ClinVar for MedGen (Select 208678) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25002861.	NM_015338.6(ASXL1):c.2558del (p.Pro853fs) GRCh37: Chr20:31023072 GRCh38: Chr20:32435269	ASXL1	P792fs, P853fs	Bohring-Opitz syndrome	Likely pathogenic (Mar 23, 2023)	criteria provided, single submitter
Select item 25002802.	NM_015338.6(ASXL1):c.4254_4260delinsCTCAC (p.Lys1419fs) GRCh37: Chr20:31024769-31024775 GRCh38: Chr20:32436966-32436972	ASXL1	K1358fs, K1419fs	Bohring-Opitz syndrome	Pathogenic (Sep 10, 2022)	criteria provided, single submitter
Select item 24995753.	NM_015338.6(ASXL1):c.1368_1371del (p.Asp457fs) GRCh37: Chr20:31021366-31021369 GRCh38: Chr20:32433563-32433566	ASXL1	D396fs, D457fs	Bohring-Opitz syndrome	Pathogenic (Apr 20, 2023)	criteria provided, single submitter
Select item 24392744.	NM_015338.6(ASXL1):c.1073A>G (p.Tyr358Cys) GRCh37: Chr20:31020776 GRCh38: Chr20:32432973	ASXL1	Y297C, Y358C	Bohring-Opitz syndrome	Uncertain significance (Aug 22, 2019)	criteria provided, single submitter
Select item 24392735.	NM_015338.6(ASXL1):c.3506C>T (p.Ser1169Phe) GRCh37: Chr20:31024021 GRCh38: Chr20:32436218	ASXL1	S1108F, S1169F	Bohring-Opitz syndrome	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 24392726.	NM_015338.6(ASXL1):c.4150A>G (p.Asn1384Asp) GRCh37: Chr20:31024665 GRCh38: Chr20:32436862	ASXL1	N1323D, N1384D	Bohring-Opitz syndrome	Uncertain significance (May 13, 2020)	criteria provided, single submitter
Select item 24392717.	NM_015338.6(ASXL1):c.4204A>G (p.Met1402Val) GRCh37: Chr20:31024719 GRCh38: Chr20:32436916	ASXL1	M1341V, M1402V	Bohring-Opitz syndrome	Uncertain significance (Nov 2, 2020)	criteria provided, single submitter
Select item 24392708.	NM_015338.6(ASXL1):c.3847G>A (p.Gly1283Ser) GRCh37: Chr20:31024362 GRCh38: Chr20:32436559	ASXL1	G1222S, G1283S	Bohring-Opitz syndrome	Uncertain significance (Mar 3, 2022)	criteria provided, single submitter
Select item 24392699.	NM_015338.6(ASXL1):c.2171T>C (p.Leu724Pro) GRCh37: Chr20:31022686 GRCh38: Chr20:32434883	ASXL1	L663P, L724P	Bohring-Opitz syndrome	Uncertain significance (Nov 13, 2020)	criteria provided, single submitter
Select item 231680810.	NM_015338.6(ASXL1):c.2878T>G (p.Trp960Gly) GRCh37: Chr20:31023393 GRCh38: Chr20:32435590	ASXL1	W960G, W899G	Bohring-Opitz syndrome, Inborn genetic diseases	Uncertain significance (Oct 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 196095111.	NM_015338.6(ASXL1):c.4046T>C (p.Val1349Ala) GRCh37: Chr20:31024561 GRCh38: Chr20:32436758	ASXL1	V1288A, V1349A	not provided, Bohring-Opitz syndrome	Uncertain significance (Jul 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180595812.	NM_015338.6(ASXL1):c.4136A>C (p.Lys1379Thr) GRCh37: Chr20:31024651 GRCh38: Chr20:32436848	ASXL1	K1318T, K1379T	Bohring-Opitz syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 180513613.	NM_015338.6(ASXL1):c.2309C>T (p.Ser770Leu) GRCh37: Chr20:31022824 GRCh38: Chr20:32435021	ASXL1	S709L, S770L	Bohring-Opitz syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 180398014.	NM_015338.6(ASXL1):c.3942_3957del (p.Gln1315fs) GRCh37: Chr20:31024454-31024469 GRCh38: Chr20:32436651-32436666	ASXL1	Q1254fs, Q1315fs	Bohring-Opitz syndrome	Pathogenic (Nov 10, 2020)	criteria provided, single submitter
