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Items: 1 to 100 of 117

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
LOC126807210, LOC126807211
+1102 more
Copy number gain
See cases
GPathogenic
LOC126807213, LOC126807214
+1068 more
Copy number gain
See cases
GPathogenic
LOC132089068, LOC132089069
+1051 more
Copy number gain
See cases
GPathogenic
LOC126807202, LOC126807203
+1026 more
Copy number gain
See cases
GPathogenic
LOC129993194, LOC129993195
+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
LOC129993418, LOC129993419
+535 more
Copy number gain
See cases
GPathogenic
LOC126807277, LOC126807278
+509 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+485 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+466 more
Copy number loss
See cases
GPathogenic
AADAT, ADAM29
+178 more
Copy number loss
See cases
GPathogenic
LOC441052, LRP2BP
+455 more
Copy number loss
See cases
GPathogenic
SAP30-DT, SCRG1
+451 more
Copy number gain
See cases
GPathogenic
LOC129993473, LOC129993474
+386 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+399 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+401 more
Copy number gain
See cases
GUncertain significance
LOC129993510, LOC129993511
+383 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+375 more
Copy number loss
See cases
GPathogenic
GALNTL6-AS1, GLRA3
+85 more
Copy number loss
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number gain
See cases
GPathogenic
ACSL1, ADAM29
+369 more
Copy number loss
See cases
GPathogenic
PRIMPOL, RWDD4
+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
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
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)
HAND2-related disorder
+1 more
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-AS1, HAND2
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
(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
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
+1 more
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)
HAND2-related disorder
+1 more
GConflicting classifications of pathogenicity
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
Single nucleotide variant
(synonymous variant)
HAND2-related disorder
+1 more
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
FAM149A, FAM218A
+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
AADAT, ACSL1
+68 more
Copy number loss
not provided
GPathogenic
DDX60L, MTHFD2L
+537 more
Copy number gain
not provided
GPathogenic
ADAM29, AGA
+27 more
Copy number loss
not provided
GLikely pathogenic
AADAT, ACSL1
+69 more
Copy number gain
not provided
GPathogenic
HAND2, HPGD
+2 more
Deletion
not provided
GPathogenic
AADAT, ACSL1
+69 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+93 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+86 more
Copy number gain
not specified
GPathogenic
CLDN22, GLRA3
+35 more
Copy number loss
See cases
GPathogenic
AADAT, ACSL1
+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
AGA, ANKRD37
+65 more
Copy number gain
not provided
GPathogenic
AADAT, ADAM29
+36 more
Copy number gain
not provided
GPathogenic
AADAT, ACSL1
+70 more
Copy number loss
not provided
GPathogenic
ADAM29, AGA
+17 more
Deletion
Neurodevelopmental disorder
GPathogenic
ACSL1, ADAM29
+54 more
Copy number loss
not provided
GPathogenic
SCRG1, SAP30
+1 more
Copy number gain
not provided
GUncertain significance
HAND2, HMGB2
+4 more
Copy number gain
not provided
GUncertain significance
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