ClinVar for MedGen (Select 372134) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3256739	NM_000264.5(PTCH1):c.202-3C>G	LOC130002132, PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7	GLikely pathogenic
Select item 3235225	NM_000264.5(PTCH1):c.394G>A (p.Val132Ile)	PTCH1 (V131I +2 more)	Single nucleotide variant (missense variant +2 more)	Holoprosencephaly 7	GUncertain significance
Select item 3068417	NM_000264.5(PTCH1):c.3272_3273del (p.Gly1091fs)	PTCH1 (G1025fs +4 more)	Deletion (frameshift variant +1 more)	Holoprosencephaly 7	GLikely pathogenic
Select item 1709308	NM_001377229.1(DISP1):c.895C>T (p.Arg299Ter)	DISP1 (R299* +1 more)	Single nucleotide variant (nonsense)	Holoprosencephaly 7	GUncertain significance
Select item 1691518	NM_001083603.3(PTCH1):c.157G>C (p.Glu53Gln)	PTCH1 (E53Q)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1346062	NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala)	LOC100507346, PTCH1 (T595A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1341803	NM_000264.5(PTCH1):c.2560+6A>G	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 1213700	NM_000264.5(PTCH1):c.2561-3T>C	PTCH1	Single nucleotide variant (intron variant)	Holoprosencephaly 7	GUncertain significance
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 1017034	NM_000264.5(PTCH1):c.667C>A (p.Leu223Ile)	PTCH1 (L157I +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 998196	NM_001083603.3(PTCH1):c.74del (p.Pro25fs)	PTCH1 (P25fs)	Deletion (5 prime UTR variant +1 more)	Holoprosencephaly 7 +2 more	GUncertain significance
Select item 976582	NM_000264.5(PTCH1):c.*859C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 976581	NM_000264.5(PTCH1):c.*903G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 970941	NM_000264.5(PTCH1):c.1298C>A (p.Ser433Tyr)	PTCH1 (S432Y +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 951905	NM_000264.5(PTCH1):c.3733C>G (p.Gln1245Glu)	PTCH1 (Q1094E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +2 more	GUncertain significance
Select item 931606	NM_000264.5(PTCH1):c.4178C>T (p.Pro1393Leu)	PTCH1 (P1242L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GUncertain significance
Select item 929567	NM_000264.5(PTCH1):c.2500T>G (p.Leu834Val)	LOC100507346, PTCH1 (L683V +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7	GUncertain significance
Select item 914920	NM_000264.5(PTCH1):c.2368T>G (p.Phe790Val)	LOC100507346, PTCH1 (F639V +4 more)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 914741	NM_000264.5(PTCH1):c.*248C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GBenign
Select item 914740	NM_000264.5(PTCH1):c.*450A>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 914697	NM_000264.5(PTCH1):c.*943T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914696	NM_000264.5(PTCH1):c.*1132G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +2 more	GConflicting classifications of pathogenicity
Select item 914658	NM_000264.5(PTCH1):c.*1638A>G	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914616	NM_000264.5(PTCH1):c.*2263T>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914250	NM_000264.5(PTCH1):c.*478A>G	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914249	NM_000264.5(PTCH1):c.*592C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914203	NM_000264.5(PTCH1):c.*1153C>G	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914202	NM_000264.5(PTCH1):c.*1167A>G	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914201	NM_000264.5(PTCH1):c.*1256C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914158	NM_000264.5(PTCH1):c.*1757C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914157	NM_000264.5(PTCH1):c.*1885G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914156	NM_000264.5(PTCH1):c.*1889G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GBenign/Likely benign
Select item 914112	NM_000264.5(PTCH1):c.*2414C>G	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914111	NM_000264.5(PTCH1):c.*2425A>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 914110	NM_000264.5(PTCH1):c.*2737C>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 913800	NM_000264.5(PTCH1):c.*1353T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 913757	NM_000264.5(PTCH1):c.*2001C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GBenign
Select item 913719	NM_000264.5(PTCH1):c.*2795G>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 913718	NM_000264.5(PTCH1):c.*3111G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 913294	NM_000264.5(PTCH1):c.2703+12G>A	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 913151	NM_000264.5(PTCH1):c.4322C>T (p.Pro1441Leu)	PTCH1 (P1375L +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 913150	NM_000264.5(PTCH1):c.*62C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 913102	NM_000264.5(PTCH1):c.*750G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 913101	NM_000264.5(PTCH1):c.*762G>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 913100	NM_000264.5(PTCH1):c.*787C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GBenign/Likely benign
Select item 912790	NM_000264.5(PTCH1):c.*105G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GBenign
Select item 912789	NM_000264.5(PTCH1):c.*153T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GBenign/Likely benign
Select item 912697	NM_000264.5(PTCH1):c.*1556T>G	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 912656	NM_000264.5(PTCH1):c.*2096G>A	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 912655	NM_000264.5(PTCH1):c.*2180C>T	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 912617	NM_000264.5(PTCH1):c.*3138T>C	PTCH1	Single nucleotide variant (3 prime UTR variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 912334	NM_000264.5(PTCH1):c.-122G>A	LOC130002133, PTCH1	Single nucleotide variant (intron variant +2 more)	Holoprosencephaly 7 +1 more	GUncertain significance
Select item 821764	NM_000264.5(PTCH1):c.2750G>T (p.Ser917Ile)	PTCH1 (S851I +4 more)	Single nucleotide variant (missense variant +1 more)	Holoprosencephaly 7 +2 more	GUncertain significance
Select item 820838	NM_000264.5(PTCH1):c.2190G>C (p.Trp730Cys)	LOC100507346, PTCH1 (W664C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 819886	NM_000264.5(PTCH1):c.1712G>A (p.Arg571Gln)	PTCH1 (R420Q +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 819720	NM_000264.5(PTCH1):c.1646C>T (p.Ala549Val)	PTCH1 (A497V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 696579	NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GBenign/Likely benign
