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Links from MedGen

Items: 1 to 100 of 300

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PROC
Single nucleotide variant
(synonymous variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(L63S)
Single nucleotide variant
(synonymous variant +2 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(E165K +2 more)
Single nucleotide variant
(missense variant +2 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(S105P +5 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(C185F +8 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(V409L +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(V409M +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(C354S +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(synonymous variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(L210P +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(L28P +3 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(L241P +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(T470I +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(T100R +5 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(V415A +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(E135D +3 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
PROC
(G135R +5 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(K70E +5 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(A282T +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(M140R +2 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(W2* +3 more)
Single nucleotide variant
(nonsense +2 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
PROC
Single nucleotide variant
(synonymous variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(Q316H +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
PROC
(G120R +6 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
PROC
(L311P +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
PROC
(E308V +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(G247E +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(K331E +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(A389T +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(H141R +8 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Deletion
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
ERCC3, PROC
+14 more
Deletion
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
PROC
(D303G +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(L284fs +9 more)
Deletion
(frameshift variant)
not provided
+1 more
GPathogenic/Likely pathogenic
PROC
(R245G +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
PROC
(W185* +9 more)
Single nucleotide variant
(nonsense)
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
PROC
(C111G)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(L53P +5 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(R392W +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(G116R +5 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(A333T +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(R334H +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(K214N +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(E380A +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(synonymous variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(R135L)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GBenign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(R24C +4 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
PROC
(E23V +4 more)
Single nucleotide variant
(missense variant +1 more)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(S326G +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(L325I +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(K215fs +9 more)
Duplication
(frameshift variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GPathogenic
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(Y462H +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
Single nucleotide variant
(synonymous variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely benign
PROC
(I224T +9 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PROC
(Y147C +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
PROC
Single nucleotide variant
(intron variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(W395R +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
+1 more
GUncertain significance
PROC
Deletion
(inframe_deletion)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(G150W +9 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
PROC
(R201P +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(F343I +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
PROC
(R139W +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GLikely pathogenic
PROC
(C164R +9 more)
Single nucleotide variant
(missense variant)
Thrombophilia due to protein C deficiency, autosomal dominant
GUncertain significance
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