ClinVar for MedGen (Select 3347) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25000571.	NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu) GRCh37: Chr1:235926131 GRCh38: Chr1:235762831	LYST	K2048E	Chédiak-Higashi syndrome	Uncertain significance (Apr 29, 2022)	criteria provided, single submitter
Select item 24412752.	NM_000081.4(LYST):c.2437del (p.Arg813fs) GRCh37: Chr1:235969999 GRCh38: Chr1:235806699	LYST	R813fs	Chédiak-Higashi syndrome	Likely pathogenic (Nov 28, 2022)	criteria provided, single submitter
Select item 24335753.	NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg) GRCh37: Chr1:235938239 GRCh38: Chr1:235774939	LYST	C1870R	Chédiak-Higashi syndrome	Uncertain significance (Jan 23, 2020)	criteria provided, single submitter
Select item 24335744.	NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln) GRCh37: Chr1:235897871 GRCh38: Chr1:235734571	LYST	L2816Q	Chédiak-Higashi syndrome	Uncertain significance (Dec 16, 2019)	criteria provided, single submitter
Select item 24335735.	NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs) GRCh37: Chr1:235872594-235872595 GRCh38: Chr1:235709294-235709295	LOC126806063, LYST	V3314fs	Chédiak-Higashi syndrome	Uncertain significance (Feb 21, 2019)	criteria provided, single submitter
Select item 24335706.	NM_000081.4(LYST):c.9944G>A (p.Arg3315His) GRCh37: Chr1:235872590 GRCh38: Chr1:235709290	LOC126806063, LYST	R3315H	Chédiak-Higashi syndrome	Uncertain significance (Jun 26, 2019)	criteria provided, single submitter
Select item 24335697.	NM_000081.4(LYST):c.1412C>T (p.Ala471Val) GRCh37: Chr1:235972706 GRCh38: Chr1:235809406	LYST	A471V	Chédiak-Higashi syndrome	Uncertain significance (Dec 10, 2019)	criteria provided, single submitter
Select item 24335688.	NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe) GRCh37: Chr1:235956879 GRCh38: Chr1:235793579	LYST	S1347F	Chédiak-Higashi syndrome	Uncertain significance (Nov 25, 2019)	criteria provided, single submitter
Select item 24335669.	NM_000081.4(LYST):c.1888C>G (p.Pro630Ala) GRCh37: Chr1:235972230 GRCh38: Chr1:235808930	LYST	P630A	Chédiak-Higashi syndrome	Uncertain significance (Nov 5, 2019)	criteria provided, single submitter
Select item 243356510.	NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys) GRCh37: Chr1:235915313 GRCh38: Chr1:235752013	LYST	R2540K	Inborn genetic diseases, Chédiak-Higashi syndrome	Uncertain significance (May 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243356411.	NM_000081.4(LYST):c.1746A>G (p.Ile582Met) GRCh37: Chr1:235972372 GRCh38: Chr1:235809072	LYST	I582M	Chédiak-Higashi syndrome	Uncertain significance (Jun 10, 2019)	criteria provided, single submitter
Select item 243356312.	NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp) GRCh37: Chr1:235872596 GRCh38: Chr1:235709296	LYST, LOC126806063	G3313D	Chédiak-Higashi syndrome	Uncertain significance (Feb 21, 2019)	criteria provided, single submitter
Select item 243356113.	NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp) GRCh37: Chr1:235966293 GRCh38: Chr1:235802993	LYST	C1209W	Chédiak-Higashi syndrome	Uncertain significance (Mar 5, 2019)	criteria provided, single submitter
Select item 243356014.	NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe) GRCh37: Chr1:235922485 GRCh38: Chr1:235759185	LYST	C2223F	Chédiak-Higashi syndrome	Uncertain significance (Jan 25, 2019)	criteria provided, single submitter
