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Items: 93

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2, KAT14
+2522 more
Copy number gain
See cases
GPathogenic
ABHD16B, ACOT8
+1024 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+199 more
Copy number gain
See cases
GPathogenic
ADNP, ADNP-AS1
+102 more
Copy number loss
See cases
GLikely pathogenic
ABHD16B, ADNP
+635 more
Copy number gain
20q13.13qter duplication
GPathogenic
ADNP, ADNP-AS1
+63 more
Copy number loss
See cases
GPathogenic
NFATC2
(T706M +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
NFATC2
(S698A +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
Dilated cardiomyopathy 1A
GLikely pathogenic
NFATC2
(I693T +2 more)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
NFATC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
NFATC2
Duplication
(intron variant)
not provided
GBenign
NFATC2
(P880A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P879L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NFATC2
(P828L +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NFATC2
(P627L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(A818P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(C834R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(R602H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(Y793C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(Q586K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(G792S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(L543V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(V750I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NFATC2
(A748V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(R721G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(A740T +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
NFATC2
(P707L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(M506V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(V702L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P692L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(H699R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(T479I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFATC2
(T686M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(K662R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126863050, NFATC2
(H676Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126863050, NFATC2
(Y456fs +2 more)
Microsatellite
(frameshift variant)
Joint contractures, osteochondromas, and B-cell lymphoma
GPathogenic
LOC126863050, NFATC2
(R667Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126863050, NFATC2
(Y440C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126863050, NFATC2
(R432H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
LOC126863050, NFATC2
(R427Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P558R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(R572Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(S334P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(L508M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P283L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(T496I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(T465S +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
NFATC2
(I460T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(I241L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(H227R +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign/Likely benign
NFATC2
(S184N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P176S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P165R +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
NFATC2
(I164L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
NFATC2
(S107N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P300R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(R54Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(L263P +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NFATC2
(E238G +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
NFATC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
NFATC2
(P241L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(C12R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(E208K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(S6G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
NFATC2
(P198H +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(G196S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(P121L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(L109M +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(A106V +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(A106D +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(G93R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(P69L +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(P89Q +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(P69S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(S59F +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
NFATC2
(V31L +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
NFATC2
(N42K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
NFATC2
(S31F)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC130066176, NFATC2
(D14H)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
LOC130066176, NFATC2
(D11N)
Single nucleotide variant
(5 prime UTR variant +2 more)
not specified
GUncertain significance
ATP9A, NFATC2
+2 more
Copy number gain
not specified
GUncertain significance
ATP9A, NFATC2
Copy number gain
not provided
GUncertain significance
ADNP, ARFGEF2
+27 more
Duplication
not provided
GUncertain significance
ADNP, ARFGEF2
+28 more
Copy number loss
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
AAR2, ABHD12
+540 more
Copy number gain
See cases
GPathogenic
SPATA2, STAU1
+24 more
Copy number loss
See cases
GLikely pathogenic
Display optionsSort by LocationDownload
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