C0007965[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1046121	NM_000081.4(LYST):c.11368A>G (p.Met3790Val)	LYST (M3790V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
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 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 1323258	NM_000081.4(LYST):c.11002G>T (p.Glu3668Ter)	LYST (E3668*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
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 806382	NM_000081.4(LYST):c.10870G>A (p.Val3624Ile)	LYST (V3624I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2433545	NM_000081.4(LYST):c.10700A>G (p.Gln3567Arg)	LYST (Q3567R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 576012	NM_000081.4(LYST):c.10669G>T (p.Val3557Leu)	LYST (V3557L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 947179	NM_000081.4(LYST):c.10630A>G (p.Asn3544Asp)	LYST (N3544D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2079760	NM_000081.4(LYST):c.10586C>T (p.Thr3529Met)	LYST (T3529M)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 1323261	NM_000081.4(LYST):c.10468G>T (p.Gly3490Ter)	LYST (G3490*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 2084870	NM_000081.4(LYST):c.10373C>A (p.Pro3458Gln)	LYST (P3458Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 525155	NM_000081.4(LYST):c.10235G>A (p.Arg3412His)	LYST (R3412H)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1930983	NM_000081.4(LYST):c.10046A>G (p.Tyr3349Cys)	LOC126806063, LYST (Y3349C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1475634	NM_000081.4(LYST):c.9974A>G (p.Asn3325Ser)	LOC126806063, LYST (N3325S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 806383	NM_000081.4(LYST):c.9958C>T (p.Arg3320Trp)	LOC126806063, LYST (R3320W)	Single nucleotide variant (missense variant)	not provided +1 more	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 2433573	NM_000081.4(LYST):c.9939_9940insTTAG (p.Val3314fs)	LOC126806063, LYST (V3314fs)	Insertion (frameshift 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 1444070	NM_000081.4(LYST):c.9920G>T (p.Arg3307Leu)	LYST (R3307L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 2193845	NM_000081.4(LYST):c.9776C>T (p.Ala3259Val)	LYST (A3259V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296360	NM_000081.4(LYST):c.9742G>A (p.Val3248Ile)	LYST (V3248I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2169151	NM_000081.4(LYST):c.9647G>A (p.Arg3216His)	LYST (R3216H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1323263	NM_000081.4(LYST):c.9377_9389del (p.Gly3126fs)	LYST (G3126fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 1045898	NM_000081.4(LYST):c.9338A>G (p.Asn3113Ser)	LYST (N3113S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 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 296366	NM_000081.4(LYST):c.8960C>G (p.Pro2987Arg)	LYST (P2987R)	Single nucleotide variant (missense variant)	not provided +2 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 296370	NM_000081.4(LYST):c.8537A>C (p.Glu2846Ala)	LYST (E2846A)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1382787	NM_000081.4(LYST):c.8510C>T (p.Ala2837Val)	LYST (A2837V)	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 1323259	NM_000081.4(LYST):c.8358+2T>C	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
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 2076878	NM_000081.4(LYST):c.7974A>C (p.Glu2658Asp)	LYST (E2658D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1323262	NM_000081.4(LYST):c.7645C>T (p.Gln2549Ter)	LYST (Q2549*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 1902602	NM_000081.4(LYST):c.7636G>A (p.Val2546Ile)	LYST (V2546I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2433565	NM_000081.4(LYST):c.7619G>A (p.Arg2540Lys)	LYST (R2540K)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 580113	NM_000081.4(LYST):c.7439C>A (p.Ala2480Asp)	LYST (A2480D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1037977	NM_000081.4(LYST):c.6866C>G (p.Thr2289Ser)	LYST (T2289S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2163238	NM_000081.4(LYST):c.6856T>G (p.Tyr2286Asp)	LYST (Y2286D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296383	NM_000081.4(LYST):c.6772G>C (p.Ala2258Pro)	LYST (A2258P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1392094	NM_000081.4(LYST):c.6718C>T (p.His2240Tyr)	LYST (H2240Y)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 664644	NM_000081.4(LYST):c.6682G>C (p.Asp2228His)	LYST (D2228H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	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 2433542	NM_000081.4(LYST):c.6548C>G (p.Ala2183Gly)	LYST (A2183G)	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 525147	NM_000081.4(LYST):c.6460G>A (p.Asp2154Asn)	LYST (D2154N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 296386	NM_000081.4(LYST):c.6454A>C (p.Ser2152Arg)	LYST (S2152R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GUncertain significance
