8643[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1545141.	GRCh38/hg38 1p34.1(chr1:43896056-44867736)x3 GRCh37: Chr1:44361728-45333408 GRCh38: Chr1:43896056-44867736	LOC112590795, LOC122056854, LOC122056855, LOC122056856, LOC126805725, LOC126805726, LOC126805727, LOC128900003, LOC128900004, LOC129388505, LOC129930392, LOC129930393, LOC129930394, LOC129930395, LOC129930396, LOC129930397, LOC129930398, LOC129930399, LOC129930400, LOC129930401, LOC129930402, LOC129930403, LOC129930404, LOC129930405, LOC129930406, LOC129930407, LOC129930408, LOC129930409, LOC129930410, LOC129930411, LOC129930412, LOC129930413, LOC129930414, LOC129930415, LOC129930416, LOC129930417, LOC129930418, LOC129930419, LOC129930420, LOC129930421, LOC129930422, LOC129930423, LOC129930424, LOC129930425, LOC129930426, LOC129930427, LOC129930428, LOC132088721, LOC132088722, MIR5584, PLK3, PTCH2, RNF220, RNU5D-1, RNU5F-1, RPS8, SLC6A9, SNORA110, SNORD145, SNORD160, SNORD38A, SNORD38B, SNORD46, SNORD55, ST3GAL3, TMEM53, ARMH1, ARTN, ATP6V0B, B4GALT2, BEST4, BTBD19, CCDC24, DMAP1, DPH2, DYNLT4, EIF2B3, ERI3, ERI3-IT1, IPO13, KIF2C, KLF17, KLF18, LOC101929609, LOC110120642, LOC110120644, LOC110121214, LOC112590792, LOC112590793, LOC112590794		See cases	Uncertain significance (Dec 22, 2010)	no assertion criteria provided
Select item 574292.	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3 GRCh37: Chr1:45179509-45748571 GRCh38: Chr1:44713837-45282899	ARMH1, BEST4, BTBD19, DYNLT4, EIF2B3, HECTD3, KIF2C, LOC112590799, LOC122056855, LOC122056856, LOC126805727, LOC129388506, LOC129388507, LOC129930418, LOC129930419, LOC129930420, LOC129930421, LOC129930422, LOC129930423, LOC129930424, LOC129930425, LOC129930426, LOC129930427, LOC129930428, LOC129930429, LOC129930430, LOC129930431, LOC129930432, LOC129930433, PLK3, PTCH2, RNU5D-1, RNU5F-1, RPS8, SNORD160, SNORD38A, SNORD38B, SNORD46, SNORD55, UROD, ZSWIM5		See cases	Uncertain significance (Aug 12, 2011)	criteria provided, single submitter
Select item 1547683.	GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3 GRCh37: Chr1:45282802-45696079 GRCh38: Chr1:44817130-45230407	EIF2B3, HECTD3, LOC112590799, LOC129388506, LOC129388507, LOC129930428, LOC129930429, LOC129930430, LOC129930431, LOC129930432, LOC129930433, PTCH2, UROD, ZSWIM5		See cases	Uncertain significance (Sep 21, 2012)	no assertion criteria provided
Select item 26387794.	NM_001166292.2(PTCH2):c.3425+728T>C GRCh37: Chr1:45287546 GRCh38: Chr1:44821874	PTCH2		not provided	Likely benign (Apr 1, 2023)	criteria provided, single submitter
Select item 14299425.	NM_003738.5(PTCH2):c.3607G>A (p.Gly1203Arg) GRCh37: Chr1:45288092 GRCh38: Chr1:44822420	PTCH2	G1203R	Gorlin syndrome	Uncertain significance (Aug 25, 2021)	criteria provided, single submitter
Select item 11507006.	NM_003738.5(PTCH2):c.3606T>C (p.Thr1202=) GRCh37: Chr1:45288093 GRCh38: Chr1:44822421	PTCH2		Gorlin syndrome	Likely benign (Oct 2, 2021)	criteria provided, single submitter
