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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MAP1A
(Y1011C +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GLikely benign
MAP1A
(N1078K +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GLikely benign
MAP1A
(L2057R +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GUncertain significance
MAP1A
(P2076S +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GUncertain significance
MAP1A
(A2201V +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GUncertain significance
MAP1A
Deletion
(inframe_deletion)
MAP1A-related disorder
GUncertain significance
MAP1A
(W2301* +1 more)
Single nucleotide variant
(nonsense)
MAP1A-related disorder
GUncertain significance
MAP1A
Single nucleotide variant
(synonymous variant)
MAP1A-related disorder
GLikely benign
MAP1A
(S2524T +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GUncertain significance
MAP1A
(R2574H +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GLikely benign
MAP1A
(K2614Q +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GUncertain significance
MAP1A
(R2734Q +1 more)
Single nucleotide variant
(missense variant)
MAP1A-related disorder
GUncertain significance
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