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Items: 1 to 100 of 121

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AADAT, ABCE1
+1310 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+1245 more
Copy number gain
See cases
GPathogenic
QKILA, RAB33B
+1102 more
Copy number gain
See cases
GPathogenic
LOC129993091, LOC129993092
+1068 more
Copy number gain
See cases
GPathogenic
LOC132090717, LOC132090718
+1051 more
Copy number gain
See cases
GPathogenic
LOC129993335, LOC129993336
+1026 more
Copy number gain
See cases
GPathogenic
AADAT, ABCE1
+903 more
Copy number gain
See cases
GPathogenic
LOC123493228, LOC123493229
+481 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+553 more
Copy number gain
See cases
GPathogenic
MTNR1A, NAF1
+535 more
Copy number gain
See cases
GPathogenic
LOC129993482, LOC129993483
+509 more
Copy number loss
See cases
GPathogenic
LOC129993424, LOC129993425
+485 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+466 more
Copy number loss
See cases
GPathogenic
AADAT, ADAM29
+178 more
Copy number loss
See cases
GPathogenic
LOC129993469, LOC129993470
+455 more
Copy number loss
See cases
GPathogenic
LOC129993480, LOC129993481
+451 more
Copy number gain
See cases
GPathogenic
AADAT, ACSL1
+386 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
SAP30-DT, SCRG1
+401 more
Copy number gain
See cases
GUncertain significance
LOC126807230, LOC126807231
+383 more
Copy number loss
See cases
GPathogenic
UFSP2, VEGFC
+375 more
Copy number loss
See cases
GPathogenic
ADAM29, AGA
+85 more
Copy number loss
See cases
GPathogenic
MIR4455, MIR548T
+369 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+372 more
Copy number loss
See cases
GPathogenic
HAND2
(Q217P)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HAND2
(K216N)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HAND2
(K216R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2
(K198N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2
(S195R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2
(T192P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2
Single nucleotide variant
(intron variant)
not provided
GBenign/Likely benign
HAND2, HAND2-AS1
(K168R)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
HAND2-AS1, HAND2
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
HAND2, HAND2-AS1
(G162S)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
HAND2, HAND2-AS1
(S136fs)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely pathogenic
HAND2, HAND2-AS1
(V129I)
Single nucleotide variant
(missense variant)
HAND2-related disorder
GUncertain significance
HAND2, HAND2-AS1
(N128S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
(L122P)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
HAND2-related disorder
GLikely benign
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HAND2, HAND2-AS1
(P97R)
Single nucleotide variant
(missense variant)
HAND2-related disorder
GUncertain significance
HAND2, HAND2-AS1
(P95A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2, HAND2-AS1
(P95fs)
Deletion
(frameshift variant)
HAND2-related disorder
GUncertain significance
HAND2, HAND2-AS1
(G93W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2, HAND2-AS1
(G93R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
(P90R)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HAND2, HAND2-AS1
(A87S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
HAND2-related disorder
GLikely benign
HAND2, HAND2-AS1
(V83L)
Single nucleotide variant
(missense variant)
HAND2-related disorder
GUncertain significance
HAND2, HAND2-AS1
(A72V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
(A72T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HAND2, HAND2-AS1
(A69D)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
HAND2, HAND2-AS1
(E67*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1A
GPathogenic
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HAND2, HAND2-AS1
(W46*)
Single nucleotide variant
(nonsense)
not provided
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HAND2, HAND2-AS1
(E38Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
HAND2, HAND2-AS1
(S36N)
Single nucleotide variant
(missense variant)
not provided
GBenign
HAND2, HAND2-AS1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Deletion
(inframe_deletion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Deletion
(inframe_deletion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Deletion
(inframe_deletion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Deletion
(inframe_deletion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Microsatellite
(inframe_insertion)
not provided
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HAND2, HAND2-AS1
(A23V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
(A22T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAND2, HAND2-AS1
(A21G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
(A21T)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HAND2, HAND2-AS1
(H15R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HAND2, HAND2-AS1
(P8L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
(P8S)
Single nucleotide variant
(missense variant)
HAND2-related disorder
GUncertain significance
HAND2, HAND2-AS1
(G5S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
HAND2, HAND2-AS1
Single nucleotide variant
(non-coding transcript variant)
not provided
GBenign
ADAM29, CEP44
+9 more
Deletion
not provided
GUncertain significance
ADAM29, AGA
+17 more
Copy number gain
not provided
GPathogenic
FAT1, FAT4
+197 more
Copy number gain
not specified
GPathogenic
AADAT, ACSL1
+85 more
Copy number loss
not specified
GPathogenic
AADAT, ABCE1
+286 more
Copy number gain
not specified
GPathogenic
ENPP6, F11
+68 more
Copy number loss
not provided
GPathogenic
HPGDS, SCRG1
+537 more
Copy number gain
not provided
GPathogenic
GLRA3, GPM6A
+27 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ACSL1
+69 more
Copy number gain
not provided
GPathogenic
CEP44, FBXO8
+2 more
Deletion
not provided
GPathogenic
AADAT, ACSL1
+69 more
Copy number loss
See cases
GPathogenic
CYP4V2, HAND2
+93 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+86 more
Copy number gain
not specified
GPathogenic
AADAT, ADAM29
+35 more
Copy number loss
See cases
GPathogenic
SCRG1, SH3RF1
+79 more
Copy number loss
not provided
GPathogenic
AADAT, ABCE1
+163 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+131 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+65 more
Copy number gain
not provided
GPathogenic
CPE, DDX60
+36 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+70 more
Copy number loss
not provided
GPathogenic
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