ClinVar for MedGen (Select 2554) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25779031.	NM_003738.5(PTCH2):c.3430G>A (p.Gly1144Arg) GRCh37: Chr1:45288269 GRCh38: Chr1:44822597	PTCH2	G1144R	Gorlin syndrome	Uncertain significance (Jul 11, 2023)	criteria provided, single submitter
Select item 25778972.	NM_016169.4(SUFU):c.1147_1150del (p.Leu383fs) GRCh37: Chr10:104375147-104375150 GRCh38: Chr10:102615390-102615393	SUFU	L383fs	Gorlin syndrome	Pathogenic (May 23, 2023)	criteria provided, single submitter
Select item 25778923.	NM_003738.5(PTCH2):c.515T>C (p.Met172Thr) GRCh37: Chr1:45297657 GRCh38: Chr1:44831985	PTCH2	M172T	Gorlin syndrome	Uncertain significance (May 31, 2023)	criteria provided, single submitter
Select item 25765664.	NM_003738.5(PTCH2):c.1302_1305delinsACCA (p.Leu435Pro) GRCh37: Chr1:45294895-45294898 GRCh38: Chr1:44829223-44829226	PTCH2	L435P	Gorlin syndrome	Pathogenic (Jul 5, 2023)	criteria provided, single submitter
Select item 25052965.	NM_000264.5(PTCH1):c.655-1G>T GRCh37: Chr9:98244323 GRCh38: Chr9:95482041	PTCH1		Gorlin syndrome	Likely pathogenic (Jun 14, 2023)	criteria provided, single submitter
Select item 24983776.	NM_000264.5(PTCH1):c.2816C>G (p.Ala939Gly) GRCh37: Chr9:98221953 GRCh38: Chr9:95459671	PTCH1	A788G, A873G, A887G, A938G, A939G	Gorlin syndrome	Uncertain significance (Apr 13, 2023)	no assertion criteria provided
Select item 24448627.	NM_003738.5(PTCH2):c.2416A>G (p.Thr806Ala) GRCh37: Chr1:45292937 GRCh38: Chr1:44827265	PTCH2	T806A	Gorlin syndrome	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 24444028.	NM_000264.5(PTCH1):c.2924del (p.Pro975fs) GRCh37: Chr9:98220539 GRCh38: Chr9:95458257	PTCH1	P824fs, P909fs, P923fs, P974fs, P975fs	Gorlin syndrome	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24443599.	NM_000264.5(PTCH1):c.2086dup (p.Thr696fs) GRCh37: Chr9:98231196-98231197 GRCh38: Chr9:95468914-95468915	LOC100507346, PTCH1	T545fs, T630fs, T644fs, T695fs, T696fs	Gorlin syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244419510.	NM_001083603.3(PTCH1):c.91del (p.Tyr31fs) GRCh37: Chr9:98279012 GRCh38: Chr9:95516730	PTCH1	Y31fs	Gorlin syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 244418311.	NM_000264.5(PTCH1):c.290_291insG (p.Asn97fs) GRCh37: Chr9:98268792-98268793 GRCh38: Chr9:95506510-95506511	PTCH1	N31fs, N96fs, N97fs	Gorlin syndrome	Likely pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 243026512.	NM_000264.5(PTCH1):c.2286_2287dup (p.Val763fs) GRCh37: Chr9:98229670-98229671 GRCh38: Chr9:95467388-95467389	LOC100507346, PTCH1	V612fs, V697fs, V711fs, V762fs, V763fs	Gorlin syndrome	Likely pathogenic (Jan 12, 2023)	criteria provided, single submitter
Select item 242824013.	NM_000264.5(PTCH1):c.781C>G (p.Pro261Ala) GRCh37: Chr9:98242836 GRCh38: Chr9:95480554	PTCH1	P110A, P195A, P260A, P261A	Gorlin syndrome	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 242796014.	NM_000264.5(PTCH1):c.1224T>C (p.His408=) GRCh37: Chr9:98240460 GRCh38: Chr9:95478178	PTCH1		Gorlin syndrome	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 242777515.	NM_003738.5(PTCH2):c.1032_1035del (p.Ser344fs) GRCh37: Chr1:45295334-45295337 GRCh38: Chr1:44829662-44829665	PTCH2	S344fs	Gorlin syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 242748116.	NM_000264.5(PTCH1):c.2707A>G (p.Thr903Ala) GRCh37: Chr9:98222062 GRCh38: Chr9:95459780	PTCH1	T752A, T837A, T851A, T902A, T903A	Gorlin syndrome	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 242627617.	NC_000010.10:g.(?_104262628)_(104309873_?)dup GRCh37: Chr10:104262628-104309873	SUFU		Medulloblastoma, Gorlin syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, single submitter
