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Links from MedGen

Items: 1 to 100 of 244

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PTCH1
(G1025fs +4 more)
Deletion
(frameshift variant +1 more)
Holoprosencephaly 7
GLikely pathogenic
DISP1
(R299* +1 more)
Single nucleotide variant
(nonsense)
Holoprosencephaly 7
GUncertain significance
PTCH1
(E53Q)
Single nucleotide variant
(5 prime UTR variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
Single nucleotide variant
(non-coding transcript variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Holoprosencephaly 7
GUncertain significance
PTCH1
(A1321T +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+3 more
GUncertain significance
PTCH1
(L157I +3 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 7
+3 more
GConflicting classifications of pathogenicity
PTCH1
(P25fs)
Deletion
(5 prime UTR variant +1 more)
PTCH1-related disorder
+3 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
(S432Y +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GUncertain significance
PTCH1
(Q1094E +4 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, susceptibility to, 1
+2 more
GUncertain significance
PTCH1
(P1242L +4 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 7
+4 more
GUncertain significance
LOC100507346, PTCH1
(L683V +4 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 7
GUncertain significance
LOC100507346, PTCH1
(F639V +4 more)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GBenign
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
not provided
+2 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GBenign/Likely benign
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GBenign
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(intron variant)
Gorlin syndrome
+1 more
GConflicting classifications of pathogenicity
PTCH1
(P1375L +4 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 7
+2 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GBenign/Likely benign
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GBenign
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Gorlin syndrome
+1 more
GBenign/Likely benign
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
PTCH1
Single nucleotide variant
(3 prime UTR variant +1 more)
Holoprosencephaly 7
+1 more
GUncertain significance
LOC130002133, PTCH1
Single nucleotide variant
(5 prime UTR variant +2 more)
Gorlin syndrome
+1 more
GUncertain significance
PTCH1
(S851I +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+2 more
GUncertain significance
LOC100507346, PTCH1
(W664C +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Holoprosencephaly 7
+3 more
GUncertain significance
PTCH1
(R420Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PTCH1
(A497V +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+3 more
GUncertain significance
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 7
+2 more
GBenign/Likely benign
PTCH1
(G1244D +4 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+5 more
GConflicting classifications of pathogenicity
PTCH1
(P1411L +4 more)
Single nucleotide variant
(missense variant +1 more)
Basal cell carcinoma, susceptibility to, 1
+3 more
GUncertain significance
LOC100507346, PTCH1
(V621M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PTCH1
(G2E +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PTCH1
(S892R +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+3 more
GUncertain significance
PTCH1
(L251F +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+3 more
GUncertain significance
PTCH1
(R1284Q +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+4 more
GConflicting classifications of pathogenicity
PTCH1
(A1380T +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(splice acceptor variant)
Gorlin syndrome
+2 more
GPathogenic/Likely pathogenic
PTCH1
(M215T +3 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+2 more
GUncertain significance
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GBenign/Likely benign
LOC130002133, PTCH1
Single nucleotide variant
(synonymous variant +2 more)
Holoprosencephaly 7
+2 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Holoprosencephaly 7
+2 more
GConflicting classifications of pathogenicity
PTCH1
(F516V +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+3 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(E538K +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PTCH1
(F83L +2 more)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(I805V +4 more)
Single nucleotide variant
(missense variant)
Gorlin syndrome
+4 more
GUncertain significance
PTCH1
(R1303L +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
PTCH1
(D235N +3 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(M833V +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(V763F +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC130002133, PTCH1
(G25A)
Single nucleotide variant
(missense variant +2 more)
Holoprosencephaly 7
+2 more
GConflicting classifications of pathogenicity
PTCH1
(R1126H +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+3 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
not provided
+3 more
GBenign/Likely benign
PTCH1
(R138C +2 more)
Single nucleotide variant
(missense variant +2 more)
Ovarian cancer
+5 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Gorlin syndrome
+2 more
GConflicting classifications of pathogenicity
PTCH1
(R19K +2 more)
Single nucleotide variant
(missense variant +2 more)
Gorlin syndrome
+2 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(M737T +4 more)
Single nucleotide variant
(missense variant)
Basal cell carcinoma, susceptibility to, 1
+3 more
GUncertain significance
PTCH1
(R879fs +4 more)
Indel
(frameshift variant +1 more)
Holoprosencephaly 7
GLikely pathogenic
PTCH1
Single nucleotide variant
(synonymous variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PTCH1
(S1280L +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+4 more
GBenign/Likely benign
PTCH1
(A61T)
Single nucleotide variant
(missense variant +2 more)
Gorlin syndrome
+4 more
GConflicting classifications of pathogenicity
PTCH1
(Q1179R +4 more)
Single nucleotide variant
(missense variant +1 more)
Gorlin syndrome
+4 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(P726S +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Holoprosencephaly 7
+3 more
GConflicting classifications of pathogenicity
PTCH1
(R1342C +4 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+4 more
GConflicting classifications of pathogenicity
LOC130002133, PTCH1
(A4G)
Single nucleotide variant
(missense variant +2 more)
Holoprosencephaly 7
+2 more
GUncertain significance
LOC100507346, PTCH1
(R704* +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+4 more
GPathogenic
PTCH1
(D1146N +4 more)
Single nucleotide variant
(missense variant +1 more)
Holoprosencephaly 7
+3 more
GConflicting classifications of pathogenicity
PTCH1
(A385T +3 more)
Single nucleotide variant
(missense variant +2 more)
Gorlin syndrome
+3 more
GConflicting classifications of pathogenicity
PTCH1
(E380K +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+3 more
GConflicting classifications of pathogenicity
LOC100507346, PTCH1
(T712M +4 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Holoprosencephaly 7
+3 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
PTCH1
Single nucleotide variant
(intron variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC130002133, PTCH1
Single nucleotide variant
(5 prime UTR variant +2 more)
Holoprosencephaly 7
+1 more
GUncertain significance
LOC130002133, PTCH1
(G16S)
Single nucleotide variant
(missense variant +2 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
PTCH1
(S284N +3 more)
Single nucleotide variant
(missense variant +1 more)
Hereditary cancer-predisposing syndrome
+2 more
GConflicting classifications of pathogenicity
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