Select item 243355815.	NM_000081.4(LYST):c.310A>G (p.Ile104Val) GRCh37: Chr1:235973808 GRCh38: Chr1:235810508	LYST	I104V	Chédiak-Higashi syndrome	Uncertain significance (Dec 27, 2019)	criteria provided, single submitter
Select item 243355716.	NM_000081.4(LYST):c.737T>C (p.Val246Ala) GRCh37: Chr1:235973381 GRCh38: Chr1:235810081	LYST	V246A	Chédiak-Higashi syndrome	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 243355617.	NM_000081.4(LYST):c.6158T>C (p.Met2053Thr) GRCh37: Chr1:235926115 GRCh38: Chr1:235762815	LYST	M2053T	Chédiak-Higashi syndrome	Uncertain significance (Oct 1, 2019)	criteria provided, single submitter
Select item 243355518.	NM_000081.4(LYST):c.2642C>T (p.Ala881Val) GRCh37: Chr1:235969794 GRCh38: Chr1:235806494	LYST	A881V	Chédiak-Higashi syndrome	Uncertain significance (Aug 30, 2019)	criteria provided, single submitter
Select item 243355419.	NM_000081.4(LYST):c.4544-3T>C GRCh37: Chr1:235952148 GRCh38: Chr1:235788848	LYST		Chédiak-Higashi syndrome	Uncertain significance (Jul 15, 2019)	criteria provided, single submitter
Select item 243355220.	NM_000081.4(LYST):c.5349C>G (p.Ile1783Met) GRCh37: Chr1:235940474 GRCh38: Chr1:235777174	LYST	I1783M	Chédiak-Higashi syndrome	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 243355021.	NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla) GRCh37: Chr1:235969691 GRCh38: Chr1:235806391	LYST		Chédiak-Higashi syndrome	Uncertain significance (Aug 14, 2019)	criteria provided, single submitter
Select item 243354922.	NM_000081.4(LYST):c.9233G>A (p.Arg3078His) GRCh37: Chr1:235887410 GRCh38: Chr1:235724110	LYST	R3078H	Chédiak-Higashi syndrome, not provided	Uncertain significance (Jan 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 243354823.	NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile) GRCh37: Chr1:235937290 GRCh38: Chr1:235773990	LYST	T1879I	Chédiak-Higashi syndrome	Uncertain significance (Jun 20, 2019)	criteria provided, single submitter
Select item 243354724.	NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys) GRCh37: Chr1:235922678 GRCh38: Chr1:235759378	LYST	G2159C	Chédiak-Higashi syndrome	Uncertain significance (Apr 18, 2019)	criteria provided, single submitter
Select item 243354625.	NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile) GRCh37: Chr1:235840804 GRCh38: Chr1:235677504	LYST	T3639I	Chédiak-Higashi syndrome	Uncertain significance (Apr 3, 2020)	criteria provided, single submitter
Select item 243354526.	NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg) GRCh37: Chr1:235856651 GRCh38: Chr1:235693351	LYST	Q3567R	Chédiak-Higashi syndrome	Uncertain significance (Jan 3, 2020)	criteria provided, single submitter
Select item 243354427.	NM_000081.4(LYST):c.3142A>G (p.Ile1048Val) GRCh37: Chr1:235969294 GRCh38: Chr1:235805994	LYST	I1048V	Chédiak-Higashi syndrome	Uncertain significance (Aug 30, 2019)	criteria provided, single submitter
Select item 243354328.	NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg) GRCh37: Chr1:235969170 GRCh38: Chr1:235805870	LYST	K1089R	Chédiak-Higashi syndrome	Uncertain significance (Aug 28, 2019)	criteria provided, single submitter
Select item 243354229.	NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly) GRCh37: Chr1:235922605 GRCh38: Chr1:235759305	LYST	A2183G	Chédiak-Higashi syndrome	Uncertain significance (Jun 17, 2019)	criteria provided, single submitter
Select item 242231630.	NC_000001.10:g.(?_235826240)_(235945407_?)dup GRCh37: Chr1:235826240-235945407	LYST		Chédiak-Higashi syndrome	Uncertain significance (Nov 30, 2021)	criteria provided, single submitter
