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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126860438, LOC126860439
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3663 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC105379224, LOC105379230
+3657 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3661 more
Copy number gain
See cases
GPathogenic
LOC129999966, LOC129999967
+3111 more
Copy number gain
See cases
GPathogenic
LOC126860489, LOC126860490
+1963 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+421 more
Copy number gain
See cases
GPathogenic
ADHFE1, ARFGEF1
+417 more
Copy number gain
See cases
GPathogenic
LOC130000591, LOC130000592
+470 more
Copy number gain
See cases
GPathogenic
ARFGEF1, ARFGEF1-DT
+245 more
Copy number gain
See cases
GPathogenic
C8orf89, ELOC
+78 more
Copy number gain
See cases
GPathogenic
CASC9, CHMP4C
+169 more
Copy number loss
See cases
GPathogenic
ELOC, GDAP1
+19 more
Deletion
Charcot-Marie-Tooth disease axonal type 2K
GUncertain significance
LOC130000646, LOC130000647
+191 more
Copy number loss
See cases
GPathogenic
ELOC, GDAP1
+21 more
Copy number loss
See cases
GUncertain significance
GDAP1, JPH1
+13 more
Duplication
Charcot-Marie-Tooth disease type 4A
GUncertain significance
LY96
(I46V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
LY96
(N77H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LY96
(T54I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LY96
(G80R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LY96
(P157L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PREX2, PRKDC
+240 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
ELOC, LY96
+3 more
Copy number gain
not provided
GUncertain significance
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
LY96, TMEM70
Deletion
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
GPathogenic
GDAP1, JPH1
+2 more
Duplication
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
+1 more
GUncertain significance
GDAP1, JPH1
+2 more
Duplication
Mitochondrial complex V (ATP synthase) deficiency nuclear type 2
+1 more
GUncertain significance
BAALC, CNOT7
+665 more
Copy number gain
not provided
GPathogenic
HSF1, HTRA4
+474 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+593 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
See cases
GPathogenic
FGF20, FGFR1
+665 more
Copy number gain
See cases
GPathogenic
SCRT1, SCX
+665 more
Copy number gain
See cases
GPathogenic
RPL7, XKR9
+34 more
Copy number gain
See cases
GLikely pathogenic
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