"GeneDx"[submitter] AND "PTCH1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 536

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59118	GRCh38/hg38 9q22.31-22.33(chr9:91596533-97018746)x1	AOPEP, ASPN +268 more	Copy number loss	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 59120	GRCh38/hg38 9q22.32(chr9:95046229-96111163)x1	AOPEP, ERCC6L2 +52 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 367638	NM_000264.5(PTCH1):c.*1709G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign
Select item 367640	NM_000264.5(PTCH1):c.*1702C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 367642	NM_000264.5(PTCH1):c.*1616A>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign
Select item 367643	NM_000264.5(PTCH1):c.*1545T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 367644	NM_000264.5(PTCH1):c.*1535T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 367646	NM_000264.5(PTCH1):c.*1373G>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign
Select item 367656	NM_000264.5(PTCH1):c.*664dup	PTCH1	Duplication (3 prime UTR variant +1 more)	Holoprosencephaly sequence +2 more	GBenign
Select item 367659	NM_000264.5(PTCH1):c.*237G>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign
Select item 367660	NM_000264.5(PTCH1):c.*231T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 1194498	NM_000264.5(PTCH1):c.*85G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2580522	NM_000264.5(PTCH1):c.*2-1G>A	PTCH1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1205169	NM_000264.5(PTCH1):c.*1+245G>A	PTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677075	NM_000264.5(PTCH1):c.*1+229G>A	PTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1294301	NM_000264.5(PTCH1):c.*1+37A>G	PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 423077	NM_000264.5(PTCH1):c.*1+20dup	PTCH1	Duplication (intron variant)	not specified	GLikely benign
Select item 3340364	NM_000264.5(PTCH1):c.*1+1G>A	PTCH1	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 219456	NM_000264.5(PTCH1):c.4328G>T (p.Gly1443Val)	PTCH1 (G1377V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41667	NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	PTCH1 (R1376Q +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 41666	NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)	PTCH1 (R1376W +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1475644	NM_000264.5(PTCH1):c.4319G>A (p.Arg1440Lys)	PTCH1 (R1289K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 220426	NM_000264.5(PTCH1):c.4313A>G (p.Glu1438Gly)	PTCH1 (E1372G +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 453892	NM_000264.5(PTCH1):c.4298A>T (p.Gln1433Leu)	PTCH1 (Q1433L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 2576932	NM_000264.5(PTCH1):c.4294C>T (p.Leu1432=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2076846	NM_000264.5(PTCH1):c.4276A>G (p.Lys1426Glu)	PTCH1 (K1425E +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 453890	NM_000264.5(PTCH1):c.4264A>G (p.Arg1422Gly)	PTCH1 (R1356G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 219882	NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile)	PTCH1 (V1352I +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1707739	NM_000264.5(PTCH1):c.4240_4241delinsCC (p.Val1414Pro)	PTCH1 (V1263P +4 more)	Indel (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 216389	NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)	PTCH1 (V1348M +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GLikely benign
Select item 1040356	NM_000264.5(PTCH1):c.4232A>G (p.Asp1411Gly)	PTCH1 (D1411G +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 453887	NM_000264.5(PTCH1):c.4230_4231insACTGAG (p.Glu1410_Asp1411insThrGlu)	PTCH1	Insertion (inframe_insertion +1 more)	not provided +2 more	GUncertain significance
Select item 837249	NM_000264.5(PTCH1):c.4218C>A (p.His1406Gln)	PTCH1 (H1354Q +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 188135	NM_000264.5(PTCH1):c.4199G>A (p.Gly1400Asp)	PTCH1 (G1334D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1477504	NM_000264.5(PTCH1):c.4187del (p.Gly1396fs)	PTCH1 (G1245fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GUncertain significance
Select item 944984	NM_000264.5(PTCH1):c.4187G>A (p.Gly1396Glu)	PTCH1 (G1245E +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 579292	NM_000264.5(PTCH1):c.4180C>T (p.Arg1394Ter)	PTCH1 (R1394* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +3 more	GUncertain significance
Select item 381468	NM_000264.5(PTCH1):c.4179C>A (p.Pro1393=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 381828	NM_000264.5(PTCH1):c.4172G>A (p.Arg1391Gln)	PTCH1 (R1325Q +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 1303675	NM_000264.5(PTCH1):c.4154C>T (p.Pro1385Leu)	PTCH1 (P1234L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 381582	NM_000264.5(PTCH1):c.4148C>T (p.Pro1383Leu)	PTCH1 (P1317L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 216388	NM_000264.5(PTCH1):c.4141G>A (p.Val1381Met)	PTCH1 (V1315M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 135898	NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 1000142	NM_000264.5(PTCH1):c.4114A>G (p.Thr1372Ala)	PTCH1 (T1221A +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 392004	NM_000264.5(PTCH1):c.4087G>A (p.Gly1363Ser)	PTCH1 (G1297S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 237494	NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 92698	NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +4 more	GBenign/Likely benign
Select item 453879	NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu)	PTCH1 (M1291L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 188148	NM_000264.5(PTCH1):c.4051A>G (p.Asn1351Asp)	PTCH1 (N1285D +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 387632	NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 215461	NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp)	PTCH1 (R1284W +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +6 more	GBenign/Likely benign