Select item 172700215.	NM_015338.6(ASXL1):c.1436_1437del (p.Pro479fs) GRCh37: Chr20:31021436-31021437 GRCh38: Chr20:32433633-32433634	ASXL1	P418fs, P479fs	Bohring-Opitz syndrome	Pathogenic	no assertion criteria provided
Select item 170943016.	NM_015338.6(ASXL1):c.3565G>A (p.Ala1189Thr) GRCh37: Chr20:31024080 GRCh38: Chr20:32436277	ASXL1	A1128T, A1189T	Bohring-Opitz syndrome	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 170809317.	NM_015338.6(ASXL1):c.1698G>C (p.Glu566Asp) GRCh37: Chr20:31021699 GRCh38: Chr20:32433896	ASXL1	E505D, E566D	Bohring-Opitz syndrome	Likely benign (Mar 3, 2022)	criteria provided, single submitter
Select item 170571018.	NM_015338.6(ASXL1):c.3677_3678del (p.Leu1226fs) GRCh37: Chr20:31024192-31024193 GRCh38: Chr20:32436389-32436390	ASXL1	L1165fs, L1226fs	Bohring-Opitz syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170176019.	NM_015338.6(ASXL1):c.2029C>T (p.Pro677Ser) GRCh37: Chr20:31022544 GRCh38: Chr20:32434741	ASXL1	P616S, P677S	Bohring-Opitz syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 170174620.	NM_015338.6(ASXL1):c.4624_4626TAA[1] (p.Ter1542_Ter(1542_?)(?)) GRCh37: Chr20:31025138-31025140 GRCh38: Chr20:32437335-32437337	ASXL1		Bohring-Opitz syndrome	Uncertain significance (Aug 12, 2021)	criteria provided, single submitter
Select item 170108521.	NM_015338.6(ASXL1):c.1720A>G (p.Ile574Val) GRCh37: Chr20:31022235 GRCh38: Chr20:32434432	ASXL1	I513V, I574V	Bohring-Opitz syndrome	Pathogenic (Aug 16, 2022)	no assertion criteria provided
Select item 169948222.	NM_015338.6(ASXL1):c.1693G>C (p.Glu565Gln) GRCh37: Chr20:31021694 GRCh38: Chr20:32433891	ASXL1	E504Q, E565Q	Bohring-Opitz syndrome	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 169912823.	NM_015338.6(ASXL1):c.1610A>G (p.Glu537Gly) GRCh37: Chr20:31021611 GRCh38: Chr20:32433808	ASXL1	E476G, E537G	Bohring-Opitz syndrome	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 169847924.	NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer) GRCh37: Chr20:31022838 GRCh38: Chr20:32435035	ASXL1		Bohring-Opitz syndrome	Likely pathogenic (Jun 4, 2022)	criteria provided, single submitter
Select item 167978025.	NM_015338.6(ASXL1):c.3915T>G (p.Phe1305Leu) GRCh37: Chr20:31024430 GRCh38: Chr20:32436627	ASXL1	F1244L, F1305L	Bohring-Opitz syndrome	Uncertain significance (Apr 16, 2021)	criteria provided, single submitter
Select item 167510026.	NM_015338.6(ASXL1):c.3302T>A (p.Val1101Glu) GRCh37: Chr20:31023817 GRCh38: Chr20:32436014	ASXL1	V1040E, V1101E	Bohring-Opitz syndrome, Myelodysplastic syndrome	Uncertain significance (Jul 13, 2021)	criteria provided, single submitter
Select item 166772927.	NM_015338.6(ASXL1):c.3621C>G (p.Val1207=) GRCh37: Chr20:31024136 GRCh38: Chr20:32436333	ASXL1		Bohring-Opitz syndrome, Myelodysplastic syndrome, not provided	Likely benign (Sep 19, 2021)	criteria provided, multiple submitters, no conflicts
Select item 155331028.	NM_015338.6(ASXL1):c.1928G>C (p.Gly643Ala) GRCh37: Chr20:31022443 GRCh38: Chr20:32434640	ASXL1	G582A, G643A	not provided, Bohring-Opitz syndrome	Conflicting interpretations of pathogenicity (Feb 9, 2022)	criteria provided, conflicting interpretations
Select item 134367029.	NM_015338.6(ASXL1):c.1751dup (p.Val585fs) GRCh37: Chr20:31022265-31022266 GRCh38: Chr20:32434462-32434463	ASXL1	V524fs, V585fs	Bohring-Opitz syndrome	Likely pathogenic (Feb 5, 2022)	criteria provided, single submitter
