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Items: 1 to 100 of 1173

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129937446, LOC129937447
+1343 more
Copy number gain
See cases
GPathogenic
LOC129937268, LOC129937269
+2645 more
Copy number gain
See cases
GPathogenic
LOC126806816, LOC126806817
+484 more
Copy number gain
See cases
GUncertain significance
A4GNT, ACAD11
+282 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+345 more
Copy number loss
See cases
GPathogenic
A4GNT, ACAD11
+212 more
Copy number loss
See cases
GPathogenic
LOC129937649, LOC129937650
+301 more
Copy number loss
See cases
GPathogenic
AMOTL2, ANAPC13
+102 more
Copy number loss
See cases
GPathogenic
LOC129937630, LOC129937631
+320 more
Copy number loss
See cases
GPathogenic
A4GNT, AMOTL2
+167 more
Copy number loss
See cases
GPathogenic
EPHB1, LOC112903838
+20 more
Copy number gain
See cases
GUncertain significance
A4GNT, ARMC8
+221 more
Copy number loss
See cases
GPathogenic
LOC129937632, LOC129937633
+11 more
Copy number loss
Intellectual disability, autosomal dominant 47
GLikely pathogenic
IL20RB, IL20RB-AS1
+26 more
Copy number loss
Intellectual disability, autosomal dominant 47
GLikely pathogenic
LOC112903838, LOC123038190
+7 more
Copy number gain
See cases
GUncertain significance
PCCB
Deletion
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
not provided
GBenign
PCCB
Single nucleotide variant
not provided
GLikely benign
PCCB
Single nucleotide variant
not provided
GLikely benign
PCCB
Single nucleotide variant
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
Propionic acidemia
+1 more
GBenign/Likely benign
PCCB
Single nucleotide variant
(5 prime UTR variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(5 prime UTR variant)
Propionic acidemia
GUncertain significance
PCCB
(M1fs)
Deletion
(frameshift variant +1 more)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(5 prime UTR variant)
not specified
GLikely benign
PCCB
Deletion
Propionic acidemia
GPathogenic
PCCB
Duplication
(inframe_insertion +1 more)
Propionic acidemia
GUncertain significance
PCCB
(M1R)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
GPathogenic
PCCB
(M1K)
Indel
(missense variant +1 more)
Propionic acidemia
GPathogenic
PCCB
(M1T)
Single nucleotide variant
(missense variant +1 more)
Propionic acidemia
GPathogenic
PCCB
(M1K)
Single nucleotide variant
(missense variant +1 more)
not provided
GPathogenic
PCCB
(M1I)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GPathogenic
PCCB
(A2V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A2E)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Deletion
(inframe_deletion)
Propionic acidemia
GUncertain significance
PCCB
(A3V)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PCCB
(A4fs)
Deletion
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L5*)
Single nucleotide variant
(nonsense)
Propionic acidemia
GPathogenic/Likely pathogenic
PCCB
(R6G)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R6W)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R6Q)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
GUncertain significance
PCCB
(R6L)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+1 more
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(V7L)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(A8V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
not specified
+1 more
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(G11R)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A12T)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A12E)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R13K)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L14I)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(L14F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GConflicting classifications of pathogenicity
PCCB
(V16F)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(L17M)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PCCB
(A18fs)
Deletion
(frameshift variant)
Propionic acidemia
GLikely pathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(A18V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A18G)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(G20C)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(G20S)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(G20fs)
Deletion
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(R22C)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(A23T)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(A23V)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
(V25I)
Single nucleotide variant
(missense variant)
Propionic acidemia
GUncertain significance
PCCB
(R26fs)
Duplication
(frameshift variant)
Propionic acidemia
GPathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
PCCB
Indel
(splice donor variant)
Propionic acidemia
GLikely pathogenic
PCCB
Single nucleotide variant
(synonymous variant)
Propionic acidemia
GLikely benign
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