Select item 242231531.	NC_000001.10:g.(?_235850229)_(235860592_?)del GRCh37: Chr1:235850229-235860592	LYST		Chédiak-Higashi syndrome	Likely pathogenic (Jan 4, 2022)	criteria provided, single submitter
Select item 242231332.	NC_000001.10:g.(?_235827745)_(235827941_?)del GRCh37: Chr1:235827745-235827941	LYST		Chédiak-Higashi syndrome	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 242214033.	NM_000081.4(LYST):c.3939+8A>T GRCh37: Chr1:235964163 GRCh38: Chr1:235800863	LYST		Chédiak-Higashi syndrome	Likely benign (Dec 14, 2021)	criteria provided, single submitter
Select item 242093034.	NM_000081.4(LYST):c.2802C>T (p.Ser934=) GRCh37: Chr1:235969634 GRCh38: Chr1:235806334	LYST		Chédiak-Higashi syndrome	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 242010535.	NM_000081.4(LYST):c.10565-20T>C GRCh37: Chr1:235856806 GRCh38: Chr1:235693506	LYST		Chédiak-Higashi syndrome	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 242009936.	NM_000081.4(LYST):c.4298G>A (p.Arg1433Gln) GRCh37: Chr1:235955244 GRCh38: Chr1:235791944	LYST	R1433Q	Chédiak-Higashi syndrome	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 241960237.	NM_000081.4(LYST):c.1013A>G (p.Asp338Gly) GRCh37: Chr1:235973105 GRCh38: Chr1:235809805	LYST	D338G	Chédiak-Higashi syndrome	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 241901738.	NM_000081.4(LYST):c.11195+11T>C GRCh37: Chr1:235827754 GRCh38: Chr1:235664454	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 241886339.	NM_000081.4(LYST):c.6676C>T (p.Arg2226Ter) GRCh37: Chr1:235922477 GRCh38: Chr1:235759177	LYST	R2226*	Chédiak-Higashi syndrome	Pathogenic (Feb 22, 2022)	criteria provided, single submitter
Select item 241886240.	NM_000081.4(LYST):c.8080C>T (p.Gln2694Ter) GRCh37: Chr1:235907350 GRCh38: Chr1:235744050	LYST	Q2694*	Chédiak-Higashi syndrome	Pathogenic (Dec 6, 2021)	criteria provided, single submitter
Select item 241831841.	NM_000081.4(LYST):c.10691A>G (p.Gln3564Arg) GRCh37: Chr1:235856660 GRCh38: Chr1:235693360	LYST	Q3564R	Chédiak-Higashi syndrome	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 241699442.	NM_000081.4(LYST):c.4338G>A (p.Arg1446=) GRCh37: Chr1:235955204 GRCh38: Chr1:235791904	LYST		Chédiak-Higashi syndrome	Likely benign (Jul 22, 2020)	criteria provided, single submitter
Select item 241635843.	NM_000081.4(LYST):c.5247T>C (p.Cys1749=) GRCh37: Chr1:235940576 GRCh38: Chr1:235777276	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 241521144.	NM_000081.4(LYST):c.7454A>G (p.Glu2485Gly) GRCh37: Chr1:235916350 GRCh38: Chr1:235753050	LYST	E2485G	Chédiak-Higashi syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 241321045.	NM_000081.4(LYST):c.2529C>T (p.Asp843=) GRCh37: Chr1:235969907 GRCh38: Chr1:235806607	LYST		Chédiak-Higashi syndrome	Likely benign (Aug 5, 2022)	criteria provided, single submitter
Select item 223011346.	NM_000081.4(LYST):c.1880A>C (p.Glu627Ala) GRCh37: Chr1:235972238 GRCh38: Chr1:235808938	LYST	E627A	Inborn genetic diseases, Chédiak-Higashi syndrome	Uncertain significance (May 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 220300347.	NM_000081.4(LYST):c.7786C>T (p.Arg2596Ter) GRCh37: Chr1:235909822 GRCh38: Chr1:235746522	LYST	R2596*	Chédiak-Higashi syndrome	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 220243648.	NM_000081.4(LYST):c.7003A>G (p.Thr2335Ala) GRCh37: Chr1:235920637 GRCh38: Chr1:235757337	LYST	T2335A	Chédiak-Higashi syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 220243549.	NM_000081.4(LYST):c.7756G>C (p.Val2586Leu) GRCh37: Chr1:235914534 GRCh38: Chr1:235751234	LYST	V2586L	Chédiak-Higashi syndrome	Uncertain significance (Aug 3, 2022)	criteria provided, single submitter
