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Items: 1 to 100 of 1035

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
AMOTL2, DNAJC13
+1343 more
Copy number gain
See cases
GPathogenic
BPESC1, BTLA
+2645 more
Copy number gain
See cases
GPathogenic
ALDH1L1, ALDH1L1-AS1
+484 more
Copy number gain
See cases
GUncertain significance
ABTB1, ACAD9
+124 more
Copy number loss
See cases
GPathogenic
ABTB1, ACAD11
+248 more
Copy number loss
See cases
GLikely pathogenic
ACAD9, ACAD9-DT
+38 more
Copy number gain
See cases
GUncertain significance
ACAD9, ACAD9-DT
+9 more
Copy number gain
See cases
GUncertain significance
ACAD9-DT, CFAP92
+8 more
Duplication
Charcot-Marie-Tooth disease type 2B
GUncertain significance
ACAD9, ACAD9-DT
Single nucleotide variant
not provided
GLikely benign
ACAD9, ACAD9-DT
Single nucleotide variant
not provided
GLikely benign
ACAD9, ACAD9-DT
Single nucleotide variant
not provided
GBenign
ACAD9
Single nucleotide variant
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
Acyl-CoA dehydrogenase 9 deficiency
GUncertain significance
ACAD9
Microsatellite
(5 prime UTR variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GUncertain significance
ACAD9
Microsatellite
(5 prime UTR variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GBenign
ACAD9
Duplication
(5 prime UTR variant +1 more)
not specified
+2 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +1 more)
ACAD9-related condition
GLikely benign
ACAD9
(M1L)
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GPathogenic
ACAD9
(M1V)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
ACAD9
(M1R)
Single nucleotide variant
(missense variant +2 more)
Not Specified
Gno classification for the single variant
Sno classification for the single variant
Ono classification for the single variant
ACAD9
(M1I)
Single nucleotide variant
(missense variant +2 more)
not provided
GPathogenic
ACAD9
(T11fs)
Duplication
(5 prime UTR variant +2 more)
Acyl-CoA dehydrogenase 9 deficiency
GLikely pathogenic
ACAD9
(S2G)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
(S2I)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GUncertain significance
ACAD9
(S2N)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
(S2R)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(L6fs)
Deletion
(frameshift variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
+1 more
GPathogenic/Likely pathogenic
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
(C4F)
Single nucleotide variant
(missense variant +1 more)
not specified
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(L6P)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(T10I)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
(A14V)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GUncertain significance
ACAD9
(R15C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely pathogenic
ACAD9
(R15P)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GUncertain significance
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(G19C)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GUncertain significance
ACAD9
(G19V)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(T24A)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
(A25T)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(N26S)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
(R27W)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
(T32fs)
Microsatellite
(frameshift variant +1 more)
not provided
GPathogenic
ACAD9
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
GLikely benign
ACAD9
(R31C)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+2 more
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(P34S)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(P35fs)
Deletion
(5 prime UTR variant +2 more)
not provided
GPathogenic
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(V36L)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GUncertain significance
ACAD9
(R37*)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GPathogenic
ACAD9
Single nucleotide variant
(non-coding transcript variant +2 more)
not provided
GLikely benign
ACAD9
(F44I)
Single nucleotide variant
(missense variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GPathogenic
ACAD9
(I48fs)
Deletion
(frameshift variant +1 more)
not provided
GPathogenic
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
Acyl-CoA dehydrogenase 9 deficiency
GLikely pathogenic
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+1 more
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD9
Duplication
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GBenign/Likely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GBenign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(intron variant)
not provided
GLikely benign
ACAD9
Microsatellite
not provided
GPathogenic
ACAD9
Deletion
(splice acceptor variant)
Acyl-CoA dehydrogenase 9 deficiency
+2 more
GLikely pathogenic
ACAD9
Single nucleotide variant
(splice acceptor variant +1 more)
not provided
GLikely pathogenic
ACAD9
(K51I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
ACAD9
(P57L)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
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