Select item 19283987.	NM_003738.5(PTCH2):c.3601G>C (p.Ala1201Pro) GRCh37: Chr1:45288098 GRCh38: Chr1:44822426	PTCH2	A1201P	PTCH2-related condition, Gorlin syndrome	Uncertain significance (Sep 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21645748.	NM_003738.5(PTCH2):c.3590del (p.Gly1197fs) GRCh37: Chr1:45288109 GRCh38: Chr1:44822437	PTCH2	G1197fs	Gorlin syndrome	Uncertain significance (May 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6610219.	NM_003738.5(PTCH2):c.3590G>A (p.Gly1197Glu) GRCh37: Chr1:45288109 GRCh38: Chr1:44822437	PTCH2	G1197E	Gorlin syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 69950210.	NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg) GRCh37: Chr1:45288110 GRCh38: Chr1:44822438	PTCH2	G1197R	Gorlin syndrome	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 243179111.	NM_003738.5(PTCH2):c.3584C>T (p.Ser1195Phe) GRCh37: Chr1:45288115 GRCh38: Chr1:44822443	PTCH2	S1195F	Breast carcinoma	Uncertain significance (Sep 16, 2022)	criteria provided, single submitter
Select item 239776312.	NM_003738.5(PTCH2):c.3583T>A (p.Ser1195Thr) GRCh37: Chr1:45288116 GRCh38: Chr1:44822444	PTCH2	S1195T	Inborn genetic diseases	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 58057413.	NM_003738.5(PTCH2):c.3566G>C (p.Ser1189Thr) GRCh37: Chr1:45288133 GRCh38: Chr1:44822461	PTCH2	S1189T	See cases, Gorlin syndrome	Uncertain significance (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 108204814.	NM_003738.5(PTCH2):c.3564T>A (p.Thr1188=) GRCh37: Chr1:45288135 GRCh38: Chr1:44822463	PTCH2		Gorlin syndrome	Likely benign (Feb 24, 2020)	criteria provided, single submitter
Select item 100659115.	NM_003738.5(PTCH2):c.3553C>T (p.Pro1185Ser) GRCh37: Chr1:45288146 GRCh38: Chr1:44822474	PTCH2	P1185S	Gorlin syndrome	Uncertain significance (Nov 11, 2021)	criteria provided, single submitter
Select item 57002416.	NM_003738.5(PTCH2):c.3548G>A (p.Trp1183Ter) GRCh37: Chr1:45288151 GRCh38: Chr1:44822479	PTCH2	W1183*	Gorlin syndrome	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 105242617.	NM_003738.5(PTCH2):c.3539_3542dup (p.Pro1182fs) GRCh37: Chr1:45288156-45288157 GRCh38: Chr1:44822484-44822485	PTCH2	P1182fs	Gorlin syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 205081218.	NM_003738.5(PTCH2):c.3524A>G (p.His1175Arg) GRCh37: Chr1:45288175 GRCh38: Chr1:44822503	PTCH2	H1175R	Gorlin syndrome	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 64172319.	NM_003738.5(PTCH2):c.3518A>G (p.Tyr1173Cys) GRCh37: Chr1:45288181 GRCh38: Chr1:44822509	PTCH2	Y1173C	Gorlin syndrome	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 148892720.	NM_003738.5(PTCH2):c.3506del (p.Leu1169fs) GRCh37: Chr1:45288193 GRCh38: Chr1:44822521	PTCH2	L1169fs	Gorlin syndrome	Uncertain significance (Jun 17, 2022)	criteria provided, single submitter
Select item 147529521.	NM_003738.5(PTCH2):c.3506T>C (p.Leu1169Pro) GRCh37: Chr1:45288193 GRCh38: Chr1:44822521	PTCH2	L1169P	Gorlin syndrome	Uncertain significance (Nov 6, 2021)	criteria provided, single submitter
Select item 104894622.	NM_003738.5(PTCH2):c.3505del (p.Leu1169fs) GRCh37: Chr1:45288194 GRCh38: Chr1:44822522	PTCH2	L1169fs	Gorlin syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 115314223.	NM_003738.5(PTCH2):c.3504C>G (p.Pro1168=) GRCh37: Chr1:45288195 GRCh38: Chr1:44822523	PTCH2		Gorlin syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 45394024.	NM_003738.5(PTCH2):c.3504C>A (p.Pro1168=) GRCh37: Chr1:45288195 GRCh38: Chr1:44822523	PTCH2		Gorlin syndrome	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 57329225.	NM_003738.5(PTCH2):c.3500C>T (p.Pro1167Leu) GRCh37: Chr1:45288199 GRCh38: Chr1:44822527	PTCH2	P1167L	Gorlin syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 70174226.	NM_003738.5(PTCH2):c.3483C>G (p.Thr1161=) GRCh37: Chr1:45288216 GRCh38: Chr1:44822544	PTCH2		Gorlin syndrome	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 106281527.	NM_003738.5(PTCH2):c.3479T>C (p.Met1160Thr) GRCh37: Chr1:45288220 GRCh38: Chr1:44822548	PTCH2	M1160T	Gorlin syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 207489328.	NM_003738.5(PTCH2):c.3477C>T (p.Ser1159=) GRCh37: Chr1:45288222 GRCh38: Chr1:44822550	PTCH2		Gorlin syndrome	Likely benign (May 19, 2022)	criteria provided, single submitter
