ClinVar for MedGen (Select 266296) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24255861.	NC_000020.10:g.(?_18449649)_(18541384_?)dup GRCh37: Chr20:18449649-18541384	SEC23B, RBBP9, POLR3F		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 24255852.	NC_000020.10:g.(?_18516277)_(18516406_?)del GRCh37: Chr20:18516277-18516406	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 22012733.	NM_006363.6(SEC23B):c.1275C>T (p.Cys425_Val426=) GRCh37: Chr20:18513349 GRCh38: Chr20:18532705	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 21995794.	NM_006363.6(SEC23B):c.2181T>C (p.Ser727_Gln728=) GRCh37: Chr20:18535784 GRCh38: Chr20:18555140	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 21993075.	NM_006363.6(SEC23B):c.1909del (p.Val637fs) GRCh37: Chr20:18531736 GRCh38: Chr20:18551092	SEC23B	V619fs, V637fs	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 21934356.	NM_006363.6(SEC23B):c.1906-12_1906-9del GRCh37: Chr20:18531720-18531723 GRCh38: Chr20:18551076-18551079	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Jan 14, 2022)	criteria provided, single submitter
Select item 21896147.	NM_006363.6(SEC23B):c.1115A>G (p.Tyr372Cys) GRCh37: Chr20:18511329 GRCh38: Chr20:18530685	SEC23B	Y372C, Y354C	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 21787998.	NM_006363.6(SEC23B):c.146C>T (p.Pro49Leu) GRCh37: Chr20:18491625 GRCh38: Chr20:18510981	SEC23B	P49L	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 21760749.	NM_006363.6(SEC23B):c.1905+12C>T GRCh37: Chr20:18529426 GRCh38: Chr20:18548782	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 19, 2022)	criteria provided, single submitter
Select item 217362410.	NM_006363.6(SEC23B):c.631A>G (p.Met211Val) GRCh37: Chr20:18505606 GRCh38: Chr20:18524962	LOC126862987, SEC23B	M211V, M193V	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jun 24, 2022)	criteria provided, single submitter
Select item 217291911.	NM_006363.6(SEC23B):c.438A>C (p.Ala146_Leu147=) GRCh37: Chr20:18505148 GRCh38: Chr20:18524504	LOC126862987, SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Jun 22, 2022)	criteria provided, single submitter
Select item 217115812.	NM_006363.6(SEC23B):c.614G>C (p.Gly205Ala) GRCh37: Chr20:18505589 GRCh38: Chr20:18524945	LOC126862987, SEC23B	G187A, G205A	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 11, 2022)	criteria provided, single submitter
Select item 217064413.	NM_006363.6(SEC23B):c.2148+17C>G GRCh37: Chr20:18535051 GRCh38: Chr20:18554407	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Oct 18, 2022)	criteria provided, single submitter
Select item 216711514.	NM_006363.6(SEC23B):c.2011A>G (p.Lys671Glu) GRCh37: Chr20:18534897 GRCh38: Chr20:18554253	SEC23B	K653E, K671E	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Uncertain significance (Jun 11, 2022)	criteria provided, single submitter
Select item 216533415.	NM_006363.6(SEC23B):c.1234-16C>A GRCh37: Chr20:18513292 GRCh38: Chr20:18532648	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 216386616.	NM_006363.6(SEC23B):c.251C>T (p.Ala84Val) GRCh37: Chr20:18492898 GRCh38: Chr20:18512254	SEC23B	A84V	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 216272917.	NM_006363.6(SEC23B):c.819T>C (p.Ala273_Val274=) GRCh37: Chr20:18506561 GRCh38: Chr20:18525917	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 215232618.	NM_006363.6(SEC23B):c.490del (p.Val164fs) GRCh37: Chr20:18505199 GRCh38: Chr20:18524555	LOC126862987, SEC23B	V146fs, V164fs	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 215173319.	NM_006363.6(SEC23B):c.1580T>C (p.Leu527Ser) GRCh37: Chr20:18523731 GRCh38: Chr20:18543087	SEC23B	L527S, L509S	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Oct 16, 2022)	criteria provided, single submitter