Select item 220243450.	NM_000081.4(LYST):c.10743T>C (p.Phe3581=) GRCh37: Chr1:235850306 GRCh38: Chr1:235687006	LYST		Chédiak-Higashi syndrome	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 220200851.	NM_000081.4(LYST):c.3940-9A>G GRCh37: Chr1:235963695 GRCh38: Chr1:235800395	LYST		Chédiak-Higashi syndrome	Likely benign (Jan 21, 2022)	criteria provided, single submitter
Select item 220183752.	NM_000081.4(LYST):c.620G>A (p.Arg207His) GRCh37: Chr1:235973498 GRCh38: Chr1:235810198	LYST	R207H	Chédiak-Higashi syndrome	Uncertain significance (Jul 29, 2022)	criteria provided, single submitter
Select item 220168853.	NM_000081.4(LYST):c.6545C>T (p.Ser2182Leu) GRCh37: Chr1:235922608 GRCh38: Chr1:235759308	LYST	S2182L	Chédiak-Higashi syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 220160154.	NM_000081.4(LYST):c.7678A>G (p.Ile2560Val) GRCh37: Chr1:235914612 GRCh38: Chr1:235751312	LYST	I2560V	Chédiak-Higashi syndrome	Uncertain significance (Jun 27, 2022)	criteria provided, single submitter
Select item 220146155.	NM_000081.4(LYST):c.6380G>A (p.Cys2127Tyr) GRCh37: Chr1:235922773 GRCh38: Chr1:235759473	LYST	C2127Y	Chédiak-Higashi syndrome	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 220098456.	NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg) GRCh37: Chr1:235967851 GRCh38: Chr1:235804551	LYST	G1170R	Chédiak-Higashi syndrome	Uncertain significance (Mar 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 220097157.	NM_000081.4(LYST):c.367C>T (p.His123Tyr) GRCh37: Chr1:235973751 GRCh38: Chr1:235810451	LYST	H123Y	Chédiak-Higashi syndrome	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 220045058.	NM_000081.4(LYST):c.5461-15C>A GRCh37: Chr1:235938401 GRCh38: Chr1:235775101	LYST		Chédiak-Higashi syndrome	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 220038159.	NM_000081.4(LYST):c.292C>T (p.Leu98=) GRCh37: Chr1:235973826 GRCh38: Chr1:235810526	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 219952760.	NM_000081.4(LYST):c.9169C>A (p.Gln3057Lys) GRCh37: Chr1:235887474 GRCh38: Chr1:235724174	LYST	Q3057K	Chédiak-Higashi syndrome	Uncertain significance (Feb 20, 2022)	criteria provided, single submitter
Select item 219952661.	NM_000081.4(LYST):c.4873G>A (p.Val1625Ile) GRCh37: Chr1:235945377 GRCh38: Chr1:235782077	LYST	V1625I	Chédiak-Higashi syndrome	Uncertain significance (Aug 20, 2022)	criteria provided, single submitter
Select item 219939462.	NM_000081.4(LYST):c.10702-19G>T GRCh37: Chr1:235850366 GRCh38: Chr1:235687066	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 219939163.	NM_000081.4(LYST):c.1446T>C (p.Thr482=) GRCh37: Chr1:235972672 GRCh38: Chr1:235809372	LYST		Chédiak-Higashi syndrome	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 219905264.	NM_000081.4(LYST):c.9347C>T (p.Thr3116Ile) GRCh37: Chr1:235884174 GRCh38: Chr1:235720874	LYST	T3116I	Chédiak-Higashi syndrome	Uncertain significance (Mar 4, 2022)	criteria provided, single submitter
