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Links from MedGen

Items: 1 to 100 of 106

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHYH
(Y133* +1 more)
Single nucleotide variant
(nonsense)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(E115* +1 more)
Single nucleotide variant
(nonsense)
Phytanic acid storage disease
GLikely pathogenic
PHYH
Deletion
(nonsense +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PHYH
(Q176fs +3 more)
Deletion
(frameshift variant +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
Single nucleotide variant
(intron variant +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(W193* +3 more)
Single nucleotide variant
(nonsense +1 more)
Phytanic acid storage disease
GLikely pathogenic
LOC130003374, PHYH
(G18fs)
Duplication
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(D75fs)
Deletion
(5 prime UTR variant +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(N199fs +4 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(Q42*)
Single nucleotide variant
(5 prime UTR variant +2 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(L130fs +1 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(L174fs +3 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic/Likely pathogenic
PHYH
(A153fs +1 more)
Deletion
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
PHYH
(V129fs +4 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(P163fs +1 more)
Deletion
(frameshift variant +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(K114* +3 more)
Single nucleotide variant
(nonsense +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(K168* +3 more)
Single nucleotide variant
(nonsense +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(V129fs +4 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(R184fs +3 more)
Indel
(frameshift variant +1 more)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(T171fs +4 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GLikely pathogenic
LOC130003374, PHYH
(S21fs)
Duplication
(frameshift variant)
not provided
+1 more
GPathogenic
PHYH
(T171M +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
PHYH
Duplication
(splice acceptor variant)
not provided
+1 more
GPathogenic
PHYH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign
PEX7
Single nucleotide variant
(intron variant)
Peroxisome biogenesis disorder 9B
+3 more
GUncertain significance
PHYH
Single nucleotide variant
(synonymous variant)
not provided
+1 more
GLikely benign
PEX7
Single nucleotide variant
(synonymous variant)
Phytanic acid storage disease
+3 more
GConflicting classifications of pathogenicity
LOC130003374, PHYH
(A7T)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
PHYH
(E26fs +1 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
+1 more
GPathogenic
PHYH
(R82W)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+1 more
GUncertain significance
PEX7
(V185A)
Single nucleotide variant
(missense variant)
Rhizomelic chondrodysplasia punctata type 1
+2 more
GUncertain significance
PHYH
(G139W +4 more)
Single nucleotide variant
(missense variant)
Inborn genetic diseases
+2 more
GUncertain significance
PHYH
(H147Y +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PHYH
Single nucleotide variant
(intron variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(synonymous variant)
Phytanic acid storage disease
+1 more
GConflicting classifications of pathogenicity
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
(H28R)
Single nucleotide variant
(5 prime UTR variant +2 more)
not provided
+1 more
GUncertain significance
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
(D177G +3 more)
Single nucleotide variant
(missense variant +1 more)
Phytanic acid storage disease
+2 more
GConflicting classifications of pathogenicity
PHYH
Single nucleotide variant
(intron variant +1 more)
Retinal dystrophy
+2 more
GPathogenic/Likely pathogenic
PHYH
Single nucleotide variant
(splice acceptor variant)
not provided
+1 more
GPathogenic
PHYH
(G235R +4 more)
Single nucleotide variant
(missense variant)
Phytanic acid storage disease
+1 more
GUncertain significance
PHYH
(R82G)
Single nucleotide variant
(5 prime UTR variant +1 more)
Phytanic acid storage disease
+2 more
GConflicting classifications of pathogenicity
PHYH
Single nucleotide variant
(splice donor variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(V208del +3 more)
Deletion
(inframe_deletion +1 more)
not provided
+1 more
GUncertain significance
LOC130003374, PHYH
Duplication
(inframe_insertion +1 more)
Phytanic acid storage disease
GUncertain significance
PEX7
Single nucleotide variant
(splice acceptor variant)
Phytanic acid storage disease
+2 more
GUncertain significance
PEX7
(R232Q)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX7