Select item 133467330.	NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) GRCh37: Chr20:31020718 GRCh38: Chr20:32432915	ASXL1	Q278, Q339	Bohring-Opitz syndrome	Likely pathogenic (Nov 24, 2021)	criteria provided, single submitter
Select item 130280931.	NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) GRCh37: Chr20:31024858 GRCh38: Chr20:32437055	ASXL1	Q1387R, Q1448R	Bohring-Opitz syndrome, not provided	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 129664132.	NM_015338.6(ASXL1):c.*22A>G GRCh37: Chr20:31025163 GRCh38: Chr20:32437360	ASXL1		not provided, Bohring-Opitz syndrome	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 129068733.	NM_015338.6(ASXL1):c.140+26A>G GRCh37: Chr20:30954295 GRCh38: Chr20:32366492	ASXL1		Bohring-Opitz syndrome, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 128337734.	NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) GRCh37: Chr20:31023750 GRCh38: Chr20:32435947	ASXL1	S1018P, S1079P	Inborn genetic diseases, not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 127259735.	NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn) GRCh37: Chr20:31021521 GRCh38: Chr20:32433718	ASXL1	I446N, I507N	not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 126831636.	NM_015338.6(ASXL1):c.*90T>C GRCh37: Chr20:31025231 GRCh38: Chr20:32437428	ASXL1		not provided, Bohring-Opitz syndrome	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 126034637.	NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) GRCh37: Chr20:31024480 GRCh38: Chr20:32436677	ASXL1	P1322R, P1261R	not provided, Inborn genetic diseases, Bohring-Opitz syndrome	Benign/Likely benign (Jul 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 120860538.	NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) GRCh37: Chr20:31023108 GRCh38: Chr20:32435305	ASXL1	E804K, E865K	not provided, Inborn genetic diseases, Bohring-Opitz syndrome	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119233439.	NM_015338.6(ASXL1):c.719-100C>T GRCh37: Chr20:31019024 GRCh38: Chr20:32431221	ASXL1		Bohring-Opitz syndrome, not provided	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118883240.	NM_015338.6(ASXL1):c.2759_2762dup (p.Val922fs) GRCh37: Chr20:31023272-31023273 GRCh38: Chr20:32435469-32435470	ASXL1	V861fs, V922fs	Bohring-Opitz syndrome	Pathogenic (Feb 14, 2020)	no assertion criteria provided
Select item 118086841.	NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) GRCh37: Chr20:31022737 GRCh38: Chr20:32434934	ASXL1	D680V, D741V	Bohring-Opitz syndrome, not provided	Benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117449342.	NM_015338.6(ASXL1):c.1719+1G>A GRCh37: Chr20:31021721 GRCh38: Chr20:32433918	ASXL1		Bohring-Opitz syndrome	Pathogenic (Feb 17, 2021)	no assertion criteria provided
Select item 116864143.	NM_015338.6(ASXL1):c.57+19G>A GRCh37: Chr20:30946654 GRCh38: Chr20:32358851	ASXL1		not provided, Bohring-Opitz syndrome, Myelodysplastic syndrome, Bohring-Opitz syndrome	Benign/Likely benign (Oct 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116855844.	NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) GRCh37: Chr20:31023942 GRCh38: Chr20:32436139	ASXL1	S1082R, S1143R	not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 112011545.	NM_015338.6(ASXL1):c.1567A>T (p.Lys523Ter) GRCh37: Chr20:31021568 GRCh38: Chr20:32433765	ASXL1	K462, K523	Bohring-Opitz syndrome	Likely pathogenic (Jul 3, 2020)	criteria provided, single submitter
