ClinVar for MedGen (Select 307142) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25041171.	NC_000023.11:g.13738845G>T	OFD1		Orofaciodigital syndrome I	Likely pathogenic	criteria provided, single submitter
Select item 24996802.	NM_003611.3(OFD1):c.112-11T>G GRCh37: ChrX:13754586 GRCh38: ChrX:13736467	OFD1		Orofaciodigital syndrome I	Pathogenic (Apr 1, 2023)	criteria provided, single submitter
Select item 24247083.	NC_000023.10:g.(?_13734103)_(13787227_?)dup GRCh37: ChrX:13734103-13787227	OFD1, TRAPPC2		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 7, 2022)	criteria provided, single submitter
Select item 24234664.	NC_000023.10:g.(?_12885698)_(13787227_?)del GRCh37: ChrX:12885698-13787227	ATXN3L, EGFL6, FAM9C, OFD1, RAB9A, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2		Orofaciodigital syndrome I, Familial aplasia of the vermis, not provided	Pathogenic (Oct 27, 2022)	criteria provided, single submitter
Select item 24206725.	NM_003611.3(OFD1):c.503A>G (p.Asn168Ser) GRCh37: ChrX:13762624 GRCh38: ChrX:13744505	OFD1	N168S, N28S	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 24154256.	NM_003611.3(OFD1):c.1262C>G (p.Thr421Arg) GRCh37: ChrX:13774737 GRCh38: ChrX:13756618	OFD1	T281R, T381R, T421R	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 24132907.	NM_003611.3(OFD1):c.974C>T (p.Thr325Ile) GRCh37: ChrX:13769406 GRCh38: ChrX:13751287	OFD1	T185I, T325I	Orofaciodigital syndrome I, Familial aplasia of the vermis, not provided	Uncertain significance (Oct 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 21999218.	NM_003611.3(OFD1):c.2372C>T (p.Pro791Leu) GRCh37: ChrX:13779315 GRCh38: ChrX:13761196	OFD1	P791L, P651L, P751L	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 21989819.	NM_003611.3(OFD1):c.2166C>T (p.Ala722=) GRCh37: ChrX:13778745 GRCh38: ChrX:13760626	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219869110.	NM_003611.3(OFD1):c.651A>G (p.Gln217=) GRCh37: ChrX:13764571 GRCh38: ChrX:13746452	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Sep 4, 2022)	criteria provided, single submitter
Select item 219786311.	NM_003611.3(OFD1):c.360T>G (p.Thr120=) GRCh37: ChrX:13757012 GRCh38: ChrX:13738893	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 219756212.	NM_003611.3(OFD1):c.1894A>G (p.Lys632Glu) GRCh37: ChrX:13778473 GRCh38: ChrX:13760354	OFD1	K492E, K632E, K592E	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 219532813.	NM_003611.3(OFD1):c.178C>T (p.Arg60Trp) GRCh37: ChrX:13754663 GRCh38: ChrX:13736544	OFD1	R60W	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 219060614.	NM_003611.3(OFD1):c.2423G>A (p.Ser808Asn) GRCh37: ChrX:13780498 GRCh38: ChrX:13762379	OFD1	S668N, S808N, S768N	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 218920215.	NM_003611.3(OFD1):c.1412G>C (p.Arg471Pro) GRCh37: ChrX:13775779 GRCh38: ChrX:13757660	OFD1	R431P, R331P, R471P	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 218071816.	NM_003611.3(OFD1):c.2009C>T (p.Pro670Leu) GRCh37: ChrX:13778588 GRCh38: ChrX:13760469	OFD1	P530L, P630L, P670L	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 218064517.	NM_003611.3(OFD1):c.675C>T (p.Thr225=) GRCh37: ChrX:13764919 GRCh38: ChrX:13746800	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 218052118.	NM_003611.3(OFD1):c.2489-13G>A GRCh37: ChrX:13781851 GRCh38: ChrX:13763732	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 217440419.	NM_003611.3(OFD1):c.1300A>G (p.Met434Val) GRCh37: ChrX:13774775 GRCh38: ChrX:13756656	OFD1	M394V, M294V, M434V	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 217419420.	NM_003611.3(OFD1):c.1412-11T>A GRCh37: ChrX:13775768 GRCh38: ChrX:13757649	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Mar 16, 2022)	criteria provided, single submitter
