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Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC121740684, LOC121740685
+4735 more
Copy number loss
See cases
GPathogenic
LOC111674474, LOC111674475
+2212 more
Copy number gain
See cases
GPathogenic
ALKBH4, ARMC10
+292 more
Copy number loss
See cases
GPathogenic
ALKBH4, ANKRD7
+474 more
Copy number loss
See cases
GPathogenic
DUS4L, DUS4L-BCAP29
+92 more
Copy number loss
See cases
GPathogenic
NRCAM
(V1076I +32 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(A1074T +32 more)
Single nucleotide variant
(missense variant +2 more)
NRCAM-related disorder
+1 more
GBenign
NRCAM
(V1051F +32 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(G1053E +32 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(V1039A +32 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(L1162R +32 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +2 more)
not provided
GBenign
NRCAM
(R1028Q +32 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(H1111Q +32 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NRCAM
Single nucleotide variant
(intron variant)
not provided
GLikely benign
NRCAM
(G1013D +31 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(L1056F +31 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(Q1046R +31 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(I1046F +31 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(R1042W +31 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(G1022V +8 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(R1003Q +8 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(S1056F +8 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(E1058A +7 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(E1056K +7 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +2 more)
NRCAM-related disorder
GLikely benign
NRCAM
(G893S +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(T880A +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +2 more)
NRCAM-related disorder
GLikely benign
NRCAM
(L862F +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(S937L +10 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(N897S +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(R610* +10 more)
Single nucleotide variant
(nonsense +1 more)
NRCAM-related disorder
+1 more
GPathogenic
NRCAM
(P597L +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(L596F +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(G594D +10 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
+1 more
GPathogenic
NRCAM
(K583T +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(K582E +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(E794G +10 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
+1 more
GLikely benign
NRCAM
(R791H +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(splice acceptor variant)
NRCAM-related disorder
GPathogenic
NRCAM
(R776Q +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(P854R +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(L542V +10 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
GUncertain significance
NRCAM
(N539D +10 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
(V739A +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(R852H +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
NRCAM
(R534C +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(M527V +10 more)
Single nucleotide variant
(missense variant +1 more)
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
GUncertain significance
NRCAM
Single nucleotide variant
(intron variant)
not provided
GBenign
NRCAM
(S521F +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(S804C +10 more)
Single nucleotide variant
(missense variant +1 more)
High myopia
GUncertain significance
NRCAM
(T447fs +10 more)
Indel
(frameshift variant +1 more)
NRCAM-related disorder
GPathogenic
NRCAM
(T747M +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +1 more)
NRCAM-related disorder
+1 more
GLikely benign
NRCAM
(E415V +10 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NRCAM
(S611N +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(L699M +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(G673W +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(E570K +10 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
Single nucleotide variant
(non-coding transcript variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
Microsatellite
(non-coding transcript variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
(T359A +10 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
(N310S +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(T306M +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
(P236A +8 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
NRCAM
Single nucleotide variant
(intron variant)
not provided
GBenign
NRCAM
(K516N +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
NRCAM
(V411F +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(Q401L +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(L395F +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(S186N +8 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
GBenign
NRCAM
(G398R +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(K468Q +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(E178K +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(T460A +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(N160S +8 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
+1 more
GPathogenic
NRCAM
(P144A +8 more)
Single nucleotide variant
(missense variant +1 more)
NRCAM-related disorder
GLikely benign
NRCAM
(L327V +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(Y323H +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(P386L +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign
NRCAM
(A245V +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(A263V +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
Single nucleotide variant
(intron variant)
NRCAM-related disorder
GBenign
NRCAM
(I238T +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(I18L +8 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(Q223L +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(H224L +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(D209V +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(E118K +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(R117H +2 more)
Single nucleotide variant
(missense variant +2 more)
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
GUncertain significance
NRCAM
(L196R +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(G101D +2 more)
Single nucleotide variant
(missense variant +2 more)
NRCAM-related disorder
+1 more
GPathogenic
NRCAM
(Q100E +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
NRCAM
(Q190R +2 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
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