"GeneDx"[submitter] AND "LYST"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 451194	NM_000081.4(LYST):c.11354G>A (p.Arg3785His)	LYST (R3785H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 403065	NM_000081.4(LYST):c.11268-5del	LYST	Deletion (intron variant)	Chédiak-Higashi syndrome +3 more	GBenign/Likely benign
Select item 296344	NM_000081.4(LYST):c.11268-6_11268-5del	LYST	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1283354	NM_000081.4(LYST):c.11268-205C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276755	NM_000081.4(LYST):c.11196-88A>G	LYST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 684368	NM_000081.4(LYST):c.11195+124G>A	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 946076	NM_000081.4(LYST):c.11116T>A (p.Cys3706Ser)	LYST (C3706S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1304386	NM_000081.4(LYST):c.11101T>G (p.Cys3701Gly)	LYST (C3701G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 525196	NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)	LYST (V3696I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 254909	NM_000081.4(LYST):c.11039-24C>T	LYST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245378	NM_000081.4(LYST):c.11039-38A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235924	NM_000081.4(LYST):c.11038+97C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247788	NM_000081.4(LYST):c.11038+59C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1313860	NM_000081.4(LYST):c.10976G>T (p.Ser3659Ile)	LYST (S3659I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 235367	NM_000081.4(LYST):c.10941-7C>A	LYST	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1240441	NM_000081.4(LYST):c.10940+91G>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238686	NM_000081.4(LYST):c.10801-157dup	LYST	Duplication (intron variant)	not provided	GBenign
Select item 296350	NM_000081.4(LYST):c.10800+4G>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 674252	NM_000081.4(LYST):c.10701+316C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684367	NM_000081.4(LYST):c.10701+255T>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175600	NM_000081.4(LYST):c.10701+227A>C	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189755	NM_000081.4(LYST):c.10701+217T>C	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684366	NM_000081.4(LYST):c.10701+110dup	LYST	Duplication (intron variant)	not provided	GBenign
Select item 2663059	NM_000081.4(LYST):c.10598G>C (p.Trp3533Ser)	LYST (W3533S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1249412	NM_000081.4(LYST):c.10565-115C>T	LYST	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1281458	NM_000081.4(LYST):c.10564+79A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 254908	NM_000081.4(LYST):c.10564+43G>A	LYST	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 296354	NM_000081.4(LYST):c.10526G>A (p.Arg3509Gln)	LYST (R3509Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2059830	NM_000081.4(LYST):c.10501A>G (p.Thr3501Ala)	LYST (T3501A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1310304	NM_000081.4(LYST):c.10492G>C (p.Ala3498Pro)	LYST (A3498P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1266875	NM_000081.4(LYST):c.10375-93_10375-90del	LYST	Deletion (intron variant)	not provided	GBenign
Select item 1241980	NM_000081.4(LYST):c.10375-128T>C	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223014	NM_000081.4(LYST):c.10375-135C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269719	NM_000081.4(LYST):c.10375-164C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236652	NM_000081.4(LYST):c.10374+75_10374+76insCCAGGGACACAGTA	LYST	Insertion (intron variant)	not provided	GBenign
Select item 254907	NM_000081.4(LYST):c.10374+33A>G	LYST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 424059	NM_000081.4(LYST):c.10286T>G (p.Ile3429Ser)	LYST (I3429S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 511214	NM_000081.4(LYST):c.9926-12C>T	LOC126806063, LYST	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 684363	NM_000081.4(LYST):c.9926-57A>G	LOC126806063, LYST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1249842	NM_000081.4(LYST):c.9926-217T>C	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221305	NM_000081.4(LYST):c.9784+46AAC[9]	LYST	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 1278070	NM_000081.4(LYST):c.9784+46AAC[7]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 1278529	NM_000081.4(LYST):c.9628-37A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244553	NM_000081.4(LYST):c.9627+243G>A	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243728	NM_000081.4(LYST):c.9560+252T>A	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 296362	NM_000081.4(LYST):c.9520G>A (p.Val3174Ile)	LYST (V3174I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 684361	NM_000081.4(LYST):c.9315+52C>A	LYST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2433549	NM_000081.4(LYST):c.9233G>A (p.Arg3078His)	LYST (R3078H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1177760	NM_000081.4(LYST):c.9163-38C>T	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1225078	NM_000081.4(LYST):c.9107-143A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234260	