"PreventionGenetics, part of Exact Sciences"[submitter] AND "PTCH1"[ge - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 41667	NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)	PTCH1 (R1376Q +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +5 more	GConflicting classifications of pathogenicity
Select item 647735	NM_000264.5(PTCH1):c.4288A>G (p.Ile1430Val)	PTCH1 (I1364V +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486193	NM_000264.5(PTCH1):c.4255C>A (p.Arg1419=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GConflicting classifications of pathogenicity
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 +3 more	GConflicting classifications of pathogenicity
Select item 132735	NM_000264.5(PTCH1):c.4251C>T (p.His1417=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +3 more	GLikely benign
Select item 216389	NM_000264.5(PTCH1):c.4240G>A (p.Val1414Met)	PTCH1 (V1348M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GLikely benign
Select item 220320	NM_000264.5(PTCH1):c.4218C>T (p.His1406=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 415477	NM_000264.5(PTCH1):c.4212T>C (p.Thr1404=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 453880	NM_000264.5(PTCH1):c.4191C>T (p.Leu1397=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 486172	NM_000264.5(PTCH1):c.4185G>A (p.Gly1395=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
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 41665	NM_000264.5(PTCH1):c.4171C>T (p.Arg1391Trp)	PTCH1 (R1325W +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GLikely benign
Select item 135105	NM_000264.5(PTCH1):c.4162G>A (p.Gly1388Arg)	PTCH1 (G1322R +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 237497	NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GBenign/Likely benign
Select item 220242	NM_000264.5(PTCH1):c.4137C>T (p.Val1379=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 2632776	NM_000264.5(PTCH1):c.4133C>T (p.Thr1378Ile)	PTCH1 (T1227I +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder	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)	PTCH1-related disorder +3 more	GLikely benign
Select item 237494	NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +3 more	GBenign/Likely benign
Select item 92698	NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 486184	NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +3 more	GLikely benign
Select item 577136	NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)	PTCH1 (R1284Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 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)	Holoprosencephaly 7 +4 more	GConflicting classifications of pathogenicity
Select item 409167	NM_000264.5(PTCH1):c.4024C>T (p.Arg1342Cys)	PTCH1 (R1342C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 501988	NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 188130	NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn)	PTCH1 (S1268N +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 515292	NM_000264.5(PTCH1):c.3957C>T (p.Arg1319=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GLikely benign
Select item 215703	NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 132723	NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys)	PTCH1 (Y1250C +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +6 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)	Holoprosencephaly 7 +4 more	GBenign
Select item 132753	NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser)	PTCH1 (P1241S +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +5 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)	PTCH1-related disorder +4 more	GBenign/Likely benign
Select item 132731	NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys)	PTCH1 (R1237C +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +3 more	GBenign/Likely benign
Select item 824336	NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg)	PTCH1 (G1145R +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 41661	NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu)	PTCH1 (P1216L +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +4 more	GBenign
Select item 135896	NM_000264.5(PTCH1):c.3805-9C>T	PTCH1	Single nucleotide variant (intron variant)	PTCH1-related disorder +4 more	GBenign/Likely benign
Select item 255684	NM_000264.5(PTCH1):c.3804+32T>C	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GBenign
Select item 700952	NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GBenign/Likely benign
Select item 135102	NM_000264.5(PTCH1):c.3766G>A (p.Val1256Met)	PTCH1 (V1190M +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +3 more	GBenign/Likely benign
Select item 219738	NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr)	PTCH1 (A1181T +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 850559	NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys)	PTCH1 (E1170K +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 237487	NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 453860	NM_000264.5(PTCH1):c.3669G>A (p.Ser1223=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 453859	NM_000264.5(PTCH1):c.3663C>G (p.Ser1221=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 237484	NM_000264.5(PTCH1):c.3641C>T (p.Thr1214Met)	PTCH1 (T1148M +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +2 more	GLikely benign
Select item 220207	NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser)	PTCH1 (G1146S +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 237483	NM_000264.5(PTCH1):c.3633C>T (p.Pro1211=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +3 more	GLikely benign
Select item 237482	NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 221099	NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +5 more	GBenign
Select item 1732956	NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GBenign/Likely benign
