ClinVar for MedGen (Select 78641) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25062731.	NM_000026.4(ADSL):c.482+1G>C GRCh37: Chr22:40750332 GRCh38: Chr22:40354328	ADSL		Adenylosuccinate lyase deficiency	Likely pathogenic (May 24, 2023)	criteria provided, single submitter
Select item 24221502.	NC_000022.10:g.(?_35776672)_(42486826_?)dup GRCh37: Chr22:35776672-42486826	APOL2, APOL3, MEI1, MFNG, MGAT3, MRTFA, MYH9, NAGA, NCF4, MPST, POLR3H, MICALL1, MIEF1, MIR33A, MIR659, APOL4, APOL5, C1QTNF6, C22orf23, CACNA1I, CBY1, CCDC134, CACNG2, CARD10, CBX6, CBX7, APOL6, ATF4, BAIAP2L2, ACO2, ADSL, ANKRD54, APOBEC3A, APOBEC3B, APOBEC3C, APOBEC3D, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, CDC42EP1, CENPM, CHADL, CIMIP4, CSDC2, CSF2RB, CSNK1E, CYTH4, DDX17, DESI1, DMC1, DNAJB7, DNAL4, EIF3D, EIF3L, ELFN2, ENTHD1, EP300, FAM227A, FAM83F, FOXRED2, GALR3, GCAT, GGA1, GRAP2, GTPBP1, H1-0, HMOX1, IFT27, IL2RB, JOSD1, KCNJ4, KCTD17, KDELR3, L3MBTL2, L3MBTL2-AS1, LGALS1, LGALS2, MAFF, MB, MCHR1, MCM5, NDUFA6, NOL12, NPTXR, PDGFB, PDXP, PHETA2, PHF5A, PICK1, PLA2G6, PMM1, POLR2F, PVALB, RAC2, RANGAP1, RASD2, RBFOX2, RBX1, RPL3, RPS19BP1, SEPTIN3, SGSM3, SH3BP1, SHISA8, SLC16A8, SLC25A17, SMDT1, SNORD139, SNORD43, SNORD83A, SNORD83B, SNU13, SOX10, SREBF2, SSTR3, ST13, SUN2, SYNGR1, TAB1, TEF, TMEM184B, TMPRSS6, TNFRSF13C, TNRC6B, TOB2, TOMM22, TRIOBP, TST, TXN2, WBP2NL, XPNPEP3, XRCC6, ZC3H7B		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 24221493.	NC_000022.10:g.(?_40741451)_(40756516_?)del GRCh37: Chr22:40741451-40756516	ADSL		Adenylosuccinate lyase deficiency	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 24216124.	NM_000026.4(ADSL):c.621T>C (p.Ser207=) GRCh37: Chr22:40755006 GRCh38: Chr22:40359002	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 24188275.	NM_000026.4(ADSL):c.357+15_357+22dup GRCh37: Chr22:40746053-40746054 GRCh38: Chr22:40350049-40350050	ADSL		Adenylosuccinate lyase deficiency	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 24160846.	NC_000022.11:g.40346222C>T GRCh37: Chr22:40742226 GRCh38: Chr22:40346222	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 24155557.	NC_000022.11:g.40346283_40346292del GRCh37: Chr22:40742285-40742294 GRCh38: Chr22:40346281-40346290	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 24150428.	NM_000026.4(ADSL):c.1368+14A>C GRCh37: Chr22:40761074 GRCh38: Chr22:40365070	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Aug 25, 2022)	criteria provided, single submitter
Select item 24147439.	NM_000026.4(ADSL):c.1452G>C (p.Leu484=) GRCh37: Chr22:40762523 GRCh38: Chr22:40366519	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 220198910.	NM_000026.4(ADSL):c.153+16C>G GRCh37: Chr22:40742731 GRCh38: Chr22:40346727	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 220107511.	NC_000022.11:g.40346472C>T GRCh37: Chr22:40742476 GRCh38: Chr22:40346472	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 219796512.	NM_000026.4(ADSL):c.1192-20A>G GRCh37: Chr22:40760864 GRCh38: Chr22:40364860	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 219738713.	NC_000022.11:g.40346420C>T GRCh37: Chr22:40742424 GRCh38: Chr22:40346420	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 219688714.	NM_000026.4(ADSL):c.770G>A (p.Ser257Asn) GRCh37: Chr22:40756474 GRCh38: Chr22:40360470	ADSL	S193N, S242N, S257N	Adenylosuccinate lyase deficiency	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 219617515.	NC_000022.11:g.40346389G>A GRCh37: Chr22:40742393 GRCh38: Chr22:40346389	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 219433616.	NM_000026.4(ADSL):c.248G>A (p.Arg83His) GRCh37: Chr22:40745930 GRCh38: Chr22:40349926	ADSL	R83H, R19H	Adenylosuccinate lyase deficiency	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 219149417.	NC_000022.11:g.40346406T>C GRCh37: Chr22:40742410 GRCh38: Chr22:40346406	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Dec 30, 2021)	criteria provided, single submitter
