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Items: 1 to 100 of 129

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
MPZL3, MSANTD2
+769 more
Copy number gain
See cases
GPathogenic
LOC129390375, LOC129390376
+764 more
Copy number gain
See cases
GPathogenic
POU2F3, PRDM10
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+763 more
Copy number gain
See cases
GPathogenic
LOC130006854, LOC130006855
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
ACAD8, ACRV1
+551 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+549 more
Copy number loss
See cases
GPathogenic
OR8G5, PANX3
+519 more
Copy number gain
See cases
GPathogenic
LOC129390377, LOC129390378
+488 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+497 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+444 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+442 more
Copy number loss
See cases
GPathogenic
LOC130007011, LOC130007012
+440 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+439 more
Copy number loss
See cases
GPathogenic
PUS3, ROBO3
+166 more
Copy number loss
See cases
GPathogenic
ST14, ST3GAL4
+368 more
Copy number loss
See cases
GPathogenic
LOC130007071, LOC130007072
+363 more
Copy number loss
See cases
GPathogenic
ACAD8, ACRV1
+353 more
Copy number loss
See cases
GPathogenic
LOC112061823, LOC112067710
+352 more
Copy number loss
See cases
GPathogenic
TMEM218, TMEM45B
+343 more
Copy number loss
See cases
GPathogenic
LOC130007029, LOC130007030
+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
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Microsatellite
(intron variant)
not provided
GBenign
DDX25
(L4S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX25
(W6C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX25
(D9E)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX25
(R17W)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
DDX25
(S37R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DDX25
(S46F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DDX25
(S91C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
(M12T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX25
(L155F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(S159G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(L164V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(P54S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
(E74G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(P209L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(T212N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(T111I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(G257R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(H261P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(Q152R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
DDX25
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX25
(D284E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(R189C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(R313W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
(R234H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(L354F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(V374M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(R263* +1 more)
Single nucleotide variant
(nonsense)
Azoospermia
GPathogenic
DDX25
(R263P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(synonymous variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Microsatellite
(intron variant)
not provided
GBenign
DDX25
Microsatellite
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
(R320W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(K440I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
(G328S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
Single nucleotide variant
(intron variant)
not provided
GBenign
DDX25
(A472T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
DDX25
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
ABCG4, ACAD8
+177 more
Copy number gain
not provided
GPathogenic
ACAD8, ACRV1
+92 more
Copy number loss
not specified
GPathogenic
ACAD8, ACRV1
+104 more
Copy number loss
not specified
GPathogenic
ACAD8, ACRV1
+49 more
Copy number loss
not specified
GPathogenic
ACRV1, BLID
+73 more
Copy number loss
not specified
GPathogenic
AASDHPPT, ABCG4
+275 more
Duplication
not provided
GPathogenic
JHY, RPUSD4
+107 more
Copy number loss
11q partial monosomy syndrome
GPathogenic
ACRV1, CCDC15
+56 more
Deletion
not provided
GUncertain significance
ACAD8, ACRV1
+94 more
Copy number loss
not provided
GPathogenic
GRIA4, GRIK4
+956 more
Copy number gain
MISSED ABORTION
GPathogenic
ACRV1, CCDC15
+56 more
Duplication
Holoprosencephaly 11
GUncertain significance
ABCG4, ACRV1
+172 more
Copy number gain
not provided
GPathogenic
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