Select item 135100	NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser)	PTCH1 (T1129S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 220553	NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +5 more	GBenign
Select item 135892	NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GBenign/Likely benign
Select item 41660	NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser)	PTCH1 (G1097S +4 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 255683	NM_000264.5(PTCH1):c.3450-15C>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 135891	NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +4 more	GBenign/Likely benign
Select item 453849	NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 135890	NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 135099	NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile)	PTCH1 (V1060I +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 415467	NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 220131	NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +3 more	GConflicting classifications of pathogenicity
Select item 1021838	NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 384488	NM_000264.5(PTCH1):c.3291C>T (p.Thr1097=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 135888	NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GBenign/Likely benign
Select item 524599	NM_000264.5(PTCH1):c.3195C>T (p.Val1065=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 221931	NM_000264.5(PTCH1):c.3191C>T (p.Thr1064Met)	PTCH1 (T998M +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 728336	NM_000264.5(PTCH1):c.3169-7G>A	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GLikely benign
Select item 255682	NM_000264.5(PTCH1):c.3168+34A>G	PTCH1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 8224	NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)	PTCH1 (T1052M +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +5 more	GConflicting classifications of pathogenicity
Select item 409220	NM_000264.5(PTCH1):c.3152G>A (p.Trp1051Ter)	PTCH1 (W1051* +4 more)	Single nucleotide variant (nonsense +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 220385	NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 255681	NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign
Select item 255680	NM_000264.5(PTCH1):c.3117A>G (p.Thr1039=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 219683	NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met)	PTCH1 (V968M +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2630023	NM_000264.5(PTCH1):c.3063C>G (p.Tyr1021Ter)	PTCH1 (Y870* +4 more)	Single nucleotide variant (nonsense +1 more)	PTCH1-related disorder	GLikely pathogenic
Select item 657327	NM_000264.5(PTCH1):c.3032A>G (p.Asn1011Ser)	PTCH1 (N945S +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 480958	NM_000264.5(PTCH1):c.3027C>T (p.Tyr1009=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 2637019	NM_000264.5(PTCH1):c.3022A>G (p.Ser1008Gly)	PTCH1 (S1007G +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder	GUncertain significance
Select item 220451	NM_000264.5(PTCH1):c.2937C>T (p.Asn979=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign
Select item 1602717	NM_000264.5(PTCH1):c.2925T>C (p.Pro975=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 220439	NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Holoprosencephaly 7 +5 more	GBenign/Likely benign
Select item 255679	NM_000264.5(PTCH1):c.2892G>A (p.Pro964=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 255678	NM_000264.5(PTCH1):c.2887+21A>G	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +3 more	GBenign
Select item 698311	NM_000264.5(PTCH1):c.2850C>T (p.His950=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 132698	NM_000264.5(PTCH1):c.2814G>A (p.Gln938=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GLikely benign
Select item 135883	NM_000264.5(PTCH1):c.2787C>T (p.Asn929=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +4 more	GBenign/Likely benign
Select item 524606	NM_000264.5(PTCH1):c.2751C>T (p.Ser917=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 1795302	NM_000264.5(PTCH1):c.2731G>T (p.Asp911Tyr)	PTCH1 (D760Y +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 215694	NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn)	PTCH1 (D832N +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 705160	NM_000264.5(PTCH1):c.2691C>T (p.Ile897=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GLikely benign
Select item 183067	NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn)	PTCH1 (D828N +4 more)	Single nucleotide variant (missense variant +1 more)	PTCH1-related disorder +3 more	GBenign/Likely benign
Select item 453827	NM_000264.5(PTCH1):c.2679C>T (p.Arg893=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 566041	NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys)	PTCH1 (R827C +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 697764	NM_000264.5(PTCH1):c.2670C>T (p.Thr890=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GLikely benign
Select item 486200	NM_000264.5(PTCH1):c.2625T>C (p.Asn875=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related disorder +2 more	GLikely benign
Select item 415468	NM_000264.5(PTCH1):c.2595C>T (p.Thr865=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 1085744	NM_000264.5(PTCH1):c.2592A>G (p.Glu864=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GLikely benign
Select item 3049060	NM_000264.5(PTCH1):c.2561-2053G>A	LOC100507346, PTCH1	Single nucleotide variant (intron variant)	PTCH1-related disorder	GLikely benign
Select item 255677	NM_000264.5(PTCH1):c.2560+9G>C	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +3 more	GBenign
Select item 135882	NM_000264.5(PTCH1):c.2560+8G>A	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +3 more	GBenign/Likely benign
Select item 135881	NM_000264.5(PTCH1):c.2560+7C>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	PTCH1-related disorder +3 more	GBenign/Likely benign

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