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Links from MedGen

Items: 1 to 100 of 5914

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH1
Deletion
Gorlin syndrome
GLikely pathogenic
PTCH1
Deletion
Gorlin syndrome
GPathogenic
PTCH1
Deletion
Gorlin syndrome
GPathogenic
PTCH1
Deletion
Gorlin syndrome
GUncertain significance
PTCH1
Deletion
Gorlin syndrome
GPathogenic
PTCH1
Deletion
Gorlin syndrome
GLikely pathogenic
FANCC, PTCH1
Duplication
Gorlin syndrome
GUncertain significance
PTCH1
Duplication
Gorlin syndrome
GUncertain significance
PTCH1
Deletion
Gorlin syndrome
GPathogenic
PTCH1
Deletion
Gorlin syndrome
GPathogenic
PTCH1
Deletion
Gorlin syndrome
GPathogenic
PTCH1
Deletion
Gorlin syndrome
GPathogenic
FANCC, PTCH1
Deletion
Gorlin syndrome
GPathogenic
SUFU
Duplication
Gorlin syndrome
+1 more
GUncertain significance
SUFU
Duplication
Gorlin syndrome
+1 more
GUncertain significance
SUFU
Deletion
Gorlin syndrome
+1 more
GPathogenic
SUFU
Deletion
Gorlin syndrome
+1 more
GUncertain significance
SUFU
Deletion
Gorlin syndrome
+1 more
GPathogenic
SUFU
Deletion
Gorlin syndrome
+1 more
GPathogenic
PTCH2
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Gorlin syndrome
GLikely benign
PTCH1
(L111V +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(K391Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
LOC100507346, PTCH1
(R558T +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
LOC130002132, PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
LOC130002133, PTCH1
(G5D)
Single nucleotide variant
(missense variant +2 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(synonymous variant +2 more)
Gorlin syndrome
GLikely benign
LOC100507346, PTCH1
(Y488C +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(E841G +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+1 more
GConflicting classifications of pathogenicity
PTCH1
(A906G +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH2
Deletion
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely pathogenic
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Gorlin syndrome
GLikely benign
PTCH1
(A953T +4 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, susceptibility to, 1
+1 more
GConflicting classifications of pathogenicity
PTCH2
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
(E1277K +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(S1325P +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(T160S +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
(M1356I +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH2
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
GLikely benign
PTCH1
(P1124S +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
LOC100507346, PTCH1
(V686L +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(G194S +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(T313N +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(L366P +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH2
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
(G250S +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely benign
PTCH1
Microsatellite
(intron variant)
Gorlin syndrome
GLikely benign
PTCH2
(Y785C)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH2
(P618L)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
PTCH1
(C56R)
Single nucleotide variant
(missense variant +2 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
(K822N +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH2
(R754S)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
PTCH2
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
GLikely benign
PTCH2
(G859E)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
PTCH2
(H612P)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
PTCH2
(L221fs)
Duplication
(frameshift variant)
Gorlin syndrome
GUncertain significance
PTCH1
(L1020M +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(S1157A +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH2
(L692F)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely benign
PTCH1
Deletion
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
(E1288D +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH2
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH2
(A1145T)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
(A1285V +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(synonymous variant +2 more)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
Deletion
(intron variant)
Gorlin syndrome
GBenign
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(synonymous variant +2 more)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH2
(L1101F)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
PTCH2
Single nucleotide variant
(intron variant)
Gorlin syndrome
GBenign
PTCH2
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Gorlin syndrome
GLikely benign
PTCH2
Single nucleotide variant
(intron variant)
Gorlin syndrome
GLikely benign
PTCH1
(Q1235R +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely benign
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
GLikely benign
PTCH2
(S439L)
Single nucleotide variant
(missense variant)
Gorlin syndrome
GUncertain significance
PTCH2
(Q793H)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
PTCH1
(C539F +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
GUncertain significance
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Gorlin syndrome
GBenign
SUFU
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+1 more
GLikely benign
SUFU
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+1 more
GLikely benign
SUFU
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+1 more
GLikely benign
SUFU
Single nucleotide variant
(intron variant)
Gorlin syndrome
+1 more
GLikely benign
SUFU
Single nucleotide variant
(synonymous variant)
Gorlin syndrome
+1 more
GLikely benign
SUFU
(F107C)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
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