missense variant +2 more)
not provided
GBenign
CAV3, SSUH2
(R27Q)
Single nucleotide variant
(missense variant)
Distal myopathy, Tateyama type
+6 more
GPathogenic
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ARPC4, ARPC4-TTLL3
+40 more
Copy number loss
not specified
GPathogenic
CAV3, LINC00312
+4 more
Copy number loss
not specified
GUncertain significance
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
ARL8B, ARPC4
+36 more
Deletion
not provided
GPathogenic
ARPC4, ARPC4-TTLL3
+29 more
Copy number loss
3p- syndrome
GPathogenic
CAV3, GRM7
+8 more
Deletion
not provided
GPathogenic
ARL8B, ARPC4
+55 more
Copy number loss
not provided
GPathogenic
CAV3, LINC00312
+4 more
Copy number loss
not provided
GUncertain significance
ARL8B, BHLHE40
+25 more
Copy number loss
not provided
GPathogenic
ARL8B, ARPC4
+33 more
Copy number loss
not provided
GPathogenic
JAGN1, LHFPL4
+50 more
Copy number gain
not provided
GPathogenic
SRGAP3, SSUH2
+9 more
Copy number loss
See cases
GPathogenic
SSUH2
Copy number loss
not specified
GUncertain significance
ARPC4, ARPC4-TTLL3
+28 more
Copy number loss
not specified
GPathogenic
FANCD2OS, THUMPD3
+148 more
Copy number gain
not specified
GPathogenic
ANKRD28, ARL8B
+112 more
Copy number gain
not specified
GPathogenic
ARL8B, BHLHE40
+27 more
Copy number loss
not specified
GPathogenic
ARPC4, ARPC4-TTLL3
+38 more
Duplication
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
SSUH2
Copy number loss
not provided
GLikely benign
ARL8B, ARPC4
+45 more
Copy number loss
not provided
GPathogenic
THUMPD3, GRM7
+9 more
Copy number gain
not provided
GUncertain significance
ARL8B, BHLHE40
+20 more
Deletion
Neurodevelopmental disorder
GLikely pathogenic
ANKRD28, ARL8B
+84 more
Copy number gain
not provided
GPathogenic
ANKRD28, ARL8B
+98 more
Copy number gain
not provided
GPathogenic
SUMF1, TTLL3
+41 more
Copy number loss
not provided
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
ARL8B, BHLHE40
+17 more
Copy number loss
See cases
GPathogenic
CAV3, GRM7
+6 more
Copy number gain
See cases
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
ARL8B, ARPC4
+60 more
Copy number loss
See cases
GPathogenic
TRIM71, TRNT1
+145 more
Copy number gain
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination