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Links from MedGen

Items: 42

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FAM20C
(V444G)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GLikely pathogenic
FAM20C
(S159fs)
Deletion
(frameshift variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
Deletion
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
(G365D)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
FAM20C
(A583V)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
+2 more
GBenign/Likely benign
FAM20C
(R551C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FAM20C
(G280R)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GUncertain significance
FAM20C
Single nucleotide variant
(intron variant)
Lethal osteosclerotic bone dysplasia
+1 more
GBenign
FAM20C
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
FAM20C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
FAM20C
Single nucleotide variant
(intron variant)
Lethal osteosclerotic bone dysplasia
+1 more
GBenign
FAM20C
Single nucleotide variant
(intron variant)
Lethal osteosclerotic bone dysplasia
+1 more
GBenign
FAM20C
Single nucleotide variant
(3 prime UTR variant)
Lethal osteosclerotic bone dysplasia
+1 more
GBenign
FAM20C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FAM20C
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign
FAM20C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
FAM20C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
FAM20C
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
FAM20C
(G153D)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
+2 more
GUncertain significance
FAM20C
(N564H)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
FAM20C
(R459C)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
FAM20C
(P244L)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
+1 more
GLikely benign
FAM20C
(C560*)
Single nucleotide variant
(nonsense)
Lethal osteosclerotic bone dysplasia
GUncertain significance
FAM20C
Duplication
(splice donor variant)
FAM20C-related disorder
+3 more
GBenign
FAM20C
(S410T)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign/Likely benign
FAM20C
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FAM20C
(N564D)
Single nucleotide variant
(missense variant)
not specified
+2 more
GBenign
FAM20C
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign
FAM20C
(V561M)
Single nucleotide variant
(missense variant)
not provided
+2 more
GBenign/Likely benign
FAM20C
(P328S)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
(G266R)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM20C
(I246N)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
(D451N)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
FAM20C
Single nucleotide variant
(splice acceptor variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
Single nucleotide variant
(intron variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
Single nucleotide variant
(splice acceptor variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
(G379E)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
Single nucleotide variant
(intron variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
(R549W)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
FAM20C
(L388R)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
FAM20C
(G365R)
Single nucleotide variant
(missense variant)
Lethal osteosclerotic bone dysplasia
GPathogenic
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