Select item 215022720.	NM_006363.6(SEC23B):c.324C>T (p.Ala108_Glu109=) GRCh37: Chr20:18496338 GRCh38: Chr20:18515694	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 214941221.	NM_006363.6(SEC23B):c.1857C>G (p.Ile619Met) GRCh37: Chr20:18529366 GRCh38: Chr20:18548722	SEC23B	I619M, I601M	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 214392022.	NM_006363.6(SEC23B):c.1743+20A>G GRCh37: Chr20:18526697 GRCh38: Chr20:18546053	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 214211423.	NM_006363.6(SEC23B):c.208C>T (p.Leu70Phe) GRCh37: Chr20:18491687 GRCh38: Chr20:18511043	SEC23B	L70F	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 214137024.	NM_006363.6(SEC23B):c.1144T>A (p.Ser382Thr) GRCh37: Chr20:18511358 GRCh38: Chr20:18530714	SEC23B	S364T, S382T	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 213178725.	NM_006363.6(SEC23B):c.1244A>G (p.Glu415Gly) GRCh37: Chr20:18513318 GRCh38: Chr20:18532674	SEC23B	E397G, E415G	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 212395626.	NM_006363.6(SEC23B):c.1504G>A (p.Ala502Thr) GRCh37: Chr20:18523039 GRCh38: Chr20:18542395	SEC23B	A484T, A502T	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Apr 18, 2022)	criteria provided, single submitter
Select item 210276527.	NM_006363.6(SEC23B):c.985G>C (p.Ala329Pro) GRCh37: Chr20:18507167 GRCh38: Chr20:18526523	SEC23B	A311P, A329P	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 207974128.	NM_006363.6(SEC23B):c.604-6T>C GRCh37: Chr20:18505573 GRCh38: Chr20:18524929	LOC126862987, SEC23B		Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 206535129.	NM_006363.6(SEC23B):c.1027A>G (p.Asn343Asp) GRCh37: Chr20:18508173 GRCh38: Chr20:18527529	SEC23B	N325D, N343D	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (May 10, 2022)	criteria provided, single submitter
Select item 206365330.	NM_006363.6(SEC23B):c.2149-13G>C GRCh37: Chr20:18535739 GRCh38: Chr20:18555095	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Jul 9, 2022)	criteria provided, single submitter
Select item 206242831.	NM_006363.6(SEC23B):c.1666-3T>C GRCh37: Chr20:18526597 GRCh38: Chr20:18545953	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 204612632.	NM_006363.6(SEC23B):c.1596G>C (p.Gly532_Val533=) GRCh37: Chr20:18523747 GRCh38: Chr20:18543103	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 204173633.	NM_006363.6(SEC23B):c.5C>T (p.Ala2Val) GRCh37: Chr20:18491484 GRCh38: Chr20:18510840	SEC23B	A2V	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 204022134.	NM_006363.6(SEC23B):c.757C>T (p.Pro253Ser) GRCh37: Chr20:18506499 GRCh38: Chr20:18525855	SEC23B	P235S, P253S	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 203801535.	NM_006363.6(SEC23B):c.738T>C (p.Leu246_Gly247=) GRCh37: Chr20:18506480 GRCh38: Chr20:18525836	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Mar 20, 2022)	criteria provided, single submitter
Select item 203730636.	NM_006363.6(SEC23B):c.1753C>T (p.His585Tyr) GRCh37: Chr20:18529262 GRCh38: Chr20:18548618	SEC23B	H567Y, H585Y	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 202256637.	NM_006363.6(SEC23B):c.912T>A (p.Val304_Gly305=) GRCh37: Chr20:18507094 GRCh38: Chr20:18526450	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 202144038.	NM_006363.6(SEC23B):c.994-189T>C GRCh37: Chr20:18507951 GRCh38: Chr20:18527307	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 201858439.	NM_006363.6(SEC23B):c.366+1G>A GRCh37: Chr20:18496381 GRCh38: Chr20:18515737	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 201544540.	NM_006363.6(SEC23B):c.1665+4A>G GRCh37: Chr20:18523820 GRCh38: Chr20:18543176	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 9, 2022)	criteria provided, single submitter
Select item 201060441.	NM_006363.6(SEC23B):c.1555T>C (p.Phe519Leu) GRCh37: Chr20:18523706 GRCh38: Chr20:18543062	SEC23B	F501L, F519L	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 201060342.	NM_006363.6(SEC23B):c.1115A>T (p.Tyr372Phe) GRCh37: Chr20:18511329 GRCh38: Chr20:18530685	SEC23B	Y372F, Y354F	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 199494743.	NM_006363.6(SEC23B):c.1242G>A (p.Arg414_Glu415=) GRCh37: Chr20:18513316 GRCh38: Chr20:18532672	SEC23B		Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Likely benign (Nov 25, 2021)	criteria provided, single submitter