Select item 242475318.	NC_000001.10:g.(?_45290013)_(45292899_?)del GRCh37: Chr1:45290013-45292899	PTCH2		Gorlin syndrome	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 242475219.	NC_000001.10:g.(?_45288087)_(45308604_?)dup GRCh37: Chr1:45288087-45308604	PTCH2		Gorlin syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 242168920.	NM_000264.5(PTCH1):c.654+17T>C GRCh37: Chr9:98244399 GRCh38: Chr9:95482117	PTCH1		Gorlin syndrome	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 242057521.	NM_000264.5(PTCH1):c.52_57del (p.Ser18_Gly19del) GRCh37: Chr9:98270587-98270592 GRCh38: Chr9:95508305-95508310	PTCH1		Gorlin syndrome	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 241969822.	NM_000264.5(PTCH1):c.746+9G>A GRCh37: Chr9:98244222 GRCh38: Chr9:95481940	PTCH1		Gorlin syndrome	Likely benign (Jan 6, 2022)	criteria provided, single submitter
Select item 241958423.	NM_000264.5(PTCH1):c.3518T>C (p.Val1173Ala) GRCh37: Chr9:98212154 GRCh38: Chr9:95449872	PTCH1	V1022A, V1107A, V1121A, V1172A, V1173A	Gorlin syndrome	Uncertain significance (May 1, 2022)	criteria provided, single submitter
Select item 241829824.	NM_000264.5(PTCH1):c.1603-13T>C GRCh37: Chr9:98238454 GRCh38: Chr9:95476172	PTCH1		Gorlin syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 241771325.	NM_003738.5(PTCH2):c.2695+11G>T GRCh37: Chr1:45292563 GRCh38: Chr1:44826891	PTCH2		Gorlin syndrome	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 241614226.	NM_000264.5(PTCH1):c.4267A>G (p.Arg1423Gly) GRCh37: Chr9:98209271 GRCh38: Chr9:95446989	PTCH1	R1272G, R1357G, R1371G, R1422G, R1423G	Gorlin syndrome	Uncertain significance (Jan 13, 2022)	criteria provided, single submitter
Select item 241601327.	NM_003738.5(PTCH2):c.1591-5C>G GRCh37: Chr1:45294091 GRCh38: Chr1:44828419	PTCH2		Gorlin syndrome	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 241542228.	NM_016169.4(SUFU):c.1157+20CA[4] GRCh37: Chr10:104375178-104375179 GRCh38: Chr10:102615421-102615422	SUFU		Medulloblastoma, Gorlin syndrome	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 241420229.	NM_016169.4(SUFU):c.1147C>T (p.Leu383Phe) GRCh37: Chr10:104375149 GRCh38: Chr10:102615392	SUFU	L383F	Medulloblastoma, Gorlin syndrome, Hereditary cancer-predisposing syndrome	Uncertain significance (Dec 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 241327730.	NM_003738.5(PTCH2):c.2572A>G (p.Met858Val) GRCh37: Chr1:45292697 GRCh38: Chr1:44827025	PTCH2	M858V	Gorlin syndrome	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 220325631.	NM_003738.5(PTCH2):c.563C>G (p.Pro188Arg) GRCh37: Chr1:45297432 GRCh38: Chr1:44831760	PTCH2	P188R	Inborn genetic diseases, Gorlin syndrome	Uncertain significance (Feb 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 220219632.	NM_003738.5(PTCH2):c.3258-17C>G GRCh37: Chr1:45288857 GRCh38: Chr1:44823185	PTCH2		Gorlin syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 220163833.	NM_003738.5(PTCH2):c.1685_1709+14dup GRCh37: Chr1:45293953-45293954 GRCh38: Chr1:44828281-44828282	PTCH2		Gorlin syndrome	Uncertain significance (Sep 30, 2022)	criteria provided, single submitter
