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Items: 1 to 100 of 905

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129929105, LOC129929106
+2149 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
LOC112577504, LOC112577505
+316 more
Copy number loss
See cases
GPathogenic
AADACL3, AADACL4
+209 more
Copy number gain
See cases
GLikely pathogenic
AADACL3, AADACL4
+288 more
Copy number loss
See cases
GPathogenic
C1orf167-AS1, AADACL3
+104 more
Copy number gain
See cases
GUncertain significance
AGTRAP, C1orf167
+28 more
Copy number gain
See cases
GUncertain significance
AGTRAP, C1orf167
+62 more
Copy number gain
See cases
GUncertain significance
C1orf167, MTHFR
Duplication
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GBenign
C1orf167, MTHFR
Single nucleotide variant
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
C1orf167, MTHFR
Duplication
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
C1orf167, MTHFR
Deletion
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
C1orf167, MTHFR
Deletion
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GLikely benign
C1orf167, MTHFR
Deletion
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
C1orf167, MTHFR
(S1275N)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
C1orf167, MTHFR
(L1303del)
Deletion
(inframe_deletion +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
C1orf167, MTHFR
Single nucleotide variant
(synonymous variant +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
C1orf167, MTHFR
Single nucleotide variant
(3 prime UTR variant +1 more)
Neural tube defects, folate-sensitive
GUncertain significance
MTHFR
Single nucleotide variant
(3 prime UTR variant)
Neural tube defects, folate-sensitive
GUncertain significance
MTHFR
Deletion
(3 prime UTR variant)
Neural tube defects, folate-sensitive
GUncertain significance
MTHFR
Insertion
(3 prime UTR variant)
Neural tube defects, folate-sensitive
GUncertain significance
MTHFR
Single nucleotide variant
(3 prime UTR variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GBenign
MTHFR
Duplication
(3 prime UTR variant)
Neural tube defects, folate-sensitive
GUncertain significance
MTHFR
Deletion
(3 prime UTR variant)
Neural tube defects, folate-sensitive
GUncertain significance
MTHFR
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MTHFR
Single nucleotide variant
(3 prime UTR variant)
not provided
GLikely benign
MTHFR
Single nucleotide variant
(3 prime UTR variant)
not provided
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(stop lost)
Neural tube defects, folate-sensitive
+1 more
GConflicting classifications of pathogenicity
MTHFR
Single nucleotide variant
(stop lost)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GPathogenic
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
not provided
+6 more
GBenign/Likely benign
MTHFR
(T653M +1 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GBenign/Likely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(R651K +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(A650V +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
(N689K +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(N649D +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GBenign
MTHFR
(R645K +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
(N644K +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
+1 more
GBenign/Likely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(C631Y +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(D670G +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
(L628P +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GPathogenic
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(N620K +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
(N660S +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(L618fs +1 more)
Deletion
(frameshift variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GPathogenic
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(D655N +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Inborn genetic diseases
+1 more
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(Y611C +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(Q610fs +2 more)
Deletion
(frameshift variant)
Neural tube defects, folate-sensitive
GLikely pathogenic
MTHFR
(I648N +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTHFR
(R606H +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
(R647C +2 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(P645L +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
MTHFR
(S603C +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GPathogenic
MTHFR
(E602del +2 more)
Microsatellite
(inframe_deletion +1 more)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(E602S +2 more)
Inversion
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
Single nucleotide variant
(synonymous variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely benign
MTHFR
(E640D +2 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GLikely benign
MTHFR
Indel
(nonsense)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GPathogenic
MTHFR
(Y599C +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
MTHFR
(L598R +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GLikely pathogenic
MTHFR
(L598P +1 more)
Single nucleotide variant
(missense variant)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
GUncertain significance
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