Select item 198864244.	NM_006363.6(SEC23B):c.1653A>G (p.Gln551_Leu552=) GRCh37: Chr20:18523804 GRCh38: Chr20:18543160	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 197894445.	NM_006363.6(SEC23B):c.1710dup (p.Arg571Ter) GRCh37: Chr20:18526640-18526641 GRCh38: Chr20:18545996-18545997	SEC23B	R571, R553	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Pathogenic (Jul 8, 2022)	criteria provided, single submitter
Select item 197687446.	NM_006363.6(SEC23B):c.1443C>T (p.Ile481_Gln482=) GRCh37: Chr20:18522978 GRCh38: Chr20:18542334	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 197576847.	NM_006363.6(SEC23B):c.1626C>G (p.Pro542_Asp543=) GRCh37: Chr20:18523777 GRCh38: Chr20:18543133	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Dec 28, 2021)	criteria provided, single submitter
Select item 197162648.	NC_000020.10:g.18488060A>G GRCh37: Chr20:18488060 GRCh38: Chr20:18507416	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Jan 19, 2022)	criteria provided, single submitter
Select item 196756049.	NM_006363.6(SEC23B):c.1992+14ATTA[2] GRCh37: Chr20:18531833-18531836 GRCh38: Chr20:18551189-18551192	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 196133350.	NM_006363.6(SEC23B):c.1638G>C (p.Arg546_Trp547=) GRCh37: Chr20:18523789 GRCh38: Chr20:18543145	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 195316951.	NM_006363.6(SEC23B):c.183C>T (p.Cys61_Ser62=) GRCh37: Chr20:18491662 GRCh38: Chr20:18511018	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Aug 21, 2022)	criteria provided, single submitter
Select item 195001052.	NM_006363.6(SEC23B):c.357C>T (p.Tyr119_Val120=) GRCh37: Chr20:18496371 GRCh38: Chr20:18515727	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 192550253.	NM_006363.6(SEC23B):c.338A>C (p.Gln113Pro) GRCh37: Chr20:18496352 GRCh38: Chr20:18515708	SEC23B	Q113P	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 189556454.	NM_006363.6(SEC23B):c.6G>A (p.Ala2_Thr3=) GRCh37: Chr20:18491485 GRCh38: Chr20:18510841	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (May 30, 2022)	criteria provided, single submitter
Select item 180637355.	NM_006363.6(SEC23B):c.640C>T (p.Gln214Ter) GRCh37: Chr20:18505615 GRCh38: Chr20:18524971	LOC126862987, SEC23B	Q196, Q214	not provided, Congenital dyserythropoietic anemia, type II	Pathogenic (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 171347456.	NM_006363.6(SEC23B):c.1637G>T (p.Arg546Leu) GRCh37: Chr20:18523788 GRCh38: Chr20:18543144	SEC23B	R528L, R546L	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 170550757.	NM_006363.6(SEC23B):c.113del (p.Leu38fs) GRCh37: Chr20:18491592 GRCh38: Chr20:18510948	SEC23B	L38fs	Congenital dyserythropoietic anemia, type II	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170141858.	NM_006363.6(SEC23B):c.53G>A (p.Arg18His) GRCh37: Chr20:18491532 GRCh38: Chr20:18510888	SEC23B	R18H	not provided, Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Conflicting interpretations of pathogenicity (Jul 1, 2022)	criteria provided, conflicting interpretations
Select item 168617459.	NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) GRCh37: Chr20:18505077 GRCh38: Chr20:18524433	LOC126862987, SEC23B	R123*	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Pathogenic (May 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 163119160.	NM_006363.6(SEC23B):c.2149-21TTG[4] GRCh37: Chr20:18535731-18535733 GRCh38: Chr20:18555087-18555089	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 162839561.	NM_006363.6(SEC23B):c.279+18A>T GRCh37: Chr20:18492944 GRCh38: Chr20:18512300	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 22, 2022)	criteria provided, single submitter
Select item 161964362.	NM_006363.6(SEC23B):c.1569T>C (p.Ala523=) GRCh37: Chr20:18523720 GRCh38: Chr20:18543076	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Feb 20, 2021)	criteria provided, single submitter
