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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC132089226, LOC132089227
+1167 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+295 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+280 more
Copy number loss
See cases
GPathogenic
LOC129995440, LOC129995441
+864 more
Copy number gain
See cases
GPathogenic
ADRA1B, ATP10B
+111 more
Duplication
not specified
GUncertain significance
GABRA1, GABRA6
+108 more
Copy number loss
See cases
GPathogenic
ATP10B, GABRB2
+6 more
Duplication
Primary amenorrhea
GUncertain significance
ATP10B, LOC126807574
(V1020F +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP10B, LOC126807574
(D1016N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP10B, LOC126807574
(R1001H +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP10B, LOC126807574
(R1017C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP10B, LOC126807574
(R1011Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
ATP10B, LOC126807574
(I994V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP10B, LOC126807574
(S984P +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ATP10B, LOC126807574
(K956N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ATP10B, LOC126807574
(R936H +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ATP10B, LOC126807574
(E947K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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