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Items: 49

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FZD6
(L15I)
Single nucleotide variant
(missense variant +3 more)
Inborn genetic diseases
GUncertain significance
FZD6
(L16V)
Single nucleotide variant
(missense variant +3 more)
FZD6-related disorder
GLikely benign
FZD6
(M1V +1 more)
Single nucleotide variant
(missense variant +3 more)
Nonsyndromic congenital nail disorder 1
GBenign
FZD6
(H60Y +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(I73T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(Q88P +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(R96C +1 more)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
FZD6
(I115S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(R116* +1 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
FZD6
Single nucleotide variant
(intron variant)
FZD6-related disorder
GBenign
FZD6
(D130N +1 more)
Single nucleotide variant
(non-coding transcript variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(D130E +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(P114L +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(D124H +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(G126V +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(H164R +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(N155S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(C177G +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(A212E +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(M215T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(N229S +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(A231T +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(M255I +1 more)
Single nucleotide variant
(missense variant +2 more)
Inborn genetic diseases
GUncertain significance
FZD6
(Y258C +1 more)
Single nucleotide variant
(missense variant +2 more)
Nonsyndromic congenital nail disorder 1
+1 more
GConflicting classifications of pathogenicity
FZD6
Single nucleotide variant
(synonymous variant +1 more)
FZD6-related disorder
GLikely benign
FZD6
(M36R +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(R100Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic congenital nail disorder 1
GBenign
FZD6
(Q102E +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
Single nucleotide variant
(synonymous variant +1 more)
FZD6-related disorder
GBenign
FZD6
(V404L +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(E438K +2 more)
Single nucleotide variant
(missense variant +1 more)
Nonsyndromic congenital nail disorder 1
GPathogenic
FZD6
(V450I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(P155S +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
Single nucleotide variant
(splice acceptor variant)
Nonsyndromic congenital nail disorder 1
GLikely pathogenic
FZD6
(V462F +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
FZD6
(R509* +2 more)
Single nucleotide variant
(nonsense)
Nonsyndromic congenital nail disorder 1
GPathogenic
FZD6
(R511C +2 more)
Single nucleotide variant
(missense variant)
Nonsyndromic congenital nail disorder 1
+1 more
GPathogenic
FZD6
(K227N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(T260I +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(E584* +2 more)
Single nucleotide variant
(nonsense +1 more)
Nonsyndromic congenital nail disorder 1
+1 more
GPathogenic
FZD6
Single nucleotide variant
(synonymous variant +1 more)
FZD6-related disorder
GLikely benign
FZD6
Single nucleotide variant
(synonymous variant +1 more)
FZD6-related disorder
GLikely benign
FZD6
(D329N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GLikely benign
FZD6
(S613N +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(A341T +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(A646V +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(R342W +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
(S679G +2 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
FZD6
Single nucleotide variant
(3 prime UTR variant +1 more)
FZD6-related disorder
GLikely benign
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