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Items: 1 to 100 of 128

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ASPM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
ASPM
(I3432N +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant)
Microcephaly 5, primary, autosomal recessive
+2 more
GBenign/Likely benign
ASPM
(R3304Q +1 more)
Single nucleotide variant
(missense variant)
ASPM-related condition
+3 more
GConflicting classifications of pathogenicity
ASPM
(S3297Y +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
Duplication
(intron variant)
not provided
GConflicting classifications of pathogenicity
ASPM
(C3226G +1 more)
Single nucleotide variant
(missense variant)
Microcephaly 5, primary, autosomal recessive
+3 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ASPM
(Q3180P +1 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ASPM
(L3132P +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
ASPM
(C3034Y +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASPM
(K3018E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
ASPM
(Y2989C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ASPM
(W2943* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
ASPM
Single nucleotide variant
(intron variant)
not provided
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
ASPM
(A2895T)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GUncertain significance
ASPM
(R2853W)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ASPM
(M2828T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(A2818S)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
(V2770G)
Single nucleotide variant
(missense variant +1 more)
not provided
GConflicting classifications of pathogenicity
ASPM
(M2752R)
Single nucleotide variant
(missense variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
ASPM
(R2743Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ASPM
(R2690W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
ASPM
(L2661R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(S2557C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(intron variant +1 more)
not provided
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ASPM
Single nucleotide variant
(synonymous variant +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ASPM
(Y2494H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign
ASPM
(R2492K)
Single nucleotide variant
(missense variant +1 more)
ASPM-related condition
+3 more
GConflicting classifications of pathogenicity
ASPM
(K2476N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASPM
(Q2377fs)
Duplication
(frameshift variant +1 more)
Microcephaly 5, primary, autosomal recessive
+1 more
GPathogenic/Likely pathogenic
ASPM
(R2372G)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
(M2334I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+3 more
GBenign/Likely benign
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASPM
(R2184W)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASPM
(I2113T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(D2042G)
Single nucleotide variant
(missense variant +1 more)
not specified
+4 more
GConflicting classifications of pathogenicity
ASPM
Deletion
(inframe_indel +1 more)
not provided
GUncertain significance
ASPM
(M1983L)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+1 more
GConflicting classifications of pathogenicity
ASPM
(Y1980C)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(Q1966R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ASPM
(I1945V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ASPM
(K1862E)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 5, primary, autosomal recessive
+3 more
GBenign/Likely benign
ASPM
(Q1824R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASPM
(R1818C)
Single nucleotide variant
(missense variant +1 more)
ASPM-related condition
+2 more
GConflicting classifications of pathogenicity
ASPM
(Y1784C)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
ASPM
(R1768W)
Single nucleotide variant
(missense variant +1 more)
not specified
+2 more
GUncertain significance
ASPM
(A1767P)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
ASPM
(Y1742H)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
ASPM
(R1729W)
Single nucleotide variant
(missense variant +1 more)
ASPM-related condition
+3 more
GBenign/Likely benign
ASPM
(R1713H)
Single nucleotide variant
(missense variant +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
(Q1710K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(R1667H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(M1623V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASPM
(R1599Q)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASPM
(R1578Q)
Single nucleotide variant
(missense variant +1 more)
ASPM-related condition
+2 more
GConflicting classifications of pathogenicity
ASPM
(R1531C)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASPM
(K1505N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(R1499L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ASPM
(I1494T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
ASPM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ASPM
Duplication
(inframe_insertion +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GUncertain significance
ASPM
(K1479R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
ASPM
(S1473A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(A1468T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GUncertain significance
ASPM
(K1463E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ASPM
(R1437C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ASPM
(R1405C)
Single nucleotide variant
(missense variant +1 more)
not provided
+3 more
GBenign/Likely benign
ASPM
(Y1373del)
Microsatellite
(inframe_deletion +1 more)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
ASPM
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
ASPM
Single nucleotide variant
(intron variant)
not specified
+3 more
GBenign/Likely benign
ASPM
Single nucleotide variant
(synonymous variant)
Microcephaly 5, primary, autosomal recessive
+2 more
GConflicting classifications of pathogenicity
ASPM
(M1233T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASPM
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
ASPM
(S1090F)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
ASPM
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASPM
Single nucleotide variant
(synonymous variant)
Microcephaly 5, primary, autosomal recessive
+1 more
GUncertain significance
ASPM
Single nucleotide variant
(synonymous variant)
not provided
GConflicting classifications of pathogenicity
ASPM
(D990N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
ASPM
(L972V)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
ASPM
(L893F)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
ASPM
(A881T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ASPM
(N853H)
Single nucleotide variant
(missense variant)
Microcephaly 5, primary, autosomal recessive
+1 more
GUncertain significance
ASPM
(I789V)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
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