ClinVar for MedGen (Select 356049) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25811001.	NM_024665.7(TBL1XR1):c.420dup (p.Ile141fs) GRCh37: Chr3:176769298-176769299 GRCh38: Chr3:177051510-177051511	TBL1XR1	I141fs, I54fs	Intellectual disability, autosomal dominant 41, Pierpont syndrome	Pathogenic	criteria provided, single submitter
Select item 25783842.	GRCh37/hg19 3q26.32(chr3:176755939-176756243)x1 GRCh37: Chr3:176755939-176756243	TBL1XR1		Pierpont syndrome, Intellectual disability, autosomal dominant 41	not provided	no assertion provided
Select item 25002673.	NM_024665.7(TBL1XR1):c.1047+1G>C GRCh37: Chr3:176756100 GRCh38: Chr3:177038312	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Pathogenic	no assertion criteria provided
Select item 24419904.	NM_024665.7(TBL1XR1):c.956ACA[1] (p.Asn320del) GRCh37: Chr3:176756187-176756189 GRCh38: Chr3:177038399-177038401	LOC126806878, TBL1XR1, TBL1XR1-AS1	N233del, N320del	Pierpont syndrome	Uncertain significance (May 9, 2021)	criteria provided, single submitter
Select item 24217615.	NM_024665.7(TBL1XR1):c.428-19C>T GRCh37: Chr3:176768417 GRCh38: Chr3:177050629	TBL1XR1		Pierpont syndrome	Likely benign (Apr 26, 2022)	criteria provided, single submitter
Select item 24209836.	NM_024665.7(TBL1XR1):c.1416+20A>G GRCh37: Chr3:176750739 GRCh38: Chr3:177032951	TBL1XR1		Pierpont syndrome	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 24196457.	NM_024665.7(TBL1XR1):c.1150G>T (p.Val384Phe) GRCh37: Chr3:176752086 GRCh38: Chr3:177034298	TBL1XR1	V297F, V384F	not provided, Pierpont syndrome	Uncertain significance (Jun 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 24148118.	NM_024665.7(TBL1XR1):c.1425T>C (p.Ala475=) GRCh37: Chr3:176744254 GRCh38: Chr3:177026466	TBL1XR1		Pierpont syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 24138679.	NM_024665.7(TBL1XR1):c.926-4G>T GRCh37: Chr3:176756226 GRCh38: Chr3:177038438	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 220179210.	NM_024665.7(TBL1XR1):c.138C>G (p.Pro46=) GRCh37: Chr3:176771627 GRCh38: Chr3:177053839	TBL1XR1		Pierpont syndrome	Likely benign (May 24, 2022)	criteria provided, single submitter
Select item 220061211.	NM_024665.7(TBL1XR1):c.355A>G (p.Ser119Gly) GRCh37: Chr3:176769364 GRCh38: Chr3:177051576	TBL1XR1	S119G, S32G	Pierpont syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219615012.	NM_024665.7(TBL1XR1):c.75A>G (p.Ala25=) GRCh37: Chr3:176771690 GRCh38: Chr3:177053902	TBL1XR1		Pierpont syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 219397813.	NM_024665.7(TBL1XR1):c.549C>G (p.Leu183=) GRCh37: Chr3:176768277 GRCh38: Chr3:177050489	TBL1XR1		Pierpont syndrome	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 218479814.	NM_024665.7(TBL1XR1):c.846A>G (p.Leu282=) GRCh37: Chr3:176765106 GRCh38: Chr3:177047318	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 218010415.	NM_024665.7(TBL1XR1):c.767-23_767-18del GRCh37: Chr3:176765203-176765208 GRCh38: Chr3:177047415-177047420	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 217933216.	NM_024665.7(TBL1XR1):c.1344A>G (p.Val448=) GRCh37: Chr3:176750831 GRCh38: Chr3:177033043	TBL1XR1		Pierpont syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216583517.	