Select item 426696	NM_000081.4(LYST):c.6388G>A (p.Asp2130Asn)	LYST (D2130N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 971150	NM_000081.4(LYST):c.6332C>A (p.Thr2111Asn)	LYST (T2111N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 941738	NM_000081.4(LYST):c.6331A>G (p.Thr2111Ala)	LYST (T2111A)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1004778	NM_000081.4(LYST):c.6189G>T (p.Arg2063Ser)	LYST (R2063S)	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 296390	NM_000081.4(LYST):c.6079G>C (p.Val2027Leu)	LYST (V2027L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 941401	NM_000081.4(LYST):c.6065C>T (p.Pro2022Leu)	LYST (P2022L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1046046	NM_000081.4(LYST):c.5704G>A (p.Val1902Ile)	LYST (V1902I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1051269	NM_000081.4(LYST):c.5674A>G (p.Met1892Val)	LYST (M1892V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GConflicting classifications of pathogenicity
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 2433575	NM_000081.4(LYST):c.5608T>C (p.Cys1870Arg)	LYST (C1870R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1035435	NM_000081.4(LYST):c.5598C>G (p.Ile1866Met)	LYST (I1866M)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	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 1372412	NM_000081.4(LYST):c.5323T>C (p.Phe1775Leu)	LYST (F1775L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 939130	NM_000081.4(LYST):c.5153G>A (p.Arg1718Gln)	LYST (R1718Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 705573	NM_000081.4(LYST):c.4983G>A (p.Leu1661=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GConflicting classifications of pathogenicity
Select item 525188	NM_000081.4(LYST):c.4637C>T (p.Ala1546Val)	LYST (A1546V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 806384	NM_000081.4(LYST):c.4578T>A (p.Asn1526Lys)	LYST (N1526K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433554	NM_000081.4(LYST):c.4544-3T>C	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 959432	NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp)	LYST (R1446W)	Single nucleotide variant (missense variant)	Spastic ataxia +1 more	GUncertain significance
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 940287	NM_000081.4(LYST):c.4204G>A (p.Ala1402Thr)	LYST (A1402T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 574882	NM_000081.4(LYST):c.4108C>G (p.Pro1370Ala)	LYST (P1370A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1025576	NM_000081.4(LYST):c.4071G>C (p.Glu1357Asp)	LYST (E1357D)	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 874940	NM_000081.4(LYST):c.3991G>A (p.Asp1331Asn)	LYST (D1331N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 2169015	NM_000081.4(LYST):c.3989A>G (p.Asp1330Gly)	LYST (D1330G)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296398	NM_000081.4(LYST):c.3931A>G (p.Met1311Val)	LYST (M1311V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GUncertain significance
Select item 296399	NM_000081.4(LYST):c.3898A>G (p.Ile1300Val)	LYST (I1300V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1039722	NM_000081.4(LYST):c.3650AAG[2] (p.Glu1219del)	LYST (E1219del)	Microsatellite (inframe_deletion)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1507964	NM_000081.4(LYST):c.3647T>C (p.Val1216Ala)	LYST (V1216A)	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 2200984	NM_000081.4(LYST):c.3508G>A (p.Gly1170Arg)	LYST (G1170R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 450396	NM_000081.4(LYST):c.3311G>A (p.Arg1104Gln)	LYST (R1104Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	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 1386113	NM_000081.4(LYST):c.3250G>A (p.Ala1084Thr)	LYST (A1084T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2059839	NM_000081.4(LYST):c.3205C>T (p.His1069Tyr)	LYST (H1069Y)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 2433544	NM_000081.4(LYST):c.3142A>G (p.Ile1048Val)	LYST (I1048V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 3814	NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)	LYST (Q1029*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 296408	NM_000081.4(LYST):c.3083C>G (p.Ser1028Cys)	LYST (S1028C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GUncertain significance
Select item 525168	NM_000081.4(LYST):c.2963G>A (p.Arg988Gln)	LYST (R988Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 705784	NM_000081.4(LYST):c.2826A>G (p.Pro942=)	LYST	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2433550	NM_000081.4(LYST):c.2745delinsGGCC (p.Ser915_Asp916insAla)	LYST	Indel (inframe_indel +1 more)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1922403	NM_000081.4(LYST):c.2677G>A (p.Val893Ile)	LYST (V893I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1429927	NM_000081.4(LYST):c.2657G>A (p.Arg886Gln)	LYST (R886Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 850107	NM_000081.4(LYST):c.2656C>T (p.Arg886Trp)	LYST (R886W)	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

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