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Items: 1 to 100 of 107

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130000015, LOC130000016
+3658 more
Copy number gain
See cases
GPathogenic
DEFA1B, DEFA3
+3658 more
Copy number gain
See cases
GPathogenic
LOC110121192, LOC110121196
+3656 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+3652 more
Copy number gain
See cases
GPathogenic
LOC130000067, LOC130000068
+3656 more
Copy number gain
See cases
GPathogenic
GPAT4, GPAT4-AS1
+3106 more
Copy number gain
See cases
GPathogenic
LOC130000897, LOC130000898
+1960 more
Copy number gain
See cases
GPathogenic
PARP10, PCAT1
+1690 more
Copy number gain
See cases
GPathogenic
LOC130000867, LOC130000868
+1686 more
Copy number gain
See cases
GPathogenic
LOC130001282, LOC130001283
+1552 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1152 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001243, LOC130001244
+1204 more
Copy number gain
See cases
GPathogenic
ABRA, ANGPT1
+188 more
Copy number loss
See cases
GPathogenic
LOC130001328, LOC130001329
+1067 more
Copy number gain
See cases
GPathogenic
ANGPT1, EBAG9
+32 more
Copy number gain
See cases
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
(V167I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
RSPO2
(S169I +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RSPO2
(S166G +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
(A161V +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Deletion
(inframe_deletion)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
(A148T +2 more)
Indel
(missense variant)
not provided
GUncertain significance
RSPO2
(T145I +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RSPO2
Microsatellite
(intron variant)
not provided
GBenign
RSPO2
Duplication
(intron variant)
Humerofemoral hypoplasia with radiotibial ray deficiency
+2 more
GBenign
RSPO2
(T135A +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
RSPO2
(L122P +2 more)
Inversion
(missense variant)
not provided
GLikely benign
RSPO2
(L119P +2 more)
Single nucleotide variant
(missense variant)
Tetraamelia syndrome 2
+2 more
GBenign
RSPO2
(I185del +2 more)
Deletion
(inframe_deletion)
not provided
GUncertain significance
RSPO2
(T120A +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
(D116N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
(E85K +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
(S151N +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
(H149L +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
RSPO2
(M76T +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
RSPO2
(M139V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
(E137* +2 more)
Single nucleotide variant
(nonsense)
Tetraamelia syndrome 2
GPathogenic
RSPO2
(A133V +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
(G122S +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
RSPO2
Single nucleotide variant
(intron variant)
not provided
GBenign
RSPO2
(R95G +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RSPO2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
RSPO2
(C93Y +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RSPO2
(A20V +1 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
RSPO2
(R19* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
GPathogenic
RSPO2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
RSPO2
(R69C +1 more)
Single nucleotide variant
(missense variant +1 more)
Humerofemoral hypoplasia with radiotibial ray deficiency
GPathogenic
RSPO2
(M68R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
RSPO2
(R64Q)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
RSPO2
(N50Y)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
RSPO2
(G42fs)
Deletion
(5 prime UTR variant +2 more)
Tetraamelia syndrome 2
GLikely pathogenic
RSPO2
Single nucleotide variant
(intron variant)
not provided
GBenign
RSPO2, LOC124174315
Single nucleotide variant
(intron variant)
not provided
GBenign
LOC124174315, RSPO2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC124174315, RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC124174315, RSPO2
(N24K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC124174315, RSPO2
(Q22R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC124174315, RSPO2
Single nucleotide variant
(synonymous variant)
RSPO2-related condition
GLikely benign
LOC124174315, RSPO2
(N14H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
LOC124174315, RSPO2
(I12V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC124174315, RSPO2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC124174315, RSPO2
Single nucleotide variant
(5 prime UTR variant)
RSPO2-related condition
GLikely benign
RSPO2
Single nucleotide variant
(5 prime UTR variant)
not provided
GBenign
AARD, ABRA
+665 more
Copy number gain
not specified
GPathogenic
AARD, ABRA
+141 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+335 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+285 more
Copy number gain
See cases
GPathogenic
AARD, ABRA
+665 more
Copy number gain
Polydactyly
GPathogenic
FZD6, PCAT1
+236 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+28 more
Copy number loss
not specified
GPathogenic
DCAF4L2, DCSTAMP
+333 more
Copy number gain
not specified
GPathogenic
AARD, ANGPT1
+35 more
Copy number gain
not provided
GPathogenic
RSPO2
Copy number gain
not provided
GUncertain significance
EIF3E, EMC2
+1 more
Copy number gain
not provided
GUncertain significance
MICU3, MIR1234
+665 more
Copy number gain
not provided
GPathogenic
VPS13B, VPS28
+474 more
Copy number gain
not provided
GPathogenic
ABRA, ANGPT1
+20 more
Copy number loss
not provided
GUncertain significance
RSPO2
Copy number loss
not provided
GPathogenic
DCAF13, CNGB3
+105 more
Copy number gain
not provided
GPathogenic
AARD, ABRA
+277 more
Copy number gain
See cases
GPathogenic
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