NM_000081.4(LYST):c.9106+58A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221193	NM_000081.4(LYST):c.9045-135C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291350	NM_000081.4(LYST):c.9044+234CA[20]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 1281430	NM_000081.4(LYST):c.9044+234CA[15]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 1249293	NM_000081.4(LYST):c.9044+234CA[14]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 1235682	NM_000081.4(LYST):c.9044+234CA[19]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 1197870	NM_000081.4(LYST):c.9044+234CA[21]	LYST	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1193174	NM_000081.4(LYST):c.9044+234CA[22]	LYST	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1281603	NM_000081.4(LYST):c.9044+252C>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240539	NM_000081.4(LYST):c.9044+232_9044+237del	LYST	Deletion (intron variant)	not provided	GBenign
Select item 1289428	NM_000081.4(LYST):c.9044+232_9044+235del	LYST	Deletion (intron variant)	not provided	GBenign
Select item 1214362	NM_000081.4(LYST):c.9044+232T>C	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 211414	NM_000081.4(LYST):c.9017A>G (p.Lys3006Arg)	LYST (K3006R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +4 more	GConflicting classifications of pathogenicity
Select item 525179	NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)	LYST (N2971K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1308393	NM_000081.4(LYST):c.8818C>T (p.Pro2940Ser)	LYST (P2940S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 525145	NM_000081.4(LYST):c.8806G>A (p.Val2936Ile)	LYST (V2936I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1230090	NM_000081.4(LYST):c.8801+205G>T	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 684360	NM_000081.4(LYST):c.8801+77G>A	LYST	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 254941	NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp)	LYST (G2804D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 2196363	NM_000081.4(LYST):c.8306A>G (p.His2769Arg)	LYST (H2769R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 296376	NM_000081.4(LYST):c.8214G>C (p.Glu2738Asp)	LYST (E2738D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1308165	NM_000081.4(LYST):c.8161A>G (p.Lys2721Glu)	LYST (K2721E)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 672017	NM_000081.4(LYST):c.8151+296A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277167	NM_000081.4(LYST):c.8151+49G>A	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 876715	NM_000081.4(LYST):c.8143G>A (p.Val2715Ile)	LYST (V2715I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1006501	NM_000081.4(LYST):c.7997T>A (p.Ile2666Asn)	LYST (I2666N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1188201	NM_000081.4(LYST):c.7972+293C>G	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268311	NM_000081.4(LYST):c.7972+151A>G	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252161	NM_000081.4(LYST):c.7939A>G (p.Thr2647Ala)	LYST (T2647A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 454488	NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)	LYST (R2624W)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 254940	NM_000081.4(LYST):c.7857T>C (p.His2619=)	LYST	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 235582	NM_000081.4(LYST):c.7793T>A (p.Phe2598Tyr)	LYST (F2598Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 489282	NM_000081.4(LYST):c.7780+2C>T	LYST	Single nucleotide variant (splice donor variant)	not provided +1 more	GUncertain significance
Select item 1220287	NM_000081.4(LYST):c.7627+177T>C	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 664135	NM_000081.4(LYST):c.7627+6A>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2575886	NM_000081.4(LYST):c.7485G>T (p.Leu2495Phe)	LYST (L2495F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1226819	NM_000081.4(LYST):c.7460+204G>A	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 525166	NM_000081.4(LYST):c.7340C>T (p.Ala2447Val)	LYST (A2447V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1282431	NM_000081.4(LYST):c.7229+245G>A	LYST	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296731	NM_000081.4(LYST):c.7229+50CTTTT[9]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 1198476	NM_000081.4(LYST):c.7229+50CTTTT[10]	LYST	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1222553	NM_000081.4(LYST):c.7229+50CTTTT[6]	LYST	Microsatellite (intron variant)	not provided	GBenign
Select item 801635	NM_000081.4(LYST):c.7229+50CTTTT[7]	LYST	Microsatellite (intron variant)	not specified +2 more	GBenign
Select item 453050	NM_000081.4(LYST):c.7184G>T (p.Cys2395Phe)	LYST (C2395F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 546376	NM_000081.4(LYST):c.7159C>T (p.Arg2387Ter)	LYST (R2387*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 254938	NM_000081.4(LYST):c.7137A>C (p.Leu2379=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +3 more	GBenign/Likely benign
Select item 1302401	NM_000081.4(LYST):c.7098A>C (p.Gln2366His)	LYST (Q2366H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1202227	NM_000081.4(LYST):c.7060-280C>T	LYST	Single nucleotide variant (intron variant)	not provided	GLikely benign

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