Select item 52452729.	NM_003738.5(PTCH2):c.3473C>G (p.Thr1158Ser) GRCh37: Chr1:45288226 GRCh38: Chr1:44822554	PTCH2	T1158S	Gorlin syndrome	Uncertain significance (Aug 30, 2021)	criteria provided, single submitter
Select item 70202030.	NM_003738.5(PTCH2):c.3471T>C (p.Thr1157=) GRCh37: Chr1:45288228 GRCh38: Chr1:44822556	PTCH2		not provided	Likely benign (Mar 30, 2018)	criteria provided, single submitter
Select item 215122431.	NM_003738.5(PTCH2):c.3468G>A (p.Val1156=) GRCh37: Chr1:45288231 GRCh38: Chr1:44822559	PTCH2		Gorlin syndrome	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 162157632.	NM_003738.5(PTCH2):c.3456C>T (p.Ser1152=) GRCh37: Chr1:45288243 GRCh38: Chr1:44822571	PTCH2		Gorlin syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 132706333.	NM_003738.5(PTCH2):c.3454A>G (p.Ser1152Gly) GRCh37: Chr1:45288245 GRCh38: Chr1:44822573	PTCH2	S1152G	Gorlin syndrome	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 109893734.	NM_003738.5(PTCH2):c.3453G>A (p.Gln1151=) GRCh37: Chr1:45288246 GRCh38: Chr1:44822574	PTCH2		Gorlin syndrome	Likely benign (May 28, 2021)	criteria provided, single submitter
Select item 169154535.	NM_003738.5(PTCH2):c.3431G>A (p.Gly1144Glu) GRCh37: Chr1:45288268 GRCh38: Chr1:44822596	PTCH2	G1144E	Gorlin syndrome	Uncertain significance (Dec 21, 2021)	criteria provided, single submitter
Select item 257790336.	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 144115637.	NM_003738.5(PTCH2):c.3427T>G (p.Trp1143Gly) GRCh37: Chr1:45288272 GRCh38: Chr1:44822600	PTCH2	W1143G	Gorlin syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 140096438.	NM_003738.5(PTCH2):c.3417C>T (p.Gly1139=) GRCh37: Chr1:45288282 GRCh38: Chr1:44822610	PTCH2		Gorlin syndrome	Likely benign (Mar 7, 2022)	criteria provided, single submitter
Select item 110359439.	NM_003738.5(PTCH2):c.3411G>A (p.Gln1137=) GRCh37: Chr1:45288288 GRCh38: Chr1:44822616	PTCH2		Gorlin syndrome	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 151424940.	NM_003738.5(PTCH2):c.3410A>G (p.Gln1137Arg) GRCh37: Chr1:45288289 GRCh38: Chr1:44822617	PTCH2	Q1137R	Gorlin syndrome	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 100431641.	NM_003738.5(PTCH2):c.3410A>C (p.Gln1137Pro) GRCh37: Chr1:45288289 GRCh38: Chr1:44822617	PTCH2	Q1137P	Gorlin syndrome	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 83954542.	NM_003738.5(PTCH2):c.3392T>C (p.Leu1131Pro) GRCh37: Chr1:45288307 GRCh38: Chr1:44822635	PTCH2	L1131P	Gorlin syndrome	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 216436043.	NM_003738.5(PTCH2):c.3382C>T (p.Pro1128Ser) GRCh37: Chr1:45288317 GRCh38: Chr1:44822645	PTCH2	P1128S	Gorlin syndrome	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 41545144.	NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) GRCh37: Chr1:45288336 GRCh38: Chr1:44822664	PTCH2	I1121M	Gorlin syndrome, Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Medulloblastoma, not provided	Benign/Likely benign (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 169791445.	NM_003738.5(PTCH2):c.3358G>A (p.Val1120Met) GRCh37: Chr1:45288341 GRCh38: Chr1:44822669	PTCH2	V1120M	not specified	Uncertain significance (Aug 15, 2023)	criteria provided, single submitter
