"Ambry Genetics"[submitter] AND "LOC100507346"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 215691	NM_000264.5(PTCH1):c.2560+8_2560+9delinsAC	LOC100507346, PTCH1	Indel (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1793104	NM_000264.5(PTCH1):c.2560+1G>T	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 428818	NM_000264.5(PTCH1):c.2558A>C (p.Gln853Pro)	LOC100507346, PTCH1 (Q787P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 135096	NM_000264.5(PTCH1):c.2558A>G (p.Gln853Arg)	LOC100507346, PTCH1 (Q787R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1793021	NM_000264.5(PTCH1):c.2556T>A (p.Leu852=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2626232	NM_000264.5(PTCH1):c.2549A>T (p.Asp850Val)	LOC100507346, PTCH1 (D798V +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 218279	NM_000264.5(PTCH1):c.2539_2542delinsAG (p.Tyr847fs)	LOC100507346, PTCH1 (Y696fs +4 more)	Indel (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 215690	NM_000264.5(PTCH1):c.2541C>T (p.Tyr847=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2586371	NM_000264.5(PTCH1):c.2537A>C (p.His846Pro)	LOC100507346, PTCH1 (H695P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1078328	NM_000264.5(PTCH1):c.2535G>A (p.Leu845=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 638989	NM_000264.5(PTCH1):c.2528T>C (p.Met843Thr)	LOC100507346, PTCH1 (M692T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1792602	NM_000264.5(PTCH1):c.2527A>G (p.Met843Val)	LOC100507346, PTCH1 (M791V +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2564408	NM_000264.5(PTCH1):c.2521C>T (p.Pro841Ser)	LOC100507346, PTCH1 (P789S +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2046478	NM_000264.5(PTCH1):c.2518C>T (p.Leu840Phe)	LOC100507346, PTCH1 (L774F +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1792480	NM_000264.5(PTCH1):c.2517G>A (p.Gln839=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 1155617	NM_000264.5(PTCH1):c.2514A>G (p.Lys838=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 642884	NM_000264.5(PTCH1):c.2513A>C (p.Lys838Thr)	LOC100507346, PTCH1 (K786T +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 821383	NM_000264.5(PTCH1):c.2512A>G (p.Lys838Glu)	LOC100507346, PTCH1 (K837E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 219974	NM_000264.5(PTCH1):c.2506G>A (p.Glu836Lys)	LOC100507346, PTCH1 (E770K +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 701526	NM_000264.5(PTCH1):c.2505A>G (p.Glu835=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
Select item 1792253	NM_000264.5(PTCH1):c.2500T>C (p.Leu834=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 409144	NM_000264.5(PTCH1):c.2498T>C (p.Met833Thr)	LOC100507346, PTCH1 (M767T +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 524521	NM_000264.5(PTCH1):c.2497A>G (p.Met833Val)	LOC100507346, PTCH1 (M833V +4 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1792110	NM_000264.5(PTCH1):c.2493T>C (p.Tyr831=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1425690	NM_000264.5(PTCH1):c.2492A>G (p.Tyr831Cys)	LOC100507346, PTCH1 (Y680C +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1136707	NM_000264.5(PTCH1):c.2487G>C (p.Val829=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 41655	NM_000264.5(PTCH1):c.2485G>A (p.Val829Met)	LOC100507346, PTCH1 (V763M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 135879	NM_000264.5(PTCH1):c.2484C>T (p.Asn828=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GLikely benign
Select item 2560642	NM_000264.5(PTCH1):c.2481T>A (p.Ser827Arg)	LOC100507346, PTCH1 (S826R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2626217	NM_000264.5(PTCH1):c.2480G>A (p.Ser827Asn)	LOC100507346, PTCH1 (S775N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1791917	NM_000264.5(PTCH1):c.2480G>C (p.Ser827Thr)	LOC100507346, PTCH1 (S676T +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 8223	NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly)	LOC100507346, PTCH1 (S827G +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	PTCH1-related condition +4 more	GBenign
Select item 1618145	NM_000264.5(PTCH1):c.2472G>A (p.Arg824=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 221048	NM_000264.5(PTCH1):c.2469C>T (p.His823=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	PTCH1-related condition +2 more	GLikely benign
