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Items: 1 to 100 of 113

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126861920, LOC126861921
+3280 more
Copy number gain
See cases
GPathogenic
GSC, GSC-DT
+3275 more
Copy number gain
See cases
GPathogenic
LRR1, MAP4K5
+394 more
Copy number gain
See cases
GLikely pathogenic
KLHDC2, NEMF
(D328N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NEMF, KLHDC2
(R366W)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NEMF, KLHDC2
(W383R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NEMF, KLHDC2
(N384K)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
KLHDC2, NEMF
(D1033G +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
Single nucleotide variant
(3 prime UTR variant +1 more)
NEMF-related condition
+1 more
GBenign
KLHDC2, NEMF
(T1019I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
(H1014Y +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
(M1034I +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
(M1034T +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
(A975V +1 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Inborn genetic diseases
GUncertain significance
KLHDC2, NEMF
(S961fs +1 more)
Deletion
(3 prime UTR variant +1 more)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GLikely pathogenic
NEMF
(N954I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(Q973E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Duplication
(nonsense)
See cases
GPathogenic
NEMF
(I928V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
(P905L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
NEMF
(K902fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
NEMF
(I873T +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(K852fs +1 more)
Deletion
(frameshift variant)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GPathogenic
NEMF
(R870* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GPathogenic
NEMF
(K839N +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NEMF
(T858I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEMF
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NEMF
(P830L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(L808fs +1 more)
Duplication
(frameshift variant)
not provided
GPathogenic
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
(Q811fs +1 more)
Microsatellite
(frameshift variant)
Malignant tumor of prostate
GUncertain significance
NEMF
(E800Q +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(S785P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(E752K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NEMF
(Y754C +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(T703M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(G680R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(splice acceptor variant)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GLikely pathogenic
NEMF
(I691V +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(L669fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
NEMF
(R674fs +1 more)
Duplication
(frameshift variant)
Inborn genetic diseases
GPathogenic
NEMF
(K672* +1 more)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GPathogenic
NEMF
(R650* +1 more)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NEMF
Single nucleotide variant
(intron variant)
NEMF-related condition
+1 more
GBenign
NEMF
Single nucleotide variant
(intron variant)
NEMF-related condition
+1 more
GLikely benign
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GBenign
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
Deletion
(intron variant)
not provided
GBenign
NEMF
Single nucleotide variant
(intron variant)
not provided
GBenign
NEMF
Single nucleotide variant
(intron variant)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GUncertain significance
NEMF
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NEMF
(D562N)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
NEMF
(N550S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
(Y470*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
NEMF
(Y470F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(K457R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
NEMF
Deletion
(nonsense)
NEMF-related condition
GLikely pathogenic
NEMF
(Q445fs)
Deletion
(frameshift variant)
not provided
GPathogenic
NEMF
(N429H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Deletion
(inframe_deletion)
Inborn genetic diseases
GUncertain significance
NEMF
(L415F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(P413fs)
Insertion
(frameshift variant)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GPathogenic
NEMF
(N412fs)
Insertion
(frameshift variant)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GPathogenic
NEMF
Single nucleotide variant
(intron variant)
NEMF-related condition
GLikely benign
NEMF
(R411G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
(I378V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(Q356*)
Single nucleotide variant
(nonsense)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GPathogenic
NEMF
(K347R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(E331K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(R327Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEMF
(G305D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(A295V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
GLikely benign
NEMF
(S279F)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(F278I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(splice acceptor variant)
See cases
GLikely pathogenic
NEMF
(D261G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(V225L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(D221V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(G209S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
NEMF
(Y193C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Single nucleotide variant
(splice donor variant)
Intellectual developmental disorder with speech delay and axonal peripheral neuropathy
GLikely pathogenic
NEMF
(V186M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(S176N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
Deletion
(nonsense)
Inborn genetic diseases
GPathogenic
NEMF
(P163H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
NEMF
(R152C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NEMF
(K146fs)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
NEMF
Single nucleotide variant
(intron variant)
NEMF-related condition
GBenign
NEMF
(R79*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
NEMF
Single nucleotide variant
(intron variant)
NEMF-related condition
GBenign
NEMF
Single nucleotide variant
(synonymous variant)
NEMF-related condition
+1 more
GBenign
NEMF
(I56V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
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