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Items: 1 to 100 of 750

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AASDHPPT, ABCG4
+1199 more
Copy number gain
See cases
GPathogenic
BCL9L, BLID
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+769 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
LOC128772366, LOC128772367
+764 more
Copy number gain
See cases
GPathogenic
LOC130006864, LOC130006865
+763 more
Copy number gain
See cases
GPathogenic
LOC130007002, LOC130007003
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+608 more
Duplication
Schizophrenia
GLikely pathogenic
LOC130006995, LOC130006996
+551 more
Copy number loss
See cases
GPathogenic
LOC121832824, LOC124625855
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
ACAD8, ACRV1
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
LOC126861375, LOC126861376
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
ACRV1, BSX
+166 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+368 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+352 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+343 more
Copy number loss
See cases
GPathogenic
LOC121392954, LOC121832822
+312 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+299 more
Copy number loss
See cases
GPathogenic
ARHGAP32, CDON
+116 more
Copy number loss
See cases
GPathogenic
CDON
Single nucleotide variant
Holoprosencephaly sequence
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GLikely benign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GLikely benign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Deletion
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GLikely benign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GLikely benign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GBenign/Likely benign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly 11
GBenign
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Insertion
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
CDON
Insertion
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Insertion
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Indel
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Indel
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Microsatellite
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
CDON
Deletion
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
CDON
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GUncertain significance
CDON
Microsatellite
(3 prime UTR variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
CDON
Insertion
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
CDON
Insertion
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
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