Select item 218756118.	NM_000026.4(ADSL):c.403-21_403-6del GRCh37: Chr22:40750224-40750239 GRCh38: Chr22:40354220-40354235	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Nov 3, 2022)	criteria provided, single submitter
Select item 218551519.	NM_000026.4(ADSL):c.483-19G>A GRCh37: Chr22:40754849 GRCh38: Chr22:40358845	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 218451920.	NC_000022.11:g.40346245T>C GRCh37: Chr22:40742249 GRCh38: Chr22:40346245	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 218436621.	NM_000026.4(ADSL):c.702-5C>G GRCh37: Chr22:40756401 GRCh38: Chr22:40360397	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 218076922.	NC_000022.11:g.40346350C>T GRCh37: Chr22:40742354 GRCh38: Chr22:40346350	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 217944623.	NM_000026.4(ADSL):c.403-16A>G GRCh37: Chr22:40750236 GRCh38: Chr22:40354232	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Sep 26, 2022)	criteria provided, single submitter
Select item 217522424.	NM_000026.4(ADSL):c.1286T>C (p.Val429Ala) GRCh37: Chr22:40760978 GRCh38: Chr22:40364974	ADSL	V365A, V414A, V429A	Adenylosuccinate lyase deficiency	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 216932925.	NC_000022.11:g.40346398A>G GRCh37: Chr22:40742402 GRCh38: Chr22:40346398	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 13, 2022)	criteria provided, single submitter
Select item 216665526.	NM_000026.4(ADSL):c.701+3A>G GRCh37: Chr22:40755313 GRCh38: Chr22:40359309	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 3, 2022)	criteria provided, single submitter
Select item 216293027.	NM_000026.4(ADSL):c.-37C>T GRCh37: Chr22:40742526 GRCh38: Chr22:40346522	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 216124128.	NC_000022.11:g.40346453G>C GRCh37: Chr22:40742457 GRCh38: Chr22:40346453	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 215976629.	NM_000026.4(ADSL):c.954G>A (p.Pro318=) GRCh37: Chr22:40757583 GRCh38: Chr22:40361579	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Aug 27, 2022)	criteria provided, single submitter
Select item 215946930.	NM_000026.4(ADSL):c.511C>T (p.Arg171Cys) GRCh37: Chr22:40754896 GRCh38: Chr22:40358892	ADSL	R107C, R156C, R171C	Adenylosuccinate lyase deficiency	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 215493231.	NM_000026.4(ADSL):c.445C>T (p.Arg149Ter) GRCh37: Chr22:40750294 GRCh38: Chr22:40354290	ADSL	R85, R134, R149*	Adenylosuccinate lyase deficiency	Pathogenic (Aug 11, 2022)	criteria provided, single submitter
Select item 214941132.	NC_000022.11:g.40346424G>T GRCh37: Chr22:40742428 GRCh38: Chr22:40346424	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Dec 20, 2021)	criteria provided, single submitter
Select item 214763433.	NC_000022.11:g.40346135T>G GRCh37: Chr22:40742139 GRCh38: Chr22:40346135	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 214295434.	NM_000026.4(ADSL):c.328G>A (p.Ala110Thr) GRCh37: Chr22:40746010 GRCh38: Chr22:40350006	ADSL	A46T, A110T	Adenylosuccinate lyase deficiency	Uncertain significance (Jul 17, 2022)	criteria provided, single submitter
Select item 214158935.	NC_000022.11:g.40346482C>T GRCh37: Chr22:40742486 GRCh38: Chr22:40346482	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 214033636.	NC_000022.11:g.40346243G>A GRCh37: Chr22:40742247 GRCh38: Chr22:40346243	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 213845137.	NM_000026.4(ADSL):c.802G>C (p.Asp268His) GRCh37: Chr22:40757286 GRCh38: Chr22:40361282	ADSL	D204H, D268H, D253H	Adenylosuccinate lyase deficiency	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 213558838.	NC_000022.11:g.40345514C>T GRCh37: Chr22:40741518 GRCh38: Chr22:40345514	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 213555739.	NC_000022.11:g.40345877G>A GRCh37: Chr22:40741881 GRCh38: Chr22:40345877	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 8, 2022)	criteria provided, single submitter
