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Items: 1 to 100 of 228

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130060335, LOC130060336
+242 more
Copy number gain
See cases
GPathogenic
ADORA2B, ARHGAP44
+228 more
Duplication
not specified
GPathogenic
LOC284191, LRRC75A
+216 more
Copy number gain
See cases
GPathogenic
ADORA2B, AKAP10
+333 more
Copy number gain
See cases
GPathogenic
ADORA2B, AKAP10
+337 more
Copy number gain
See cases
GPathogenic
ADORA2B, ALKBH5
+240 more
Copy number gain
See cases
GPathogenic
LOC126862516, LOC126862517
+314 more
Copy number loss
See cases
GPathogenic
LOC130060335, LOC130060336
+217 more
Copy number loss
See cases
GPathogenic
FAM106C, FAM83G
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, AKAP10
+311 more
Copy number loss
See cases
GPathogenic
ADORA2B, ALKBH5
+199 more
Copy number loss
See cases
GPathogenic
ALKBH5, ATPAF2
+190 more
Copy number loss
See cases
GPathogenic
LOC130060361, LOC130060362
+281 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number gain
See cases
GPathogenic
LOC130060442, LOC130060443
+251 more
Copy number gain
See cases
GPathogenic
MYO15A, NT5M
+252 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+249 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+251 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+253 more
Copy number gain
See cases
GPathogenic
LOC130060419, LOC130060420
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+252 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
LOC130060406, LOC130060407
+248 more
Copy number gain
See cases
GPathogenic
MIR6778, MPRIP
+158 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number loss
See cases
GPathogenic
ALKBH5, ATPAF2
+141 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+248 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+247 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+250 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+252 more
Deletion
Autism
GPathogenic
DRC3, LOC130060351
+248 more
Duplication
Autism
GPathogenic
ALKBH5, ATPAF2
+138 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+243 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+244 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+243 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+245 more
Copy number gain
See cases
GPathogenic
LOC130060411, LOC130060412
+245 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+245 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+246 more
Copy number gain
See cases
GPathogenic
SLC5A10, SMCR2
+242 more
Copy number gain
See cases
GPathogenic
ALKBH5, ATPAF2
+161 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+242 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+241 more
Copy number gain
See cases
GPathogenic
AKAP10, ALDH3A1
+226 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+220 more
Copy number loss
See cases
GPathogenic
LOC130060377, LOC130060378
+143 more
Copy number loss
See cases
GPathogenic
LOC125177431, LOC125177432
+117 more
Copy number loss
See cases
GPathogenic
AKAP10, ALDH3A1
+187 more
Copy number loss
See cases
GPathogenic
ALKBH5, ATPAF2
+67 more
Copy number gain
See cases
GPathogenic
ALKBH5, ATPAF2
+70 more
Copy number gain
See cases
GLikely benign
ALKBH5, ATPAF2
+54 more
Copy number loss
See cases
GPathogenic
SREBF1
(M1009R +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(E1079K +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(E1052G +12 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
Single nucleotide variant
(intron variant)
not provided
GBenign
SREBF1
(K1046R +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(G1098S +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(R1055Q +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(R1054W +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(A1044V +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(R1009W +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(R1029W +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(R879W +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(G1004S +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SREBF1
(R1010H +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(R1010S +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(P1008L +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(P1006L +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(Q1000R +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
SREBF1
(T832P +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(S947G +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(K780M +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SREBF1
(R887W +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(E871G +11 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(A870V +11 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SREBF1
(V725I +11 more)
Single nucleotide variant
(missense variant +1 more)
Obesity
+1 more
GConflicting classifications of pathogenicity
SREBF1
(T722A +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(M839V +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(P779S +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(A706V +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SREBF1
(R812Q +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
SREBF1
(R782Q +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(V801L +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(W778R +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
SREBF1
(D647E +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
SREBF1
(L636F +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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