Select item 219859065.	NM_000081.4(LYST):c.434G>A (p.Arg145Gln) GRCh37: Chr1:235973684 GRCh38: Chr1:235810384	LYST	R145Q	Chédiak-Higashi syndrome	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 219836266.	NM_000081.4(LYST):c.937G>A (p.Ala313Thr) GRCh37: Chr1:235973181 GRCh38: Chr1:235809881	LYST	A313T	Chédiak-Higashi syndrome	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 219807567.	NM_000081.4(LYST):c.8208T>C (p.Cys2736=) GRCh37: Chr1:235904872 GRCh38: Chr1:235741572	LYST		Chédiak-Higashi syndrome	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 219799768.	NM_000081.4(LYST):c.7489G>A (p.Ala2497Thr) GRCh37: Chr1:235915443 GRCh38: Chr1:235752143	LYST	A2497T	Chédiak-Higashi syndrome	Uncertain significance (Oct 2, 2022)	criteria provided, single submitter
Select item 219792869.	NM_000081.4(LYST):c.10941-8dup GRCh37: Chr1:235840495-235840496 GRCh38: Chr1:235677195-235677196	LYST		Chédiak-Higashi syndrome	Benign (Feb 5, 2022)	criteria provided, single submitter
Select item 219784470.	NM_000081.4(LYST):c.6089A>G (p.Asn2030Ser) GRCh37: Chr1:235929411 GRCh38: Chr1:235766111	LYST	N2030S	Chédiak-Higashi syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 219776971.	NM_000081.4(LYST):c.2972A>G (p.His991Arg) GRCh37: Chr1:235969464 GRCh38: Chr1:235806164	LYST	H991R	Chédiak-Higashi syndrome	Uncertain significance (Mar 21, 2022)	criteria provided, single submitter
Select item 219773772.	NM_000081.4(LYST):c.10702-18_10702-15del GRCh37: Chr1:235850362-235850365 GRCh38: Chr1:235687062-235687065	LYST		Chédiak-Higashi syndrome	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 219764873.	NM_000081.4(LYST):c.8392T>C (p.Leu2798=) GRCh37: Chr1:235897926 GRCh38: Chr1:235734626	LYST		Chédiak-Higashi syndrome	Likely benign (Oct 4, 2022)	criteria provided, single submitter
Select item 219705674.	NM_000081.4(LYST):c.5353T>C (p.Leu1785=) GRCh37: Chr1:235940470 GRCh38: Chr1:235777170	LYST		Chédiak-Higashi syndrome	Likely benign (Oct 2, 2022)	criteria provided, single submitter
Select item 219690275.	NM_000081.4(LYST):c.3267G>A (p.Lys1089=) GRCh37: Chr1:235969169 GRCh38: Chr1:235805869	LYST		Chédiak-Higashi syndrome	Likely benign (Mar 31, 2022)	criteria provided, single submitter
Select item 219689676.	NM_000081.4(LYST):c.11168C>T (p.Ala3723Val) GRCh37: Chr1:235827792 GRCh38: Chr1:235664492	LYST	A3723V	Chédiak-Higashi syndrome	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 219685677.	NM_000081.4(LYST):c.74A>G (p.Gln25Arg) GRCh37: Chr1:235993644 GRCh38: Chr1:235830344	LYST	Q25R	Chédiak-Higashi syndrome	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 219679578.	NM_000081.4(LYST):c.3544A>G (p.Met1182Val) GRCh37: Chr1:235967815 GRCh38: Chr1:235804515	LYST	M1182V	Chédiak-Higashi syndrome	Uncertain significance (Jul 28, 2022)	criteria provided, single submitter
Select item 219649679.	NM_000081.4(LYST):c.6882-19T>C GRCh37: Chr1:235920777 GRCh38: Chr1:235757477	LYST		Chédiak-Higashi syndrome	Likely benign (Aug 24, 2022)	criteria provided, single submitter
Select item 219642880.	NM_000081.4(LYST):c.11038+17C>T GRCh37: Chr1:235840374 GRCh38: Chr1:235677074	LYST		Chédiak-Higashi syndrome	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 219636381.	NM_000081.4(LYST):c.8306A>G (p.His2769Arg) GRCh37: Chr1:235904774 GRCh38: Chr1:235741474	LYST	H2769R	Chédiak-Higashi syndrome	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 219629982.	NM_000081.4(LYST):c.4235A>G (p.Gln1412Arg) GRCh37: Chr1:235955307 GRCh38: Chr1:235792007	LYST	Q1412R	Chédiak-Higashi syndrome	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 219628283.	NM_000081.4(LYST):c.1020T>C (p.Ser340=) GRCh37: Chr1:235973098 GRCh38: Chr1:235809798	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 24, 2022)	criteria provided, single submitter