Select item 213498640.	NM_000026.4(ADSL):c.175G>A (p.Asp59Asn) GRCh37: Chr22:40745857 GRCh38: Chr22:40349853	ADSL	D59N	Adenylosuccinate lyase deficiency	Uncertain significance (Jun 15, 2022)	criteria provided, single submitter
Select item 213312141.	NC_000022.11:g.40345606G>A GRCh37: Chr22:40741610 GRCh38: Chr22:40345606	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 212504842.	NC_000022.11:g.40346436C>T GRCh37: Chr22:40742440 GRCh38: Chr22:40346436	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 212483743.	NC_000022.11:g.40346385C>A GRCh37: Chr22:40742389 GRCh38: Chr22:40346385	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Apr 11, 2022)	criteria provided, single submitter
Select item 212418444.	NM_000026.4(ADSL):c.227T>C (p.Met76Thr) GRCh37: Chr22:40745909 GRCh38: Chr22:40349905	ADSL	M12T, M76T	Adenylosuccinate lyase deficiency	Uncertain significance (Apr 22, 2022)	criteria provided, single submitter
Select item 212354245.	NC_000022.11:g.40346011A>G GRCh37: Chr22:40742015 GRCh38: Chr22:40346011	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Apr 12, 2022)	criteria provided, single submitter
Select item 212339146.	NC_000022.11:g.40346304G>A GRCh37: Chr22:40742308 GRCh38: Chr22:40346304	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 212324747.	NC_000022.11:g.40345926G>A GRCh37: Chr22:40741930 GRCh38: Chr22:40345926	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Apr 21, 2022)	criteria provided, single submitter
Select item 212320848.	NM_000026.4(ADSL):c.780A>C (p.Ala260=) GRCh37: Chr22:40756484 GRCh38: Chr22:40360480	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Apr 8, 2022)	criteria provided, single submitter
Select item 212206649.	NC_000022.11:g.40345714_40345716dup GRCh37: Chr22:40741715-40741716 GRCh38: Chr22:40345711-40345712	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 212145650.	NC_000022.11:g.40346200C>T GRCh37: Chr22:40742204 GRCh38: Chr22:40346200	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Apr 4, 2022)	criteria provided, single submitter
Select item 211879451.	NC_000022.11:g.40345651G>A GRCh37: Chr22:40741655 GRCh38: Chr22:40345651	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 211559552.	NM_000026.4(ADSL):c.816G>A (p.Leu272=) GRCh37: Chr22:40757300 GRCh38: Chr22:40361296	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Mar 22, 2022)	criteria provided, single submitter
Select item 211495153.	NC_000022.11:g.40346465G>A GRCh37: Chr22:40742469 GRCh38: Chr22:40346465	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211481254.	NC_000022.11:g.40345822G>A GRCh37: Chr22:40741826 GRCh38: Chr22:40345822	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Mar 20, 2022)	criteria provided, single submitter
Select item 211126455.	NM_000026.4(ADSL):c.403-7del GRCh37: Chr22:40750245 GRCh38: Chr22:40354241	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Mar 28, 2022)	criteria provided, single submitter
Select item 211085156.	NC_000022.11:g.40345513A>G GRCh37: Chr22:40741517 GRCh38: Chr22:40345513	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 210918857.	NC_000022.11:g.40345592G>C GRCh37: Chr22:40741596 GRCh38: Chr22:40345592	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 210871658.	NC_000022.11:g.40346117C>T GRCh37: Chr22:40742121 GRCh38: Chr22:40346117	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 13, 2022)	criteria provided, single submitter
