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Items: 71

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
+184 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, 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
ARPC4, ARPC4-TTLL3
+190 more
Copy number gain
See cases
GLikely pathogenic
ARPC4, ARPC4-TTLL3
+146 more
Copy number gain
See cases
GLikely pathogenic
ARPC4, ARPC4-TTLL3
+68 more
Copy number gain
See cases
GUncertain significance
ARPC4, ARPC4-TTLL3
+81 more
Copy number gain
See cases
GUncertain significance
ARPC4, ARPC4-TTLL3
+40 more
Copy number gain
See cases
GUncertain significance
CPNE9, LHFPL4
+19 more
Copy number gain
See cases
GUncertain significance
ARPC4, ARPC4-TTLL3
+48 more
Copy number loss
See cases
GPathogenic
ARPC4, ARPC4-TTLL3
+118 more
Copy number loss
See cases
GPathogenic
LHFPL4
(K210Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(E208D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(V140I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(K126N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(V124L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(S114A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LHFPL4
(C112F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(F97L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LHFPL4
(S90G)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
LHFPL4
(K55R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ARPC4, ARPC4-TTLL3
+29 more
Duplication
not provided
GUncertain significance
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
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
ARL8B, ARPC4
+55 more
Copy number loss
not provided
GPathogenic
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
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
+20 more
Duplication
Long QT syndrome
GUncertain significance
ARPC4, ARPC4-TTLL3
+38 more
Duplication
Atrioventricular septal defect, susceptibility to, 2
GUncertain significance
ARPC4, ARPC4-TTLL3
+16 more
Copy number gain
not provided
GUncertain significance
CAV3, LHFPL4
+6 more
Duplication
Long QT syndrome
GUncertain significance
ARL8B, ARPC4
+45 more
Copy number loss
not provided
GPathogenic
THUMPD3, GRM7
+9 more
Copy number gain
not provided
GUncertain significance
ARPC4, ARPC4-TTLL3
+16 more
Copy number gain
not provided
GUncertain significance
BRPF1, IL17RE
+33 more
Duplication
Neurodevelopmental disorder
GUncertain significance
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
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
LHFPL4, SETD5
+1 more
Copy number loss
See cases
GLikely pathogenic
TRIM71, TRNT1
+145 more
Copy number gain
See cases
GPathogenic
LHFPL4, SETD5
+1 more
Copy number gain
See cases
GLikely benign
SETD5, LHFPL4
Copy number gain
See cases
GUncertain significance
ARPC4, ARPC4-TTLL3
+39 more
Copy number loss
See cases
GPathogenic
MTMR14, IL17RC
+21 more
Copy number gain
See cases
GLikely pathogenic
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