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Links from MedGen

Items: 35

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
C2CD3
(C1867fs)
Duplication
(frameshift variant)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3
(M1fs)
Deletion
(frameshift variant +1 more)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3, LOC126861262
(D1928E)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(Y907C)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3
(R577H)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3
(H350D)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
Single nucleotide variant
(splice acceptor variant)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3
(R1061T)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
+1 more
GUncertain significance
C2CD3
(S990fs)
Indel
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
C2CD3
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(V1323F)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(R1248C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
C2CD3
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 14
+1 more
GUncertain significance
C2CD3
Single nucleotide variant
(splice donor variant)
Orofaciodigital syndrome type 14
GLikely pathogenic
C2CD3
(C2001fs)
Deletion
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C2CD3
Single nucleotide variant
(intron variant +1 more)
Orofaciodigital syndrome type 14
+1 more
GUncertain significance
C2CD3
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
C2CD3
Single nucleotide variant
(synonymous variant)
Orofaciodigital syndrome type 14
+1 more
GBenign
C2CD3
(R621*)
Single nucleotide variant
(nonsense)
Orofaciodigital syndrome type 14
+1 more
GPathogenic/Likely pathogenic
C2CD3
(V332fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
C2CD3
(A1217G)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
+1 more
GConflicting classifications of pathogenicity
C2CD3
(P902T)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C2CD3
(M740I)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(R62P)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(R1977*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GUncertain significance
C2CD3
(D1834Y)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(W65C)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GUncertain significance
C2CD3
(R1553Q)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C2CD3
Single nucleotide variant
(intron variant)
Orofaciodigital syndrome type 14
GPathogenic
C2CD3
Single nucleotide variant
(splice donor variant)
not provided
GLikely pathogenic
C2CD3
(P235L)
Single nucleotide variant
(missense variant)
not specified
+4 more
GBenign/Likely benign
C2CD3
(R2323H)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
+1 more
GConflicting classifications of pathogenicity
C2CD3
Single nucleotide variant
(splice acceptor variant)
Orofaciodigital syndrome type 14
+1 more
GPathogenic/Likely pathogenic
C2CD3
(C1029G)
Single nucleotide variant
(missense variant)
Orofaciodigital syndrome type 14
GPathogenic
C2CD3
(R62*)
Single nucleotide variant
(nonsense)
Familial aplasia of the vermis
GPathogenic
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