Select item 210477359.	NC_000022.11:g.40345982A>C GRCh37: Chr22:40741986 GRCh38: Chr22:40345982	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 210387160.	NC_000022.11:g.40345978C>G GRCh37: Chr22:40741982 GRCh38: Chr22:40345978	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 27, 2022)	criteria provided, single submitter
Select item 210155361.	NC_000022.11:g.40345910G>A GRCh37: Chr22:40741914 GRCh38: Chr22:40345910	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 210026762.	NC_000022.11:g.40345600A>G GRCh37: Chr22:40741604 GRCh38: Chr22:40345600	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 210017763.	NC_000022.11:g.40345994G>A GRCh37: Chr22:40741998 GRCh38: Chr22:40345994	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 209889964.	NC_000022.11:g.40345709C>G GRCh37: Chr22:40741713 GRCh38: Chr22:40345709	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Mar 5, 2022)	criteria provided, single submitter
Select item 209522965.	NC_000022.11:g.40345987C>A GRCh37: Chr22:40741991 GRCh38: Chr22:40345987	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209504766.	NM_000026.4(ADSL):c.-51G>A GRCh37: Chr22:40742512 GRCh38: Chr22:40346508	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 209258867.	NM_000026.4(ADSL):c.618C>T (p.Ala206=) GRCh37: Chr22:40755003 GRCh38: Chr22:40358999	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 209085668.	NM_000026.4(ADSL):c.1102-14A>G GRCh37: Chr22:40760266 GRCh38: Chr22:40364262	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Feb 10, 2022)	criteria provided, single submitter
Select item 208892769.	NM_000026.4(ADSL):c.403-5T>C GRCh37: Chr22:40750247 GRCh38: Chr22:40354243	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Jan 21, 2022)	criteria provided, single submitter
Select item 208850970.	NM_000026.4(ADSL):c.1381T>C (p.Leu461=) GRCh37: Chr22:40762452 GRCh38: Chr22:40366448	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Feb 2, 2022)	criteria provided, single submitter
Select item 208826971.	NC_000022.11:g.40345463del GRCh37: Chr22:40741467 GRCh38: Chr22:40345463	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 7, 2022)	criteria provided, single submitter
Select item 208629872.	NM_000026.4(ADSL):c.1354C>G (p.Arg452Gly) GRCh37: Chr22:40761046 GRCh38: Chr22:40365042	ADSL	R452G, R388G, R437G	Adenylosuccinate lyase deficiency	Likely pathogenic (Oct 25, 2022)	criteria provided, single submitter
Select item 208620873.	NM_000026.4(ADSL):c.639G>T (p.Glu213Asp) GRCh37: Chr22:40755024 GRCh38: Chr22:40359020	ADSL	E213D, E198D, E149D	Adenylosuccinate lyase deficiency	Uncertain significance (Apr 10, 2022)	criteria provided, single submitter
Select item 208359874.	NC_000022.11:g.40345723C>A GRCh37: Chr22:40741727 GRCh38: Chr22:40345723	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Feb 10, 2022)	criteria provided, single submitter
Select item 207767875.	NM_000026.4(ADSL):c.792+15C>T GRCh37: Chr22:40756511 GRCh38: Chr22:40360507	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 207612776.	NM_000026.4(ADSL):c.153+7G>C GRCh37: Chr22:40742722 GRCh38: Chr22:40346718	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 207321377.	NM_000026.4(ADSL):c.527T>C (p.Ile176Thr) GRCh37: Chr22:40754912 GRCh38: Chr22:40358908	ADSL	I161T, I176T, I112T	Adenylosuccinate lyase deficiency	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 206699578.	NC_000022.11:g.40346161G>C GRCh37: Chr22:40742165 GRCh38: Chr22:40346161	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 206639579.	NM_000026.4(ADSL):c.1081G>A (p.Gly361Arg) GRCh37: Chr22:40759055 GRCh38: Chr22:40363051	ADSL	G297R, G346R, G361R	Adenylosuccinate lyase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 206546980.	NM_000026.4(ADSL):c.793-11A>G GRCh37: Chr22:40757266 GRCh38: Chr22:40361262	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 206382581.	NC_000022.11:g.40345663CT[1] GRCh37: Chr22:40741667-40741668 GRCh38: Chr22:40345663-40345664	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Dec 28, 2021)	criteria provided, single submitter