Select item 216883421.	NM_003611.3(OFD1):c.579C>G (p.Phe193Leu) GRCh37: ChrX:13764499 GRCh38: ChrX:13746380	OFD1	F193L, F53L	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 216685222.	NM_003611.3(OFD1):c.1194A>G (p.Gln398=) GRCh37: ChrX:13773334 GRCh38: ChrX:13755215	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 216438223.	NM_003611.3(OFD1):c.800C>T (p.Thr267Ile) GRCh37: ChrX:13765044 GRCh38: ChrX:13746925	OFD1	T267I, T127I	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 216327424.	NM_003611.3(OFD1):c.2227A>G (p.Lys743Glu) GRCh37: ChrX:13778806 GRCh38: ChrX:13760687	OFD1	K603E, K703E, K743E	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 216242825.	NM_003611.3(OFD1):c.1222-15C>G GRCh37: ChrX:13774682 GRCh38: ChrX:13756563	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Sep 1, 2022)	criteria provided, single submitter
Select item 216237826.	NM_003611.3(OFD1):c.1795G>A (p.Val599Ile) GRCh37: ChrX:13778374 GRCh38: ChrX:13760255	OFD1	V459I, V559I, V599I	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 216118027.	NM_003611.3(OFD1):c.2970G>T (p.Thr990=) GRCh37: ChrX:13786878 GRCh38: ChrX:13768759	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 215913828.	NM_003611.3(OFD1):c.678G>A (p.Glu226=) GRCh37: ChrX:13764922 GRCh38: ChrX:13746803	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215778529.	NM_003611.3(OFD1):c.2969C>T (p.Thr990Met) GRCh37: ChrX:13786877 GRCh38: ChrX:13768758	OFD1	T950M, T990M, T850M	not provided, Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jun 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 215335930.	NM_003611.3(OFD1):c.1172C>T (p.Ser391Leu) GRCh37: ChrX:13773312 GRCh38: ChrX:13755193	OFD1	S351L, S251L, S391L	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Mar 10, 2022)	criteria provided, single submitter
Select item 215280031.	NM_003611.3(OFD1):c.1621G>A (p.Asp541Asn) GRCh37: ChrX:13776534 GRCh38: ChrX:13758415	OFD1	D501N, D401N, D541N	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 215244932.	NM_003611.3(OFD1):c.2414A>G (p.Gln805Arg) GRCh37: ChrX:13780489 GRCh38: ChrX:13762370	OFD1	Q765R, Q805R, Q665R	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 215091333.	NM_003611.3(OFD1):c.61A>G (p.Lys21Glu) GRCh37: ChrX:13753415 GRCh38: ChrX:13735296	LOC126863212, OFD1	K21E	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 214908334.	NM_003611.3(OFD1):c.2595C>T (p.His865=) GRCh37: ChrX:13781970 GRCh38: ChrX:13763851	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 214742635.	NM_003611.3(OFD1):c.903A>G (p.Ala301=) GRCh37: ChrX:13767620 GRCh38: ChrX:13749501	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 214502136.	NM_003611.3(OFD1):c.2351_2365dup (p.Ser788_Ser789insIleProProValSer) GRCh37: ChrX:13779287-13779288 GRCh38: ChrX:13761168-13761169	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 214300337.	NM_003611.3(OFD1):c.1129+15dup GRCh37: ChrX:13771569-13771570 GRCh38: ChrX:13753450-13753451	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Benign (Jun 13, 2022)	criteria provided, single submitter
Select item 214262138.	NM_003611.3(OFD1):c.2940G>C (p.Lys980Asn) GRCh37: ChrX:13786848 GRCh38: ChrX:13768729	OFD1	K980N, K840N, K940N	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Sep 3, 2022)	criteria provided, single submitter
Select item 214061739.	NM_003611.3(OFD1):c.381+10C>G GRCh37: ChrX:13757043 GRCh38: ChrX:13738924	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Sep 3, 2022)	criteria provided, single submitter