(P29L)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+4 more
GUncertain significance
PHYH
(I118M +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PEX7
(Q93*)
Single nucleotide variant
(nonsense)
Connective tissue disorder
+3 more
GPathogenic/Likely pathogenic
PEX7
Deletion
(3 prime UTR variant)
Rhizomelic chondrodysplasia punctata
+1 more
GUncertain significance
PEX7
Insertion
(3 prime UTR variant)
not provided
+2 more
GBenign
PEX7
Single nucleotide variant
Rhizomelic chondrodysplasia punctata
+1 more
GUncertain significance
PEX7
Single nucleotide variant
Phytanic acid storage disease
+1 more
GUncertain significance
PEX7
Single nucleotide variant
Phytanic acid storage disease
+1 more
GUncertain significance
PHYH
Single nucleotide variant
Phytanic acid storage disease
GUncertain significance
LOC130003374, PHYH
Single nucleotide variant
(5 prime UTR variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(intron variant)
PHYH-related condition
+2 more
GConflicting classifications of pathogenicity
PHYH
Single nucleotide variant
(5 prime UTR variant +2 more)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(5 prime UTR variant +2 more)
PHYH-related condition
+2 more
GBenign/Likely benign
PHYH
(K59T)
Single nucleotide variant
(5 prime UTR variant +1 more)
Phytanic acid storage disease
GUncertain significance
PHYH
(R82Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
Phytanic acid storage disease
+1 more
GUncertain significance
PHYH
Single nucleotide variant
(synonymous variant)
Phytanic acid storage disease
+1 more
GBenign/Likely benign
PHYH
Single nucleotide variant
(synonymous variant)
Phytanic acid storage disease
+1 more
GConflicting classifications of pathogenicity
PHYH
(T119M +1 more)
Single nucleotide variant
(missense variant)
PHYH-related condition
+2 more
GConflicting classifications of pathogenicity
PHYH
Deletion
(intron variant)
Phytanic acid storage disease
+1 more
GBenign/Likely benign
PHYH
(A192T +3 more)
Single nucleotide variant
(missense variant +1 more)
Phytanic acid storage disease
+2 more
GUncertain significance
PHYH
(T194M +3 more)
Single nucleotide variant
(missense variant +1 more)
Phytanic acid storage disease
+1 more
GUncertain significance
PHYH
(R201G +3 more)
Single nucleotide variant
(intron variant +1 more)
not provided
+1 more
GConflicting classifications of pathogenicity
PHYH
(N202K +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PHYH
(G215S +3 more)
Single nucleotide variant
(missense variant +1 more)
Phytanic acid storage disease
+1 more
GBenign
PHYH
Single nucleotide variant
(intron variant)
not provided
+1 more
GBenign/Likely benign
PHYH
Single nucleotide variant
(intron variant)
Phytanic acid storage disease
GUncertain significance
PHYH
Single nucleotide variant
(synonymous variant)
PHYH-related condition
+2 more
GConflicting classifications of pathogenicity
PHYH
Single nucleotide variant
(intron variant)
not provided
+1 more
GUncertain significance
PHYH
(R327Q +4 more)
Single nucleotide variant
(missense variant)
PHYH-related condition
+2 more
GLikely benign
PHYH
(N337D +4 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GLikely benign
PHYH
Single nucleotide variant
(3 prime UTR variant)
Phytanic acid storage disease
GLikely benign
PHYH
Single nucleotide variant
(3 prime UTR variant)
not provided
+1 more
GBenign
PHYH
Deletion
(3 prime UTR variant)
Phytanic acid storage disease
+1 more
GBenign
PEX7
(Q126P)
Single nucleotide variant
(missense variant)
not specified
+5 more
GBenign/Likely benign
PHYH
(V158fs +4 more)
Deletion
(frameshift variant)
Phytanic acid storage disease
GLikely pathogenic
PHYH
(R245Q +4 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
PHYH
Single nucleotide variant
(intron variant)
PHYH-related condition
+3 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GPathogenic/Likely pathogenic
PHYH
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GBenign/Likely benign
PHYH
Single nucleotide variant
(5 prime UTR variant +1 more)
not specified
+2 more
GBenign
PHYH
Single nucleotide variant
(synonymous variant +1 more)
not specified
+2 more
GBenign
PEX7
Single nucleotide variant
(5 prime UTR variant)
Phytanic acid storage disease
Gnot provided
PEX7
(Y40*)
Single nucleotide variant
(nonsense)
Rhizomelic chondrodysplasia punctata type 1
+5 more
GPathogenic
PEX7
Single nucleotide variant
(intron variant)
not provided
+3 more
GConflicting classifications of pathogenicity
PEX7
Single nucleotide variant
(splice donor variant)
PEX7-Related Disorders
+4 more
GPathogenic
PEX7
(A218V)
Single nucleotide variant
(missense variant)
Peroxisome biogenesis disorder 9B
+3 more
GPathogenic/Likely pathogenic
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