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Items: 98

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CABIN1
(R51W)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R144C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R144H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P155H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S212F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S222L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CABIN1
(R247K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CABIN1
(L250P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CABIN1
(M280T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(K296E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(D249N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P259T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(L260P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CABIN1
(M314V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CABIN1
(A284S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P301A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S304R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(V377L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(M365V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CABIN1
(P504S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(V464I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CABIN1
(G561S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P568R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(N577D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R616C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A626V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(M631V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(Y588S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(V653M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R615Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(I630V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S669G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(T681I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(K701R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(D751G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(V809L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R803W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P886L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S967L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(D922N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(I974T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(K1010R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(I962T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1021S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S975N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(L976P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(K1028R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P994S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A1047S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(D1048A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A1074V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(N1087S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(I1118V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1080C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1081W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(Q1174R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(D1200G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(H1229Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(H1185D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(L1275V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A1316P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(Q1368E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1324Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S1337G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(G1428V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P1470S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(Q1445L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(Q1454K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1472H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(Q1615H +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P1632A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(E1701D +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1704W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(L1723F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1725Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P1731S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
CABIN1
(S1742N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(T1761P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A1773T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P1789S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1792G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(E1801G +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1958Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(H1913Y +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R1917L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P1981L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(K1942E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P2028L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(P2053L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(G2070R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(R2028S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(G2030A +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A2082V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A2036S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(S2044P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(T2047S +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CABIN1
(A2103V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
CABIN1
(S2131F +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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