Select item 103190346.	NM_015338.6(ASXL1):c.69del (p.Tyr24fs) GRCh37: Chr20:30954198 GRCh38: Chr20:32366395	ASXL1	Y14fs, Y24fs	Bohring-Opitz syndrome	Likely pathogenic (Dec 6, 2018)	criteria provided, single submitter
Select item 103190247.	NM_015338.6(ASXL1):c.3437C>A (p.Ser1146Ter) GRCh37: Chr20:31023952 GRCh38: Chr20:32436149	ASXL1	S1085, S1146	Bohring-Opitz syndrome	Pathogenic (May 11, 2018)	criteria provided, single submitter
Select item 103190148.	NM_015338.6(ASXL1):c.1589C>T (p.Ala530Val) GRCh37: Chr20:31021590 GRCh38: Chr20:32433787	ASXL1	A469V, A530V	Bohring-Opitz syndrome	Uncertain significance (Apr 3, 2018)	criteria provided, single submitter
Select item 103190049.	NM_015338.6(ASXL1):c.1387A>G (p.Ser463Gly) GRCh37: Chr20:31021388 GRCh38: Chr20:32433585	ASXL1	S463G, S402G	Bohring-Opitz syndrome	Uncertain significance (Jul 24, 2018)	criteria provided, single submitter
Select item 103049550.	NM_015338.6(ASXL1):c.3946C>G (p.Arg1316Gly) GRCh37: Chr20:31024461 GRCh38: Chr20:32436658	ASXL1	R1255G, R1316G	Bohring-Opitz syndrome	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 103049451.	NM_015338.6(ASXL1):c.1225A>G (p.Lys409Glu) GRCh37: Chr20:31021226 GRCh38: Chr20:32433423	ASXL1	K348E, K409E	Bohring-Opitz syndrome	Uncertain significance (Mar 19, 2020)	criteria provided, single submitter
Select item 99800852.	NM_015338.6(ASXL1):c.643G>A (p.Ala215Thr) GRCh37: Chr20:31017781 GRCh38: Chr20:32429978	ASXL1	A215T	Bohring-Opitz syndrome	Likely pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99800653.	NM_015338.6(ASXL1):c.658C>T (p.Gln220Ter) GRCh37: Chr20:31017796 GRCh38: Chr20:32429993	ASXL1	Q220*	Bohring-Opitz syndrome	Likely pathogenic (May 31, 2019)	no assertion criteria provided
Select item 98293554.	NM_015338.6(ASXL1):c.3425A>G (p.Gln1142Arg) GRCh37: Chr20:31023940 GRCh38: Chr20:32436137	ASXL1	Q1081R, Q1142R	Bohring-Opitz syndrome	Uncertain significance (Jan 1, 2019)	criteria provided, single submitter
Select item 97612555.	NM_015338.6(ASXL1):c.4048C>T (p.Gln1350Ter) GRCh37: Chr20:31024563 GRCh38: Chr20:32436760	ASXL1	Q1289, Q1350	Bohring-Opitz syndrome	Pathogenic (Dec 20, 2017)	criteria provided, single submitter
Select item 87058856.	NM_015338.6(ASXL1):c.1720-1G>A GRCh37: Chr20:31022234 GRCh38: Chr20:32434431	ASXL1		Bohring-Opitz syndrome	Pathogenic (Jun 24, 2019)	criteria provided, multiple submitters, no conflicts
Select item 81290057.	NM_015338.6(ASXL1):c.1900_1922del (p.Glu635fs) GRCh37: Chr20:31022403-31022425 GRCh38: Chr20:32434600-32434622	ASXL1	E635fs, E574fs	not provided, Bohring-Opitz syndrome	Pathogenic/Likely pathogenic (Aug 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 80754358.	NM_015338.6(ASXL1):c.2036dup (p.Gly680fs) GRCh37: Chr20:31022547-31022548 GRCh38: Chr20:32434744-32434745	ASXL1	G619fs, G680fs	Bohring-Opitz syndrome	Pathogenic (Jun 11, 2019)	criteria provided, single submitter
