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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ERLEC1, GPR75-ASB3
(G30R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPR75-ASB3, ERLEC1
(Q36H)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(K96Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(E166K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(E168D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(R205W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPR75-ASB3, ERLEC1
(V236I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(L284P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(T299A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(A306V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(I313V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
GPR75-ASB3, ERLEC1
(P317S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(V318A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(K328R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(R346L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(K306R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(H366Y +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(D368E +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(G372R +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(A336V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(P398L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ERLEC1, GPR75-ASB3
(Q456R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
GPR75-ASB3, ERLEC1
(L425I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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