NM_024665.7(TBL1XR1):c.459G>A (p.Gly153=) GRCh37: Chr3:176768367 GRCh38: Chr3:177050579	TBL1XR1		Pierpont syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 216091718.	NM_024665.7(TBL1XR1):c.1047+5G>T GRCh37: Chr3:176756096 GRCh38: Chr3:177038308	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 215930519.	NM_024665.7(TBL1XR1):c.351A>T (p.Ala117=) GRCh37: Chr3:176769368 GRCh38: Chr3:177051580	TBL1XR1		Pierpont syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 215134520.	NM_024665.7(TBL1XR1):c.619A>G (p.Thr207Ala) GRCh37: Chr3:176767868 GRCh38: Chr3:177050080	TBL1XR1	T120A, T207A	Pierpont syndrome	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 215090821.	NM_024665.7(TBL1XR1):c.249G>C (p.Leu83=) GRCh37: Chr3:176769470 GRCh38: Chr3:177051682	TBL1XR1		Pierpont syndrome	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 213376422.	NM_024665.7(TBL1XR1):c.1171A>G (p.Asn391Asp) GRCh37: Chr3:176752065 GRCh38: Chr3:177034277	TBL1XR1	N391D, N304D	Pierpont syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 213321723.	NM_024665.7(TBL1XR1):c.307C>G (p.Leu103Val) GRCh37: Chr3:176769412 GRCh38: Chr3:177051624	TBL1XR1	L16V, L103V	Pierpont syndrome	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213219824.	NM_024665.7(TBL1XR1):c.766+13T>C GRCh37: Chr3:176765261 GRCh38: Chr3:177047473	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 212496325.	NM_024665.7(TBL1XR1):c.704G>A (p.Ser235Asn) GRCh37: Chr3:176765336 GRCh38: Chr3:177047548	TBL1XR1-AS1, TBL1XR1	S148N, S235N	Pierpont syndrome	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212465726.	NM_024665.7(TBL1XR1):c.766+9A>G GRCh37: Chr3:176765265 GRCh38: Chr3:177047477	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 211846027.	NM_024665.7(TBL1XR1):c.1240A>C (p.Met414Leu) GRCh37: Chr3:176751996 GRCh38: Chr3:177034208	TBL1XR1	M414L, M327L	Pierpont syndrome	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 211540128.	NM_024665.7(TBL1XR1):c.1290C>A (p.Asp430Glu) GRCh37: Chr3:176750885 GRCh38: Chr3:177033097	TBL1XR1	D343E, D430E	Pierpont syndrome	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211438629.	NM_024665.7(TBL1XR1):c.767-9G>A GRCh37: Chr3:176765194 GRCh38: Chr3:177047406	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 211002030.	NM_024665.7(TBL1XR1):c.1527A>T (p.Val509=) GRCh37: Chr3:176743304 GRCh38: Chr3:177025516	TBL1XR1		Pierpont syndrome	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210613031.	NM_024665.7(TBL1XR1):c.1417A>G (p.Thr473Ala) GRCh37: Chr3:176744262 GRCh38: Chr3:177026474	TBL1XR1	T473A, T386A	Pierpont syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210577832.	NM_024665.7(TBL1XR1):c.724A>G (p.Thr242Ala) GRCh37: Chr3:176765316 GRCh38: Chr3:177047528	TBL1XR1, TBL1XR1-AS1	T242A, T155A	Pierpont syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210577033.	NM_024665.7(TBL1XR1):c.818A>G (p.Lys273Arg) GRCh37: Chr3:176765134 GRCh38: Chr3:177047346	TBL1XR1-AS1, TBL1XR1	K186R, K273R	Pierpont syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 210355634.	NM_024665.7(TBL1XR1):c.186A>G (p.Ala62=) GRCh37: Chr3:176771579 GRCh38: Chr3:177053791	TBL1XR1		Pierpont syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 210100935.	NM_024665.7(TBL1XR1):c.827A>G (p.Lys276Arg) GRCh37: Chr3:176765125 GRCh38: Chr3:177047337	TBL1XR1, TBL1XR1-AS1	K276R, K189R	Pierpont syndrome	Uncertain significance (Feb 21, 2022)	criteria provided, single submitter