Select item 220162134.	NM_000264.5(PTCH1):c.52A>T (p.Ser18Cys) GRCh37: Chr9:98270592 GRCh38: Chr9:95508310	PTCH1	S18C	Gorlin syndrome	Benign (Sep 19, 2022)	criteria provided, single submitter
Select item 220140035.	NM_000264.5(PTCH1):c.2404A>G (p.Asn802Asp) GRCh37: Chr9:98229554 GRCh38: Chr9:95467272	LOC100507346, PTCH1	N736D, N651D, N801D, N750D, N802D	Gorlin syndrome	Uncertain significance (Dec 11, 2021)	criteria provided, single submitter
Select item 220131736.	NM_003738.5(PTCH2):c.200G>C (p.Gly67Ala) GRCh37: Chr1:45307584 GRCh38: Chr1:44841912	PTCH2	G67A	Gorlin syndrome	Uncertain significance (Sep 10, 2022)	criteria provided, single submitter
Select item 220064037.	NM_000264.5(PTCH1):c.2251-15C>A GRCh37: Chr9:98229722 GRCh38: Chr9:95467440	LOC100507346, PTCH1		Gorlin syndrome	Likely benign (May 2, 2022)	criteria provided, single submitter
Select item 220036638.	NM_003738.5(PTCH2):c.1622C>T (p.Ala541Val) GRCh37: Chr1:45294055 GRCh38: Chr1:44828383	PTCH2	A541V	Gorlin syndrome	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 220004939.	NM_000264.5(PTCH1):c.716C>T (p.Ala239Val) GRCh37: Chr9:98244261 GRCh38: Chr9:95481979	PTCH1	A173V, A88V, A238V, A239V	Gorlin syndrome	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 219933440.	NM_000264.5(PTCH1):c.2251-4C>G GRCh37: Chr9:98229711 GRCh38: Chr9:95467429	LOC100507346, PTCH1		Gorlin syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 219915741.	NM_000264.5(PTCH1):c.1216-16T>C GRCh37: Chr9:98240484 GRCh38: Chr9:95478202	PTCH1		Gorlin syndrome	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 219838442.	NM_000264.5(PTCH1):c.946-14T>G GRCh37: Chr9:98242386 GRCh38: Chr9:95480104	PTCH1		Gorlin syndrome	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 219835843.	NM_003738.5(PTCH2):c.1309G>A (p.Val437Met) GRCh37: Chr1:45294891 GRCh38: Chr1:44829219	PTCH2	V437M	Gorlin syndrome	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 219805644.	NM_000264.5(PTCH1):c.1772T>C (p.Ile591Thr) GRCh37: Chr9:98232170 GRCh38: Chr9:95469888	LOC100507346, PTCH1	I525T, I440T, I591T, I539T, I590T	Gorlin syndrome	Uncertain significance (Mar 14, 2022)	criteria provided, single submitter
Select item 219797645.	NM_000264.5(PTCH1):c.641G>A (p.Gly214Asp) GRCh37: Chr9:98244429 GRCh38: Chr9:95482147	PTCH1	G148D, G213D, G63D, G214D	Gorlin syndrome	Uncertain significance (Apr 30, 2022)	criteria provided, single submitter
Select item 219758346.	NM_000264.5(PTCH1):c.3169-17T>C GRCh37: Chr9:98218712 GRCh38: Chr9:95456430	PTCH1		Gorlin syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 219746547.	NM_003738.5(PTCH2):c.3313G>A (p.Val1105Met) GRCh37: Chr1:45288785 GRCh38: Chr1:44823113	PTCH2	V1105M	Inborn genetic diseases, Gorlin syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219693348.	NM_003738.5(PTCH2):c.525+6T>C GRCh37: Chr1:45297641 GRCh38: Chr1:44831969	PTCH2		Gorlin syndrome	Uncertain significance (Jan 1, 2022)	criteria provided, single submitter
Select item 219655649.	NM_003738.5(PTCH2):c.2376C>T (p.Ile792=) GRCh37: Chr1:45292977 GRCh38: Chr1:44827305	PTCH2		Gorlin syndrome	Likely benign (Sep 16, 2022)	criteria provided, single submitter
