ClinVar for MedGen (Select 3347) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370416	NM_000081.4(LYST):c.8378del (p.Leu2793fs)	LYST (L2793fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3366399	NC_000001.10:g.(235914663_235915304)_(235916575_235918777)del	LYST	Deletion	Chédiak-Higashi syndrome	GPathogenic
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 3358863	NM_000081.4(LYST):c.10269_10275del (p.Gly3424fs)	LYST (G3424fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
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 3247621	NC_000001.10:g.(?_235275379)_(236899040_?)del	ACTN2, ARID4B +13 more	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 3234863	NM_000081.4(LYST):c.2374_2375del (p.Asp792fs)	LYST (D792fs)	Microsatellite (frameshift variant)	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 3023660	NM_000081.4(LYST):c.4544-10T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
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 3022873	NM_000081.4(LYST):c.9107-14A>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3022270	NM_000081.4(LYST):c.2307G>A (p.Leu769=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3021102	NM_000081.4(LYST):c.10702-17T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3020945	NM_000081.4(LYST):c.1737C>T (p.Asn579=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3018815	NM_000081.4(LYST):c.8948-14T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3018104	NM_000081.4(LYST):c.2962C>A (p.Arg988=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3018086	NM_000081.4(LYST):c.193-7G>A	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3016838	NM_000081.4(LYST):c.4637C>G (p.Ala1546Gly)	LYST (A1546G)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 3016650	NM_000081.4(LYST):c.6192C>T (p.Ser2064=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3015666	NM_000081.4(LYST):c.8359-21_8359-19del	LYST	Deletion (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3015410	NM_000081.4(LYST):c.6519T>C (p.Thr2173=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3015123	NM_000081.4(LYST):c.6122-8G>A	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3015116	NM_000081.4(LYST):c.8801+9C>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3014428	NM_000081.4(LYST):c.284-5A>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3014290	NM_000081.4(LYST):c.681T>C (p.Ile227=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3013696	NM_000081.4(LYST):c.927A>G (p.Arg309=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3013281	NM_000081.4(LYST):c.9163-15A>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3013202	NM_000081.4(LYST):c.1053A>G (p.Lys351=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3012824	NM_000081.4(LYST):c.7080T>A (p.Ala2360=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3012417	NM_000081.4(LYST):c.858G>T (p.Val286=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3012185	NM_000081.4(LYST):c.10801-7A>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3012021	NM_000081.4(LYST):c.3713-12T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3011484	NM_000081.4(LYST):c.7230-16_7230-15del	LYST	Deletion (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3011225	NM_000081.4(LYST):c.10153G>T (p.Gly3385Ter)	LYST (G3385*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 3011043	NM_000081.4(LYST):c.10576A>G (p.Met3526Val)	LYST (M3526V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 3009863	NM_000081.4(LYST):c.9561-12C>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3009834	NM_000081.4(LYST):c.7791A>G (p.Lys2597=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3009211	NM_000081.4(LYST):c.6882-4T>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3009165	NM_000081.4(LYST):c.2145T>C (p.Ile715=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3008601	NM_000081.4(LYST):c.7170A>G (p.Gln2390=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3008131	NM_000081.4(LYST):c.8613-15T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3008046	NM_000081.4(LYST):c.8061G>A (p.Glu2687=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3007049	NM_000081.4(LYST):c.1377T>C (p.Asp459=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3005952	NM_000081.4(LYST):c.2364-20A>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3005861	NM_000081.4(LYST):c.10962G>A (p.Leu3654=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3005795	NM_000081.4(LYST):c.5748A>G (p.Glu1916=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3005034	NM_000081.4(LYST):c.3939+7A>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3004827	NM_000081.4(LYST):c.11268-18A>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3003760	NM_000081.4(LYST):c.1071T>C (p.Leu357=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3002890	NM_000081.4(LYST):c.3234T>G (p.Val1078=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3001583	NM_000081.4(LYST):c.9900T>C (p.Leu3300=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3000838	NM_000081.4(LYST):c.3294C>T (p.Thr1098=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3000440	NM_000081.4(LYST):c.3556-13C>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 3000168	NM_000081.4(LYST):c.7291C>T (p.Leu2431=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2999779	NM_000081.4(LYST):c.3577T>C (p.Leu1193=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2999740	NM_000081.4(LYST):c.1662C>G (p.Ala554=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2998803	NM_000081.4(LYST):c.3066G>A (p.Gln1022=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2998383	NM_000081.4(LYST):c.8613-10_8613-8del	LYST	Microsatellite (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2997926	NM_000081.4(LYST):c.10375-20T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2997739	NM_000081.4(LYST):c.5214+15T>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2996930	NM_000081.4(LYST):c.4006+12C>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2996689	NM_000081.4(LYST):c.8612+14T>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2996222	NM_000081.4(LYST):c.192+8T>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2996062	NM_000081.4(LYST):c.9628-7C>A	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2995827	NM_000081.4(LYST):c.6619T>C (p.Leu2207=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2995790	NM_000081.4(LYST):c.5937G>A (p.Gly1979=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2995431	NM_000081.4(LYST):c.6480A>G (p.Lys2160=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2994188	NM_000081.4(LYST):c.66A>G (p.Ala22=)	LYST	Single nucleotide variant (synonymous variant +1 more)	Chédiak-Higashi syndrome	GLikely benign
Select item 2994004	NM_000081.4(LYST):c.3159T>G (p.Gly1053=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2993951	NM_000081.4(LYST):c.792A>G (p.Leu264=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2991156	NM_000081.4(LYST):c.7781-6T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2989515	NM_000081.4(LYST):c.1596A>G (p.Pro532=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2989190	NM_000081.4(LYST):c.10144-6C>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2988650	NM_000081.4(LYST):c.3255C>T (p.Pro1085=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2987929	NM_000081.4(LYST):c.8358+20T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2987484	NM_000081.4(LYST):c.9801T>C (p.Ile3267=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2987253	NM_000081.4(LYST):c.9045-9T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2986788	NM_000081.4(LYST):c.5031G>A (p.Lys1677=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2986065	NM_000081.4(LYST):c.3713-11T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2985803	NM_000081.4(LYST):c.10701+8C>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2985494	NM_000081.4(LYST):c.3301_3302insCAGGATTTAAACAGAATTTCTCAACCTAAGAGAACTATGAAGGAAGATTTATTATCTTTGGCTATAA (p.Gln1101delinsProGlyPheLysGlnAsnPheSerThrTer)	LYST	Insertion (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 2985024	NM_000081.4(LYST):c.7707A>G (p.Glu2569=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2984407	NM_000081.4(LYST):c.8802-9T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2984169	NM_000081.4(LYST):c.11391C>T (p.Ser3797=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2983533	NM_000081.4(LYST):c.5505G>A (p.Leu1835=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2981369	NM_000081.4(LYST):c.9723C>T (p.Gly3241=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign

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