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Items: 51

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
ERMN
(S269Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(S228N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(I217T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(D177G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(N173D +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
ERMN
(D191G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(D168G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(D182V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(G151D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(R127G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(D157Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(E143D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(E143A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(S123I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(P119S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(Q94R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(R123G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(P83S +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ERMN
(M68V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(A52T +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
ERMN
(T25K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(Q37E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(P31S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ERMN
(A24D +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148, CD302
+29 more
Copy number loss
not specified
GPathogenic
ERMN, GALNT5
Copy number loss
not provided
GUncertain significance
CYTIP, ERMN
+3 more
Copy number loss
not provided
GPathogenic
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
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
ERMN, GALNT5
Copy number gain
See cases
GLikely benign
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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