Select item 209897736.	NM_024665.7(TBL1XR1):c.561-5dup GRCh37: Chr3:176767930-176767931 GRCh38: Chr3:177050142-177050143	TBL1XR1		Pierpont syndrome	Benign (Feb 18, 2022)	criteria provided, single submitter
Select item 208837637.	NM_024665.7(TBL1XR1):c.1122+12A>G GRCh37: Chr3:176755874 GRCh38: Chr3:177038086	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 208516538.	NM_024665.7(TBL1XR1):c.702+17C>T GRCh37: Chr3:176767768 GRCh38: Chr3:177049980	TBL1XR1		Pierpont syndrome	Likely benign (Apr 29, 2022)	criteria provided, single submitter
Select item 208107939.	NM_024665.7(TBL1XR1):c.1085A>G (p.Asn362Ser) GRCh37: Chr3:176755923 GRCh38: Chr3:177038135	LOC126806878, TBL1XR1, TBL1XR1-AS1	N275S, N362S	Pierpont syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 207845640.	NM_024665.7(TBL1XR1):c.864+7del GRCh37: Chr3:176765081 GRCh38: Chr3:177047293	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 207716441.	NM_024665.7(TBL1XR1):c.1219A>G (p.Asn407Asp) GRCh37: Chr3:176752017 GRCh38: Chr3:177034229	TBL1XR1	N407D, N320D	Pierpont syndrome	Uncertain significance (Aug 15, 2022)	criteria provided, single submitter
Select item 207510842.	NM_024665.7(TBL1XR1):c.1107C>T (p.Asp369=) GRCh37: Chr3:176755901 GRCh38: Chr3:177038113	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 206138043.	NM_024665.7(TBL1XR1):c.1537C>T (p.Arg513Trp) GRCh37: Chr3:176743294 GRCh38: Chr3:177025506	TBL1XR1	R426W, R513W	Pierpont syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 204335844.	NM_024665.7(TBL1XR1):c.1518+20T>C GRCh37: Chr3:176744141 GRCh38: Chr3:177026353	TBL1XR1		Pierpont syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 203570645.	NM_024665.7(TBL1XR1):c.925+12A>T GRCh37: Chr3:176763905 GRCh38: Chr3:177046117	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Oct 15, 2022)	criteria provided, single submitter
Select item 203545946.	NM_024665.7(TBL1XR1):c.1417-10A>G GRCh37: Chr3:176744272 GRCh38: Chr3:177026484	TBL1XR1		Pierpont syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 203414047.	NM_024665.7(TBL1XR1):c.703-4G>A GRCh37: Chr3:176765341 GRCh38: Chr3:177047553	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203129648.	NM_024665.7(TBL1XR1):c.1449A>G (p.Thr483=) GRCh37: Chr3:176744230 GRCh38: Chr3:177026442	TBL1XR1		Pierpont syndrome	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 202961049.	NM_024665.7(TBL1XR1):c.560+17G>C GRCh37: Chr3:176768249 GRCh38: Chr3:177050461	TBL1XR1		Pierpont syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 202407950.	NM_024665.7(TBL1XR1):c.864+1G>A GRCh37: Chr3:176765087 GRCh38: Chr3:177047299	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely pathogenic (Aug 13, 2022)	criteria provided, single submitter
Select item 201300351.	NM_024665.7(TBL1XR1):c.1047G>T (p.Thr349=) GRCh37: Chr3:176756101 GRCh38: Chr3:177038313	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Uncertain significance (Jul 7, 2022)	criteria provided, single submitter
