Related gene-specific medical variations for Gene (Select 1130) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362426	NM_000081.4(LYST):c.1860G>C (p.Leu620Phe)	LYST (L620F)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 3247626	NC_000001.10:g.(?_235850329)_(235858090_?)del	LYST	Deletion	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3247625	NC_000001.10:g.(?_235840371)_(235860592_?)del	LYST	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3247623	NC_000001.10:g.(?_235850229)_(235872628_?)del	LYST	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3247622	NC_000001.10:g.(?_235937122)_(235944375_?)del	LYST	Deletion	Chédiak-Higashi syndrome	GPathogenic
Select item 3241849	NM_000081.4(LYST):c.1019del (p.Ser340fs)	LYST (S340fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241848	NM_000081.4(LYST):c.1518T>G (p.Tyr506Ter)	LYST (Y506*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241847	NM_000081.4(LYST):c.9626del (p.Lys3209fs)	LYST (K3209fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241846	NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)	LYST (E2815*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241845	NM_000081.4(LYST):c.7045C>T (p.Gln2349Ter)	LYST (Q2349*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241844	NM_000081.4(LYST):c.4117-2A>G	LYST	Single nucleotide variant (splice acceptor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241842	NM_000081.4(LYST):c.8613-2A>T	LYST	Single nucleotide variant (splice acceptor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241841	NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)	LYST	Deletion (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241840	NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)	LYST (Y3628*)	Duplication (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241839	NM_000081.4(LYST):c.484C>T (p.Gln162Ter)	LYST (Q162*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241837	NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)	LYST (Q3561*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3068140	NM_000081.4(LYST):c.7291del (p.Leu2431fs)	LYST (L2431fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3022894	NM_000081.4(LYST):c.10029G>A (p.Gln3343=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2967267	NM_000081.4(LYST):c.10056G>A (p.Gln3352=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2965146	NM_000081.4(LYST):c.10035A>G (p.Leu3345=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2879511	NM_000081.4(LYST):c.10131T>A (p.Val3377=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2865176	NM_000081.4(LYST):c.10078T>C (p.Leu3360=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2854347	NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)	LOC126806063, LYST (Q3343*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 2843800	NM_000081.4(LYST):c.9926-11T>A	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2820247	NM_000081.4(LYST):c.10143+20C>G	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2769287	NM_000081.4(LYST):c.10083del (p.Phe3362fs)	LOC126806063, LYST (F3362fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 2768881	NM_000081.4(LYST):c.9961dup (p.Val3321fs)	LOC126806063, LYST (V3321fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 2768572	NM_000081.4(LYST):c.9972C>T (p.Val3324=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2765928	NM_000081.4(LYST):c.9930T>C (p.Phe3310=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2759103	NM_000081.4(LYST):c.9942G>C (p.Val3314=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2755772	NM_000081.4(LYST):c.9960G>C (p.Arg3320=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2731899	NM_000081.4(LYST):c.10089G>T (p.Gly3363=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2726124	NM_000081.4(LYST):c.9926-17T>C	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2690640	NM_000081.4(LYST):c.3202C>T (p.Gln1068Ter)	LYST (Q1068*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676380	NM_000081.4(LYST):c.6882-1G>T	LYST	Single nucleotide variant (splice acceptor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676379	NM_000081.4(LYST):c.4116+1G>A	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676378	NM_000081.4(LYST):c.9624C>A (p.Tyr3208Ter)	LYST (Y3208*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676376	NM_000081.4(LYST):c.9620_9621dup (p.Tyr3208fs)	LYST (Y3208fs)	Microsatellite (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676375	NM_000081.4(LYST):c.10411dup (p.Glu3471fs)	LYST (E3471fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676373	NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)	LYST (Q3497*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676372	NM_000081.4(LYST):c.2275del (p.Ser759fs)	LYST (S759fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676371	NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)	LYST (L2337*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676370	NM_000081.4(LYST):c.6050T>G (p.Leu2017Ter)	LYST (L2017*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676369	NM_000081.4(LYST):c.7781-1G>T	LYST	Single nucleotide variant (splice acceptor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676368	NM_000081.4(LYST):c.6720_6721del (p.His2240fs)	LYST (H2240fs)	Microsatellite (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676366	NM_000081.4(LYST):c.2341_2342del (p.Leu781fs)	LYST (L781fs)	Microsatellite (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676365	NM_000081.4(LYST):c.8768G>A (p.Trp2923Ter)	LYST (W2923*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676364	NM_000081.4(LYST):c.4969G>T (p.Glu1657Ter)	LYST (E1657*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676363	NM_000081.4(LYST):c.8358+2T>G	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676361	NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)	LYST (Q2206*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676360	NM_000081.4(LYST):c.9200G>A (p.Trp3067Ter)	LYST (W3067*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676359	NM_000081.4(LYST):c.1050del (p.Asn352fs)	LYST (N352fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676358	NM_000081.4(LYST):c.10812del (p.Ile3604fs)	LYST (I3604fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676357	NM_000081.4(LYST):c.9784+1G>T	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676356	NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)	LYST (V3482fs)	Indel (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676355	NM_000081.4(LYST):c.8801+1G>A	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676354	NM_000081.4(LYST):c.5772G>A (p.Trp1924Ter)	LYST (W1924*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676353	NM_000081.4(LYST):c.9475del (p.Asp3159fs)	LYST (D3159fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676351	NM_000081.4(LYST):c.10156del (p.Met3386fs)	LYST (M3386fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676350	NM_000081.4(LYST):c.10663_10691dup (p.Gln3564delinsHisLeuGlnTer)	LYST	Duplication (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676349	NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)	LYST (W688*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 2676348	NM_000081.4(LYST):c.10643T>A (p.Leu3548Ter)	LYST (L3548*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676346	NM_000081.4(LYST):c.4006+2T>C	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676343	NM_000081.4(LYST):c.10813G>T (p.Glu3605Ter)	LYST (E3605*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676342	NM_000081.4(LYST):c.124del (p.Gly43fs)	LYST (G43fs)	Deletion (frameshift variant +1 more)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676340	NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)	LYST (S1442fs)	Microsatellite (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676339	NM_000081.4(LYST):c.4858C>T (p.Gln1620Ter)	LYST (Q1620*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676338	NM_000081.4(LYST):c.98_105del (p.Glu33fs)	LYST (E33fs)	Deletion (frameshift variant +1 more)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676337	NM_000081.4(LYST):c.9988del (p.Ala3330fs)	LOC126806063, LYST (A3330fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 2441275	NM_000081.4(LYST):c.2437del (p.Arg813fs)	LYST (R813fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2433575	NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)	LYST (C1870R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433574	NM_000081.4(LYST):c.8447T>A (p.Leu2816Gln)	LYST (L2816Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433573	NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)	LOC126806063, LYST (V3314fs)	Insertion (frameshift variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433570	NM_000081.4(LYST):c.9944G>A (p.Arg3315His)	LOC126806063, LYST (R3315H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433569	NM_000081.4(LYST):c.1412C>T (p.Ala471Val)	LYST (A471V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433568	NM_000081.4(LYST):c.4040C>T (p.Ser1347Phe)	LYST (S1347F)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433566	NM_000081.4(LYST):c.1888C>G (p.Pro630Ala)	LYST (P630A)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433564	NM_000081.4(LYST):c.1746A>G (p.Ile582Met)	LYST (I582M)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433563	NM_000081.4(LYST):c.9938G>A (p.Gly3313Asp)	LOC126806063, LYST (G3313D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433561	NM_000081.4(LYST):c.3627T>G (p.Cys1209Trp)	LYST (C1209W)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433560	NM_000081.4(LYST):c.6668G>T (p.Cys2223Phe)	LYST (C2223F)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433558	NM_000081.4(LYST):c.310A>G (p.Ile104Val)	LYST (I104V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433557	NM_000081.4(LYST):c.737T>C (p.Val246Ala)	LYST (V246A)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433556	NM_000081.4(LYST):c.6158T>C (p.Met2053Thr)	LYST (M2053T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433555	NM_000081.4(LYST):c.2642C>T (p.Ala881Val)	LYST (A881V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433554	NM_000081.4(LYST):c.4544-3T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433552	NM_000081.4(LYST):c.5349C>G (p.Ile1783Met)	LYST (I1783M)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433550	NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)	LYST	Indel (inframe_indel +1 more)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433548	NM_000081.4(LYST):c.5636C>T (p.Thr1879Ile)	LYST (T1879I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433547	NM_000081.4(LYST):c.6475G>T (p.Gly2159Cys)	LYST (G2159C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433546	NM_000081.4(LYST):c.10916C>T (p.Thr3639Ile)	LYST (T3639I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433544	NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)	LYST (I1048V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433543	NM_000081.4(LYST):c.3266A>G (p.Lys1089Arg)	LYST (K1089R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433542	NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)	LYST (A2183G)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2331921	NM_000081.4(LYST):c.9988G>A (p.Ala3330Thr)	LOC126806063, LYST (A3330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193030	NM_000081.4(LYST):c.10143+14_10143+15del	LOC126806063, LYST	Deletion (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2146173	NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)	LOC126806063, LYST (I3354fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2124244	NM_000081.4(LYST):c.10143+7G>A	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2109479	NM_000081.4(LYST):c.10002T>C (p.Pro3334=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2104357	NM_000081.4(LYST):c.10060A>G (p.Ile3354Val)	LOC126806063, LYST (I3354V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance

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