Select item 161415363.	NM_006363.6(SEC23B):c.834+14T>C GRCh37: Chr20:18506590 GRCh38: Chr20:18525946	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 161364964.	NM_006363.6(SEC23B):c.1992+12T>C GRCh37: Chr20:18531831 GRCh38: Chr20:18551187	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Mar 21, 2021)	criteria provided, single submitter
Select item 160881065.	NM_006363.6(SEC23B):c.835-11C>T GRCh37: Chr20:18507006 GRCh38: Chr20:18526362	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 160165266.	NM_006363.6(SEC23B):c.1666-148G>C GRCh37: Chr20:18526452 GRCh38: Chr20:18545808	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Feb 11, 2022)	criteria provided, single submitter
Select item 160026767.	NM_006363.6(SEC23B):c.367-17T>C GRCh37: Chr20:18505060 GRCh38: Chr20:18524416	LOC126862987, SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Sep 24, 2022)	criteria provided, single submitter
Select item 159994868.	NM_006363.6(SEC23B):c.604-4dup GRCh37: Chr20:18505563-18505564 GRCh38: Chr20:18524919-18524920	LOC126862987, SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Nov 1, 2022)	criteria provided, single submitter
Select item 158306469.	NM_006363.6(SEC23B):c.1993-16G>A GRCh37: Chr20:18534863 GRCh38: Chr20:18554219	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Aug 15, 2022)	criteria provided, single submitter
Select item 156953070.	NM_006363.6(SEC23B):c.328T>C (p.Leu110=) GRCh37: Chr20:18496342 GRCh38: Chr20:18515698	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Apr 16, 2021)	criteria provided, single submitter
Select item 154444371.	NM_006363.6(SEC23B):c.1404+20_1404+21del GRCh37: Chr20:18516406-18516407 GRCh38: Chr20:18535762-18535763	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Oct 31, 2022)	criteria provided, single submitter
Select item 153046872.	NM_006363.6(SEC23B):c.1234-14_1234-13del GRCh37: Chr20:18513292-18513293 GRCh38: Chr20:18532648-18532649	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 10, 2021)	criteria provided, single submitter
Select item 151514573.	NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys) GRCh37: Chr20:18534987 GRCh38: Chr20:18554343	SEC23B	R683C, R701C	SEC23B-Related Disorders, Congenital dyserythropoietic anemia, type II, Cowden syndrome 7, not provided	Likely pathogenic (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 147901474.	NM_006363.6(SEC23B):c.1636C>T (p.Arg546Trp) GRCh37: Chr20:18523787 GRCh38: Chr20:18543143	SEC23B	R546W, R528W	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II, not provided	Uncertain significance (Aug 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 146679175.	NM_006363.6(SEC23B):c.1486A>G (p.Ile496Val) GRCh37: Chr20:18523021 GRCh38: Chr20:18542377	SEC23B	I478V, I496V	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Aug 10, 2021)	criteria provided, single submitter
Select item 146536376.	NM_006363.6(SEC23B):c.2126A>G (p.Asn709Ser) GRCh37: Chr20:18535012 GRCh38: Chr20:18554368	SEC23B	N709S, N691S	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II, not provided	Uncertain significance (Dec 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 144860877.	NM_006363.6(SEC23B):c.2242G>A (p.Asp748Asn) GRCh37: Chr20:18541322 GRCh38: Chr20:18560678	SEC23B	D748N, D730N	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Uncertain significance (Sep 19, 2021)	criteria provided, single submitter
Select item 143897178.	NM_006363.6(SEC23B):c.916G>A (p.Asp306Asn) GRCh37: Chr20:18507098 GRCh38: Chr20:18526454	SEC23B	D288N, D306N	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 142509879.	NM_006363.6(SEC23B):c.1400A>G (p.Asn467Ser) GRCh37: Chr20:18516382 GRCh38: Chr20:18535738	SEC23B	N449S, N467S	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 142171480.	NM_006363.6(SEC23B):c.546A>T (p.Gly182=) GRCh37: Chr20:18505256 GRCh38: Chr20:18524612	LOC126862987, SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 140989581.	NM_006363.6(SEC23B):c.1415C>T (p.Pro472Leu) GRCh37: Chr20:18522950 GRCh38: Chr20:18542306	SEC23B	P472L, P454L	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Aug 24, 2021)	criteria provided, single submitter
