U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 53

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ADAM19, ADAMTS2
+1166 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+294 more
Copy number loss
See cases
GPathogenic
ADAM19, ADRA1B
+279 more
Copy number loss
See cases
GPathogenic
ADAM19, ADAMTS2
+863 more
Copy number gain
See cases
GPathogenic
GARIN3, HAVCR1
+10 more
Copy number gain
See cases
GUncertain significance
HAVCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HAVCR2
(N278I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(P277L)
Single nucleotide variant
(missense variant)
HAVCR2-related disorder
+1 more
GBenign
HAVCR2
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HAVCR2
(R259H)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
HAVCR2
(R259C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
Single nucleotide variant
(intron variant)
not provided
GBenign
HAVCR2
(G208A)
Single nucleotide variant
(missense variant)
HAVCR2-related disorder
GLikely benign
HAVCR2
(I205T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(R184W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
Single nucleotide variant
(splice acceptor variant)
Subcutaneous panniculitis-like T-cell lymphoma
GUncertain significance
HAVCR2
(N172K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(N172S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(I171T)
Single nucleotide variant
(missense variant)
HAVCR2-related disorder
GBenign
HAVCR2
(D170V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
Microsatellite
(intron variant)
HAVCR2-related disorder
GLikely benign
HAVCR2
Microsatellite
(intron variant)
HAVCR2-related disorder
GLikely benign
HAVCR2
Microsatellite
(intron variant)
HAVCR2-related disorder
+1 more
GBenign/Likely benign
HAVCR2
Single nucleotide variant
(intron variant)
not specified
GBenign
HAVCR2
(R140L)
Single nucleotide variant
(missense variant)
Subcutaneous panniculitis-like T-cell lymphoma
+1 more
GBenign
HAVCR2
(R140W)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
Single nucleotide variant
(intron variant)
not specified
GBenign
HAVCR2
(I129V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(I117L)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
HAVCR2
(R111Q)
Single nucleotide variant
(missense variant)
Subcutaneous panniculitis-like T-cell lymphoma
GUncertain significance
HAVCR2
(I107F)
Single nucleotide variant
(missense variant)
HAVCR2-related disorder
GLikely benign
HAVCR2
(T101I)
Single nucleotide variant
(missense variant)
HAVCR2-related disorder
+1 more
GBenign/Likely benign
HAVCR2
(I97M)
Single nucleotide variant
(missense variant)
Subcutaneous panniculitis-like T-cell lymphoma
+1 more
GConflicting classifications of pathogenicity
HAVCR2
(Y82C)
Single nucleotide variant
(missense variant)
HAVCR2-related disorder
+2 more
GConflicting classifications of pathogenicity
HAVCR2
(V49M)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HAVCR2
(A43P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(F39L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(L36M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
HAVCR2
(A28V)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
CYFIP2, FNDC9
+8 more
Duplication
Lymphoproliferative syndrome 1
GUncertain significance
CYFIP2, FNDC9
+8 more
Deletion
Lymphoproliferative syndrome 1
GPathogenic
ADAM19, ADRA1B
+98 more
Copy number gain
not provided
GPathogenic
ADAM19, CYFIP2
+6 more
Copy number gain
not provided
GUncertain significance
ADAM19, ADAMTS2
+222 more
Copy number gain
Hunter-McAlpine craniosynostosis
GPathogenic
GARIN3, MED7
+8 more
Deletion
not provided
GUncertain significance
ADAM19, ADRA1B
+33 more
Copy number loss
not provided
Gnot provided
ADAM19, ADRA1B
+51 more
Copy number loss
not provided
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
ADAM19, ADRA1B
+50 more
Copy number loss
See cases
GPathogenic
Format
Items per page
Sort by
Choose Destination