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Items: 1 to 100 of 176

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FBXO5, FNDC1
+865 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+571 more
Copy number gain
See cases
GPathogenic
ACAT2, AFDN
+563 more
Copy number loss
See cases
GPathogenic
LOC129997707, LOC129997708
+548 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+539 more
Copy number loss
See cases
GPathogenic
ACAT2, AFDN
+339 more
Copy number loss
See cases
GPathogenic
C6orf118, C6orf120
+321 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+322 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+299 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+297 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+277 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+254 more
Copy number loss
Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures
GPathogenic
AFDN, AFDN-DT
+247 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+243 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+224 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+203 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+168 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+112 more
Copy number loss
See cases
GPathogenic
AFDN, AFDN-DT
+87 more
Copy number loss
See cases
GPathogenic
AFDN, C6orf120
+78 more
Copy number loss
See cases
GPathogenic
PHF10, PSMB1
+77 more
Copy number loss
See cases
GPathogenic
AFDN, DACT2
+19 more
Copy number gain
See cases
GUncertain significance
AFDN, C6orf120
+77 more
Copy number loss
See cases
GPathogenic
C6orf120, DACT2
+68 more
Copy number loss
See cases
GPathogenic
DACT2, LOC101929420
+5 more
Copy number gain
See cases
GBenign
DACT2, LOC101929420
+6 more
Copy number gain
See cases
GBenign
SMOC2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
SMOC2
(Q5*)
Single nucleotide variant
(nonsense)
not provided
GPathogenic
SMOC2
(P18A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(synonymous variant)
SMOC2-related disorder
+1 more
GLikely benign
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMOC2
(A26V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
(A45V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMOC2
(G46S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(S47L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(R63C)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMOC2
(R68H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(I78T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(R81Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
C6orf120, DLL1
+60 more
Copy number loss
See cases
GPathogenic
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
(C90Y)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMOC2
(A101V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(R102W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(I110F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(N114S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
(V134I)
Single nucleotide variant
(missense variant)
Dentin dysplasia type I
GUncertain significance
SMOC2
(G138R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMOC2
(T150M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
(K169R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
(S172F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
SMOC2
(V178I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
SMOC2
(A174T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(P182A +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(synonymous variant)
SMOC2-related disorder
GLikely benign
SMOC2
(T209A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(K202R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(S212L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C6orf120, DLL1
+60 more
Copy number loss
See cases
GPathogenic
SMOC2
Microsatellite
(intron variant)
not provided
+1 more
GLikely benign
SMOC2
(C227* +1 more)
Single nucleotide variant
(nonsense)
Dentin dysplasia, type I, with extreme microdontia and misshapen teeth
GPathogenic
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
SMOC2
(G277E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMOC2
(G271R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
SMOC2
Duplication
(intron variant)
not provided
GBenign
SMOC2
Deletion
(intron variant)
not provided
GBenign
SMOC2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
SMOC2
(E288Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(Q278K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
(C281Y +1 more)
Single nucleotide variant
(missense variant)
Dentin dysplasia type I
GUncertain significance
SMOC2
(P289S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SMOC2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
SMOC2
(R304Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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