Select item 524532	NM_000264.5(PTCH1):c.4041C>A (p.His1347Gln)	PTCH1 (H1347Q +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 219471	NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del)	PTCH1	Deletion (inframe_deletion +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41664	NM_000264.5(PTCH1):c.4027G>A (p.Gly1343Arg)	PTCH1 (G1277R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1057783	NM_000264.5(PTCH1):c.4019G>A (p.Gly1340Asp)	PTCH1 (G1189D +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3231039	NM_000264.5(PTCH1):c.4004A>G (p.Asn1335Ser)	PTCH1 (N1184S +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 188130	NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)	PTCH1 (S1268N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GLikely benign
Select item 486185	NM_000264.5(PTCH1):c.3992C>G (p.Ser1331Cys)	PTCH1 (S1331C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 188209	NM_000264.5(PTCH1):c.3992C>T (p.Ser1331Phe)	PTCH1 (S1265F +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3365259	NM_000264.5(PTCH1):c.3989dup (p.His1330fs)	PTCH1 (H1179fs +4 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1137987	NM_000264.5(PTCH1):c.3987G>A (p.Gly1329=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1044851	NM_000264.5(PTCH1):c.3964G>A (p.Ala1322Thr)	PTCH1 (A1321T +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 1712070	NM_000264.5(PTCH1):c.3956_3957delinsTT (p.Arg1319Leu)	PTCH1 (R1168L +4 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 515292	NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 3364973	NM_000264.5(PTCH1):c.3956G>C (p.Arg1319Pro)	PTCH1 (R1168P +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 215703	NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 409145	NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg)	PTCH1 (P1252R +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2503342	NM_000264.5(PTCH1):c.3945del (p.Tyr1316fs)	PTCH1 (Y1165fs +4 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 409178	NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His)	PTCH1 (P1249H +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 41663	NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu)	PTCH1 (P1249L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GBenign
Select item 392816	NM_000264.5(PTCH1):c.3932T>C (p.Leu1311Ser)	PTCH1 (L1245S +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 659978	NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)	PTCH1 (G1244D +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +5 more	GConflicting classifications of pathogenicity
Select item 824386	NM_000264.5(PTCH1):c.3921dup (p.Arg1308fs)	PTCH1 (R1157fs +4 more)	Duplication (frameshift variant +1 more)	not provided +3 more	GUncertain significance
Select item 188299	NM_000264.5(PTCH1):c.3915C>A (p.Asp1305Glu)	PTCH1 (D1239E +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 237490	NM_000264.5(PTCH1):c.3913G>T (p.Asp1305Tyr)	PTCH1 (D1239Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 237489	NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His)	PTCH1 (R1237H +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 2505019	NM_000264.5(PTCH1):c.3886G>T (p.Gly1296Ter)	PTCH1 (G1145* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 237488	NM_000264.5(PTCH1):c.3876C>T (p.Ser1292=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 41661	NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	PTCH1 (P1216L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GBenign
Select item 965248	NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile)	PTCH1 (V1119I +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 135896	NM_000264.5(PTCH1):c.3805-9C>T	PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 1208347	NM_000264.5(PTCH1):c.3805-166G>A	PTCH1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 677728	NM_000264.5(PTCH1):c.3805-197T>A	PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260548	NM_000264.5(PTCH1):c.3805-225C>T	PTCH1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 574689	NM_000264.5(PTCH1):c.3804+6T>G	PTCH1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2430876	NM_000264.5(PTCH1):c.3792C>A (p.Phe1264Leu)	PTCH1 (F1113L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 135102	NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)	PTCH1 (V1190M +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GBenign/Likely benign
Select item 1429236	NM_000264.5(PTCH1):c.3721_3765del (p.Tyr1241_Ile1255del)	PTCH1	Deletion (inframe_deletion +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 409161	NM_000264.5(PTCH1):c.3743G>A (p.Gly1248Glu)	PTCH1 (G1182E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 857221	NM_000264.5(PTCH1):c.3740C>G (p.Ala1247Gly)	PTCH1 (A1195G +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 409208	NM_000264.5(PTCH1):c.3734A>G (p.Gln1245Arg)	PTCH1 (Q1179R +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 135895	NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala)	PTCH1 (V1165A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 663251	NM_000264.5(PTCH1):c.3664G>A (p.Asp1222Asn)	PTCH1 (D1222N +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell nevus syndrome 1 +4 more	GUncertain significance
Select item 1042318	NM_000264.5(PTCH1):c.3653C>G (p.Ser1218Cys)	PTCH1 (S1152C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 219622	NM_000264.5(PTCH1):c.3642G>A (p.Thr1214=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 216383	NM_000264.5(PTCH1):c.3629C>T (p.Pro1210Leu)	PTCH1 (P1144L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

<< First< Prev

Page of 6