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Items: 38

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129931453, LOC129931454
+1585 more
Copy number gain
See cases
GPathogenic
ADAMTS4, ADCY10
+775 more
Copy number gain
See cases
GPathogenic
CADM3
(C17Y)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(N25H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(P33L +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(W68R +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(V46M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(D54N +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
CADM3
(T121I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(T123M +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(V124I +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(G162R +1 more)
Single nucleotide variant
(missense variant)
Malignant tumor of prostate
GUncertain significance
CADM3
Deletion
(splice acceptor variant)
Charcot-Marie-Tooth disease, axonal, type 2FF
GUncertain significance
CADM3
(Y172C +1 more)
Single nucleotide variant
(missense variant)
Charcot-Marie-Tooth disease, axonal, type 2FF
GLikely pathogenic
CADM3
(S174P +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(R143W +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(G190E +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(E209K +1 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
CADM3
(T199A +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3
(I241V +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3
(V208M +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3, CADM3-AS1
(D194E +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3, CADM3-AS1
(H197Q +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3, CADM3-AS1
(R199H +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3, CADM3-AS1
(A365T +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3, CADM3-AS1
(G288C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease, axonal, type 2FF
GUncertain significance
CADM3, CADM3-AS1
(Y308C +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Charcot-Marie-Tooth disease, axonal, type 2FF
GUncertain significance
CADM3, CADM3-AS1
(H319N +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
CADM3, CADM3-AS1
(A330V +2 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Inborn genetic diseases
GUncertain significance
ACKR1, ADAMTS4
+107 more
Copy number loss
not provided
GLikely pathogenic
TAGLN2, TOMM40L
+90 more
Duplication
Autoimmune interstitial lung disease-arthritis syndrome
GUncertain significance
ACKR1, AIM2
+3 more
Copy number gain
not provided
GUncertain significance
CA14, CACNA1E
+956 more
Duplication
Gastrointestinal stromal tumor
+2 more
GUncertain significance
ACKR1, ADAMTS4
+132 more
Copy number loss
not provided
GPathogenic
BCAS2, CNTN2
+2014 more
Copy number gain
See cases
GPathogenic
FAM76A, FAM78B
+2014 more
Copy number gain
See cases
GPathogenic
ACKR1, AIM2
+10 more
Copy number gain
See cases
GUncertain significance
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