Select item 213847640.	NM_003611.3(OFD1):c.2101C>T (p.Gln701Ter) GRCh37: ChrX:13778680 GRCh38: ChrX:13760561	OFD1	Q661, Q561, Q701*	Orofaciodigital syndrome I, Familial aplasia of the vermis	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 213847541.	NM_003611.3(OFD1):c.1220_1221+1del GRCh37: ChrX:13773359-13773361 GRCh38: ChrX:13755240-13755242	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely pathogenic (Feb 20, 2022)	criteria provided, single submitter
Select item 213847442.	NM_003611.3(OFD1):c.616_617del (p.Glu206fs) GRCh37: ChrX:13764531-13764532 GRCh38: ChrX:13746412-13746413	OFD1	E206fs, E66fs	not provided, Familial aplasia of the vermis, Orofaciodigital syndrome I	Pathogenic (Nov 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213788343.	NM_003611.3(OFD1):c.1879T>C (p.Phe627Leu) GRCh37: ChrX:13778458 GRCh38: ChrX:13760339	OFD1	F487L, F627L, F587L	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 213415344.	NM_003611.3(OFD1):c.2362T>A (p.Ser788Thr) GRCh37: ChrX:13779305 GRCh38: ChrX:13761186	OFD1	S748T, S788T, S648T	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 213266945.	NM_003611.3(OFD1):c.105A>G (p.Thr35=) GRCh37: ChrX:13753459 GRCh38: ChrX:13735340	LOC126863212, OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 212932046.	NM_003611.3(OFD1):c.2747A>G (p.Tyr916Cys) GRCh37: ChrX:13785393 GRCh38: ChrX:13767274	OFD1	Y776C, Y876C, Y916C	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212865047.	NM_003611.3(OFD1):c.1056-11C>T GRCh37: ChrX:13771476 GRCh38: ChrX:13753357	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 212796348.	NM_003611.3(OFD1):c.1743C>A (p.Cys581Ter) GRCh37: ChrX:13778322 GRCh38: ChrX:13760203	OFD1	C441, C541, C581*	Orofaciodigital syndrome I, Familial aplasia of the vermis	Pathogenic (Apr 19, 2022)	criteria provided, single submitter
Select item 212557849.	NM_003611.3(OFD1):c.2489-16A>G GRCh37: ChrX:13781848 GRCh38: ChrX:13763729	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 19, 2022)	criteria provided, single submitter
Select item 212133150.	NM_003611.3(OFD1):c.518-19A>G GRCh37: ChrX:13764419 GRCh38: ChrX:13746300	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 212043851.	NM_003611.3(OFD1):c.43A>G (p.Ser15Gly) GRCh37: ChrX:13753397 GRCh38: ChrX:13735278	LOC126863212, OFD1	S15G	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 211964552.	NM_003611.3(OFD1):c.497C>A (p.Thr166Lys) GRCh37: ChrX:13762618 GRCh38: ChrX:13744499	OFD1	T26K, T166K	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 211904353.	NM_003611.3(OFD1):c.2992G>C (p.Glu998Gln) GRCh37: ChrX:13786900 GRCh38: ChrX:13768781	OFD1	E958Q, E998Q, E858Q	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211897054.	NM_003611.3(OFD1):c.550G>A (p.Ala184Thr) GRCh37: ChrX:13764470 GRCh38: ChrX:13746351	OFD1	A44T, A184T	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Mar 28, 2022)	criteria provided, single submitter
Select item 211853755.	NM_003611.3(OFD1):c.1056-15C>T GRCh37: ChrX:13771472 GRCh38: ChrX:13753353	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 211723056.	NM_003611.3(OFD1):c.2328T>A (p.Thr776=) GRCh37: ChrX:13779271 GRCh38: ChrX:13761152	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211188757.	NM_003611.3(OFD1):c.1380G>A (p.Glu460=) GRCh37: ChrX:13774855 GRCh38: ChrX:13756736	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 210989858.	NM_003611.3(OFD1):c.1287A>G (p.Glu429=) GRCh37: ChrX:13774762 GRCh38: ChrX:13756643	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210470459.	NM_003611.3(OFD1):c.28G>T (p.Val10Leu) GRCh37: ChrX:13753382 GRCh38: ChrX:13735263	LOC126863212, OFD1	V10L	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210432060.	NM_003611.3(OFD1):c.1258A>G (p.Ile420Val) GRCh37: ChrX:13774733 GRCh38: ChrX:13756614	OFD1	I380V, I280V, I420V	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 210272561.	NM_003611.3(OFD1):c.1443C>G (p.Val481=) GRCh37: ChrX:13775810 GRCh38: ChrX:13757691	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210175462.	NM_003611.3(OFD1):c.1539C>T (p.Asp513=) GRCh37: ChrX:13775906 GRCh38: ChrX:13757787	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Feb 22, 2022)	criteria provided, single submitter