Select item 113760946.	NM_003738.5(PTCH2):c.3358-4A>T GRCh37: Chr1:45288345 GRCh38: Chr1:44822673	PTCH2		Gorlin syndrome	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 158442747.	NM_003738.5(PTCH2):c.3358-11_3358-9dup GRCh37: Chr1:45288349-45288350 GRCh38: Chr1:44822677-44822678	PTCH2		Gorlin syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 161691448.	NM_003738.5(PTCH2):c.3358-14G>T GRCh37: Chr1:45288355 GRCh38: Chr1:44822683	PTCH2		Gorlin syndrome	Likely benign (Nov 13, 2021)	criteria provided, single submitter
Select item 131671449.	NM_003738.5(PTCH2):c.3358-140C>T GRCh37: Chr1:45288481 GRCh38: Chr1:44822809	PTCH2		not provided	Likely benign (Apr 16, 2019)	criteria provided, single submitter
Select item 131699950.	NM_003738.5(PTCH2):c.3358-151C>G GRCh37: Chr1:45288492 GRCh38: Chr1:44822820	PTCH2		not provided	Likely benign (Feb 28, 2019)	criteria provided, single submitter
Select item 124748151.	NM_003738.5(PTCH2):c.3358-186G>C GRCh37: Chr1:45288527 GRCh38: Chr1:44822855	PTCH2		not provided	Benign (Feb 7, 2019)	criteria provided, single submitter
Select item 155442752.	NM_003738.5(PTCH2):c.3357+16G>A GRCh37: Chr1:45288725 GRCh38: Chr1:44823053	PTCH2		Gorlin syndrome	Likely benign (Apr 26, 2021)	criteria provided, single submitter
Select item 165795053.	NM_003738.5(PTCH2):c.3357+15G>A GRCh37: Chr1:45288726 GRCh38: Chr1:44823054	PTCH2		Gorlin syndrome	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 152108154.	NM_003738.5(PTCH2):c.3357+14C>T GRCh37: Chr1:45288727 GRCh38: Chr1:44823055	PTCH2		Gorlin syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 71267255.	NM_003738.5(PTCH2):c.3357+8C>T GRCh37: Chr1:45288733 GRCh38: Chr1:44823061	PTCH2		Gorlin syndrome	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 614656.	NM_003738.5(PTCH2):c.3357+5C>T GRCh37: Chr1:45288736 GRCh38: Chr1:44823064	PTCH2		Basal cell carcinoma, somatic	Pathogenic (Feb 1, 1999)	no assertion criteria provided
Select item 171863357.	NM_003738.5(PTCH2):c.3352C>T (p.Pro1118Ser) GRCh37: Chr1:45288746 GRCh38: Chr1:44823074	PTCH2	P1118S	Gorlin syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 45393958.	NM_003738.5(PTCH2):c.3348G>A (p.Pro1116=) GRCh37: Chr1:45288750 GRCh38: Chr1:44823078	PTCH2		Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome	Likely benign (Jul 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 45393859.	NM_003738.5(PTCH2):c.3347C>T (p.Pro1116Leu) GRCh37: Chr1:45288751 GRCh38: Chr1:44823079	PTCH2	P1116L	Basal cell carcinoma, susceptibility to, 1, Gorlin syndrome, Medulloblastoma, Gorlin syndrome	Uncertain significance (Sep 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 115457360.	NM_003738.5(PTCH2):c.3345C>T (p.Gly1115=) GRCh37: Chr1:45288753 GRCh38: Chr1:44823081	PTCH2		Gorlin syndrome	Likely benign (Sep 15, 2020)	criteria provided, single submitter
Select item 162307361.	NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=) GRCh37: Chr1:45288758 GRCh38: Chr1:44823086	PTCH2		Gorlin syndrome	Benign (Oct 12, 2022)	criteria provided, single submitter
Select item 208506762.	NM_003738.5(PTCH2):c.3339C>A (p.Ile1113=) GRCh37: Chr1:45288759 GRCh38: Chr1:44823087	PTCH2		Gorlin syndrome	Likely benign (Apr 22, 2022)	criteria provided, single submitter
