"LYST-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296342	NM_000081.4(LYST):c.*5G>A	LYST	Single nucleotide variant (3 prime UTR variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 706164	NM_000081.4(LYST):c.11382C>T (p.Phe3794=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 873776	NM_000081.4(LYST):c.11229A>G (p.Arg3743=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 525196	NM_000081.4(LYST):c.11086G>A (p.Val3696Ile)	LYST (V3696I)	Single nucleotide variant (missense variant)	LYST-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 710504	NM_000081.4(LYST):c.10965G>A (p.Ala3655=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1111843	NM_000081.4(LYST):c.10848A>G (p.Thr3616=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 649701	NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)	LYST (G3490R)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GUncertain significance
Select item 2629539	NM_000081.4(LYST):c.10459C>T (p.Gln3487Ter)	LYST (Q3487*)	Single nucleotide variant (nonsense)	LYST-related disorder	GPathogenic
Select item 1636730	NM_000081.4(LYST):c.10374+20A>G	LYST	Single nucleotide variant (intron variant)	LYST-related disorder +1 more	GBenign/Likely benign
Select item 525155	NM_000081.4(LYST):c.10235G>A (p.Arg3412His)	LYST (R3412H)	Single nucleotide variant (missense variant)	LYST-related disorder +4 more	GUncertain significance
Select item 3055537	NM_000081.4(LYST):c.10222G>A (p.Gly3408Arg)	LYST (G3408R)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 1559657	NM_000081.4(LYST):c.10203A>G (p.Glu3401=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1540106	NM_000081.4(LYST):c.10170A>G (p.Ala3390=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 65529	NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)	LOC126806063, LYST (N3376S)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2768299	NM_000081.4(LYST):c.9825A>C (p.Thr3275=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 3030493	NM_000081.4(LYST):c.9702C>T (p.Gly3234=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder	GLikely benign
Select item 2385121	NM_000081.4(LYST):c.9541A>C (p.Asn3181His)	LYST (N3181H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1101664	NM_000081.4(LYST):c.9387C>T (p.Thr3129=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 2635602	NM_000081.4(LYST):c.9319C>T (p.Arg3107Cys)	LYST (R3107C)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 525179	NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)	LYST (N2971K)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +4 more	GConflicting classifications of pathogenicity
Select item 525159	NM_000081.4(LYST):c.8657T>C (p.Ile2886Thr)	LYST (I2886T)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 525150	NM_000081.4(LYST):c.8624G>A (p.Arg2875His)	LYST (R2875H)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GLikely benign
Select item 962090	NM_000081.4(LYST):c.8623C>T (p.Arg2875Cys)	LYST (R2875C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1381226	NM_000081.4(LYST):c.8549A>G (p.Tyr2850Cys)	LYST (Y2850C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 766878	NM_000081.4(LYST):c.8535+9A>G	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 525191	NM_000081.4(LYST):c.8497G>A (p.Ala2833Thr)	LYST (A2833T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 707325	NM_000081.4(LYST):c.8259G>A (p.Ser2753=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 211413	NM_000081.4(LYST):c.8151T>C (p.Ile2717=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 435789	NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)	LYST (S2676I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +4 more	GConflicting classifications of pathogenicity
Select item 454488	NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)	LYST (R2624W)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1125917	NM_000081.4(LYST):c.7689C>T (p.Thr2563=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1599085	NM_000081.4(LYST):c.7562G>C (p.Arg2521Thr)	LYST (R2521T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GBenign/Likely benign
Select item 1550518	NM_000081.4(LYST):c.7035A>G (p.Pro2345=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1129142	NM_000081.4(LYST):c.7032A>G (p.Ser2344=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 2734012	NM_000081.4(LYST):c.7017C>T (p.Leu2339=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 2630161	NM_000081.4(LYST):c.6791G>C (p.Ser2264Thr)	LYST (S2264T)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 426698	NM_000081.4(LYST):c.6737T>G (p.Leu2246Arg)	LYST (L2246R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GUncertain significance
Select item 211411	NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)	LYST (Q2237P)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 525190	NM_000081.4(LYST):c.6632C>G (p.Pro2211Arg)	LYST (P2211R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GLikely benign
Select item 760247	NM_000081.4(LYST):c.6570C>T (p.Val2190=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 296386	NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)	LYST (S2152R)	Single nucleotide variant (missense variant)	LYST-related disorder +2 more	GUncertain significance
