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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
PTCH1
(R1284W +4 more)
Single nucleotide variant
(missense variant +1 more)
Ovarian cancer
+6 more
GBenign/Likely benign
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Gorlin syndrome
+3 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PTCH1
(P1249L +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
PTCH1-related condition
+3 more
GConflicting classifications of pathogenicity
PTCH1
(T1129S +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GBenign/Likely benign
LOC100507346, PTCH1
(T728M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+5 more
GBenign/Likely benign
LOC100507346, PTCH1
(H520fs +4 more)
Duplication
(frameshift variant +1 more)
not provided
+1 more
GPathogenic
LOC100507346, PTCH1
(R572H +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
PTCH1-related condition
+4 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(T565I +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PTCH1
(R121H +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PTCH1
(G115* +2 more)
Single nucleotide variant
(nonsense +2 more)
not provided
GPathogenic
PTCH1
(A61T)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
LOC130002133, PTCH1
Microsatellite
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
LOC130002133, PTCH1
Microsatellite
(5 prime UTR variant +2 more)
PTCH1-related condition
+4 more
GBenign
LOC130002133, PTCH1
Microsatellite
(5 prime UTR variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GBenign/Likely benign
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