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Items: 1 to 100 of 138

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAPDH, GAU1
+477 more
Deletion
Tumoral calcinosis, hyperphosphatemic, familial, 1
Gnot provided
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
LOC130008916, LOC130008917
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
LOC130007275, LOC130007276
+97 more
Copy number loss
See cases
GPathogenic
ACSM4, C1R
+18 more
Copy number gain
See cases
GUncertain significance
C1R
Deletion
(3 prime UTR variant)
not provided
GBenign
C1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1R
(I697M +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C1R
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
C1R
Single nucleotide variant
(synonymous variant)
C1R-related disorder
GLikely benign
C1R
(R667H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1R
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
C1R
(H642Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(P544L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(W491fs +1 more)
Duplication
(frameshift variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Single nucleotide variant
(synonymous variant)
not provided
GBenign
C1R
Deletion
(intron variant)
not provided
GBenign
C1R
(R446Q +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(W435R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Indel
(inframe_indel)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(R401H +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GLikely benign
C1R
(C371W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(W364C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C358Y +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GLikely pathogenic
C1R
(C358F +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
Single nucleotide variant
(intron variant)
not provided
GLikely benign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
(I345L +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
C1R
(C338R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1R
(F318C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(E317K +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
Indel
(inframe_indel)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C309W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(C309Y +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
C1R
Single nucleotide variant
(intron variant)
C1R-related disorder
GLikely benign
C1R
(Y302C +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(R301P +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(L300P +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R, C1RL
(G297D +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic/Likely pathogenic
C1R
(D294N +1 more)
Single nucleotide variant
(missense variant)
C1R-related disorder
GUncertain significance
C1R
Single nucleotide variant
(synonymous variant)
C1R-related disorder
GLikely benign
C1R
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
C1R
(S292L +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(D290G +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(L285M +1 more)
Single nucleotide variant
(missense variant)
See cases
GUncertain significance
C1R
(G261R +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
C1R
Deletion
(intron variant)
not specified
GLikely benign
C1R
(K235R +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C1R
(R225Q +1 more)
Single nucleotide variant
(missense variant)
Vascular dementia
GUncertain significance
C1R
(Y222N +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(L218P +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(P216R +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely benign
C1R
(P216A +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(P216T +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(R212Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1R
(E184K +1 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
C1R
(E181G +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GLikely benign
C1R
(H163Y +1 more)
Single nucleotide variant
(missense variant)
C1R-related disorder
GLikely benign
C1R
(K151E +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
(S150R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(R149W +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
C1R
Single nucleotide variant
(splice donor variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(A140V +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(K132M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
C1R
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
C1R
(M112I +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
C1R
(M112V +1 more)
Single nucleotide variant
(missense variant)
C1R-related disorder
GUncertain significance
C1R
(G93C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
C1R
(C103R +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome
GLikely pathogenic
C1R
Single nucleotide variant
(intron variant)
C1R-related disorder
GLikely benign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
Single nucleotide variant
(intron variant)
Ehlers-Danlos syndrome, periodontal type 1
GLikely benign
C1R
(S68F +1 more)
Single nucleotide variant
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GUncertain significance
C1R
(V50D +1 more)
Indel
(missense variant)
Ehlers-Danlos syndrome, periodontal type 1
GPathogenic
C1R
(T30S +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
C1R
Single nucleotide variant
(synonymous variant)
C1R-related disorder
+1 more
GLikely benign
C1R
(P23L +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
C1R
Single nucleotide variant
(synonymous variant)
C1R-related disorder
GLikely benign
C1R
Single nucleotide variant
(intron variant)
C1R-related disorder
GLikely benign
C1R
(W15*)
Single nucleotide variant
(nonsense +1 more)
C1R-related disorder
GBenign
C1R
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
C1R
(E11*)
Single nucleotide variant
(nonsense +1 more)
not provided
GLikely benign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
C1R
Single nucleotide variant
(intron variant)
not provided
GBenign
A2ML1, ACSM4
+35 more
Deletion
Peroxisome biogenesis disorder 2B
+1 more
GPathogenic
A2M, A2ML1
+278 more
Copy number gain
not specified
GPathogenic
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