Select item 80360559.	NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser) GRCh37: Chr20:31023975 GRCh38: Chr20:32436172	ASXL1	G1154S, G1093S	Bohring-Opitz syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 80360460.	NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs) GRCh37: Chr20:31021426-31021427 GRCh38: Chr20:32433623-32433624	ASXL1	E477fs, E416fs	Bohring-Opitz syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 74583461.	NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) GRCh37: Chr20:31021466 GRCh38: Chr20:32433663	ASXL1	R428G, R489G	not provided, Bohring-Opitz syndrome	Benign/Likely benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74247862.	NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) GRCh37: Chr20:31024985 GRCh38: Chr20:32437182	ASXL1	L1490F, L1429F	Inborn genetic diseases, not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74212963.	NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) GRCh37: Chr20:31024448 GRCh38: Chr20:32436645	ASXL1		not provided, Bohring-Opitz syndrome	Benign/Likely benign (Jul 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74201164.	NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) GRCh37: Chr20:31022413 GRCh38: Chr20:32434610	ASXL1	H572R, H633R	not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73813665.	NM_015338.6(ASXL1):c.1923C>T (p.Ile641=) GRCh37: Chr20:31022438 GRCh38: Chr20:32434635	ASXL1		Bohring-Opitz syndrome, not provided	Benign/Likely benign (Oct 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73681766.	NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) GRCh37: Chr20:31024055 GRCh38: Chr20:32436252	ASXL1		Bohring-Opitz syndrome, not provided	Benign/Likely benign (Aug 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 73423267.	NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=) GRCh37: Chr20:31023788 GRCh38: Chr20:32435985	ASXL1		Bohring-Opitz syndrome, not provided	Benign (Dec 5, 2021)	criteria provided, multiple submitters, no conflicts
Select item 72987068.	NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) GRCh37: Chr20:31021332 GRCh38: Chr20:32433529	ASXL1	S383L, S444L	Inborn genetic diseases, not provided, Bohring-Opitz syndrome	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72715269.	NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) GRCh37: Chr20:31021634 GRCh38: Chr20:32433831	ASXL1	R484C, R545C	Bohring-Opitz syndrome, not provided	Benign/Likely benign (Aug 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72421870.	NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=) GRCh37: Chr20:31023899 GRCh38: Chr20:32436096	ASXL1		Bohring-Opitz syndrome, not provided	Benign (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 72080071.	NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) GRCh37: Chr20:31024254 GRCh38: Chr20:32436451	ASXL1	R1186C, R1247C	not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71520072.	NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) GRCh37: Chr20:31022574 GRCh38: Chr20:32434771	ASXL1	C626R, C687R	Bohring-Opitz syndrome, Bohring-Opitz syndrome, Myelodysplastic syndrome, not provided	Benign/Likely benign (Oct 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 71100673.	NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) GRCh37: Chr20:31023409-31023411 GRCh38: Chr20:32435606-32435608	ASXL1	G906del, G967del	Bohring-Opitz syndrome, not provided	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 70951574.	