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Items: 49

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
ACVR1, ACVR1C
+147 more
Copy number loss
See cases
GPathogenic
LOC129934943, LOC129934944
+74 more
Copy number loss
See cases
GPathogenic
LOC129935011, LOC129935012
+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
CYTIP
(R350C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(E318D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(C284R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(R276W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(G272D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(Y261H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(E243G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(R237W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(P232L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(P230S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(M216T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACVR1, ACVR1C
+26 more
Copy number loss
See cases
GUncertain significance
CYTIP
(L203I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(Q198R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(E173K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(T172M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(L163V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(I114M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(S105W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(S68R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP, LOC129934965
(D37N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP, LOC129934965
(G32S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP, LOC129934965
(T29I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(P22L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CYTIP
(N12K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148, CD302
+29 more
Copy number loss
not specified
GPathogenic
CYTIP, ERMN
+3 more
Copy number loss
not provided
GPathogenic
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
CYTIP, ACVR1C
+2 more
Copy number gain
See cases
GUncertain significance
GALNT5, CYTIP
+4 more
Copy number loss
not provided
GLikely pathogenic
ARL6IP6, CACNB4
+25 more
Copy number loss
not provided
GPathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
ACVR1, ACVR1C
+42 more
Copy number loss
See cases
GPathogenic
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
CYTIP, ERMN
Copy number loss
See cases
GLikely benign
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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