U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 33

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CARMIL2
(Q549fs +1 more)
Deletion
(frameshift variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GLikely pathogenic
CARMIL2
(R525W +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
(Q510* +1 more)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency due to CARMIL2 deficiency
GLikely pathogenic
CARMIL2
(V480M +1 more)
Single nucleotide variant
(missense variant)
CARMIL2-related condition
+1 more
GUncertain significance
CARMIL2
(G1114del +1 more)
Microsatellite
(inframe_deletion)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
(A108G)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
(F158C)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
(L309P)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
CARMIL2
(D400E +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
+1 more
GConflicting classifications of pathogenicity
CARMIL2
(D482E +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
+1 more
GConflicting classifications of pathogenicity
CARMIL2
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
CARMIL2
(R646Q +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
CARMIL2
Single nucleotide variant
(splice donor variant)
not provided
+1 more
GLikely pathogenic
CARMIL2
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
+1 more
GLikely pathogenic
CARMIL2
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GBenign
ACD, CARMIL2
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
+1 more
GBenign/Likely benign
CARMIL2
(R174*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GPathogenic/Likely pathogenic
CARMIL2
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
CARMIL2
Single nucleotide variant
(intron variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
+1 more
GBenign/Likely benign
CARMIL2
(A76T)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
+1 more
GUncertain significance
CARMIL2
(E249K)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
(R1240K +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GUncertain significance
CARMIL2
Single nucleotide variant
(splice donor variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GLikely pathogenic
CARMIL2
(K559fs +1 more)
Deletion
(frameshift variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GPathogenic
CARMIL2
(R50T)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GLikely pathogenic
CARMIL2
(L810fs +1 more)
Deletion
(frameshift variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GPathogenic
CARMIL2
(L639H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
CARMIL2
(Q853* +1 more)
Single nucleotide variant
(nonsense)
Severe combined immunodeficiency due to CARMIL2 deficiency
GPathogenic
CARMIL2
(L525Q +1 more)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GPathogenic
CARMIL2
(L372R)
Single nucleotide variant
(missense variant)
Severe combined immunodeficiency due to CARMIL2 deficiency
GLikely pathogenic
CARMIL2
Single nucleotide variant
(splice donor variant)
Combined immunodeficiency
+1 more
GPathogenic
CARMIL2
(A164fs)
Duplication
(frameshift variant)
Combined immunodeficiency
+1 more
GPathogenic
Format
Items per page
Sort by
Choose Destination