NM_015338.6(ASXL1):c.540C>T (p.Asn180=) GRCh37: Chr20:31017209 GRCh38: Chr20:32429406	ASXL1		Bohring-Opitz syndrome, not provided	Benign/Likely benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 69469575.	NM_015338.6(ASXL1):c.2416_2417dup (p.Val807fs) GRCh37: Chr20:31022929-31022930 GRCh38: Chr20:32435126-32435127	ASXL1	V807fs, V746fs	Bohring-Opitz syndrome	Pathogenic	criteria provided, single submitter
Select item 69163576.	NM_001031710.3(KLHL7):c.249del (p.Phe83fs) GRCh37: Chr7:23164330 GRCh38: Chr7:23124711	KLHL7	F35fs, F83fs	Bohring-Opitz syndrome	Pathogenic (Apr 12, 2019)	criteria provided, single submitter
Select item 66629577.	NM_015338.6(ASXL1):c.3769del (p.Ala1257fs) GRCh37: Chr20:31024284 GRCh38: Chr20:32436481	ASXL1	A1196fs, A1257fs	Bohring-Opitz syndrome	Likely pathogenic (Jan 1, 2015)	criteria provided, single submitter
Select item 63264778.	NM_015338.6(ASXL1):c.3637del (p.Leu1213fs) GRCh37: Chr20:31024150 GRCh38: Chr20:32436347	ASXL1	L1213fs, L1152fs	Bohring-Opitz syndrome	Likely pathogenic (Nov 6, 2018)	criteria provided, single submitter
Select item 63264679.	NM_015338.6(ASXL1):c.4060G>T (p.Glu1354Ter) GRCh37: Chr20:31024575 GRCh38: Chr20:32436772	ASXL1	E1354, E1293	Bohring-Opitz syndrome	Pathogenic (Jun 13, 2018)	criteria provided, single submitter
Select item 62028180.	NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter) GRCh37: Chr20:31022592 GRCh38: Chr20:32434789	ASXL1	R693, R632	not provided, Bohring-Opitz syndrome, Myelodysplastic syndrome	Pathogenic/Likely pathogenic (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 59875081.	NM_015338.6(ASXL1):c.1283_1284del (p.Gln428fs) GRCh37: Chr20:31021284-31021285 GRCh38: Chr20:32433481-32433482	ASXL1	Q428fs, Q367fs	Bohring-Opitz syndrome	Pathogenic (May 14, 2018)	criteria provided, single submitter
Select item 58761182.	NM_015338.6(ASXL1):c.4282TCT[1] (p.Ser1429del) GRCh37: Chr20:31024795-31024797 GRCh38: Chr20:32436992-32436994	ASXL1	S1429del, S1368del	Bohring-Opitz syndrome, Myelodysplastic syndrome, not provided	Uncertain significance (Sep 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 56095783.	NM_015338.6(ASXL1):c.3700C>T (p.Gln1234Ter) GRCh37: Chr20:31024215 GRCh38: Chr20:32436412	ASXL1	Q1234, Q1173	Bohring-Opitz syndrome	Pathogenic (Sep 1, 2017)	criteria provided, single submitter
Select item 54855484.	NM_015338.6(ASXL1):c.4109AGA[1] (p.Lys1371del) GRCh37: Chr20:31024624-31024626 GRCh38: Chr20:32436821-32436823	ASXL1	K1371del, K1310del	Myelodysplastic syndrome, not provided, Bohring-Opitz syndrome	Uncertain significance (May 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 52142085.	NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs) GRCh37: Chr20:31024636-31024637 GRCh38: Chr20:32436833-32436834	ASXL1	P1377fs, P1316fs	not provided, Inborn genetic diseases, Myelodysplastic syndrome, Bohring-Opitz syndrome	Pathogenic/Likely pathogenic (May 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 48847186.	NM_015338.6(ASXL1):c.217A>T (p.Lys73Ter) GRCh37: Chr20:30956891 GRCh38: Chr20:32369088	ASXL1	K73, K63	Bohring-Opitz syndrome	Pathogenic (Dec 11, 2017)	criteria provided, single submitter
