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Items: 1 to 100 of 292

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AARD, ABRA
+3658 more
Copy number gain
See cases
GPathogenic
LOC129999937, LOC129999938
+3658 more
Copy number gain
See cases
GPathogenic
PKHD1L1, PKIA
+3656 more
Copy number gain
See cases
GPathogenic
LOC126860501, LOC126860502
+3652 more
Copy number gain
See cases
GPathogenic
MIR7705, MIR7848
+3656 more
Copy number gain
See cases
GPathogenic
LOC130000156, LOC130000157
+3106 more
Copy number gain
See cases
GPathogenic
LOC130001211, LOC130001212
+1690 more
Copy number gain
See cases
GPathogenic
LOC130001139, LOC130001140
+1686 more
Copy number gain
See cases
GPathogenic
LOC126860518, LOC126860519
+1552 more
Copy number gain
See cases
GPathogenic
LOC130000964, LOC130000965
+1531 more
Copy number gain
See cases
GPathogenic
LOC130000908, LOC130000909
+1406 more
Copy number gain
See cases
GPathogenic
LOC130001371, LOC130001372
+1329 more
Copy number gain
See cases
GPathogenic
LOC130001420, LOC130001421
+1204 more
Copy number gain
See cases
GPathogenic
LOC130001415, LOC130001416
+1067 more
Copy number gain
See cases
GPathogenic
LOC124188223, LOC124188224
+961 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+746 more
Copy number gain
See cases
GPathogenic
LOC130001144, LOC130001145
+745 more
Copy number gain
See cases
GPathogenic
ADCK5, ADCY8
+567 more
Copy number gain
See cases
GPathogenic
EPPK1, ERICD
+499 more
Copy number gain
See cases
GPathogenic
TOP1MT, TRAPPC9
+373 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ADGRB1
+375 more
Copy number gain
See cases
GLikely pathogenic
ADCK5, ARHGAP39
+120 more
Copy number gain
See cases
GPathogenic
ADCK5, ARHGAP39
+74 more
Copy number loss
See cases
GBenign
ADCK5, ARHGAP39
+73 more
Copy number gain
See cases
GUncertain significance
ADCK5, ARHGAP39
+58 more
Copy number gain
See cases
GLikely benign
ADCK5, ARHGAP39
+47 more
Copy number gain
See cases
GUncertain significance
ARHGAP39, C8orf82
+21 more
Copy number gain
See cases
GBenign
FOXH1, KIFC2
(C761S)
Indel
(missense variant)
CBL-related disorder
GUncertain significance
FOXH1, KIFC2
(P831S)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GLikely benign
FOXH1, KIFC2
(P831L)
Single nucleotide variant
(3 prime UTR variant +1 more)
not specified
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GBenign
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GBenign
FOXH1, KIFC2
Deletion
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GLikely benign
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1, KIFC2
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GBenign
FOXH1
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(3 prime UTR variant)
Holoprosencephaly sequence
+2 more
GBenign
FOXH1
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GBenign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(P354S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A353T)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(A352V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(D350G)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
FOXH1
(V345I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXH1
(V343I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(D342N)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+1 more
GBenign/Likely benign
FOXH1
(P335L)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(Q332*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
FOXH1
(D328E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GBenign/Likely benign
FOXH1
(D326H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXH1
(C325Y)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(G322E)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
FOXH1
(G322V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
+1 more
GUncertain significance
FOXH1
(P320S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(W311C)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(W311*)
Single nucleotide variant
(nonsense)
FOXH1-related disorder
GUncertain significance
FOXH1
(P308L)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(T306A)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+1 more
GBenign/Likely benign
FOXH1
(P304A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXH1
(P301S)
Single nucleotide variant
(missense variant)
FOXH1-related disorder
GUncertain significance
FOXH1
(P297S)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(L293W)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(V290I)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
FOXH1
(P287S)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXH1
(T286P)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(A271V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(R270T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXH1
(G268V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
FOXH1-related disorder
GLikely benign
FOXH1
(S265Y)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(R264Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FOXH1
(R264P)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
(G262V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+2 more
GBenign/Likely benign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
GLikely benign
FOXH1
(A259V)
Single nucleotide variant
(missense variant)
Holoprosencephaly sequence
GUncertain significance
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+2 more
GBenign
FOXH1
Single nucleotide variant
(synonymous variant)
Holoprosencephaly sequence
+1 more
GBenign
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