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Items: 1 to 100 of 146

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TAS2R9, TEAD4
+1258 more
Copy number gain
See cases
GPathogenic
CLEC12A, CLEC12A-AS1
+1258 more
Copy number gain
See cases
GPathogenic
LOC126861410, LOC126861411
+1258 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+1009 more
Copy number gain
See cases
GPathogenic
LOC130007230, LOC130007231
+1257 more
Copy number gain
See cases
GPathogenic
ACAD10, ACADS
+4836 more
Copy number gain
See cases
GPathogenic
LOC126861494, LOC126861495
+1257 more
Copy number gain
See cases
GPathogenic
CACNA1C-AS2, CACNA1C-AS4
+1242 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+853 more
Copy number gain
See cases
GPathogenic
LOC130007190, LOC130007191
+698 more
Copy number gain
See cases
GPathogenic
A2M, A2M-AS1
+12 more
Copy number gain
See cases
GUncertain significance
A2M, KLRG1
(C1317G +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T1355M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(V1322M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(S1411N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(S1252C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(S1252A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(R1373H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(K1206E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(D1253H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(V1345M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(Q1127K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
not provided
GBenign
A2M, KLRG1
(S1075L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(A1119D +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T1118M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(E1198V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(E1015G +2 more)
Single nucleotide variant
(missense variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(R1013T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(K1012R +2 more)
Single nucleotide variant
(missense variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
A2M, KLRG1
(E1129K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T1017P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T1000N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(intron variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(R881Q +2 more)
Single nucleotide variant
(missense variant)
not provided
GLikely benign
KLRG1, A2M
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
A2M, KLRG1
(I1005T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(K903T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(I1000V +2 more)
Single nucleotide variant
(missense variant)
not provided
GBenign
A2M, KLRG1
(D838N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(C972Y +2 more)
Single nucleotide variant
(missense variant)
ALPHA-2-MACROGLOBULIN POLYMORPHISM
GBenign
A2M, KLRG1
(V798F +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
A2M, KLRG1
(N788D +2 more)
Single nucleotide variant
(missense variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(P837S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(E779Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
A2M, KLRG1
(D897Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(N767K +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(intron variant)
A2M-related disorder
GBenign
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
A2M, KLRG1
(A694V +2 more)
Single nucleotide variant
(missense variant)
A2M-related disorder
GBenign
A2M, KLRG1
(S681P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(R704H +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T697I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(G677E +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(I662M +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(V601L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Duplication
Megacolon
GUncertain significance
A2M, KLRG1
Deletion
(splice acceptor variant +1 more)
ALPHA-2-MACROGLOBULIN POLYMORPHISM
GBenign
A2M, KLRG1
Deletion
(splice acceptor variant)
not specified
+1 more
GBenign
A2M, KLRG1
(R704H +2 more)
Single nucleotide variant
(missense variant)
ALPHA-2-MACROGLOBULIN POLYMORPHISM
GBenign
A2M, KLRG1
(N580S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
A2M, KLRG1
(S518N +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(Y499C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(R645H +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
A2M, KLRG1
(P523R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(S616P +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(A515V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(P491S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(V487A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(R436Q +2 more)
Single nucleotide variant
(missense variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(A483T +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(P429A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(R539Q +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
Single nucleotide variant
(intron variant)
A2M-related disorder
GLikely benign
A2M, KLRG1
(T336S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(L368I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(F458C +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(P304S +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
A2M-related disorder
GBenign
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
A2M-related disorder
GBenign
A2M, KLRG1
(T262I +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T261A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(I259V +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(V305A +2 more)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
A2M, KLRG1
(H252R +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(E401A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(T298A +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
Single nucleotide variant
(synonymous variant)
not provided
GBenign
A2M, KLRG1
(V227I +2 more)
Single nucleotide variant
(missense variant)
A2M-related disorder
GBenign
A2M, KLRG1
(F216L +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
A2M, KLRG1
(R210* +2 more)
Single nucleotide variant
(nonsense)
not specified
GUncertain significance
A2M, KLRG1
(C149Y +2 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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