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Items: 1 to 100 of 204

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
A2ML1-AS2, A3GALT2
+2151 more
Copy number gain
Trisomy 12p
GPathogenic
ACAP3, ACOT7
+806 more
Copy number loss
See cases
GPathogenic
LINC02783, LINC03126
+804 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+500 more
Copy number loss
See cases
GPathogenic
LOC129929435, LOC129929436
+505 more
Copy number loss
See cases
GPathogenic
PLOD1, PRAMEF1
+730 more
Copy number loss
See cases
GPathogenic
LOC129929327, LOC129929328
+557 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+563 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+387 more
Copy number gain
See cases
GPathogenic
AADACL3, AADACL4
+386 more
Copy number loss
See cases
GPathogenic
AGTRAP, ANGPTL7
+309 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+462 more
Copy number loss
See cases
GPathogenic
AADACL4, AGTRAP
+280 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+370 more
Copy number loss
See cases
GPathogenic
LOC110120623, LOC110120648
+361 more
Duplication
not specified
GLikely pathogenic
AADACL3, AADACL4
+304 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+337 more
Copy number loss
See cases
GPathogenic
ANGPTL7, C1orf127
+43 more
Copy number gain
See cases
GUncertain significance
LOC112577504, LOC112577505
+316 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+209 more
Copy number gain
See cases
GLikely pathogenic
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic lateral sclerosis type 10
+1 more
GUncertain significance
MASP2, TARDBP
Insertion
(3 prime UTR variant)
Frontotemporal dementia
+2 more
GBenign
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Frontotemporal dementia
+3 more
GBenign/Likely benign
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
+3 more
GBenign
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Amyotrophic Lateral Sclerosis, Dominant
+2 more
GLikely benign
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(3 prime UTR variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(D685N)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MASP2, TARDBP
(K671Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(M658V)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(V653A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MASP2, TARDBP
(V649A)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(D641E)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(G635R)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(C629S)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(S628G)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(E622K)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
MASP2-related disorder
GLikely benign
MASP2, TARDBP
(C618S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
MASP2-related disorder
GLikely benign
MASP2, TARDBP
(A600T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(T599I)
Single nucleotide variant
(missense variant)
MASP2-related disorder
GLikely benign
MASP2, TARDBP
(D594H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
MASP2, TARDBP
(Q577H)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GBenign/Likely benign
MASP2, TARDBP
(T576I)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(W573C)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GUncertain significance
MASP2, TARDBP
(G568R)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
MASP2-related disorder
GLikely benign
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
MASP2-related disorder
GLikely benign
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to MASP-2 deficiency
+3 more
GBenign/Likely benign
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(G528S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(H525R)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(S506fs)
Duplication
(frameshift variant)
not provided
GLikely pathogenic
MASP2, TARDBP
(L505P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign
MASP2, TARDBP
(A492T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(H490Q)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GUncertain significance
MASP2, TARDBP
(H490Y)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(V485I)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MASP2, TARDBP
(A471T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(G464D)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(G464A)
Single nucleotide variant
(missense variant)
MASP2-related disorder
GBenign
MASP2, TARDBP
(R444H)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(R439H)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GBenign/Likely benign
MASP2, TARDBP
(R439C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(S437P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(W418fs)
Indel
(frameshift variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2, TARDBP
(T419M)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2, TARDBP
(D415N)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GConflicting classifications of pathogenicity
MASP2, TARDBP
(V411M)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(V405M)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(F400C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2
(E397D)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(C396Y)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(T381I)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(I380L)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2
(V377A)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GBenign
MASP2
(R376Q)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
MASP2
(R376*)
Single nucleotide variant
(nonsense)
not provided
GLikely pathogenic
MASP2
(D371Y)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+2 more
GBenign
MASP2
Deletion
(intron variant)
MASP2-related disorder
GUncertain significance
MASP2
(S362N)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2
Single nucleotide variant
(synonymous variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(A360T)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(D355V)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
+1 more
GLikely benign
MASP2
(L335P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MASP2
(S323R)
Single nucleotide variant
(missense variant)
Immunodeficiency due to MASP-2 deficiency
GUncertain significance
MASP2
(V311I)
Single nucleotide variant
(missense variant)
MASP2-related disorder
GUncertain significance
MASP2
(P299S)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
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