Select item 218542863.	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 105309064.	NM_003738.5(PTCH2):c.3314TGC[4] (p.Leu1107dup) GRCh37: Chr1:45288775-45288776 GRCh38: Chr1:44823103-44823104	PTCH2		Gorlin syndrome	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 219746565.	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 108919266.	NM_003738.5(PTCH2):c.3312C>G (p.Leu1104=) GRCh37: Chr1:45288786 GRCh38: Chr1:44823114	PTCH2		Gorlin syndrome	Likely benign (Feb 14, 2020)	criteria provided, single submitter
Select item 228951167.	NM_003738.5(PTCH2):c.3311T>C (p.Leu1104Pro) GRCh37: Chr1:45288787 GRCh38: Chr1:44823115	PTCH2	L1104P	Inborn genetic diseases	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 108481668.	NM_003738.5(PTCH2):c.3291C>G (p.Leu1097=) GRCh37: Chr1:45288807 GRCh38: Chr1:44823135	PTCH2		Gorlin syndrome	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 169153969.	NM_003738.5(PTCH2):c.3287C>T (p.Thr1096Met) GRCh37: Chr1:45288811 GRCh38: Chr1:44823139	PTCH2	T1096M	Gorlin syndrome	Uncertain significance (Jun 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 94694070.	NM_003738.5(PTCH2):c.3286dup (p.Thr1096fs) GRCh37: Chr1:45288811-45288812 GRCh38: Chr1:44823139-44823140	PTCH2	T1096fs	Gorlin syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 94950571.	NM_003738.5(PTCH2):c.3284T>C (p.Leu1095Pro) GRCh37: Chr1:45288814 GRCh38: Chr1:44823142	PTCH2	L1095P	Gorlin syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 66304472.	NM_003738.5(PTCH2):c.3280G>C (p.Val1094Leu) GRCh37: Chr1:45288818 GRCh38: Chr1:44823146	PTCH2	V1094L	Gorlin syndrome	Uncertain significance (Oct 21, 2022)	criteria provided, single submitter
Select item 191156673.	NM_003738.5(PTCH2):c.3272C>A (p.Ala1091Glu) GRCh37: Chr1:45288826 GRCh38: Chr1:44823154	PTCH2	A1091E	Gorlin syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 139737674.	NM_003738.5(PTCH2):c.3272C>T (p.Ala1091Val) GRCh37: Chr1:45288826 GRCh38: Chr1:44823154	PTCH2	A1091V	Gorlin syndrome	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 134967175.	NM_003738.5(PTCH2):c.3271G>A (p.Ala1091Thr) GRCh37: Chr1:45288827 GRCh38: Chr1:44823155	PTCH2	A1091T	Gorlin syndrome	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 138972076.	NM_003738.5(PTCH2):c.3270G>A (p.Ala1090=) GRCh37: Chr1:45288828 GRCh38: Chr1:44823156	PTCH2		Gorlin syndrome	Uncertain significance (Aug 13, 2021)	criteria provided, single submitter
Select item 108022377.	NM_003738.5(PTCH2):c.3270G>C (p.Ala1090=) GRCh37: Chr1:45288828 GRCh38: Chr1:44823156	PTCH2		Gorlin syndrome	Likely benign (Oct 9, 2021)	criteria provided, single submitter
Select item 45393778.	NM_003738.5(PTCH2):c.3269C>T (p.Ala1090Val) GRCh37: Chr1:45288829 GRCh38: Chr1:44823157	PTCH2	A1090V	Gorlin syndrome	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 104131179.	NM_003738.5(PTCH2):c.3263T>A (p.Phe1088Tyr) GRCh37: Chr1:45288835 GRCh38: Chr1:44823163	PTCH2	F1088Y	Gorlin syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 132710180.	NM_003738.5(PTCH2):c.3258G>C (p.Arg1086Ser) GRCh37: Chr1:45288840 GRCh38: Chr1:44823168	PTCH2	R1086S	Gorlin syndrome	Uncertain significance (Mar 4, 2021)	criteria provided, single submitter
Select item 96865581.	NM_003738.5(PTCH2):c.3258-5_3258-3delinsTAGTACCTAGG GRCh37: Chr1:45288843-45288845 GRCh38: Chr1:44823171-44823173	PTCH2		Gorlin syndrome	Uncertain significance (Sep 29, 2021)	criteria provided, single submitter
