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Items: 1 to 100 of 585

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC130006930, LOC130006931
+1199 more
Copy number gain
See cases
GPathogenic
ABCG4, ACRV1
+774 more
Copy number gain
See cases
GPathogenic
ABCG4, APOA1
+355 more
Copy number gain
See cases
GPathogenic
MPZL3, MSANTD2
+769 more
Copy number gain
See cases
GPathogenic
LOC129390375, LOC129390376
+764 more
Copy number gain
See cases
GPathogenic
POU2F3, PRDM10
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+764 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+763 more
Copy number gain
See cases
GPathogenic
LOC130006854, LOC130006855
+499 more
Copy number gain
See cases
GPathogenic
ABCG4, ACAD8
+635 more
Copy number gain
See cases
GPathogenic
ABCG4, C2CD2L
+40 more
Copy number gain
See cases
GLikely benign
LOC130007028, LOC130007029
+608 more
Duplication
Schizophrenia
GLikely pathogenic
HMBS
Deletion
not provided
GUncertain significance
HMBS
Single nucleotide variant
not provided
GUncertain significance
HMBS
Deletion
not provided
GUncertain significance
HMBS
Single nucleotide variant
not provided
GUncertain significance
HMBS
Deletion
not provided
GUncertain significance
HMBS
Single nucleotide variant
not provided
GUncertain significance
HMBS
Deletion
not provided
GUncertain significance
HMBS
Single nucleotide variant
not provided
GBenign
HMBS
Single nucleotide variant
not provided
GUncertain significance
HMBS
Single nucleotide variant
not provided
GBenign
HMBS
Single nucleotide variant
not provided
GUncertain significance
HMBS
Single nucleotide variant
not provided
GUncertain significance
HMBS
Single nucleotide variant
not specified
+1 more
GBenign
HMBS
Deletion
Porphyria, acute intermittent, nonerythroid variant
GPathogenic
HMBS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
GBenign
HMBS
Single nucleotide variant
(5 prime UTR variant +1 more)
Acute intermittent porphyria
GBenign
HMBS
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
HMBS
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
GUncertain significance
HMBS
(S2P)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HMBS
(G5S)
Single nucleotide variant
(missense variant +1 more)
Acute intermittent porphyria
GUncertain significance
HMBS
(A8T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
HMBS
(A9T)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HMBS
(A9E)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HMBS
(T10M)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HMBS
(A11T)
Single nucleotide variant
(missense variant +1 more)
not provided
GLikely benign
HMBS
(A11V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+1 more
GLikely benign
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign
HMBS
Deletion
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(intron variant)
not provided
GBenign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMBS
(E12A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
HMBS
(E13G)
Single nucleotide variant
(missense variant +1 more)
not specified
GUncertain significance
HMBS
(N14fs)
Deletion
(frameshift variant +1 more)
Porphyria, acute intermittent, nonerythroid variant
GPathogenic
HMBS
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
HMBS
(R19fs +1 more)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
HMBS
(R2T +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
(I21F +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
(R5C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
HMBS
(R5H +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HMBS
Single nucleotide variant
(synonymous variant)
not provided
GBenign
HMBS
(V23M +1 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
HMBS
(G24fs +1 more)
Deletion
(frameshift variant)
not provided
GPathogenic
HMBS
(G24V +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
(G24D +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HMBS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMBS
(R26C +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
HMBS
(R26P +1 more)
Single nucleotide variant
(missense variant)
not provided
GLikely pathogenic
HMBS
(R9L +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HMBS
(R26H +1 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
HMBS
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
HMBS
(Q12R +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
Deletion
(splice donor variant)
not provided
GLikely pathogenic
HMBS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
HMBS
Single nucleotide variant
(splice donor variant)
not provided
GPathogenic
HMBS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GBenign
HMBS
Deletion
(intron variant)
Acute intermittent porphyria
GUncertain significance
HMBS
Single nucleotide variant
(intron variant)
not specified
+2 more
GBenign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GLikely benign
HMBS
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
HMBS
Single nucleotide variant
(splice acceptor variant)
not provided
GPathogenic
HMBS
(A31T +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GPathogenic
HMBS
(R32C +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
(R32L +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
(R15H +1 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
HMBS
(Q34K +1 more)
Single nucleotide variant
(missense variant)
Acute intermittent porphyria
GPathogenic
HMBS
(T18M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GLikely pathogenic
HMBS
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
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