Select item 201053552.	NM_024665.7(TBL1XR1):c.205-9C>T GRCh37: Chr3:176769523 GRCh38: Chr3:177051735	TBL1XR1		Pierpont syndrome	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 201032453.	NM_024665.7(TBL1XR1):c.865-6T>A GRCh37: Chr3:176763983 GRCh38: Chr3:177046195	TBL1XR1-AS1, TBL1XR1		Pierpont syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 200539454.	NM_024665.7(TBL1XR1):c.560+15G>T GRCh37: Chr3:176768251 GRCh38: Chr3:177050463	TBL1XR1		Pierpont syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 198975355.	NM_024665.7(TBL1XR1):c.703-10del GRCh37: Chr3:176765347 GRCh38: Chr3:177047559	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Benign (Mar 2, 2022)	criteria provided, single submitter
Select item 198022556.	NM_024665.7(TBL1XR1):c.906A>G (p.Gln302=) GRCh37: Chr3:176763936 GRCh38: Chr3:177046148	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 197958957.	NM_024665.7(TBL1XR1):c.1250+17A>G GRCh37: Chr3:176751969 GRCh38: Chr3:177034181	TBL1XR1		Pierpont syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 197918458.	NM_024665.7(TBL1XR1):c.714A>C (p.Thr238=) GRCh37: Chr3:176765326 GRCh38: Chr3:177047538	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 197918359.	NM_024665.7(TBL1XR1):c.1512T>C (p.Asp504=) GRCh37: Chr3:176744167 GRCh38: Chr3:177026379	TBL1XR1		Pierpont syndrome	Likely benign (Jul 24, 2022)	criteria provided, single submitter
Select item 197666960.	NM_024665.7(TBL1XR1):c.333T>C (p.Ala111=) GRCh37: Chr3:176769386 GRCh38: Chr3:177051598	TBL1XR1		Pierpont syndrome	Likely benign (Oct 12, 2022)	criteria provided, single submitter
Select item 197322761.	NM_024665.7(TBL1XR1):c.58+14dup GRCh37: Chr3:176782693-176782694 GRCh38: Chr3:177064905-177064906	TBL1XR1		Pierpont syndrome	Likely benign (May 23, 2022)	criteria provided, single submitter
Select item 197139162.	NM_024665.7(TBL1XR1):c.1364G>A (p.Arg455Lys) GRCh37: Chr3:176750811 GRCh38: Chr3:177033023	TBL1XR1	R368K, R455K	Pierpont syndrome	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 196427663.	NM_024665.7(TBL1XR1):c.1251-9C>T GRCh37: Chr3:176750933 GRCh38: Chr3:177033145	TBL1XR1		Pierpont syndrome	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 196278364.	NM_024665.7(TBL1XR1):c.1122+16G>A GRCh37: Chr3:176755870 GRCh38: Chr3:177038082	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 196045665.	NM_024665.7(TBL1XR1):c.258C>T (p.Ala86=) GRCh37: Chr3:176769461 GRCh38: Chr3:177051673	TBL1XR1		Pierpont syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 195931966.	NM_024665.7(TBL1XR1):c.59-22_59-19del GRCh37: Chr3:176771725-176771728 GRCh38: Chr3:177053937-177053940	TBL1XR1		Pierpont syndrome	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 192935567.	NM_024665.7(TBL1XR1):c.977G>A (p.Ser326Asn) GRCh37: Chr3:176756171 GRCh38: Chr3:177038383	LOC126806878, TBL1XR1, TBL1XR1-AS1	S239N, S326N	Pierpont syndrome	Uncertain significance (Sep 22, 2022)	criteria provided, single submitter
Select item 192657368.	NM_024665.7(TBL1XR1):c.718C>T (p.Leu240=) GRCh37: Chr3:176765322 GRCh38: Chr3:177047534	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Apr 15, 2022)	criteria provided, single submitter