Select item 659978	NM_000264.5(PTCH1):c.3929G>A (p.Gly1310Asp)	PTCH1 (G1244D +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 646640	NM_000264.5(PTCH1):c.4235C>T (p.Pro1412Leu)	PTCH1 (P1411L +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GUncertain significance
Select item 620624	NM_000264.5(PTCH1):c.2059G>A (p.Val687Met)	LOC100507346, PTCH1 (V621M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 620601	NM_000264.5(PTCH1):c.203G>A (p.Gly68Glu)	PTCH1 (G2E +2 more)	Single nucleotide variant (missense variant +2 more)	Basal cell carcinoma, susceptibility to, 1 +4 more	GConflicting classifications of pathogenicity
Select item 579383	NM_000264.5(PTCH1):c.2676C>G (p.Ser892Arg)	PTCH1 (S892R +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +4 more	GUncertain significance
Select item 578248	NM_000264.5(PTCH1):c.949C>T (p.Leu317Phe)	PTCH1 (L251F +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GUncertain significance
Select item 577136	NM_000264.5(PTCH1):c.4049G>A (p.Arg1350Gln)	PTCH1 (R1284Q +4 more)	Single nucleotide variant (missense variant +1 more)	Basal cell carcinoma, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 577111	NM_000264.5(PTCH1):c.4138G>A (p.Ala1380Thr)	PTCH1 (A1380T +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +4 more	GConflicting classifications of pathogenicity
Select item 561094	NM_000264.5(PTCH1):c.1216-1G>A	PTCH1	Single nucleotide variant (splice acceptor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 560251	NM_000264.5(PTCH1):c.842T>C (p.Met281Thr)	PTCH1 (M215T +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GUncertain significance
Select item 524648	NM_000264.5(PTCH1):c.3006G>A (p.Thr1002=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 524607	NM_000264.5(PTCH1):c.63C>T (p.Ile21=)	LOC130002133, PTCH1	Single nucleotide variant (synonymous variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 524595	NM_000264.5(PTCH1):c.3066C>T (p.Ile1022=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 524593	NM_000264.5(PTCH1):c.1546T>G (p.Phe516Val)	PTCH1 (F516V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 524582	NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys)	LOC100507346, PTCH1 (E538K +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 524581	NM_000264.5(PTCH1):c.247T>C (p.Phe83Leu)	PTCH1 (F83L +2 more)	Single nucleotide variant (missense variant +2 more)	Holoprosencephaly 7 +2 more	GConflicting classifications of pathogenicity
Select item 524567	NM_000264.5(PTCH1):c.2413A>G (p.Ile805Val)	LOC100507346, PTCH1 (I805V +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 524547	NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu)	PTCH1 (R1303L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 524544	NM_000264.5(PTCH1):c.901G>A (p.Asp301Asn)	PTCH1 (D235N +3 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 524521	NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)	LOC100507346, PTCH1 (M833V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 524507	NM_000264.5(PTCH1):c.2287G>T (p.Val763Phe)	LOC100507346, PTCH1 (V763F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 486195	NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala)	LOC130002133, PTCH1 (G25A)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486183	NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His)	PTCH1 (R1126H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 486175	NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GBenign/Likely benign
Select item 486174	NM_000264.5(PTCH1):c.412C>T (p.Arg138Cys)	PTCH1 (R138C +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 486171	NM_000264.5(PTCH1):c.4134T>C (p.Thr1378=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 486169	NM_000264.5(PTCH1):c.254G>A (p.Arg85Lys)	PTCH1 (R19K +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 453823	NM_000264.5(PTCH1):c.2408T>C (p.Met803Thr)	LOC100507346, PTCH1 (M737T +4 more)	Single nucleotide variant (missense variant)	Gorlin syndrome +3 more	GUncertain significance
Select item 430657	NM_000264.5(PTCH1):c.2834delinsAGATGTTGTGGACCC (p.Arg945fs)	PTCH1 (R879fs +4 more)	Indel (frameshift variant +1 more)	Holoprosencephaly 7	GLikely pathogenic
Select item 415493	NM_000264.5(PTCH1):c.777C>T (p.Phe259=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 415469	NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)	PTCH1 (S1280L +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 409215	NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr)	PTCH1 (A61T)	Single nucleotide variant (missense variant +2 more)	not provided +4 more	GConflicting classifications of pathogenicity
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 409194	NM_000264.5(PTCH1):c.2176C>T (p.Pro726Ser)	LOC100507346, PTCH1 (P726S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 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 409166	NM_000264.5(PTCH1):c.11C>G (p.Ala4Gly)	LOC130002133, PTCH1 (A4G)	Single nucleotide variant (missense variant +2 more)	not provided +3 more	GUncertain significance
Select item 409162	NM_000264.5(PTCH1):c.2308C>T (p.Arg770Ter)	LOC100507346, PTCH1 (R704* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 more	GPathogenic
Select item 409155	NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn)	PTCH1 (D1146N +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409142	NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr)	PTCH1 (A385T +3 more)	Single nucleotide variant (missense variant +2 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409137	NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys)	PTCH1 (E380K +3 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 409136	NM_000264.5(PTCH1):c.2333C>T (p.Thr778Met)	LOC100507346, PTCH1 (T712M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +3 more	GConflicting classifications of pathogenicity
Select item 392490	NM_000264.5(PTCH1):c.1215+14C>T	PTCH1	Single nucleotide variant (intron variant)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 390530	NM_000264.5(PTCH1):c.3449+11G>A	PTCH1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity

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