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Links from Gene

Items: 45

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RPL17, RPL17-C18orf32
(K36N +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPL17, RPL17-C18orf32
Single nucleotide variant
(intron variant)
Diamond-Blackfan anemia
GLikely pathogenic
RPL17, RPL17-C18orf32
(T113fs +3 more)
Deletion
(frameshift variant)
High forehead
+9 more
GLikely pathogenic
RPL17, RPL17-C18orf32
(Q18L +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
RPL17, RPL17-C18orf32
(M171T +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
RPL17, RPL17-C18orf32
(N64S +3 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CABYR, CBLN2
+267 more
Copy number gain
Trisomy 18
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
not specified
GPathogenic
ACAA2, C18orf32
+14 more
Duplication
not provided
GUncertain significance
AKAIN1, LIPG
+174 more
Deletion
Intellectual disability
GPathogenic
MAPRE2, TSHZ1
+176 more
Copy number gain
not provided
GPathogenic
ACAA2, ANKRD29
+97 more
Copy number gain
not provided
GPathogenic
ACAA2, ALPK2
+66 more
Copy number gain
not provided
GPathogenic
ACAA2, ADNP2
+107 more
Copy number loss
not provided
GPathogenic
ACAA2, ATP5F1A
+55 more
Copy number gain
not provided
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+150 more
Copy number gain
See cases
GPathogenic
TMX3, TNFRSF11A
+128 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+121 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+163 more
Copy number gain
See cases
GPathogenic
ACAA2, ADNP2
+142 more
Copy number gain
See cases
GPathogenic
WDR7, ZCCHC2
+109 more
Copy number loss
See cases
GPathogenic
ABHD3, ACAA2
+267 more
Copy number gain
See cases
GPathogenic
RPL17, RPL17-C18orf32
Copy number gain
See cases
GBenign/Likely benign
RPL17, RPL17-C18orf32
Copy number gain
See cases
GBenign
ABHD3, ACAA2
+200 more
Copy number gain
See cases
GPathogenic
TNFRSF11A, TXNL1
+267 more
Copy number gain
See cases
GPathogenic
LOC126862732, LOC126862733
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062667, LOC130062668
+1643 more
Copy number gain
See cases
GPathogenic
LOC132090510, LOC132090511
+1089 more
Copy number gain
See cases
GPathogenic
LOC130062278, LOC130062279
+1643 more
Copy number gain
See cases
GPathogenic
LOC130062694, LOC130062695
+887 more
Copy number gain
See cases
GPathogenic
LOC125368553, LOC125368554
+1643 more
Copy number gain
See cases
GPathogenic
LOC126862711, LOC126862712
+1643 more
Copy number gain
See cases
GPathogenic
LINC01929, LINC02565
+879 more
Copy number gain
See cases
GPathogenic
LOC126862796, LOC126862797
+733 more
Copy number gain
See cases
GPathogenic
ACAA2, ALPK2
+596 more
Copy number gain
See cases
GPathogenic
LOC130062787, LOC130062788
+1005 more
Copy number gain
See cases
GPathogenic
LOC130062355, LOC130062356
+1642 more
Copy number gain
See cases
GPathogenic
LOC132211113, LOC132211114
+1266 more
Copy number gain
See cases
GPathogenic
LOC126862717, LOC126862718
+1266 more
Copy number gain
See cases
GPathogenic
ANKRD12, ANKRD29
+1642 more
Copy number gain
See cases
GPathogenic
ABHD3, ACAA2
+1646 more
Copy number gain
See cases
GPathogenic
SERPINB12, SERPINB13
+1643 more
Copy number gain
See cases
GPathogenic
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