U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 1 to 100 of 199

  • The following term was not found in ClinVar: acuminatissima.
  • Showing results for Pteris acuminatissima. Your search for Pteris acuminatissima retrieved no results.
Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MTR
(A410P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
MTR
(H188P +1 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
ABLIM3, ACSL6
+1672 more
Copy number loss
See cases
GPathogenic
LOC129994992, LOC129994993
+1157 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACSL6
+1218 more
Copy number gain
See cases
GPathogenic
ACSL6, ACSL6-AS1
+263 more
Copy number loss
See cases
GPathogenic
AFF4, AFF4-DT
+147 more
Copy number loss
See cases
GPathogenic
BRD8, C5orf15
+230 more
Copy number loss
See cases
GPathogenic
CATSPER3, EPIST
+14 more
Copy number gain
See cases
GUncertain significance
PCBD2
(A26T)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCBD2
(T32A)
Single nucleotide variant
(missense variant)
not specified
GLikely benign
PCBD2
(A37V)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCBD2
(R58I)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCBD2
(H68Q)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCBD2
(S78C)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
PCBD2
(A126P)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
SLC25A48, TGFBI
+21 more
Duplication
not provided
GUncertain significance
FSTL4, GDF9
+63 more
Copy number loss
not provided
GPathogenic
C5orf24, CAMLG
+10 more
Copy number gain
not provided
GUncertain significance
C5orf15, C5orf24
+22 more
Copy number loss
not specified
GUncertain significance
AFF4, BRD8
+53 more
Copy number loss
not specified
GPathogenic
C5orf24, C5orf34
+600 more
Deletion
Neurodevelopmental disorder
GUncertain significance
ACSL6, ADAMTS19
+68 more
Copy number loss
not provided
GLikely pathogenic
HARS1, HARS2
+385 more
Deletion
Hereditary cancer-predisposing syndrome
+1 more
GPathogenic
DHFR, DHX29
+738 more
Copy number loss
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ABLIM3, ACOT12
+870 more
Copy number gain
See cases
GPathogenic
ARL10, ARL14EPL
+511 more
Copy number gain
not provided
GLikely benign
HRH2, HSD17B4
+520 more
Copy number gain
See cases
GPathogenic
A1CF, ADAMTS14
+902 more
Copy number gain
See cases
GPathogenic
LOC129390180, LOC129390181
+1008 more
Copy number gain
See cases
GPathogenic
LOC129390190, LOC129390191
+610 more
Copy number loss
See cases
GPathogenic
HERC4, HK1
+514 more
Copy number loss
See cases
GPathogenic
LOC130004125, LOC130004126
+580 more
Copy number gain
See cases
GPathogenic
ADAMTS14, LINC02622
+26 more
Copy number gain
See cases
GUncertain significance
PCBD1
Microsatellite
(3 prime UTR variant +1 more)
BH4-Deficient Hyperphenylalaninemia
GUncertain significance
PCBD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
+1 more
GBenign/Likely benign
PCBD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+1 more
GBenign
PCBD1
Single nucleotide variant
(3 prime UTR variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(stop lost +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GConflicting classifications of pathogenicity
PCBD1
(M54K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GConflicting classifications of pathogenicity
PCBD1
(Q98* +1 more)
Single nucleotide variant
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PCBD1
(E97K +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely pathogenic
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(I96V +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
(S45I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
(N91fs +1 more)
Deletion
(frameshift variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GPathogenic
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(R88Q +1 more)
Single nucleotide variant
(missense variant +1 more)
Inborn genetic diseases
+1 more
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(R88W +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
(E87* +1 more)
Single nucleotide variant
(nonsense +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GPathogenic/Likely pathogenic
PCBD1
(L36fs +1 more)
Indel
(frameshift variant +1 more)
not provided
GLikely pathogenic
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(C82R +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely pathogenic
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(T79I +1 more)
Single nucleotide variant
(missense variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Duplication
(intron variant)
not provided
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(N71del +1 more)
Microsatellite
(inframe_deletion)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
Gnot provided
PCBD1
(V69M +1 more)
Single nucleotide variant
(missense variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(synonymous variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(N19* +1 more)
Duplication
(nonsense)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GPathogenic
PCBD1
Single nucleotide variant
(synonymous variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(L60P +1 more)
Single nucleotide variant
(missense variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(synonymous variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PCBD1
Single nucleotide variant
(intron variant)
not provided
GBenign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GUncertain significance
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(intron variant)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
PCBD1
(H39fs)
Microsatellite
(frameshift variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely pathogenic
PCBD1
(K36fs)
Deletion
(frameshift variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GPathogenic
PCBD1
(Q37fs)
Deletion
(frameshift variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GPathogenic
PCBD1
Single nucleotide variant
(synonymous variant +1 more)
Pterin-4 alpha-carbinolamine dehydratase 1 deficiency
GLikely benign
Format
Items per page
Sort by
Choose Destination