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Items: 1 to 100 of 1826

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CCDC146, CCDC201
+4735 more
Copy number loss
See cases
GPathogenic
ABCB1, ABCB4
+227 more
Copy number loss
See cases
GPathogenic
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(3 prime UTR variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(V1072E +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
(K1071fs +2 more)
Duplication
(frameshift variant)
not specified
GUncertain significance
GATAD1, PEX1
(Q1278K +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(R1275Q +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
+1 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(R1275* +2 more)
Single nucleotide variant
(nonsense)
not specified
+2 more
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(S1270R +2 more)
Single nucleotide variant
(missense variant)
PEX1-related condition
+3 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
(S1062fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
GATAD1, PEX1
(S1062R +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
(N1060fs +2 more)
Duplication
(frameshift variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(P1206R +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
(P1055Q +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(Q1204K +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
(S1051T +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(E1258K +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
PEX1, GATAD1
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Duplication
(intron variant)
Zellweger spectrum disorders
GBenign
GATAD1, PEX1
Microsatellite
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Microsatellite
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Deletion
(intron variant)
not provided
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
not provided
GBenign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
not provided
GLikely benign
GATAD1, PEX1
Deletion
Zellweger spectrum disorders
+1 more
GPathogenic
GATAD1, PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Duplication
(splice donor variant)
Zellweger spectrum disorders
+1 more
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(splice donor variant)
Zellweger spectrum disorders
GPathogenic
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
+1 more
GLikely benign
GATAD1, PEX1
(N1044K +2 more)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 1B
+3 more
GConflicting classifications of pathogenicity
PEX1, GATAD1
(W1250* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GPathogenic
PEX1, GATAD1
(S1246fs +2 more)
Duplication
(frameshift variant)
Peroxisome biogenesis disorder 1A (Zellweger)
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(T1033I +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GBenign/Likely benign
GATAD1, PEX1
(H1032fs +2 more)
Duplication
(frameshift variant)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
PEX1, GATAD1
(A1237V +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
(A1237E +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GLikely pathogenic
GATAD1, PEX1
(H1025Y +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(Q1174fs +2 more)
Microsatellite
(frameshift variant)
Zellweger spectrum disorders
+5 more
GPathogenic/Likely pathogenic
PEX1, GATAD1
(S1024* +2 more)
Single nucleotide variant
(nonsense)
Heimler syndrome 1
GLikely pathogenic
GATAD1, PEX1
(Q1231R +2 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GATAD1, PEX1
(Q1023* +2 more)
Single nucleotide variant
(nonsense)
Zellweger spectrum disorders
+1 more
GPathogenic/Likely pathogenic
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
(R1018S +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
PEX1-related condition
GLikely benign
GATAD1, PEX1
(P1014L +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
(M1009R +2 more)
Single nucleotide variant
(missense variant)
Zellweger spectrum disorders
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
PEX1, GATAD1
(E1215D +2 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Peroxisome biogenesis disorder 1A (Zellweger)
+2 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(synonymous variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(splice acceptor variant)
Zellweger spectrum disorders
+1 more
GLikely pathogenic
GATAD1, PEX1
Deletion
(splice acceptor variant)
Zellweger spectrum disorders
GLikely pathogenic
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Duplication
(intron variant)
Zellweger spectrum disorders
+1 more
GBenign/Likely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Deletion
(intron variant)
Zellweger spectrum disorders
GBenign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
+1 more
GConflicting classifications of pathogenicity
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
GATAD1, PEX1
Single nucleotide variant
(intron variant)
Zellweger spectrum disorders
GLikely benign
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