"Baylor Genetics"[submitter] AND "LYST"[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1323258	NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)	LYST (E3668*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 3241840	NM_000081.4(LYST):c.10883dup (p.Tyr3628Ter)	LYST (Y3628*)	Duplication (nonsense)	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 2676358	NM_000081.4(LYST):c.10812del (p.Ile3604fs)	LYST (I3604fs)	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 3241837	NM_000081.4(LYST):c.10681C>T (p.Gln3561Ter)	LYST (Q3561*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
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 2676373	NM_000081.4(LYST):c.10489C>T (p.Gln3497Ter)	LYST (Q3497*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 296355	NM_000081.4(LYST):c.10477T>C (p.Phe3493Leu)	LYST (F3493L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2676356	NM_000081.4(LYST):c.10443_10454delinsCC (p.Val3482fs)	LYST (V3482fs)	Indel (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 280681	NM_000081.4(LYST):c.10345C>T (p.Arg3449Ter)	LYST (R3449*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676351	NM_000081.4(LYST):c.10156del (p.Met3386fs)	LYST (M3386fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 65529	NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)	LOC126806063, LYST (N3376S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
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 838337	NM_000081.4(LYST):c.9874G>T (p.Glu3292Ter)	LYST (E3292*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 3241847	NM_000081.4(LYST):c.9626del (p.Lys3209fs)	LYST (K3209fs)	Deletion (frameshift 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 2676353	NM_000081.4(LYST):c.9475del (p.Asp3159fs)	LYST (D3159fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 804382	NM_000081.4(LYST):c.9333C>A (p.Tyr3111Ter)	LYST (Y3111*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676362	NM_000081.4(LYST):c.9245dup (p.Leu3082fs)	LYST (L3082fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 2676352	NM_000081.4(LYST):c.9219_9222del (p.Glu3074fs)	LYST (E3074fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2676355	NM_000081.4(LYST):c.8801+1G>A	LYST	Single nucleotide variant (splice donor 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 525159	NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)	LYST (I2886T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 3241846	NM_000081.4(LYST):c.8443G>T (p.Glu2815Ter)	LYST (E2815*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 2676341	NM_000081.4(LYST):c.8425dup (p.Glu2809fs)	LYST (E2809fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2676369	NM_000081.4(LYST):c.7781-1G>T	LYST	Single nucleotide variant (splice acceptor variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 1034047	NM_000081.4(LYST):c.7327C>T (p.Leu2443Phe)	LYST (L2443F)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2676347	NM_000081.4(LYST):c.7135dup (p.Leu2379fs)	LYST (L2379fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2676371	NM_000081.4(LYST):c.7010T>A (p.Leu2337Ter)	LYST (L2337*)	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 1921718	NM_000081.4(LYST):c.6862C>T (p.Arg2288Ter)	LYST (R2288*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2676361	NM_000081.4(LYST):c.6616C>T (p.Gln2206Ter)	LYST (Q2206*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 1028051	NM_000081.4(LYST):c.6422C>A (p.Ala2141Asp)	LYST (A2141D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 525149	NM_000081.4(LYST):c.5956C>T (p.Arg1986Ter)	LYST (R1986*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 1413390	NM_000081.4(LYST):c.5491C>T (p.Gln1831Ter)	LYST (Q1831*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 1942596	NM_000081.4(LYST):c.4863-1G>C	LYST	Single nucleotide variant (splice acceptor 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 1034045	NM_000081.4(LYST):c.4529G>C (p.Ser1510Thr)	LYST (S1510T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296397	NM_000081.4(LYST):c.4337G>A (p.Arg1446Gln)	LYST (R1446Q)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 2676340	NM_000081.4(LYST):c.4324_4325del (p.Ser1442fs)	LYST (S1442fs)	Microsatellite (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 972223	NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)	LYST (A1422V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
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 2676379	NM_000081.4(LYST):c.4116+1G>A	LYST	Single nucleotide variant (splice donor variant)	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 2676374	NM_000081.4(LYST):c.3996del (p.Asp1333fs)	LYST (D1333fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 662959	NM_000081.4(LYST):c.3601del (p.Ser1201fs)	LYST (S1201fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 1069690	NM_000081.4(LYST):c.3433del (p.His1145fs)	LYST (H1145fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 3809	NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)	LYST (R1104*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3814	NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)	LYST (Q1029*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 1452518	NM_000081.4(LYST):c.2962C>T (p.Arg988Ter)	LYST (R988*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 571664	NM_000081.4(LYST):c.2413G>T (p.Glu805Ter)	LYST (E805*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2676372	NM_000081.4(LYST):c.2275del (p.Ser759fs)	LYST (S759fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 296424	NM_000081.4(LYST):c.2258G>A (p.Ser753Asn)	LYST (S753N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2676349	NM_000081.4(LYST):c.2063G>A (p.Trp688Ter)	LYST (W688*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 2716351	NM_000081.4(LYST):c.2016C>A (p.Tyr672Ter)	LYST (Y672*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
Select item 2676344	NM_000081.4(LYST):c.2015dup (p.Tyr672Ter)	LYST (Y672*)	Duplication (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 3241841	NM_000081.4(LYST):c.1868del (p.Gln622_Leu623insTer)	LYST	Deletion (nonsense)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 571499	NM_000081.4(LYST):c.1610C>T (p.Ala537Val)	LYST (A537V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 65533	NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)	LYST (R514*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
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 620096	NM_000081.4(LYST):c.1507C>T (p.Arg503Ter)	LYST (R503*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2676359	NM_000081.4(LYST):c.1050del (p.Asn352fs)	LYST (N352fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3241849	NM_000081.4(LYST):c.1019del (p.Ser340fs)	LYST (S340fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 1076173	NM_000081.4(LYST):c.985C>T (p.Arg329Ter)	LYST (R329*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2022897	NM_000081.4(LYST):c.192+1G>A	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GPathogenic/Likely 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 2676338	NM_000081.4(LYST):c.98_105del (p.Glu33fs)	LYST (E33fs)	Deletion (frameshift variant +1 more)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 625534	GRCh37/hg19 1q42.2-43(chr1:234546246-238716872)	ACTN2, ARID4B +20 more	Copy number loss	not provided	GLikely pathogenic
Select item 625533	GRCh37/hg19 1q42.3-43(chr1:234742890-239475761)	ACTN2, ARID4B +19 more	Copy number loss	not provided	GPathogenic

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Items: 83