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Items: 47

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACMSD, AMER3
+391 more
Copy number loss
See cases
GPathogenic
ACMSD, AMER3
+336 more
Copy number loss
See cases
GPathogenic
ACMSD
(I3T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACMSD
(I5T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACMSD
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
ACMSD
(F21Y)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACMSD
(W26R)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACMSD
(K38T)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACMSD
(L39F)
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GUncertain significance
ACMSD
(L32F +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(Q36H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(R73H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(G140R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(D93E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(L94V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
ACMSD
(A96V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(L99P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
(A104V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD
Single nucleotide variant
(intron variant)
ACMSD-related disorder
GLikely benign
ACMSD, CCNT2-AS1
(M122V +1 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
(M208V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
(A223T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
Single nucleotide variant
(intron variant)
See cases
GUncertain significance
ACMSD, CCNT2-AS1
(H238R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
(G181R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
ACMSD, CCNT2-AS1
(S183R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
(D192E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
Single nucleotide variant
(synonymous variant)
ACMSD-related disorder
GLikely benign
ACMSD, CCNT2-AS1
(D212H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
(K217R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
Duplication
(intron variant)
not provided
GLikely benign
ACMSD, CCNT2-AS1
(G231E +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
(T257A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ACMSD, CCNT2-AS1
Single nucleotide variant
(splice donor variant)
not provided
GUncertain significance
ACMSD, ACVR2A
+26 more
Copy number gain
not specified
GLikely pathogenic
ABCA12, ABCB11
+1216 more
Copy number gain
Mosaic trisomy 2
GPathogenic
EPB41L5, ERCC3
+120 more
Copy number gain
2q13q22.3 microduplication syndrome
GPathogenic
GPR39, IL1F10
+122 more
Copy number gain
not provided
GPathogenic
ACMSD, AMER3
+64 more
Copy number loss
not provided
GPathogenic
ACMSD, CCNT2
+14 more
Copy number loss
not provided
GPathogenic
ACMSD, MGAT5
+1 more
Copy number gain
not provided
GUncertain significance
ACMSD, C2orf27A
+486 more
Deletion
not provided
GLikely pathogenic
CCDC74B, CCDC93
+218 more
Copy number loss
Poly (ADP-Ribose) polymerase inhibitor response
Gdrug response
RGPD4, RGPD5
+1214 more
Copy number gain
See cases
GPathogenic
IL1F10, IL1R1
+1214 more
Copy number gain
See cases
GPathogenic
ACMSD, AMER3
+74 more
Copy number loss
See cases
GPathogenic
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