Select item 200408082.	NM_003738.5(PTCH2):c.3258-16del GRCh37: Chr1:45288856 GRCh38: Chr1:44823184	PTCH2		Gorlin syndrome	Benign (Apr 1, 2022)	criteria provided, single submitter
Select item 155228883.	NM_003738.5(PTCH2):c.3258-16C>G GRCh37: Chr1:45288856 GRCh38: Chr1:44823184	PTCH2		Gorlin syndrome	Likely benign (Mar 10, 2021)	criteria provided, single submitter
Select item 220219684.	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 160501185.	NM_003738.5(PTCH2):c.3258-19C>A GRCh37: Chr1:45288859 GRCh38: Chr1:44823187	PTCH2		Gorlin syndrome	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 193431486.	NM_003738.5(PTCH2):c.3257+15G>A GRCh37: Chr1:45288900 GRCh38: Chr1:44823228	PTCH2		Gorlin syndrome	Likely benign (Oct 8, 2022)	criteria provided, single submitter
Select item 162309187.	NM_003738.5(PTCH2):c.3257+14G>A GRCh37: Chr1:45288901 GRCh38: Chr1:44823229	PTCH2		Gorlin syndrome	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 156981588.	NM_003738.5(PTCH2):c.3257+13C>T GRCh37: Chr1:45288902 GRCh38: Chr1:44823230	PTCH2		Gorlin syndrome	Likely benign (Jun 2, 2022)	criteria provided, single submitter
Select item 52453189.	NM_003738.5(PTCH2):c.3257+3del GRCh37: Chr1:45288912 GRCh38: Chr1:44823240	PTCH2		Gorlin syndrome	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 152411190.	NM_003738.5(PTCH2):c.3257+1G>A GRCh37: Chr1:45288914 GRCh38: Chr1:44823242	PTCH2		Gorlin syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 229945291.	NM_003738.5(PTCH2):c.3251T>C (p.Ile1084Thr) GRCh37: Chr1:45288921 GRCh38: Chr1:44823249	PTCH2	I1084T	Inborn genetic diseases	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 197402692.	NM_003738.5(PTCH2):c.3246C>T (p.Asp1082=) GRCh37: Chr1:45288926 GRCh38: Chr1:44823254	PTCH2		Gorlin syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 100797993.	NM_003738.5(PTCH2):c.3233G>T (p.Gly1078Val) GRCh37: Chr1:45288939 GRCh38: Chr1:44823267	PTCH2	G1078V	Gorlin syndrome	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 41546494.	NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=) GRCh37: Chr1:45288956 GRCh38: Chr1:44823284	PTCH2		Gorlin syndrome	Benign (Oct 30, 2022)	criteria provided, single submitter
Select item 94686395.	NM_003738.5(PTCH2):c.3210G>C (p.Leu1070Phe) GRCh37: Chr1:45288962 GRCh38: Chr1:44823290	PTCH2	L1070F	Gorlin syndrome, not specified, Inborn genetic diseases	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65820196.	NM_003738.5(PTCH2):c.3190G>A (p.Asp1064Asn) GRCh37: Chr1:45288982 GRCh38: Chr1:44823310	PTCH2	D1064N	Gorlin syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 45393697.	NM_003738.5(PTCH2):c.3189C>T (p.Thr1063=) GRCh37: Chr1:45288983 GRCh38: Chr1:44823311	PTCH2		Gorlin syndrome, not provided	Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93157898.	NM_003738.5(PTCH2):c.3185T>G (p.Val1062Gly) GRCh37: Chr1:45288987 GRCh38: Chr1:44823315	PTCH2	V1062G	Basal cell carcinoma, susceptibility to, 1	Uncertain significance (Sep 11, 2019)	criteria provided, single submitter
Select item 52461199.	NM_003738.5(PTCH2):c.3184G>A (p.Val1062Met) GRCh37: Chr1:45288988 GRCh38: Chr1:44823316	PTCH2	V1062M	Gorlin syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 806130100.	NM_003738.5(PTCH2):c.3183C>T (p.Pro1061=) GRCh37: Chr1:45288989 GRCh38: Chr1:44823317	PTCH2		Gorlin syndrome, not provided	Likely benign (Jul 1, 2023)	criteria provided, multiple submitters, no conflicts

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