Select item 426696	NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)	LYST (D2130N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 296388	NM_000081.4(LYST):c.6291C>T (p.Ala2097=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 782978	NM_000081.4(LYST):c.6258G>A (p.Glu2086=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 3016650	NM_000081.4(LYST):c.6192C>T (p.Ser2064=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 3030218	NM_000081.4(LYST):c.5973A>G (p.Ser1991=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder	GLikely benign
Select item 211410	NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)	LYST (T1982I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +4 more	GBenign/Likely benign
Select item 1601338	NM_000081.4(LYST):c.5923-4dup	LYST	Duplication (intron variant)	Chédiak-Higashi syndrome +1 more	GBenign/Likely benign
Select item 3046729	NM_000081.4(LYST):c.5531A>G (p.Tyr1844Cys)	LYST (Y1844C)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 1694322	NM_000081.4(LYST):c.5374A>G (p.Asn1792Asp)	LYST (N1792D)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2011677	NM_000081.4(LYST):c.5229T>C (p.Val1743=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1902647	NM_000081.4(LYST):c.4779A>G (p.Gln1593=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 296395	NM_000081.4(LYST):c.4705A>C (p.Asn1569His)	LYST (N1569H)	Single nucleotide variant (missense variant)	LYST-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 525163	NM_000081.4(LYST):c.4670A>G (p.Asn1557Ser)	LYST (N1557S)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GUncertain significance
Select item 525188	NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)	LYST (A1546V)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 296396	NM_000081.4(LYST):c.4566A>C (p.Ala1522=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 3030506	NM_000081.4(LYST):c.4433G>A (p.Trp1478Ter)	LYST (W1478*)	Single nucleotide variant (nonsense)	LYST-related disorder	GLikely pathogenic
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 1119001	NM_000081.4(LYST):c.4221C>T (p.Asn1407=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 874939	NM_000081.4(LYST):c.4053A>G (p.Ser1351=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 296400	NM_000081.4(LYST):c.3834G>A (p.Leu1278=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 636426	NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)	LYST (N1228S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 959147	NM_000081.4(LYST):c.3644T>C (p.Leu1215Ser)	LYST (L1215S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 773988	NM_000081.4(LYST):c.3465A>G (p.Gln1155=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1936009	NM_000081.4(LYST):c.3249C>T (p.Ala1083=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 1964487	NM_000081.4(LYST):c.3223G>A (p.Val1075Met)	LYST (V1075M)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 3045906	NM_000081.4(LYST):c.3144A>G (p.Ile1048Met)	LYST (I1048M)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 3032929	NM_000081.4(LYST):c.2914A>T (p.Met972Leu)	LYST (M972L)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 2121864	NM_000081.4(LYST):c.2844C>T (p.Ser948=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 296415	NM_000081.4(LYST):c.2769A>C (p.Ser923=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 2630158	NM_000081.4(LYST):c.2720del (p.Leu907fs)	LYST (L907fs)	Deletion (frameshift variant)	LYST-related disorder	GLikely pathogenic
Select item 296418	NM_000081.4(LYST):c.2700A>G (p.Leu900=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 813928	NM_000081.4(LYST):c.2465C>T (p.Thr822Ile)	LYST (T822I)	Single nucleotide variant (missense variant)	LYST-related disorder +2 more	GUncertain significance
Select item 525158	NM_000081.4(LYST):c.2455G>A (p.Ala819Thr)	LYST (A819T)	Single nucleotide variant (missense variant)	LYST-related disorder +1 more	GUncertain significance
Select item 3030452	NM_000081.4(LYST):c.2319G>A (p.Val773=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder	GLikely benign
Select item 525187	NM_000081.4(LYST):c.2310T>C (p.Pro770=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 2629069	NM_000081.4(LYST):c.2058G>C (p.Leu686Phe)	LYST (L686F)	Single nucleotide variant (missense variant)	LYST-related disorder	GUncertain significance
Select item 2748630	NM_000081.4(LYST):c.1758_1761dup (p.Pro588fs)	LYST (P588fs)	Duplication (frameshift variant)	LYST-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 296428	NM_000081.4(LYST):c.1722A>G (p.Leu574=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 959002	NM_000081.4(LYST):c.1481C>T (p.Ser494Leu)	LYST (S494L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 2909815	NM_000081.4(LYST):c.981C>A (p.Leu327=)	LYST	Single nucleotide variant (synonymous variant)	LYST-related disorder +1 more	GLikely benign
Select item 704023	NM_000081.4(LYST):c.692A>G (p.Gln231Arg)	LYST (Q231R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1304957	NM_000081.4(LYST):c.595G>A (p.Asp199Asn)	LYST (D199N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1572279	NM_000081.4(LYST):c.297G>A (p.Pro99=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +2 more	GLikely benign
Select item 582422	NM_000081.4(LYST):c.285T>G (p.Asp95Glu)	LYST (D95E)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 1694320	NM_000081.4(LYST):c.45T>C (p.Asp15=)	LYST	Single nucleotide variant (synonymous variant +1 more)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1129773	NM_000081.4(LYST):c.42C>T (p.Thr14=)	LYST	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign

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Items: 87