Select item 219594584.	NM_000081.4(LYST):c.2531T>G (p.Ile844Ser) GRCh37: Chr1:235969905 GRCh38: Chr1:235806605	LYST	I844S	Chédiak-Higashi syndrome	Uncertain significance (Mar 16, 2022)	criteria provided, single submitter
Select item 219593085.	NM_000081.4(LYST):c.10924A>C (p.Ile3642Leu) GRCh37: Chr1:235840796 GRCh38: Chr1:235677496	LYST	I3642L	Chédiak-Higashi syndrome	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 219538186.	NM_000081.4(LYST):c.2554G>A (p.Val852Ile) GRCh37: Chr1:235969882 GRCh38: Chr1:235806582	LYST	V852I	Chédiak-Higashi syndrome	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 219448387.	NM_000081.4(LYST):c.8311C>A (p.Pro2771Thr) GRCh37: Chr1:235904769 GRCh38: Chr1:235741469	LYST	P2771T	Chédiak-Higashi syndrome	Uncertain significance (Mar 23, 2022)	criteria provided, single submitter
Select item 219443688.	NM_000081.4(LYST):c.10386A>G (p.Ser3462=) GRCh37: Chr1:235860561 GRCh38: Chr1:235697261	LYST		Chédiak-Higashi syndrome	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 219384589.	NM_000081.4(LYST):c.9776C>T (p.Ala3259Val) GRCh37: Chr1:235878509 GRCh38: Chr1:235715209	LYST	A3259V	Chédiak-Higashi syndrome	Uncertain significance (Jan 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 219371990.	NM_000081.4(LYST):c.7229+8T>C GRCh37: Chr1:235918770 GRCh38: Chr1:235755470	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 9, 2022)	criteria provided, single submitter
Select item 219361691.	NM_000081.4(LYST):c.7871G>A (p.Arg2624Gln) GRCh37: Chr1:235909737 GRCh38: Chr1:235746437	LYST	R2624Q	Chédiak-Higashi syndrome	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 219349392.	NM_000081.4(LYST):c.6493A>G (p.Ile2165Val) GRCh37: Chr1:235922660 GRCh38: Chr1:235759360	LYST	I2165V	Chédiak-Higashi syndrome	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 219342093.	NM_000081.4(LYST):c.6229G>A (p.Gly2077Ser) GRCh37: Chr1:235926044 GRCh38: Chr1:235762744	LYST	G2077S	Chédiak-Higashi syndrome	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 219303094.	NM_000081.4(LYST):c.10143+14_10143+15del GRCh37: Chr1:235872376-235872377 GRCh38: Chr1:235709076-235709077	LOC126806063, LYST		Chédiak-Higashi syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 219218595.	NM_000081.4(LYST):c.1580A>G (p.Gln527Arg) GRCh37: Chr1:235972538 GRCh38: Chr1:235809238	LYST	Q527R	Chédiak-Higashi syndrome	Uncertain significance (Dec 13, 2021)	criteria provided, single submitter
Select item 219170596.	NM_000081.4(LYST):c.11038+18C>A GRCh37: Chr1:235840373 GRCh38: Chr1:235677073	LYST		Chédiak-Higashi syndrome	Likely benign (Oct 20, 2022)	criteria provided, single submitter
Select item 219022497.	NM_000081.4(LYST):c.2307G>T (p.Leu769Phe) GRCh37: Chr1:235971811 GRCh38: Chr1:235808511	LYST	L769F	Chédiak-Higashi syndrome	Uncertain significance (May 26, 2022)	criteria provided, single submitter
Select item 219004598.	NM_000081.4(LYST):c.9785-5T>A GRCh37: Chr1:235875502 GRCh38: Chr1:235712202	LYST		Chédiak-Higashi syndrome	Likely benign (Sep 30, 2022)	criteria provided, single submitter
Select item 218996599.	NM_000081.4(LYST):c.4982T>C (p.Leu1661Ser) GRCh37: Chr1:235945268 GRCh38: Chr1:235781968	LYST	L1661S	Chédiak-Higashi syndrome	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 2189909100.	NM_000081.4(LYST):c.3754A>G (p.Ser1252Gly) GRCh37: Chr1:235964356 GRCh38: Chr1:235801056	LYST	S1252G	Chédiak-Higashi syndrome	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter

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