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Items: 1 to 100 of 130

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
BDH1, C3orf33
+1449 more
Copy number gain
See cases
GPathogenic
LOC129938007, LOC129938008
+1317 more
Copy number gain
See cases
GPathogenic
LOC129938312, LOC129938313
+1246 more
Copy number gain
See cases
GPathogenic
LOC129937897, LOC129937898
+1244 more
Copy number gain
See cases
GPathogenic
LOC129938023, LOC129938024
+1200 more
Copy number gain
See cases
GPathogenic
LOC129938326, LOC129938327
+1064 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+627 more
Copy number gain
See cases
GLikely pathogenic
LOC129938320, LOC129938321
+1041 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+867 more
Copy number gain
See cases
GPathogenic
ZMAT3, ZNF639
+866 more
Copy number gain
See cases
GPathogenic
ABCC5, ABCC5-AS1
+399 more
Copy number loss
See cases
GPathogenic
ADIPOQ, ADIPOQ-AS1
+131 more
Copy number gain
See cases
GPathogenic
LOC110121069, LOC110121110
+557 more
Copy number loss
See cases
GPathogenic
HRG
(P21L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(C24*)
Single nucleotide variant
(nonsense)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
Single nucleotide variant
(synonymous variant)
HRG-related disorder
GLikely benign
HRG
(A34fs)
Deletion
(frameshift variant)
not provided
GConflicting classifications of pathogenicity
HRG
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
HRG
(R42L)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HRG
(R42Q)
Single nucleotide variant
(missense variant)
HRG-related disorder
+3 more
GConflicting classifications of pathogenicity
HRG
(A56V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
Single nucleotide variant
(intron variant)
not provided
GBenign
HRG, LOC126806897
(Y68H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG, HRG-AS1
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HRG, LOC126806897
(S76L)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
LOC126806897, HRG
(S79W)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HRG, LOC126806897
Deletion
Normal pregnancy
Gnot provided
HRG, HRG-AS1
+1 more
(P91S)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
+1 more
GPathogenic/Likely pathogenic
HRG, LOC126806897
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HRG, LOC126806897
(G103R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG, HRG-AS1
+1 more
(G103E)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GPathogenic
HRG, LOC126806897
(F124fs)
Deletion
(frameshift variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG, HRG-AS1
Single nucleotide variant
(intron variant)
not specified
GBenign
HRG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HRG
(A134T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(K139E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(D140Y)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(D140V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(F147I)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HRG, HRG-AS1
(A158T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HRG
(I180T)
Single nucleotide variant
(missense variant)
HRG-related disorder
GBenign
HRG
(E181Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(V183A)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HRG
(A184T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(G191E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(V200L)
Single nucleotide variant
(missense variant)
HRG-related disorder
+1 more
GBenign
HRG
(P204S)
Single nucleotide variant
(missense variant)
HRG-related disorder
+1 more
GBenign
HRG
(A220E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(F223L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(P234L)
Single nucleotide variant
(missense variant)
not provided
GBenign
HRG
Microsatellite
(nonsense)
not provided
GUncertain significance
HRG
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HRG
(D245H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(D245N)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HRG
(D245E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(P246T)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(H249Y)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(N253S)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRG
(P257L)
Single nucleotide variant
(missense variant)
HRG-related disorder
GBenign
HRG
(R270H)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRG
Single nucleotide variant
(synonymous variant)
HRG-related disorder
GLikely benign
HRG
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HRG, HRG-AS1
(H288del)
Microsatellite
(inframe_deletion)
not provided
GBenign
HRG
(H288L)
Single nucleotide variant
(missense variant)
HRG-related disorder
GLikely benign
HRG
(H290fs)
Deletion
(frameshift variant)
not provided
GUncertain significance
HRG
(E294*)
Single nucleotide variant
(nonsense)
not provided
GLikely benign
HRG
(E294A)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HRG
(S307L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRG
(P316S)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GUncertain significance
HRG
(P318S)
Single nucleotide variant
(missense variant)
HRG-related disorder
+1 more
GBenign
HRG
(P321L)
Single nucleotide variant
(missense variant)
not provided
GBenign
HRG
(N335S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(A337T)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRG
(H340R)
Single nucleotide variant
(missense variant)
HRG-related disorder
GBenign
HRG
(P351T)
Single nucleotide variant
(missense variant)
HRG-related disorder
+1 more
GBenign
HRG
Single nucleotide variant
(synonymous variant)
HRG-related disorder
GLikely benign
HRG
Deletion
(inframe_deletion)
not provided
GUncertain significance
HRG
(H395L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
Microsatellite
(inframe_deletion)
not provided
GLikely benign
HRG
(H400Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(Q412*)
Single nucleotide variant
(nonsense)
not provided
GBenign
HRG
(P419L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(G425D)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRG
(G430A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(P434L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(G436R)
Single nucleotide variant
(missense variant)
HRG-related disorder
+1 more
GBenign/Likely benign
HRG
(R441Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(G442D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(R448C)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GBenign
HRG
(H451R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
Single nucleotide variant
(synonymous variant)
HRG-related disorder
GLikely benign
HRG
(R460Q)
Single nucleotide variant
(missense variant)
Abnormal bleeding
+1 more
GLikely benign
HRG
(R465G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(P483Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(K486N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HRG
(N493I)
Single nucleotide variant
(missense variant)
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
GBenign
HRG
Single nucleotide variant
(synonymous variant)
HRG-related disorder
GLikely benign
HRG
(V500F)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HRG
(T520I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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