Select item 206382082.	NC_000022.11:g.40346473G>C GRCh37: Chr22:40742477 GRCh38: Chr22:40346473	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, single submitter
Select item 205624583.	NC_000022.11:g.40346434C>T GRCh37: Chr22:40742438 GRCh38: Chr22:40346434	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 205444684.	NC_000022.11:g.40346477_40346491dup GRCh37: Chr22:40742476-40742477 GRCh38: Chr22:40346472-40346473	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 205374185.	NM_000026.4(ADSL):c.543G>A (p.Met181Ile) GRCh37: Chr22:40754928 GRCh38: Chr22:40358924	ADSL	M181I, M117I, M166I	Adenylosuccinate lyase deficiency	Uncertain significance (Mar 18, 2022)	criteria provided, single submitter
Select item 205022486.	NC_000022.11:g.40346052A>C GRCh37: Chr22:40742056 GRCh38: Chr22:40346052	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 204856787.	NM_000026.4(ADSL):c.-15G>A GRCh37: Chr22:40742548 GRCh38: Chr22:40346544	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 204408388.	NC_000022.11:g.40346275G>A GRCh37: Chr22:40742279 GRCh38: Chr22:40346275	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Dec 15, 2021)	criteria provided, single submitter
Select item 204334389.	NC_000022.11:g.40346287G>A GRCh37: Chr22:40742291 GRCh38: Chr22:40346287	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 204296490.	NM_000026.4(ADSL):c.414G>A (p.Val138=) GRCh37: Chr22:40750263 GRCh38: Chr22:40354259	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Dec 22, 2021)	criteria provided, single submitter
Select item 204263691.	NM_000026.4(ADSL):c.1117A>G (p.Ile373Val) GRCh37: Chr22:40760295 GRCh38: Chr22:40364291	ADSL	I373V, I309V, I358V	Adenylosuccinate lyase deficiency	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 203559492.	NM_000026.4(ADSL):c.1005C>G (p.Ala335=) GRCh37: Chr22:40757634 GRCh38: Chr22:40361630	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 203557293.	NC_000022.11:g.40346418G>T GRCh37: Chr22:40742422 GRCh38: Chr22:40346418	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Oct 14, 2022)	criteria provided, single submitter
Select item 203431194.	NM_000026.4(ADSL):c.1192-12C>T GRCh37: Chr22:40760872 GRCh38: Chr22:40364868	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Oct 10, 2022)	criteria provided, single submitter
Select item 202797095.	NM_000026.4(ADSL):c.1096C>G (p.Pro366Ala) GRCh37: Chr22:40759070 GRCh38: Chr22:40363066	ADSL	P351A, P302A, P366A	Adenylosuccinate lyase deficiency	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 202723796.	NM_000026.4(ADSL):c.136C>T (p.Leu46=) GRCh37: Chr22:40742698 GRCh38: Chr22:40346694	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 202629597.	NM_000026.4(ADSL):c.1266C>T (p.Asp422=) GRCh37: Chr22:40760958 GRCh38: Chr22:40364954	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Aug 30, 2022)	criteria provided, single submitter
Select item 202586998.	NC_000022.11:g.40345847C>G GRCh37: Chr22:40741851 GRCh38: Chr22:40345847	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 202463599.	NM_000026.4(ADSL):c.701+7A>C GRCh37: Chr22:40755317 GRCh38: Chr22:40359313	ADSL		Adenylosuccinate lyase deficiency	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 2022213100.	NC_000022.11:g.40346457G>A GRCh37: Chr22:40742461 GRCh38: Chr22:40346457	ADSL		Adenylosuccinate lyase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter

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