Select item 219633650.	NM_000264.5(PTCH1):c.2704-1G>A GRCh37: Chr9:98222066 GRCh38: Chr9:95459784	PTCH1		Gorlin syndrome	Likely pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 219632251.	NM_003738.5(PTCH2):c.1372-1G>T GRCh37: Chr1:45294747 GRCh38: Chr1:44829075	PTCH2		Gorlin syndrome	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 219625652.	NM_000264.5(PTCH1):c.1046A>G (p.Asn349Ser) GRCh37: Chr9:98242272 GRCh38: Chr9:95479990	PTCH1	N283S, N349S, N198S, N348S	Hereditary cancer-predisposing syndrome, Gorlin syndrome	Uncertain significance (Mar 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219605053.	NM_003738.5(PTCH2):c.1761G>T (p.Gly587=) GRCh37: Chr1:45293812 GRCh38: Chr1:44828140	PTCH2		Gorlin syndrome	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 219595654.	NM_000264.5(PTCH1):c.156G>A (p.Arg52=) GRCh37: Chr9:98270488 GRCh38: Chr9:95508206	PTCH1		Hereditary cancer-predisposing syndrome, Gorlin syndrome	Likely benign (May 21, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219562355.	NM_000264.5(PTCH1):c.2902C>T (p.Pro968Ser) GRCh37: Chr9:98220561 GRCh38: Chr9:95458279	PTCH1	P902S, P916S, P967S, P817S, P968S	Gorlin syndrome	Uncertain significance (Jan 4, 2022)	criteria provided, single submitter
Select item 219554956.	NM_000264.5(PTCH1):c.4330A>C (p.Ser1444Arg) GRCh37: Chr9:98209208 GRCh38: Chr9:95446926	PTCH1	S1443R, S1293R, S1444R, S1378R, S1392R	Gorlin syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 219552557.	NM_000264.5(PTCH1):c.3810C>A (p.Val1270=) GRCh37: Chr9:98209728 GRCh38: Chr9:95447446	PTCH1		Hereditary cancer-predisposing syndrome, Gorlin syndrome	Likely benign (Nov 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219444758.	NM_003738.5(PTCH2):c.2048C>T (p.Ser683Leu) GRCh37: Chr1:45293525 GRCh38: Chr1:44827853	PTCH2	S683L	Gorlin syndrome	Uncertain significance (Feb 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219373659.	NM_000264.5(PTCH1):c.2421C>A (p.Thr807=) GRCh37: Chr9:98229537 GRCh38: Chr9:95467255	LOC100507346, PTCH1		Gorlin syndrome	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 219350760.	NM_000264.5(PTCH1):c.987C>T (p.Gly329=) GRCh37: Chr9:98242331 GRCh38: Chr9:95480049	PTCH1		Gorlin syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 219347861.	NM_000264.5(PTCH1):c.224C>T (p.Ala75Val) GRCh37: Chr9:98268859 GRCh38: Chr9:95506577	PTCH1	A74V, A9V, A75V	Gorlin syndrome	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 219347562.	NM_000264.5(PTCH1):c.3173T>C (p.Met1058Thr) GRCh37: Chr9:98218691 GRCh38: Chr9:95456409	PTCH1	M1058T, M1057T, M907T, M992T, M1006T	Gorlin syndrome	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 219332163.	NM_000264.5(PTCH1):c.330G>A (p.Gly110=) GRCh37: Chr9:98268753 GRCh38: Chr9:95506471	PTCH1		Gorlin syndrome	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 219299464.	NM_016169.4(SUFU):c.1387A>G (p.Ser463Gly) GRCh37: Chr10:104389844 GRCh38: Chr10:102630087	SUFU	S463G	Gorlin syndrome, Medulloblastoma	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 219289865.	NM_003738.5(PTCH2):c.253C>T (p.Leu85Phe) GRCh37: Chr1:45307531 GRCh38: Chr1:44841859	PTCH2	L85F	Gorlin syndrome	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 219289366.	NM_016169.4(SUFU):c.455-15G>A GRCh37: Chr10:104352324 GRCh38: Chr10:102592567	SUFU		Medulloblastoma, Gorlin syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 219226567.	