Select item 209947663.	NM_003611.3(OFD1):c.17A>G (p.Asn6Ser) GRCh37: ChrX:13753371 GRCh38: ChrX:13735252	LOC126863212, OFD1	N6S	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 209285464.	NM_003611.3(OFD1):c.12+8C>T GRCh37: ChrX:13753210 GRCh38: ChrX:13735091	LOC126863212, OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Feb 11, 2022)	criteria provided, single submitter
Select item 209217365.	NM_003611.3(OFD1):c.1892C>G (p.Thr631Ser) GRCh37: ChrX:13778471 GRCh38: ChrX:13760352	OFD1	T591S, T491S, T631S	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 208966766.	NM_003611.3(OFD1):c.1141C>G (p.His381Asp) GRCh37: ChrX:13773281 GRCh38: ChrX:13755162	OFD1	H381D, H241D, H341D	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 208824367.	NM_003611.3(OFD1):c.672T>G (p.Asp224Glu) GRCh37: ChrX:13764916 GRCh38: ChrX:13746797	OFD1	D224E, D84E	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 208366968.	NM_003611.3(OFD1):c.2928+7G>A GRCh37: ChrX:13786350 GRCh38: ChrX:13768231	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 208047669.	NM_003611.3(OFD1):c.935+8A>T GRCh37: ChrX:13767660 GRCh38: ChrX:13749541	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Jul 1, 2022)	criteria provided, single submitter
Select item 207990770.	NM_003611.3(OFD1):c.112-18_112-13del GRCh37: ChrX:13754574-13754579 GRCh38: ChrX:13736455-13736460	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Dec 21, 2021)	criteria provided, single submitter
Select item 207986971.	NM_003611.3(OFD1):c.2011C>T (p.Pro671Ser) GRCh37: ChrX:13778590 GRCh38: ChrX:13760471	OFD1	P531S, P631S, P671S	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 207875272.	NM_003611.3(OFD1):c.1760G>A (p.Gly587Glu) GRCh37: ChrX:13778339 GRCh38: ChrX:13760220	OFD1	G447E, G547E, G587E	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 207758373.	NM_003611.3(OFD1):c.1055+10T>C GRCh37: ChrX:13769497 GRCh38: ChrX:13751378	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 207643674.	NM_003611.3(OFD1):c.1005A>G (p.Ile335Met) GRCh37: ChrX:13769437 GRCh38: ChrX:13751318	OFD1	I195M, I335M	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 207483175.	NM_003611.3(OFD1):c.2546T>G (p.Met849Arg) GRCh37: ChrX:13781921 GRCh38: ChrX:13763802	OFD1	M709R, M809R, M849R	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jun 12, 2022)	criteria provided, single submitter
Select item 207299676.	NM_003611.3(OFD1):c.1425G>C (p.Pro475=) GRCh37: ChrX:13775792 GRCh38: ChrX:13757673	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 206490677.	NM_003611.3(OFD1):c.2308A>G (p.Met770Val) GRCh37: ChrX:13779251 GRCh38: ChrX:13761132	OFD1	M630V, M770V, M730V	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (May 13, 2022)	criteria provided, single submitter
Select item 206247578.	NM_003611.3(OFD1):c.602A>G (p.Asn201Ser) GRCh37: ChrX:13764522 GRCh38: ChrX:13746403	OFD1	N61S, N201S	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Apr 8, 2022)	criteria provided, single submitter
Select item 206060979.	NM_003611.3(OFD1):c.1056-21_1056-18del GRCh37: ChrX:13771464-13771467 GRCh38: ChrX:13753345-13753348	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 205499580.	NM_003611.3(OFD1):c.1942G>T (p.Ala648Ser) GRCh37: ChrX:13778521 GRCh38: ChrX:13760402	OFD1	A508S, A648S, A608S	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 205137181.	NM_003611.3(OFD1):c.2179G>A (p.Gly727Arg) GRCh37: ChrX:13778758 GRCh38: ChrX:13760639	OFD1	G587R, G687R, G727R	Familial aplasia of the vermis, Orofaciodigital syndrome I	Benign (Sep 28, 2022)	criteria provided, single submitter