Select item 192536269.	NM_024665.7(TBL1XR1):c.766+7G>A GRCh37: Chr3:176765267 GRCh38: Chr3:177047479	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (May 12, 2022)	criteria provided, single submitter
Select item 190786070.	NM_024665.7(TBL1XR1):c.1250+13T>C GRCh37: Chr3:176751973 GRCh38: Chr3:177034185	TBL1XR1		Pierpont syndrome	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 190276171.	NM_024665.7(TBL1XR1):c.350C>T (p.Ala117Val) GRCh37: Chr3:176769369 GRCh38: Chr3:177051581	TBL1XR1	A30V, A117V	Pierpont syndrome	Uncertain significance (May 22, 2022)	criteria provided, single submitter
Select item 189569172.	NM_024665.7(TBL1XR1):c.204+15T>C GRCh37: Chr3:176771546 GRCh38: Chr3:177053758	TBL1XR1		Pierpont syndrome	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 172115873.	NM_024665.7(TBL1XR1):c.241C>G (p.Leu81Val) GRCh37: Chr3:176769478 GRCh38: Chr3:177051690	TBL1XR1	L81V	Pierpont syndrome	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 171409674.	NM_024665.7(TBL1XR1):c.1225C>A (p.Pro409Thr) GRCh37: Chr3:176752011 GRCh38: Chr3:177034223	TBL1XR1	P322T, P409T	Pierpont syndrome	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 171035775.	NM_024665.7(TBL1XR1):c.64dup (p.Ser22fs) GRCh37: Chr3:176771700-176771701 GRCh38: Chr3:177053912-177053913	TBL1XR1	S22fs	Pierpont syndrome	Pathogenic (Aug 17, 2022)	criteria provided, single submitter
Select item 170849276.	NM_024665.7(TBL1XR1):c.937G>A (p.Asp313Asn) GRCh37: Chr3:176756211 GRCh38: Chr3:177038423	LOC126806878, TBL1XR1, TBL1XR1-AS1	D226N, D313N	Pierpont syndrome, Intellectual disability, autosomal dominant 41	Likely pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 169850977.	NM_024665.7(TBL1XR1):c.356G>C (p.Ser119Thr) GRCh37: Chr3:176769363 GRCh38: Chr3:177051575	TBL1XR1	S119T, S32T	Pierpont syndrome, not specified	Uncertain significance (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 168624978.	NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn) GRCh37: Chr3:176750835 GRCh38: Chr3:177033047	TBL1XR1	S360N, S447N	Pierpont syndrome	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167867879.	NM_024665.7(TBL1XR1):c.119A>G (p.Asn40Ser) GRCh37: Chr3:176771646 GRCh38: Chr3:177053858	TBL1XR1	N40S	Pierpont syndrome, not provided	Uncertain significance (Apr 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 167300580.	NM_024665.7(TBL1XR1):c.59-15_59-14del GRCh37: Chr3:176771720-176771721 GRCh38: Chr3:177053932-177053933	TBL1XR1		Pierpont syndrome	Likely benign (Jul 18, 2021)	criteria provided, single submitter
Select item 167035081.	NM_024665.7(TBL1XR1):c.402G>A (p.Glu134=) GRCh37: Chr3:176769317 GRCh38: Chr3:177051529	TBL1XR1		Pierpont syndrome	Likely benign (Aug 18, 2021)	criteria provided, single submitter
Select item 166813182.	NM_024665.7(TBL1XR1):c.428-7G>T GRCh37: Chr3:176768405 GRCh38: Chr3:177050617	TBL1XR1		Pierpont syndrome	Likely benign (Mar 7, 2021)	criteria provided, single submitter