Select item 1397983	NM_000264.5(PTCH1):c.2467C>T (p.His823Tyr)	LOC100507346, PTCH1 (H672Y +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 388672	NM_000264.5(PTCH1):c.2466A>G (p.Leu822=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +2 more	GLikely benign
Select item 1791681	NM_000264.5(PTCH1):c.2465T>C (p.Leu822Pro)	LOC100507346, PTCH1 (L756P +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely pathogenic
Select item 524524	NM_000264.5(PTCH1):c.2461G>A (p.Asp821Asn)	LOC100507346, PTCH1 (D821N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GConflicting classifications of pathogenicity
Select item 985024	NM_000264.5(PTCH1):c.2460C>A (p.Tyr820Ter)	LOC100507346, PTCH1 (Y669* +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 367667	NM_000264.5(PTCH1):c.2460C>T (p.Tyr820=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	PTCH1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 786777	NM_000264.5(PTCH1):c.2451C>T (p.His817=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 971365	NM_000264.5(PTCH1):c.2450A>G (p.His817Arg)	LOC100507346, PTCH1 (H816R +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1791424	NM_000264.5(PTCH1):c.2448G>A (p.Gln816=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 821274	NM_000264.5(PTCH1):c.2438_2446dup (p.Pro813_Ile815dup)	LOC100507346, PTCH1	Duplication (inframe_insertion +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 1791380	NM_000264.5(PTCH1):c.2445C>T (p.Ile815=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 188150	NM_000264.5(PTCH1):c.2440A>C (p.Asn814His)	LOC100507346, PTCH1 (N748H +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 415472	NM_000264.5(PTCH1):c.2439G>A (p.Pro813=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	PTCH1-related condition +2 more	GLikely benign
Select item 1357383	NM_000264.5(PTCH1):c.2435_2438del (p.Asp811_Tyr812insTer)	LOC100507346, PTCH1	Deletion (nonsense +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 379219	NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala)	LOC100507346, PTCH1 (P747A +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +3 more	GConflicting classifications of pathogenicity
Select item 850534	NM_000264.5(PTCH1):c.2429C>T (p.Ala810Val)	LOC100507346, PTCH1 (A744V +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1021328	NM_000264.5(PTCH1):c.2422C>G (p.Gln808Glu)	LOC100507346, PTCH1 (Q657E +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1791011	NM_000264.5(PTCH1):c.2420C>A (p.Thr807Asn)	LOC100507346, PTCH1 (T755N +4 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1064186	NM_000264.5(PTCH1):c.2416G>A (p.Val806Ile)	LOC100507346, PTCH1 (V655I +4 more)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1790907	NM_000264.5(PTCH1):c.2412T>C (p.Tyr804=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 1790744	NM_000264.5(PTCH1):c.2401T>A (p.Tyr801Asn)	LOC100507346, PTCH1 (Y650N +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790732	NM_000264.5(PTCH1):c.2400C>G (p.Phe800Leu)	LOC100507346, PTCH1 (F734L +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1790665	NM_000264.5(PTCH1):c.2399T>A (p.Phe800Tyr)	LOC100507346, PTCH1 (F800Y +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2564384	NM_000264.5(PTCH1):c.2394T>C (p.Phe798=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2564386	NM_000264.5(PTCH1):c.2393T>A (p.Phe798Tyr)	LOC100507346, PTCH1 (F746Y +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1133486	NM_000264.5(PTCH1):c.2391C>T (p.Tyr797=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 821186	NM_000264.5(PTCH1):c.2384_2385delinsAT (p.Phe795Tyr)	LOC100507346, PTCH1 (F644Y +4 more)	Indel (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1058952	NM_000264.5(PTCH1):c.2382A>G (p.Gln794=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Gorlin syndrome +1 more	GLikely benign
Select item 1588751	NM_000264.5(PTCH1):c.2379A>G (p.Ala793=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2449689	NM_000264.5(PTCH1):c.2378C>A (p.Ala793Glu)	LOC100507346, PTCH1 (A642E +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 237470	NM_000264.5(PTCH1):c.2376T>C (p.Ala792=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 1663173	NM_000264.5(PTCH1):c.2373T>C (p.Ile791=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 453822	NM_000264.5(PTCH1):c.2370T>C (p.Phe790=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	PTCH1-related condition +2 more	GLikely benign
