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Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
JPT1
(L179F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
JPT1
(S150F)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
JPT1
(A136V +2 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
JPT1
(A109V +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
JPT1
(C109F +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(L52M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(G47R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(A44G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(S42F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(S25G +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(A63V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
JPT1, LOC126862639
(M1T +1 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
JPT1, LOC126862639
(R22Q)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
ARMC7, ATP5PD
+19 more
Copy number gain
not specified
GUncertain significance
ACOX1, ARMC7
+52 more
Copy number gain
7q11.23 microduplication syndrome
GPathogenic
ARMC7, ATP5PD
+19 more
Copy number loss
not provided
GUncertain significance
ARMC7, CASKIN2
+14 more
Copy number loss
not specified
GUncertain significance
ARMC7, GGA3
+9 more
Copy number gain
not provided
GUncertain significance
ARMC7, ATP5PD
+15 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
BTBD17, ARMC7
+40 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
ARMC7, GGA3
+10 more
Copy number gain
not provided
GUncertain significance
ARMC7, ATP5PD
+13 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
ARMC7, ATP5PD
+20 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+202 more
Copy number gain
See cases
GPathogenic
ALOX12, ALOX12B
+1143 more
Copy number gain
See cases
GPathogenic
SPEM2, TBCD
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
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