Select item 140525382.	NM_006363.6(SEC23B):c.2009G>A (p.Arg670His) GRCh37: Chr20:18534895 GRCh38: Chr20:18554251	SEC23B	R652H, R670H	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 135867683.	NM_006363.6(SEC23B):c.1603C>T (p.Arg535Ter) GRCh37: Chr20:18523754 GRCh38: Chr20:18543110	SEC23B	R535, R517	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Pathogenic (Sep 19, 2021)	criteria provided, single submitter
Select item 133076784.	NM_006363.6(SEC23B):c.221+76A>G GRCh37: Chr20:18491776 GRCh38: Chr20:18511132	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7, not provided	Benign/Likely benign (Mar 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132504385.	NM_006363.6(SEC23B):c.1385A>G (p.Tyr462Cys) GRCh37: Chr20:18516367 GRCh38: Chr20:18535723	SEC23B	Y444C, Y462C	not provided, Congenital dyserythropoietic anemia, type II	Conflicting interpretations of pathogenicity (Mar 22, 2022)	criteria provided, conflicting interpretations
Select item 126801486.	NM_006363.6(SEC23B):c.834+40T>C GRCh37: Chr20:18506616 GRCh38: Chr20:18525972	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7, not provided	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 124987687.	NM_006363.6(SEC23B):c.834+41G>A GRCh37: Chr20:18506617 GRCh38: Chr20:18525973	SEC23B		Congenital dyserythropoietic anemia, type II, not provided, Cowden syndrome 7	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 122974988.	NM_006363.6(SEC23B):c.1665+48C>T GRCh37: Chr20:18523864 GRCh38: Chr20:18543220	SEC23B		Congenital dyserythropoietic anemia, type II, not provided, Cowden syndrome 7	Benign (Jul 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 116728389.	NM_006363.6(SEC23B):c.604-5_604-4dup GRCh37: Chr20:18505563-18505564 GRCh38: Chr20:18524919-18524920	LOC126862987, SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Benign (Oct 27, 2022)	criteria provided, single submitter
Select item 116539690.	NM_006363.6(SEC23B):c.834+116A>G GRCh37: Chr20:18506692 GRCh38: Chr20:18526048	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7, not provided	Benign/Likely benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 116374391.	NM_006363.6(SEC23B):c.2268C>T (p.Asp756=) GRCh37: Chr20:18541348 GRCh38: Chr20:18560704	SEC23B		Cowden syndrome 7, Congenital dyserythropoietic anemia, type II, not provided	Conflicting interpretations of pathogenicity (Jul 19, 2021)	criteria provided, conflicting interpretations
Select item 114160492.	NM_006363.6(SEC23B):c.1884C>T (p.Tyr628=) GRCh37: Chr20:18529393 GRCh38: Chr20:18548749	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Sep 14, 2020)	criteria provided, single submitter
Select item 111097693.	NM_006363.6(SEC23B):c.1062T>C (p.Leu354=) GRCh37: Chr20:18508208 GRCh38: Chr20:18527564	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Nov 30, 2020)	criteria provided, single submitter
Select item 110086594.	NM_006363.6(SEC23B):c.1416G>C (p.Pro472=) GRCh37: Chr20:18522951 GRCh38: Chr20:18542307	SEC23B		Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Dec 12, 2019)	criteria provided, single submitter
Select item 104705195.	NM_006363.6(SEC23B):c.358G>A (p.Val120Met) GRCh37: Chr20:18496372 GRCh38: Chr20:18515728	SEC23B	V120M	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 103879896.	NM_006363.6(SEC23B):c.820G>A (p.Val274Ile) GRCh37: Chr20:18506562 GRCh38: Chr20:18525918	SEC23B	V274I, V256I	Congenital dyserythropoietic anemia, type II, Cowden syndrome 7	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 103010197.	NM_006363.6(SEC23B):c.-14-1G>A GRCh37: Chr20:18491465 GRCh38: Chr20:18510821	SEC23B		Congenital dyserythropoietic anemia, type II	Uncertain significance (Dec 16, 2019)	criteria provided, single submitter
Select item 102698698.	NM_006363.6(SEC23B):c.1475C>T (p.Thr492Ile) GRCh37: Chr20:18523010 GRCh38: Chr20:18542366	SEC23B	T474I, T492I	Cowden syndrome 7, Congenital dyserythropoietic anemia, type II	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter

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