NM_016169.4(SUFU):c.1134A>G (p.Gly378=) GRCh37: Chr10:104375136 GRCh38: Chr10:102615379	SUFU		Medulloblastoma, Gorlin syndrome	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 219216268.	NM_000264.5(PTCH1):c.702C>T (p.Cys234=) GRCh37: Chr9:98244275 GRCh38: Chr9:95481993	PTCH1		Gorlin syndrome	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 219182769.	NM_003738.5(PTCH2):c.2312C>A (p.Pro771His) GRCh37: Chr1:45293133 GRCh38: Chr1:44827461	PTCH2	P771H	Gorlin syndrome	Uncertain significance (Sep 25, 2022)	criteria provided, single submitter
Select item 219181970.	NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly) GRCh37: Chr9:98224271 GRCh38: Chr9:95461989	PTCH1	D791G, D856G, D857G, D706G, D805G	Gorlin syndrome	Benign (Oct 7, 2022)	criteria provided, single submitter
Select item 219175271.	NM_003738.5(PTCH2):c.2185G>T (p.Ala729Ser) GRCh37: Chr1:45293260 GRCh38: Chr1:44827588	PTCH2	A729S	Gorlin syndrome	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 219124272.	NM_003738.5(PTCH2):c.991C>T (p.His331Tyr) GRCh37: Chr1:45295378 GRCh38: Chr1:44829706	PTCH2	H331Y	Gorlin syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 218905673.	NM_000264.5(PTCH1):c.186G>A (p.Leu62=) GRCh37: Chr9:98270458 GRCh38: Chr9:95508176	PTCH1		Gorlin syndrome	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 218760874.	NM_003738.5(PTCH2):c.2252A>T (p.His751Leu) GRCh37: Chr1:45293193 GRCh38: Chr1:44827521	PTCH2	H751L	Gorlin syndrome	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 218730675.	NM_003738.5(PTCH2):c.1763C>T (p.Thr588Ile) GRCh37: Chr1:45293810 GRCh38: Chr1:44828138	PTCH2	T588I	Gorlin syndrome	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 218718376.	NM_000264.5(PTCH1):c.182C>T (p.Ala61Val) GRCh37: Chr9:98270462 GRCh38: Chr9:95508180	PTCH1	A61V	Gorlin syndrome	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 218714277.	NM_003738.5(PTCH2):c.104G>C (p.Trp35Ser) GRCh37: Chr1:45307680 GRCh38: Chr1:44842008	PTCH2	W35S	Gorlin syndrome	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 218605778.	NM_003738.5(PTCH2):c.2217G>A (p.Val739=) GRCh37: Chr1:45293228 GRCh38: Chr1:44827556	PTCH2		Gorlin syndrome	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 218572379.	NM_003738.5(PTCH2):c.526-17C>T GRCh37: Chr1:45297486 GRCh38: Chr1:44831814	PTCH2		Gorlin syndrome	Likely benign (Oct 19, 2022)	criteria provided, single submitter
Select item 218572180.	NM_003738.5(PTCH2):c.1568dup (p.Leu524fs) GRCh37: Chr1:45294199-45294200 GRCh38: Chr1:44828527-44828528	PTCH2	L524fs	Gorlin syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 218542881.	NM_003738.5(PTCH2):c.3329T>C (p.Leu1110Pro) GRCh37: Chr1:45288769 GRCh38: Chr1:44823097	PTCH2	L1110P	Gorlin syndrome	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 218495782.	NM_003738.5(PTCH2):c.2976+1G>A GRCh37: Chr1:45292159 GRCh38: Chr1:44826487	PTCH2		Gorlin syndrome	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 218450583.	NM_000264.5(PTCH1):c.471C>T (p.Leu157=) GRCh37: Chr9:98248080 GRCh38: Chr9:95485798	PTCH1		Gorlin syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 218407484.	NM_016169.4(SUFU):c.1434G>A (p.Val478=) GRCh37: Chr10:104389891 GRCh38: Chr10:102630134	SUFU		Medulloblastoma, Gorlin syndrome	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 218267585.	