Select item 453821	NM_000264.5(PTCH1):c.2367C>T (p.Asp789=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 453820	NM_000264.5(PTCH1):c.2364T>C (p.Tyr788=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2449629	NM_000264.5(PTCH1):c.2363A>G (p.Tyr788Cys)	LOC100507346, PTCH1 (Y637C +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 569495	NM_000264.5(PTCH1):c.2361A>C (p.Glu787Asp)	LOC100507346, PTCH1 (E787D +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1790093	NM_000264.5(PTCH1):c.2358A>C (p.Arg786Ser)	LOC100507346, PTCH1 (R785S +4 more)	Single nucleotide variant (missense variant)	Gorlin syndrome +1 more	GUncertain significance
Select item 1790053	NM_000264.5(PTCH1):c.2354C>A (p.Thr785Asn)	LOC100507346, PTCH1 (T784N +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 846828	NM_000264.5(PTCH1):c.2352A>T (p.Glu784Asp)	LOC100507346, PTCH1 (E718D +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 821133	NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln)	LOC100507346, PTCH1 (R783Q +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1482817	NM_000264.5(PTCH1):c.2347C>A (p.Arg783=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1396801	NM_000264.5(PTCH1):c.2347C>G (p.Arg783Gly)	LOC100507346, PTCH1 (R632G +4 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 409197	NM_000264.5(PTCH1):c.2347C>T (p.Arg783Trp)	LOC100507346, PTCH1 (R717W +4 more)	Single nucleotide variant (missense variant)	Gorlin syndrome +2 more	GUncertain significance
Select item 950769	NM_000264.5(PTCH1):c.2338A>C (p.Ile780Leu)	LOC100507346, PTCH1 (I779L +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 1789771	NM_000264.5(PTCH1):c.2335G>A (p.Asp779Asn)	LOC100507346, PTCH1 (D778N +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1789761	NM_000264.5(PTCH1):c.2334G>T (p.Thr778=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 453819	NM_000264.5(PTCH1):c.2334G>A (p.Thr778=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GLikely benign
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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1383715	NM_000264.5(PTCH1):c.2332A>G (p.Thr778Ala)	LOC100507346, PTCH1 (T627A +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 642377	NM_000264.5(PTCH1):c.2328C>G (p.Asp776Glu)	LOC100507346, PTCH1 (D625E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 524541	NM_000264.5(PTCH1):c.2328C>A (p.Asp776Glu)	LOC100507346, PTCH1 (D710E +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 757271	NM_000264.5(PTCH1):c.2325G>C (p.Leu775=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1100103	NM_000264.5(PTCH1):c.2322G>C (p.Gly774=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Gorlin syndrome +1 more	GLikely benign
Select item 1505872	NM_000264.5(PTCH1):c.2320G>A (p.Gly774Arg)	LOC100507346, PTCH1 (G708R +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 215689	NM_000264.5(PTCH1):c.2319C>T (p.Asp773=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Holoprosencephaly 7 +4 more	GBenign/Likely benign
Select item 453818	NM_000264.5(PTCH1):c.2313G>A (p.Val771=)	LOC100507346, PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1789446	NM_000264.5(PTCH1):c.2311G>A (p.Val771Met)	LOC100507346, PTCH1 (V620M +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 638847	NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln)	LOC100507346, PTCH1 (R619Q +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1789383	NM_000264.5(PTCH1):c.2308C>G (p.Arg770Gly)	LOC100507346, PTCH1 (R704G +4 more)	Single nucleotide variant (missense variant +1 more)	Gorlin syndrome +1 more	GUncertain significance
Select item 1789382	NM_000264.5(PTCH1):c.2308C>A (p.Arg770=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
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)	Gorlin syndrome +4 more	GPathogenic
Select item 226039	NM_000264.5(PTCH1):c.2306C>T (p.Thr769Ile)	LOC100507346, PTCH1 (T618I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 135878	NM_000264.5(PTCH1):c.2304C>T (p.Thr768=)	LOC100507346, PTCH1	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 237469	NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile)	LOC100507346, PTCH1 (T702I +4 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity

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