Select item 205029782.	NM_003611.3(OFD1):c.2387+16T>G GRCh37: ChrX:13779346 GRCh38: ChrX:13761227	OFD1		Familial aplasia of the vermis, Orofaciodigital syndrome I	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 204798483.	NM_003611.3(OFD1):c.1421A>C (p.Gln474Pro) GRCh37: ChrX:13775788 GRCh38: ChrX:13757669	OFD1	Q334P, Q434P, Q474P	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 204787084.	NM_003611.3(OFD1):c.1073A>G (p.Lys358Arg) GRCh37: ChrX:13771504 GRCh38: ChrX:13753385	OFD1	K218R, K358R, K318R	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 204668185.	NM_003611.3(OFD1):c.2386G>T (p.Gly796Cys) GRCh37: ChrX:13779329 GRCh38: ChrX:13761210	OFD1	G756C, G796C, G656C	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jun 1, 2022)	criteria provided, single submitter
Select item 204247186.	NM_003611.3(OFD1):c.1712A>G (p.Asn571Ser) GRCh37: ChrX:13778291 GRCh38: ChrX:13760172	OFD1	N531S, N571S, N431S	Familial aplasia of the vermis, Orofaciodigital syndrome I	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 203606387.	NM_003611.3(OFD1):c.2725C>A (p.Arg909=) GRCh37: ChrX:13785371 GRCh38: ChrX:13767252	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Oct 26, 2022)	criteria provided, single submitter
Select item 203567088.	NM_003611.3(OFD1):c.2586A>G (p.Ser862=) GRCh37: ChrX:13781961 GRCh38: ChrX:13763842	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Oct 23, 2022)	criteria provided, single submitter
Select item 203398089.	NM_003611.3(OFD1):c.1784A>G (p.Lys595Arg) GRCh37: ChrX:13778363 GRCh38: ChrX:13760244	OFD1	K455R, K595R, K555R	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 203167490.	NM_003611.3(OFD1):c.971T>C (p.Ile324Thr) GRCh37: ChrX:13769403 GRCh38: ChrX:13751284	OFD1	I184T, I324T	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 202817291.	NM_003611.3(OFD1):c.42G>A (p.Leu14=) GRCh37: ChrX:13753396 GRCh38: ChrX:13735277	LOC126863212, OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 202575592.	NM_003611.3(OFD1):c.1056-3C>G GRCh37: ChrX:13771484 GRCh38: ChrX:13753365	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 202548593.	NM_003611.3(OFD1):c.1129+12G>C GRCh37: ChrX:13771572 GRCh38: ChrX:13753453	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 201882194.	NM_003611.3(OFD1):c.2395C>T (p.Arg799Ter) GRCh37: ChrX:13780470 GRCh38: ChrX:13762351	OFD1	R759, R659, R799*	Orofaciodigital syndrome I, Familial aplasia of the vermis	Pathogenic (Oct 17, 2022)	criteria provided, single submitter
Select item 201520495.	NM_003611.3(OFD1):c.2599+4A>C GRCh37: ChrX:13781978 GRCh38: ChrX:13763859	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 201439296.	NM_003611.3(OFD1):c.275C>T (p.Ser92Phe) GRCh37: ChrX:13754760 GRCh38: ChrX:13736641	OFD1	S92F	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 201438997.	NM_003611.3(OFD1):c.262_273del (p.Glu88_Leu91del) GRCh37: ChrX:13754746-13754757 GRCh38: ChrX:13736627-13736638	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 201415998.	NM_003611.3(OFD1):c.1859C>T (p.Ser620Phe) GRCh37: ChrX:13778438 GRCh38: ChrX:13760319	OFD1	S480F, S620F, S580F	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 201374099.	NM_003611.3(OFD1):c.2588A>G (p.Tyr863Cys) GRCh37: ChrX:13781963 GRCh38: ChrX:13763844	OFD1	Y723C, Y863C, Y823C	Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 2013638100.	NM_003611.3(OFD1):c.2489-10C>T GRCh37: ChrX:13781854 GRCh38: ChrX:13763735	OFD1		Orofaciodigital syndrome I, Familial aplasia of the vermis	Uncertain significance (Sep 9, 2022)	criteria provided, single submitter

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