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Items: 84

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
NRXN1
Single nucleotide variant
(synonymous variant)
NRXN1-related condition
+4 more
GBenign/Likely benign
NRXN1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+3 more
GConflicting classifications of pathogenicity
NRXN1
(E1377D +13 more)
Single nucleotide variant
(missense variant)
Chromosome 2p16.3 deletion syndrome
+2 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
History of neurodevelopmental disorder
+3 more
GBenign/Likely benign
NRXN1
(R1207* +10 more)
Single nucleotide variant
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
(I1175V +10 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
+1 more
GConflicting classifications of pathogenicity
NRXN1
Microsatellite
(inframe_deletion +1 more)
not provided
+3 more
GBenign
NRXN1
Microsatellite
(inframe_deletion +1 more)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NRXN1
Microsatellite
(inframe_insertion +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
NRXN1
(G17V)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GBenign
NRXN1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
NRXN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
(D1143Y +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRXN1
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
NRXN1
Single nucleotide variant
(intron variant)
Pitt-Hopkins-like syndrome 2
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
(T1075A +9 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
+1 more
GUncertain significance
NRXN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
NRXN1-related condition
+4 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(intron variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
(L969F +9 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
(L909M +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+5 more
GConflicting classifications of pathogenicity
NRXN1
(R896Q +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(H885Y +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NRXN1
(A876V +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
NRXN1
Single nucleotide variant
(intron variant)
not specified
+2 more
GUncertain significance
NRXN1
(S860N +9 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NRXN1
(L818M +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(R790H +7 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
+1 more
GUncertain significance
NRXN1
(L748I +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
(P710A +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(R697W +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(I689V +7 more)
Single nucleotide variant
(missense variant)
NRXN1-related condition
+4 more
GConflicting classifications of pathogenicity
NRXN1
(Y678C +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
(P637A +7 more)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
+1 more
GUncertain significance
NRXN1
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign/Likely benign
NRXN1
(H617R +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(L607W +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
(I603T +7 more)
Single nucleotide variant
(missense variant)
NRXN1-related condition
+3 more
GConflicting classifications of pathogenicity
NRXN1
(T551A +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(P501L +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
NRXN1
Single nucleotide variant
(synonymous variant)
NRXN1-related condition
+4 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(intron variant)
not provided
+2 more
GConflicting classifications of pathogenicity
NRXN1
(V470I +7 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(P469L +7 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRXN1
(P469S +7 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GBenign/Likely benign
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
NRXN1
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GConflicting classifications of pathogenicity
NRXN1
(N294S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GUncertain significance
NRXN1
(N294D +2 more)
Single nucleotide variant
(missense variant +1 more)
Pitt-Hopkins-like syndrome 2
+2 more
GUncertain significance
NRXN1
(N293S +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
NRXN1
(D273G)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
(F261L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NRXN1
(R251H)
Single nucleotide variant
(missense variant)
Pitt-Hopkins-like syndrome 2
+1 more
GUncertain significance
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
Indel
(missense variant)
not provided
+1 more
GUncertain significance
NRXN1
(L204M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
NRXN1
(K203N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
NRXN1
(N190S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NRXN1
(S173W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GBenign/Likely benign
NRXN1
Single nucleotide variant
(synonymous variant)
NRXN1-related condition
+3 more
GConflicting classifications of pathogenicity
NRXN1
(P108S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NRXN1
(Q90H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+4 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Pitt-Hopkins-like syndrome 2
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GBenign/Likely benign
NRXN1
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+3 more
GConflicting classifications of pathogenicity
NRXN1
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
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