U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 257

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130004500, LOC130004501
+821 more
Copy number gain
See cases
GPathogenic
EDRF1-AS1, EDRF1-DT
+1036 more
Copy number gain
See cases
GPathogenic
GSTO1, GSTO2
+1097 more
Copy number gain
See cases
GPathogenic
LOC124416905, LOC124416906
+318 more
Copy number loss
See cases
GPathogenic
ABLIM1, ACSL5
+308 more
Copy number loss
See cases
GPathogenic
LOC126861107, LOC128598885
+802 more
Copy number gain
See cases
GPathogenic
ABLIM1, ACSL5
+134 more
Copy number loss
See cases
GLikely pathogenic
ABLIM1, ABRAXAS2
+679 more
Copy number gain
See cases
GPathogenic
LOC130004765, LOC130004766
+109 more
Copy number loss
See cases
GPathogenic
LOC126861050, LOC126861051
+248 more
Copy number gain
See cases
GLikely pathogenic
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Deletion
(intron variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
Single nucleotide variant
(intron variant)
not provided
+1 more
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
Factor VII Marburg I Variant Thrombophilia
+1 more
GBenign/Likely benign
HABP2
Single nucleotide variant
(intron variant +1 more)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GLikely benign
HABP2
Single nucleotide variant
(5 prime UTR variant +1 more)
Factor VII Marburg I Variant Thrombophilia
+1 more
GLikely benign
HABP2
(M5I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HABP2
(L16V)
Single nucleotide variant
(missense variant +1 more)
Factor VII Marburg I Variant Thrombophilia
GLikely benign
HABP2
(K19N)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HABP2
(T20I)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant +1 more)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
(M1R +1 more)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HABP2
(S28C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HABP2
(L3V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(S32I +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
+1 more
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
(E47K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(N24Y +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HABP2
(E53G +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HABP2
Single nucleotide variant
(synonymous variant)
Factor VII Marburg I Variant Thrombophilia
+2 more
GBenign
HABP2
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GConflicting classifications of pathogenicity
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Duplication
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HABP2
(G59S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(D61N +1 more)
Single nucleotide variant
(missense variant)
HABP2-related condition
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
(V90I +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
+1 more
GLikely benign
HABP2
(G66A +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2, LOC129390229
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2, LOC129390229
Single nucleotide variant
(intron variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2, LOC129390229
(V85A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2, LOC129390229
(Q86R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(T88M +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
(R96W +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
+3 more
GBenign/Likely benign
HABP2
(R96Q +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(R122L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(Q103H +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
Factor VII Marburg I Variant Thrombophilia
+1 more
GConflicting classifications of pathogenicity
HABP2
(Y107S +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
(R109C +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GBenign/Likely benign
HABP2
(T143A +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(intron variant)
Factor VII Marburg I Variant Thrombophilia
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
Single nucleotide variant
(intron variant)
not provided
GBenign
HABP2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HABP2
(P156S +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
(N157K +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(P132L +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(A163T +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(A137V +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
(S166F +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
GLikely benign
HABP2
(R167W +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HABP2
Single nucleotide variant
(synonymous variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
(D154N +1 more)
Single nucleotide variant
(missense variant)
Factor VII Marburg I Variant Thrombophilia
GUncertain significance
HABP2
(G158R +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
Format
Items per page
Sort by
Choose Destination