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Items: 67

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACVR1, ACVR1C
+238 more
Copy number gain
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
ACVR1, ACVR1C
+26 more
Copy number loss
See cases
GUncertain significance
CCDC148, CCDC148-AS1
+15 more
Copy number loss
See cases
GUncertain significance
CCDC148, CCDC148-AS1
(T418K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148, CCDC148-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC148, CCDC148-AS1
(E541G +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148, CCDC148-AS1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CCDC148, CCDC148-AS1
(E376K +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDC148, CCDC148-AS1
(A368T +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC148, CCDC148-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
CCDC148, CCDC148-AS1
(R455T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148, CCDC148-AS1
(A302S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(E254K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDC148
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CCDC148
Deletion
Primary amenorrhea
GLikely benign
CCDC148
(C198F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(C198S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(I320V +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
CCDC148
(C308R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(Y307F +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
CCDC148
(R298S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(K150E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(Q144R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(M288I +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(D245V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(Q98R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(F232L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(P220L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(P60L +1 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CCDC148
(K203N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(I49N +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CCDC148
(V159L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC148
(H151N)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
CCDC148
(Q131R)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CCDC148
(L123V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC148
(Q75P)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
CCDC148
(T64I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC148
(M54K)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CCDC148
(R33H)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
CCDC148
(R33C)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC148
(P26S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC148
(I22S)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
BAZ2B, BAZ2B-AS1
+197 more
Copy number loss
See cases
GPathogenic
CCDC148
(A4T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
CCDC148
(M1K)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
CCDC148, CD302
+29 more
Copy number loss
not specified
GPathogenic
BAZ2B, CCDC148
+4 more
Copy number gain
not provided
GUncertain significance
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
BAZ2B, CCDC148
+22 more
Copy number loss
not specified
GPathogenic
CCDC148, UPP2
Copy number loss
not specified
GUncertain significance
ACVR1, ACVR1C
+9 more
Copy number loss
not provided
GPathogenic
CCDC148
Copy number loss
not provided
GUncertain significance
ACVR1, ACVR1C
+17 more
Copy number gain
not provided
Gnot provided
ACVR1C, GALNT5
+8 more
Copy number loss
not provided
GLikely pathogenic
CCDC148
Copy number loss
not provided
GUncertain significance
RBMS1, SLC4A10
+16 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
ABCB11, ACVR1
+129 more
Copy number gain
See cases
GPathogenic
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