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Items: 57

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
ABCC9, AEBP2
+133 more
Copy number loss
See cases
GLikely pathogenic
ABCC9, AEBP2
+179 more
Copy number loss
See cases
GPathogenic
CMAS, LOC112163548
(S3L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS, LOC112163548
(R18L)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS, LOC112163548
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CMAS, LOC112163548
(H44Y)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS, LOC112163548
(G54D)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
CMAS
(I127T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(I161V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(R175C)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(I225V)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(R241Q)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(S245I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(I248T)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(L262S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(A328P)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(M343I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
Duplication
(intron variant)
not provided
GBenign
CMAS
(A389V)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
CMAS
(D392N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
(K399R)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CMAS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign/Likely benign
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
FGD4, FGF23
+278 more
Duplication
not provided
GPathogenic
DENND5B, DERA
+278 more
Copy number gain
Pallister-Killian syndrome
GPathogenic
C12orf60, YBX3
+85 more
Copy number loss
not provided
GPathogenic
ABCC9, AEBP2
+35 more
Copy number gain
not specified
GPathogenic
C3AR1, CACNA1C
+278 more
Copy number gain
not specified
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
A2ML1, ABCC9
+235 more
Copy number gain
not specified
GPathogenic
GYS2, KCNJ8
+11 more
Copy number loss
not provided
GPathogenic
ART4, DYRK4
+278 more
Copy number gain
not provided
GPathogenic
SMCO2, SOX5
+48 more
Copy number loss
not provided
GPathogenic
CLEC1B, CLEC2A
+278 more
Copy number gain
not provided
GPathogenic
ABCC9, C2CD5
+16 more
Copy number loss
not provided
GUncertain significance
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not provided
GPathogenic
A2M, A2ML1
+256 more
Copy number gain
See cases
GPathogenic
KCNA6, KCNJ8
+273 more
Copy number gain
See cases
GLikely pathogenic
SLC15A5, SLC16A7
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+1006 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
CMAS
Copy number gain
See cases
GBenign
ABCC9, AEBP2
+35 more
Copy number gain
See cases
GPathogenic
GALNT8, H2AJ
+1007 more
Copy number gain
See cases
GPathogenic
ACSM4, CCND2
+278 more
Copy number gain
See cases
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
See cases
GPathogenic
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