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Items: 66

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+238 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+189 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+333 more
Copy number loss
See cases
GPathogenic
LOC132088765, LOC132088766
+147 more
Copy number loss
See cases
GPathogenic
ACVR1, ACVR1C
+74 more
Copy number loss
See cases
GPathogenic
ABCB11, ACVR1
+530 more
Copy number gain
See cases
GPathogenic
ACVR1, ACVR1C
+275 more
Copy number gain
See cases
GPathogenic
ACVR1C, LOC129934963
+61 more
Deletion
Autism spectrum disorder
GLikely pathogenic
GPD2
(T10M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
Single nucleotide variant
(synonymous variant)
GPD2-related condition
GLikely benign
GPD2
(G78E)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPD2
(A85V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(D101E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPD2
(M136I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
Single nucleotide variant
(synonymous variant)
GPD2-related condition
GLikely benign
GPD2
(V194I)
Single nucleotide variant
(missense variant)
GPD2-related condition
GBenign
GPD2
(P205L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GPD2
(M206V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(K211R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(N224K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(D225N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(T256I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
GPD2
(T294R)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(R298C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(R298H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(A305T)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(I308V)
Single nucleotide variant
(missense variant)
GPD2-related condition
+1 more
GBenign/Likely benign
GPD2
(I308N)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(N373S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(R391G)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
Single nucleotide variant
(synonymous variant)
GPD2-related condition
GLikely benign
GPD2
(Q414E)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(I416V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(L479I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
GPD2
(E492K)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(M511I)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(A512S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(V549M)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(R557C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(L576V)
Single nucleotide variant
(missense variant)
GPD2-related condition
GLikely benign
GPD2
(E602D)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(S616P)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(F635S)
Single nucleotide variant
(missense variant)
Type 2 diabetes mellitus
GPathogenic
GPD2
(R695S)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
GPD2
(V716I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
CYTIP, ERMN
+3 more
Copy number loss
not provided
GPathogenic
GPD2, NR4A2
Copy number loss
not provided
GLikely pathogenic
ERMN, GALNT5
+2 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
ACVR1, ACVR1C
+9 more
Copy number loss
not provided
GPathogenic
ACVR1, ACVR1C
+8 more
Copy number loss
not provided
GPathogenic
ACVR1, ACVR1C
+17 more
Copy number gain
not provided
Gnot provided
ACVR1C, GALNT5
+8 more
Copy number loss
not provided
GLikely pathogenic
GPD2, NR4A2
Copy number gain
not provided
GUncertain significance
GALNT5, CYTIP
+4 more
Copy number loss
not provided
GLikely pathogenic
ARL6IP6, CACNB4
+25 more
Copy number loss
not provided
GPathogenic
GPD2, NR4A2
Copy number gain
not provided
GUncertain significance
GPD2, NR4A2
Copy number loss
not provided
GUncertain significance
GPD2, NR4A2
Copy number loss
not provided
GUncertain significance
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
DCAF17, DCDC2C
+1214 more
Copy number gain
See cases
GPathogenic
AAK1, AAMP
+1214 more
Copy number gain
See cases
GPathogenic
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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