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Items: 68

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
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
ALKBH5, DRG2
+30 more
Copy number gain
See cases
GPathogenic
LOC105371566, MYO15A
Single nucleotide variant
Hearing loss, autosomal recessive
GUncertain significance
LOC105371566, MYO15A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 3
GUncertain significance
LOC105371566, MYO15A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 3
GUncertain significance
LOC105371566, MYO15A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 3
GUncertain significance
LOC105371566, MYO15A
Single nucleotide variant
(5 prime UTR variant)
Autosomal recessive nonsyndromic hearing loss 3
GUncertain significance
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