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Items: 54

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
ESRRB, EVL
+1421 more
Copy number gain
See cases
GPathogenic
ADCK1, ADSS1
+1202 more
Copy number gain
See cases
GPathogenic
LOC130056672, LOC130056673
+1071 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+880 more
Copy number gain
See cases
GPathogenic
ZFYVE21, ZNF839
+662 more
Copy number gain
See cases
GPathogenic
SNORD114-11, SNORD114-12
+754 more
Copy number loss
See cases
GPathogenic
LOC130056455, LOC130056456
+670 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+666 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+653 more
Copy number gain
See cases
GPathogenic
LOC130056511, LOC130056512
+631 more
Copy number loss
See cases
GPathogenic
BEGAIN, CINP
+215 more
Copy number loss
See cases
GPathogenic
LOC126862061, LOC126862062
+530 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+582 more
Copy number loss
See cases
GPathogenic
PPP2R5C, RCOR1
+571 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+561 more
Copy number loss
See cases
GPathogenic
ADSS1, AHNAK2
+441 more
Copy number loss
See cases
GPathogenic
LOC130056610, LOC130056611
+416 more
Copy number loss
See cases
GPathogenic
LOC105378183, LOC112163684
+164 more
Copy number loss
See cases
GPathogenic
IGHV3-38, IGHV3-43
+397 more
Copy number loss
See cases
GPathogenic
MIR4538, MIR4539
+397 more
Copy number loss
Neurodevelopmental disorder
GPathogenic
CINP
Single nucleotide variant
(3 prime UTR variant +1 more)
Seizure
+2 more
GLikely pathogenic
CINP
(R164H)
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GBenign
ADSS1, AHNAK2
+65 more
Copy number loss
not specified
GPathogenic
AMN, ANKRD9
+54 more
Copy number gain
not specified
GUncertain significance
ANKRD9, CINP
+4 more
Copy number gain
not provided
GUncertain significance
DIO3OS, WDR20
+91 more
Copy number loss
not provided
GPathogenic
ADSS1, AHNAK2
+182 more
Copy number gain
not provided
GPathogenic
ACOT4, ACOT6
+353 more
Copy number gain
not provided
GPathogenic
ADSS1, AHNAK2
+47 more
Duplication
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
ADSS1, AHNAK2
+46 more
Deletion
Charcot-Marie-Tooth disease axonal type 2O
GUncertain significance
ADSS1, AHNAK2
+185 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+447 more
Copy number gain
See cases
GPathogenic
CINP, TECPR2
Duplication
not specified
GUncertain significance
SIVA1, TDRD9
+67 more
Copy number loss
not specified
GPathogenic
COA8, JAG2
+47 more
Duplication
not provided
GUncertain significance
ADSS1, AHNAK2
+60 more
Copy number loss
not provided
GPathogenic
IGHV3-23, IGHM
+62 more
Copy number loss
not provided
GPathogenic
PPP2R5C, RCOR1
+112 more
Copy number loss
See cases
GPathogenic
ANKRD9, CDC42BPB
+5 more
Copy number gain
not provided
GUncertain significance
RCOR1, TECPR2
+2 more
Copy number gain
not provided
GUncertain significance
ADSS1, AHNAK2
+104 more
Copy number gain
not provided
GPathogenic
BTBD6, MIR369
+164 more
Copy number gain
not provided
GPathogenic
ADSS1, AHNAK2
+67 more
Copy number loss
not provided
GPathogenic
AMN, ANKRD9
+7 more
Copy number gain
not provided
GUncertain significance
ADSS1, AHNAK2
+98 more
Copy number gain
not provided
GPathogenic
AMN, TEX22
+53 more
Copy number gain
not provided
GPathogenic
ABCD4, ABHD12B
+624 more
Copy number gain
See cases
GPathogenic
ADSS1, AHNAK2
+96 more
Copy number loss
See cases
GPathogenic
ABCD4, ACOT1
+261 more
Copy number gain
See cases
GPathogenic
ANKRD9, CINP
+4 more
Copy number gain
See cases
GUncertain significance
ADSS1, AHNAK2
+62 more
Copy number loss
See cases
GPathogenic
ACTN1, ACTR10
+635 more
Copy number gain
See cases
GPathogenic
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