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Links from Gene

Items: 1 to 100 of 421

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
COL10A1, NT5DC1
(P249R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(V19M)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(A68T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(K616*)
Duplication
(nonsense +1 more)
Metaphyseal chondrodysplasia, Schmid type
GLikely pathogenic
COL10A1, NT5DC1
(G291fs)
Deletion
(frameshift variant +1 more)
COL10A1-related disorder
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(G180A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(E261K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G151R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(E23A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G109A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G404R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(A678P)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
NT5DC1, COL10A1
(P463S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P199S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(M680K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(intron variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(T61I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(G57E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(V181A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(D643H)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(H500Y)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P417T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P418S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G285R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NT5DC1, COL10A1
(P149L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P173S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(L96F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
NT5DC1, COL10A1
(V603L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(T164I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GBenign
COL10A1, NT5DC1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
COL10A1, NT5DC1
(S541R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(S664fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
COL10A1, NT5DC1
(Y623*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely pathogenic
COL10A1, NT5DC1
(G595A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(F589S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P491R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G18R)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely pathogenic
COL10A1, NT5DC1
(P249S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P492S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(E666G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(E93K)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(K188E)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P167fs)
Deletion
(frameshift variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(R138P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(Y615*)
Duplication
(nonsense +1 more)
not provided
GPathogenic
COL10A1, NT5DC1
(A640P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P457L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(V16L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(Y601N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
Duplication
(inframe_insertion +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(W651fs)
Deletion
(frameshift variant +1 more)
not provided
GLikely pathogenic
COL10A1, NT5DC1
(L676P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(V621I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G341R)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P167S)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
COL10A1, NT5DC1
(L652F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P620L)
Single nucleotide variant
(missense variant +1 more)
COL10A1-related disorder
GUncertain significance
COL10A1, NT5DC1
(P266R)
Single nucleotide variant
(missense variant +1 more)
COL10A1-related disorder
GUncertain significance
COL10A1, NT5DC1
(F554L)
Single nucleotide variant
(missense variant +1 more)
COL10A1-related disorder
GLikely pathogenic
COL10A1, NT5DC1
(A328G)
Single nucleotide variant
(missense variant +1 more)
COL10A1-related disorder
GUncertain significance
COL10A1, NT5DC1
(Y625C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(G428E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(H581Y)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(P278L)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(L575F)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(G212E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(G305C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
COL10A1, NT5DC1
(G368R)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL10A1, NT5DC1
(T40I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(A427V)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL10A1, NT5DC1
(P207S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(G256E)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(G270R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(A478T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
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
(S659L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(I263V)
Single nucleotide variant
(missense variant +1 more)
not provided
GBenign
COL10A1, NT5DC1
(S552T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
COL10A1, NT5DC1
(P568L)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
COL10A1, NT5DC1
(A22T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(A375S)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(K387I)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(S384L)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
COL10A1, NT5DC1
(I454T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(G377D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
COL10A1, NT5DC1
(P79S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
COL10A1, NT5DC1
(G75D)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
Display optionsSort by RelevanceDownload
Format
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