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Items: 1 to 100 of 102

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130057927, LOC130057928
+1764 more
Copy number gain
See cases
GPathogenic
LOC116268473, LOC116268474
+1244 more
Copy number gain
See cases
GPathogenic
LOC130057943, LOC130057944
+664 more
Copy number gain
See cases
GPathogenic
LOC130057907, LOC130057908
+630 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+611 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+552 more
Copy number gain
See cases
GPathogenic
MIR11181, MIR1179
+517 more
Copy number gain
See cases
GPathogenic
LOC130057997, LOC130057998
+500 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+422 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+228 more
Copy number gain
See cases
GPathogenic
LYSMD4, MCTP2
+224 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+205 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+218 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+202 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+203 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+201 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+195 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+185 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+184 more
Copy number gain
See cases
GLikely pathogenic
ADAMTS17, ALDH1A3
+179 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+174 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+171 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+165 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+159 more
Copy number loss
See cases
GPathogenic
LOC130058070, LOC130058071
+148 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+127 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+121 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+69 more
Copy number gain
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+84 more
Copy number loss
See cases
GPathogenic
CHSY1, LOC100507472
+29 more
Copy number gain
See cases
GLikely benign
CHSY1, LOC125146369
+12 more
Copy number loss
Premature ovarian failure
GBenign
CHSY1, LOC100507472
+20 more
Copy number gain
See cases
GBenign
CHSY1, LOC100507472
+17 more
Copy number gain
See cases
GBenign
SNRPA1
(D249G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(R234C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(E233G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(G195A)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(L133S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(P108R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(V101M)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(L90V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(K67N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SNRPA1
(E53D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not provided
GPathogenic
ADAMTS17, ALDH1A3
+23 more
Copy number gain
not specified
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Deletion
not provided
GPathogenic
ABHD17C, ABHD2
+174 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+86 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+139 more
Copy number gain
not provided
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
not specified
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
not specified
GPathogenic
PCSK6, SNRPA1
Copy number loss
not provided
GUncertain significance
CHSY1, OR4F15
+6 more
Copy number gain
not provided
GUncertain significance
CHSY1, OR4F15
+6 more
Copy number gain
not provided
GLikely benign
ADAMTS17, ALDH1A3
+29 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+77 more
Copy number loss
See cases
GPathogenic
ASB7, CERS3
+12 more
Copy number loss
not provided
GUncertain significance
TARS3, PCSK6
+4 more
Copy number gain
not provided
GLikely benign
ALDH1A3, SYNM
+19 more
Copy number loss
not provided
GPathogenic
PCSK6, SNRPA1
Copy number loss
not provided
GLikely benign
OR4F15, PGPEP1L
+19 more
Copy number loss
not provided
GPathogenic
SYNM, CHSY1
+19 more
Copy number loss
not provided
GPathogenic
ABHD2, ACAN
+76 more
Copy number loss
not provided
GPathogenic
OR4F6, PCSK6
+22 more
Copy number loss
Chromosome 15q26-qter deletion syndrome
GPathogenic
CHSY1, PCSK6
+2 more
Copy number gain
not provided
GUncertain significance
CHSY1, PCSK6
+4 more
Copy number gain
not provided
GUncertain significance
ADAMTS17, ALDH1A3
+54 more
Copy number gain
not provided
GPathogenic
ADAMTS17, ALDH1A3
+22 more
Copy number loss
not provided
GPathogenic
SNRPA1, TM2D3
+6 more
Copy number gain
not provided
GLikely benign
LRRK1, SNRPA1
+3 more
Copy number gain
not provided
GLikely benign
SELENOS, TM2D3
+12 more
Copy number loss
not provided
GUncertain significance
OR4F6, MEF2A
+14 more
Copy number gain
not provided
GLikely pathogenic
ABHD2, ADAMTS17
+66 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+143 more
Copy number gain
not provided
GPathogenic
ABHD17C, ABHD2
+215 more
Copy number gain
not provided
GPathogenic
PDIA3, PEAK1
+521 more
Duplication
not provided
GPathogenic
ADAMTS17, ALDH1A3
+26 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+19 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+21 more
Copy number loss
See cases
GPathogenic
ADAMTS17, ALDH1A3
+18 more
Copy number loss
See cases
GPathogenic
CHSY1, LRRK1
+5 more
Copy number gain
See cases
GUncertain significance
ABHD17C, ABHD2
+153 more
Copy number gain
See cases
GPathogenic
AAGAB, ABHD17C
+559 more
Copy number gain
See cases
GPathogenic
NOX5, NPAP1
+559 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+12 more
Copy number loss
See cases
GUncertain significance
ALDH1A3, ASB7
+10 more
Copy number loss
See cases
GLikely benign
CERS3, CHSY1
+20 more
Copy number loss
See cases
GPathogenic
ALDH1A3, CHSY1
+8 more
Copy number loss
See cases
GUncertain significance
ADAMTS17, ALDH1A3
+19 more
Copy number loss
See cases
GPathogenic
ABHD2, ACAN
+79 more
Copy number gain
See cases
GPathogenic
CHRFAM7A, CHRM5
+566 more
Copy number gain
See cases
GPathogenic
ADAMTS17, ALDH1A3
+51 more
Copy number loss
See cases
GPathogenic
ALDH1A2, ALDH1A3
+444 more
Copy number gain
See cases
GPathogenic
ABHD2, ACAN
+87 more
Copy number gain
See cases
GPathogenic
WHAMM, CCNB2
+308 more
Copy number gain
not provided
GLikely pathogenic
TM2D3, SNRPA1
+4 more
Copy number gain
See cases
GUncertain significance
ALDH1A3, SNRPA1
+28 more
Copy number loss
See cases
GPathogenic
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