Select item 48844687.	NM_015338.6(ASXL1):c.3754_3758del (p.Gln1251_Asp1252insTer) GRCh37: Chr20:31024265-31024269 GRCh38: Chr20:32436462-32436466	ASXL1		Bohring-Opitz syndrome	Pathogenic (Jun 20, 2017)	no assertion criteria provided
Select item 43170988.	NM_015338.6(ASXL1):c.3202C>T (p.Arg1068Ter) GRCh37: Chr20:31023717 GRCh38: Chr20:32435914	ASXL1	R1068, R1007	not provided, Bohring-Opitz syndrome	Pathogenic (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 42692789.	NM_015338.6(ASXL1):c.1934dup (p.Gly646fs) GRCh37: Chr20:31022441-31022442 GRCh38: Chr20:32434638-32434639	ASXL1	G585fs, G646fs	Bohring-Opitz syndrome, Abnormality of brain morphology, not provided	Pathogenic/Likely pathogenic (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33814090.	NM_015338.6(ASXL1):c.1556_1557del GRCh37: Chr20:31026697-31026698 GRCh38: Chr20:32438894-32438895	ASXL1		Bohring-Opitz syndrome	Uncertain significance (Jun 14, 2016)	criteria provided, single submitter
Select item 33811791.	NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) GRCh37: Chr20:31024613 GRCh38: Chr20:32436810	ASXL1		not provided, Bohring-Opitz syndrome	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33811392.	NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) GRCh37: Chr20:31024274 GRCh38: Chr20:32436471	ASXL1		not specified, not provided, Bohring-Opitz syndrome	Benign (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33811093.	NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) GRCh37: Chr20:31024028 GRCh38: Chr20:32436225	ASXL1		not provided, Bohring-Opitz syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33810794.	NM_015338.6(ASXL1):c.3351C>A (p.Pro1117=) GRCh37: Chr20:31023866 GRCh38: Chr20:32436063	ASXL1		not provided, Bohring-Opitz syndrome	Conflicting interpretations of pathogenicity (Sep 12, 2022)	criteria provided, conflicting interpretations
Select item 33810695.	NM_015338.6(ASXL1):c.3212C>T (p.Ala1071Val) GRCh37: Chr20:31023727 GRCh38: Chr20:32435924	ASXL1	A1071V, A1010V	not provided, Bohring-Opitz syndrome	Conflicting interpretations of pathogenicity (Jun 13, 2022)	criteria provided, conflicting interpretations
Select item 33810596.	NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) GRCh37: Chr20:31023544 GRCh38: Chr20:32435741	ASXL1	T1010M, T949M	not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33810497.	NM_015338.6(ASXL1):c.2985C>T (p.His995=) GRCh37: Chr20:31023500 GRCh38: Chr20:32435697	ASXL1		not provided, Bohring-Opitz syndrome	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33810298.	NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) GRCh37: Chr20:31023317 GRCh38: Chr20:32435514	ASXL1		not provided, Bohring-Opitz syndrome	Benign/Likely benign (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 33810099.	NM_015338.6(ASXL1):c.2544A>T (p.Thr848=) GRCh37: Chr20:31023059 GRCh38: Chr20:32435256	ASXL1		not provided, Bohring-Opitz syndrome	Likely benign (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 338099100.	NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) GRCh37: Chr20:31023041 GRCh38: Chr20:32435238	ASXL1		not provided, Bohring-Opitz syndrome	Benign/Likely benign (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts

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