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Items: 1 to 100 of 110

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
+139 more
Copy number gain
See cases
GLikely pathogenic
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, BHLHE40
+126 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+291 more
Copy number loss
See cases
GPathogenic
LOC129936092, LOC129936093
+134 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
+126 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+126 more
Copy number gain
See cases
GPathogenic
ARL8B, BHLHE40
+181 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+126 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+102 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+144 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
ARL8B, BHLHE40
+141 more
Copy number loss
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
+140 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+184 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+134 more
Copy number loss
See cases
GPathogenic
ARL8B, ARPC4
+274 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+120 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+107 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+107 more
Copy number loss
See cases
GPathogenic
ARL8B, BHLHE40
+92 more
Copy number gain
See cases
GUncertain significance
ARL8B, BHLHE40
+53 more
Copy number loss
See cases
GUncertain significance
ARL8B, BHLHE40
+54 more
Copy number gain
See cases
GUncertain significance
ARL8B, BHLHE40
+33 more
Copy number gain
See cases
GUncertain significance
BHLHE40, BHLHE40-AS1
+10 more
Copy number gain
See cases
Gconflicting data from submitters
ARL8B, BHLHE40
+43 more
Copy number gain
See cases
GLikely benign
BHLHE40, BHLHE40-AS1
(P11L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40, BHLHE40-AS1
(P11R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(M33V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(V36A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(S144A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(R151Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(V178L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(A195V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(K217E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(A228T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(A277T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
BHLHE40
(P286S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(T287A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
BHLHE40
(S304R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(P310T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(G313S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(F365V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(P368S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(L375F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(L376F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
BHLHE40
(V391I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ANKRD28, ARL8B
+145 more
Copy number gain
not provided
GPathogenic
OXTR, PDCD6IP
+145 more
Copy number gain
not specified
GPathogenic
ARL8B, BHLHE40
+5 more
Copy number loss
not specified
GPathogenic
ANKRD28, ARL8B
+121 more
Copy number gain
not provided
GPathogenic
ARL8B, BHLHE40
+12 more
Copy number loss
not provided
GUncertain significance
ARL8B, ARPC4
+36 more
Deletion
not provided
GPathogenic
ARL8B, BHLHE40
+13 more
Deletion
not provided
GPathogenic
ARPC4, ARPC4-TTLL3
+29 more
Copy number loss
3p- syndrome
GPathogenic
ARL8B, BHLHE40
+10 more
Copy number gain
not provided
GUncertain significance
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
ARL8B, BHLHE40
+6 more
Copy number loss
not provided
GLikely pathogenic
JAGN1, LHFPL4
+50 more
Copy number gain
not provided
GPathogenic
ARL8B, BHLHE40
+3 more
Copy number gain
not specified
GUncertain significance
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
ARL8B, BHLHE40
+13 more
Copy number loss
not provided
GPathogenic
ARL8B, BHLHE40
+12 more
Copy number loss
Abnormal brain morphology
GPathogenic
BHLHE40, EDEM1
+1 more
Copy number gain
not provided
GUncertain significance
ARL8B, ARPC4
+45 more
Copy number loss
not provided
GPathogenic
ARL8B, BHLHE40
+12 more
Copy number loss
not provided
GPathogenic
ARL8B, BHLHE40
+13 more
Copy number loss
not provided
GPathogenic
ARL8B, BHLHE40
+13 more
Copy number loss
not provided
GPathogenic
ITPR1, BHLHE40
+2 more
Copy number gain
See cases
GUncertain significance
ARL8B, BHLHE40
+20 more
Deletion
Neurodevelopmental disorder
GLikely pathogenic
ARL8B, BHLHE40
+12 more
Copy number loss
not provided
GPathogenic
ANKRD28, ARL8B
+98 more
Copy number gain
not provided
GPathogenic
SUMF1, TTLL3
+41 more
Copy number loss
not provided
GPathogenic
CRBN, LRRN1
+13 more
Copy number loss
not provided
GPathogenic
TRNT1, SUMF1
+13 more
Copy number loss
not provided
GPathogenic
SETMAR, EDEM1
+13 more
Copy number loss
not provided
GPathogenic
EDEM1, EGOT
+13 more
Copy number loss
not provided
GPathogenic
IL5RA, BHLHE40
+11 more
Copy number loss
not provided
GPathogenic
ITPR1, SUMF1
+4 more
Duplication
not provided
GUncertain significance
ARL8B, BHLHE40
+12 more
Copy number loss
Seizure
+2 more
GLikely pathogenic
ARL8B, BHLHE40
+10 more
Copy number loss
See cases
GPathogenic
ANKRD28, APRG1
+155 more
Copy number gain
See cases
GPathogenic
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