NM_000264.5(PTCH1):c.1504-15_1504-14del GRCh37: Chr9:98239153-98239154 GRCh38: Chr9:95476871-95476872	PTCH1		Gorlin syndrome	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 218266786.	NM_000264.5(PTCH1):c.585-10A>G GRCh37: Chr9:98244495 GRCh38: Chr9:95482213	PTCH1		Gorlin syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 218224387.	NM_000264.5(PTCH1):c.3392T>C (p.Val1131Ala) GRCh37: Chr9:98215817 GRCh38: Chr9:95453535	PTCH1	V1065A, V1130A, V980A, V1131A, V1079A	Hereditary cancer-predisposing syndrome, Gorlin syndrome	Conflicting interpretations of pathogenicity (May 2, 2023)	criteria provided, conflicting interpretations
Select item 218204588.	NM_003738.5(PTCH2):c.2699C>T (p.Pro900Leu) GRCh37: Chr1:45292437 GRCh38: Chr1:44826765	PTCH2	P900L	Gorlin syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 218092689.	NM_000264.5(PTCH1):c.2478C>G (p.Phe826Leu) GRCh37: Chr9:98229480 GRCh38: Chr9:95467198	LOC100507346, PTCH1	F825L, F826L, F675L, F760L, F774L	Gorlin syndrome	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 218012990.	NM_016169.4(SUFU):c.137C>G (p.Pro46Arg) GRCh37: Chr10:104264046 GRCh38: Chr10:102504289	SUFU	P46R	Medulloblastoma, Gorlin syndrome	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 217978791.	NM_000264.5(PTCH1):c.3625A>G (p.Met1209Val) GRCh37: Chr9:98211530 GRCh38: Chr9:95449248	PTCH1	M1058V, M1143V, M1209V, M1208V, M1157V	Gorlin syndrome	Benign (Oct 23, 2022)	criteria provided, single submitter
Select item 217946392.	NM_016169.4(SUFU):c.492C>T (p.His164=) GRCh37: Chr10:104352376 GRCh38: Chr10:102592619	SUFU		Medulloblastoma, Gorlin syndrome	Likely benign (Jul 18, 2022)	criteria provided, single submitter
Select item 217863793.	NM_003738.5(PTCH2):c.1725G>A (p.Gln575=) GRCh37: Chr1:45293848 GRCh38: Chr1:44828176	PTCH2		Gorlin syndrome	Uncertain significance (May 18, 2022)	criteria provided, single submitter
Select item 217833894.	NM_000264.5(PTCH1):c.1848-7C>A GRCh37: Chr9:98231442 GRCh38: Chr9:95469160	LOC100507346, PTCH1		Gorlin syndrome	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 217751195.	NM_003738.5(PTCH2):c.202G>A (p.Ala68Thr) GRCh37: Chr1:45307582 GRCh38: Chr1:44841910	PTCH2	A68T	Gorlin syndrome	Uncertain significance (Feb 24, 2022)	criteria provided, single submitter
Select item 217694196.	NM_003738.5(PTCH2):c.1398C>T (p.Ile466=) GRCh37: Chr1:45294720 GRCh38: Chr1:44829048	PTCH2		Gorlin syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 217631597.	NM_000264.5(PTCH1):c.134C>T (p.Pro45Leu) GRCh37: Chr9:98270510 GRCh38: Chr9:95508228	PTCH1	P45L	Gorlin syndrome	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 217499798.	NM_003738.5(PTCH2):c.1940G>A (p.Gly647Asp) GRCh37: Chr1:45293633 GRCh38: Chr1:44827961	PTCH2	G647D	Gorlin syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 217431399.	NM_003738.5(PTCH2):c.1308G>A (p.Ala436=) GRCh37: Chr1:45294892 GRCh38: Chr1:44829220	PTCH2		Gorlin syndrome	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 2173849100.	NM_000264.5(PTCH1):c.4214A>G (p.Asp1405Gly) GRCh37: Chr9:98209324 GRCh38: Chr9:95447042	PTCH1	D1339G, D1254G, D1353G, D1405G, D1404G	Gorlin syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter

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