U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL10A1, NT5DC1
(P433fs)
Duplication
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(W651*)
Insertion
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(E503fs)
Microsatellite
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(G365R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(Q649*)
Single nucleotide variant
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(K616*)
Duplication
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(P491L)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(I289V)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(W651L)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(G241R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL10A1, NT5DC1
(W611*)
Single nucleotide variant
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(D634fs)
Deletion
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(V546E)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(C591Y)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(C591F)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(G618fs)
Deletion
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(W651fs)
Microsatellite
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GPathogenic
COL10A1, NT5DC1
(L652R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(Y623fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
NT5DC1, COL10A1
(I593fs)
Duplication
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(Y663*)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic
COL10A1, NT5DC1
Microsatellite
(nonsense +1 more)
not provided
GPathogenic
NT5DC1, COL10A1
(Y615D)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(W651*)
Single nucleotide variant
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
(Q653fs)
Duplication
(frameshift variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(I569V)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(R258*)
Single nucleotide variant
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
+2 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(M27R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(T450N)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
NT5DC1, COL10A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(P108R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(E119D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COL10A1, NT5DC1
(G587R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
NT5DC1, COL10A1
(G209S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
NT5DC1, COL10A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(I53R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
Deletion
(inframe_deletion +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
NT5DC1, COL10A1
(C591G)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
(M680I)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
(P382S)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
(G350D)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(P423S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(intron variant)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(L15V)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
(R24Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
COL10A1, NT5DC1
(S50R)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GBenign/Likely benign
COL10A1, NT5DC1
Single nucleotide variant
(intron variant)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
COL10A1, NT5DC1
(R71Q)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(G86R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
COL10A1, NT5DC1
(D128N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GBenign
COL10A1, NT5DC1
(P144S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GLikely benign
COL10A1, NT5DC1
(V154M)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL10A1, NT5DC1
(R198H)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
(R258Q)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GBenign/Likely benign
COL10A1, NT5DC1
(A328T)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
NT5DC1, COL10A1
(P358L)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GUncertain significance
COL10A1, NT5DC1
(G383R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
COL10A1, NT5DC1
(P394R)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
COL10A1, NT5DC1
(G419S)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
(G443D)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign
COL10A1, NT5DC1
(P474S)
Single nucleotide variant
(missense variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+1 more
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
(M680V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign/Likely benign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
NT5DC1, COL10A1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(3 prime UTR variant +1 more)
Metaphyseal chondrodysplasia, Schmid type
GBenign
Format
Items per page
Sort by
Choose Destination