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Items: 1 to 100 of 565

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
LOC129998995, LOC129998996
+2212 more
Copy number gain
See cases
GPathogenic
LOC129999548, LOC129999549
+1547 more
Copy number gain
See cases
GPathogenic
CADPS2, CALD1
+1380 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1176 more
Copy number gain
See cases
GPathogenic
TMEM139-AS1, TMEM140
+1052 more
Copy number gain
See cases
GPathogenic
MIR5707, MIR595
+1046 more
Copy number gain
See cases
GPathogenic
LOC123956245, LOC123956246
+1025 more
Copy number gain
See cases
GPathogenic
LOC285889, LOC349160
+1025 more
Copy number gain
See cases
GPathogenic
ABCB8, ABCF2
+1019 more
Copy number gain
See cases
GPathogenic
LOC129999467, LOC129999468
+944 more
Copy number loss
See cases
GPathogenic
LOC129999526, LOC129999527
+908 more
Copy number gain
See cases
GPathogenic
AGAP3, AGK
+888 more
Copy number gain
Neurodevelopmental disorder
GPathogenic
DYNC2I1, EN2
+847 more
Copy number gain
Neurodevelopmental disorder
GLikely pathogenic
LOC129999649, LOC129999650
+737 more
Copy number loss
See cases
GPathogenic
LOC129389950, LOC129999513
+707 more
Copy number loss
See cases
GPathogenic
LOC129389931, LOC129389932
+573 more
Copy number loss
See cases
GPathogenic
TRC-GCA22-1, TRC-GCA23-1
+540 more
Copy number loss
See cases
GPathogenic
LOC129999578, LOC129999579
+538 more
Copy number loss
See cases
GLikely pathogenic
ABCB8, ABCF2
+533 more
Copy number loss
See cases
GPathogenic
ATG9B, ATP6V0E2
+473 more
Copy number loss
See cases
GPathogenic
LOC129389937, LOC129389938
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+526 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+407 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+375 more
Copy number loss
See cases
GPathogenic
ABCB8, ABCF2
+351 more
Copy number loss
See cases
GPathogenic
LOC129999684, LOC129999685
+315 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+271 more
Copy number loss
See cases
GPathogenic
RBM33, RBM33-DT
+226 more
Copy number loss
See cases
GPathogenic
LOC129999707, LOC129999708
+225 more
Copy number gain
See cases
GPathogenic
ACTR3B, BLACE
+190 more
Deletion
Autism
GLikely pathogenic
ACTR3B, BLACE
+207 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+204 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+205 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+195 more
Copy number loss
See cases
GPathogenic
BLACE, CNPY1
+193 more
Copy number loss
Holoprosencephaly 3
GPathogenic
BLACE, CNPY1
+186 more
Copy number loss
See cases
GPathogenic
LOC123956282, LOC123956283
+173 more
Copy number loss
See cases
GPathogenic
ESYT2, INSIG1
+161 more
Copy number loss
See cases
GPathogenic
CNPY1, DNAJB6
+156 more
Copy number gain
See cases
GLikely pathogenic
CNPY1, DNAJB6
+150 more
Copy number loss
See cases
GPathogenic
DNAJB6, DYNC2I1
+148 more
Copy number loss
See cases
GPathogenic
LINC00244, LOC106049962
+28 more
Copy number gain
See cases
GUncertain significance
SHH
(C157*)
Single nucleotide variant
(3 prime UTR variant +2 more)
Partial agenesis of the corpus callosum
GPathogenic
SHH
(G136R)
Single nucleotide variant
(3 prime UTR variant +2 more)
not provided
GBenign
SHH
Single nucleotide variant
(3 prime UTR variant +2 more)
SHH-related condition
GLikely benign
SHH
(F130L)
Single nucleotide variant
(3 prime UTR variant +2 more)
SHH-related condition
GLikely benign
SHH
Single nucleotide variant
(3 prime UTR variant +2 more)
SHH-related condition
GLikely benign
SHH
Single nucleotide variant
(3 prime UTR variant +2 more)
SHH-related condition
GLikely benign
SHH
(P123L)
Single nucleotide variant
(3 prime UTR variant +2 more)
SHH-related condition
+1 more
GLikely benign
SHH
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SHH
Microsatellite
(3 prime UTR variant +1 more)
not provided
GBenign
SHH
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SHH
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SHH
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
GLikely benign
SHH
Duplication
(3 prime UTR variant +1 more)
not provided
GUncertain significance
SHH
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
SHH
Single nucleotide variant
(3 prime UTR variant +1 more)
SHH-related condition
GLikely benign
SHH
(M457fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
GLikely benign
SHH
(A451T)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(L447P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SHH
(W445*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
SHH
(W445*)
Single nucleotide variant
(nonsense +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(T444I)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(Q441R)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(Q437*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
SHH
(S436*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
SHH
(W434*)
Single nucleotide variant
(nonsense +1 more)
See cases
GPathogenic
SHH
(I432M)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(G431D)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SHH
Single nucleotide variant
(synonymous variant +1 more)
SHH-related condition
GLikely benign
SHH
(T429fs)
Deletion
(frameshift variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(A428T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SHH
(A428fs)
Deletion
(frameshift variant +1 more)
Acrocallosal syndrome
GUncertain significance
SHH
(G427R)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
+1 more
GUncertain significance
SHH
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
SHH
(P424L)
Single nucleotide variant
(intron variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(P424A)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GPathogenic
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
GLikely benign
SHH
Single nucleotide variant
(intron variant +1 more)
Holoprosencephaly 3
GLikely benign
SHH
(A420fs)
Duplication
(frameshift variant +1 more)
not provided
GPathogenic
SHH
Microsatellite
(inframe_insertion +1 more)
SHH-related condition
+1 more
GConflicting classifications of pathogenicity
SHH
Deletion
(inframe_deletion +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
Deletion
(inframe_deletion +1 more)
Holoprosencephaly 3
GPathogenic
SHH
(G408fs)
Indel
(frameshift variant +1 more)
not provided
GLikely pathogenic
SHH
(G407R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SHH
(D405fs)
Indel
(frameshift variant +1 more)
See cases
GPathogenic
SHH
(R406H)
Single nucleotide variant
(intron variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
Duplication
(inframe_insertion +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(G404E)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(G404R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
SHH
Single nucleotide variant
(synonymous variant +1 more)
SHH-related condition
GLikely benign
SHH
Duplication
(inframe_insertion +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(D400V)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(G399E)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 3
GUncertain significance
SHH
(G399R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
SHH
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 3
GLikely benign
SHH
(R394L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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