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Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
HTD2, HTR1F
+482 more
Copy number loss
See cases
GPathogenic
C3orf38, CADM2
+124 more
Copy number loss
See cases
GPathogenic
C3orf38, CADM2
+118 more
Copy number loss
See cases
GPathogenic
C3orf38, CADM2
+89 more
Copy number loss
See cases
GLikely pathogenic
CADM2, CADM2-AS1
+48 more
Copy number gain
See cases
GUncertain significance
CADM2, GBE1
+20 more
Copy number loss
See cases
GPathogenic
C3orf38, CADM2
+54 more
Copy number loss
See cases
GPathogenic
CADM2, SNORA95
Copy number loss
See cases
GUncertain significance
CADM2
Copy number loss
See cases
GBenign
CADM2
Copy number loss
Premature ovarian failure
GBenign
CADM2
Copy number loss
See cases
GBenign
CADM2, CADM2-AS2
(P52L +3 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CADM2
(L108S +4 more)
Single nucleotide variant
(missense variant +2 more)
not specified
GUncertain significance
CADM2
(I122F +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADM2
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
CADM2
(A205V +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(M177V +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(Q212H +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(T118K +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(C160G +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(P221L +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(N241Y +7 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(T331N +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADM2
(T336A +3 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
CADM2
Single nucleotide variant
(intron variant)
not provided
GBenign
CADM2
(P208S +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CADM2
Single nucleotide variant
(synonymous variant)
not provided
GBenign
CADM2
(G261R +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(E348G +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
(I354V +10 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
CADM2
Copy number gain
not provided
GUncertain significance
ARL13B, ARL6
+47 more
Copy number gain
not provided
GLikely pathogenic
GBE1, CADM2
Copy number gain
not provided
GUncertain significance
CADM2
Copy number gain
not provided
GLikely benign
CADM2
Copy number loss
not provided
GLikely benign
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number gain
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number gain
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number gain
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GUncertain significance
CADM2
Copy number loss
not provided
GLikely benign
CADM2
Copy number gain
not provided
GUncertain significance
HHLA2, HIGD1A
+1054 more
Copy number gain
See cases
GPathogenic
A4GNT, AADAC
+1054 more
Copy number gain
See cases
GPathogenic
CADM2
Copy number loss
See cases
GLikely benign
CADM2, GBE1
Copy number gain
See cases
GUncertain significance
CADM2
Copy number loss
Abnormal esophagus morphology
GBenign
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