Select item 166457983.	NM_024665.7(TBL1XR1):c.702+12T>C GRCh37: Chr3:176767773 GRCh38: Chr3:177049985	TBL1XR1		Pierpont syndrome	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 166286284.	NM_024665.7(TBL1XR1):c.204+9G>A GRCh37: Chr3:176771552 GRCh38: Chr3:177053764	TBL1XR1		Pierpont syndrome	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 165914785.	NM_024665.7(TBL1XR1):c.58+8C>T GRCh37: Chr3:176782700 GRCh38: Chr3:177064912	TBL1XR1		Pierpont syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 164277586.	NM_024665.7(TBL1XR1):c.396T>C (p.Asn132=) GRCh37: Chr3:176769323 GRCh38: Chr3:177051535	TBL1XR1		Pierpont syndrome	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 163758987.	NM_024665.7(TBL1XR1):c.1251-10_1251-7del GRCh37: Chr3:176750931-176750934 GRCh38: Chr3:177033143-177033146	TBL1XR1		Pierpont syndrome	Likely benign (Dec 6, 2020)	criteria provided, single submitter
Select item 163740888.	NM_024665.7(TBL1XR1):c.925+13T>C GRCh37: Chr3:176763904 GRCh38: Chr3:177046116	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 163391889.	NM_024665.7(TBL1XR1):c.1251-11T>A GRCh37: Chr3:176750935 GRCh38: Chr3:177033147	TBL1XR1		Pierpont syndrome	Likely benign (Feb 15, 2021)	criteria provided, single submitter
Select item 163267090.	NM_024665.7(TBL1XR1):c.1506A>G (p.Ala502=) GRCh37: Chr3:176744173 GRCh38: Chr3:177026385	TBL1XR1		Pierpont syndrome	Likely benign (Jul 31, 2021)	criteria provided, single submitter
Select item 162649491.	NM_024665.7(TBL1XR1):c.216G>A (p.Leu72=) GRCh37: Chr3:176769503 GRCh38: Chr3:177051715	TBL1XR1		Pierpont syndrome	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 162460092.	NM_024665.7(TBL1XR1):c.926-20T>C GRCh37: Chr3:176756242 GRCh38: Chr3:177038454	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Jan 9, 2021)	criteria provided, single submitter
Select item 162205693.	NM_024665.7(TBL1XR1):c.865-13_865-8del GRCh37: Chr3:176763985-176763990 GRCh38: Chr3:177046197-177046202	TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 161759794.	NM_024665.7(TBL1XR1):c.558A>G (p.Ser186=) GRCh37: Chr3:176768268 GRCh38: Chr3:177050480	TBL1XR1		Pierpont syndrome	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 161312195.	NM_024665.7(TBL1XR1):c.561-15T>C GRCh37: Chr3:176767941 GRCh38: Chr3:177050153	TBL1XR1		Pierpont syndrome	Likely benign (Oct 25, 2021)	criteria provided, single submitter
Select item 161088296.	NM_024665.7(TBL1XR1):c.1251-15T>C GRCh37: Chr3:176750939 GRCh38: Chr3:177033151	TBL1XR1		Pierpont syndrome	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 160948097.	NM_024665.7(TBL1XR1):c.1122+15A>T GRCh37: Chr3:176755871 GRCh38: Chr3:177038083	LOC126806878, TBL1XR1, TBL1XR1-AS1		Pierpont syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 160806498.	NM_024665.7(TBL1XR1):c.657G>A (p.Gly219=) GRCh37: Chr3:176767830 GRCh38: Chr3:177050042	TBL1XR1		Pierpont syndrome	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 160645599.	NM_024665.7(TBL1XR1):c.204+20A>G GRCh37: Chr3:176771541 GRCh38: Chr3:177053753	TBL1XR1		Pierpont syndrome	Likely benign (May 17, 2022)	criteria provided, single submitter
Select item 1605089100.	NM_024665.7(TBL1XR1):c.1539G>C (p.Arg513=) GRCh37: Chr3:176743292 GRCh38: Chr3:177025504	TBL1XR1		Pierpont syndrome	Likely benign (Sep 16, 2021)	criteria provided, single submitter

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