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Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LARP6, LRRC49
(R67G +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LARP6, LRRC49
(G65R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LARP6, LRRC49
(A47V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LARP6, LRRC49
(G42R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LARP6, LRRC49
(E34K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LARP6, LRRC49
(G5R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(A249V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(L222V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(T212A)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(T145M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(A135S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(R132C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(Q105L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(R91Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(V68I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(R50L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(V29M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(A28T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(R27W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49, THAP10
(H9Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(R12Q)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(L61V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(H72R +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(L100M +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(K135T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(K170T +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(D233E +3 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
LRRC49
(M2V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(R299H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(T13M +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(R268C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(R326W +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(L98P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(N103S +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(V411I +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(L477P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(T520P +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(M542T +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(Q527H +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(E544D +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(Y570C +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LRRC49
(I348V +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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