C0007965[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876670	NM_000081.4(LYST):c.10525C>T (p.Arg3509Trp)	LYST (R3509W)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 649701	NM_000081.4(LYST):c.10468G>A (p.Gly3490Arg)	LYST (G3490R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1037674	NM_000081.4(LYST):c.9410C>A (p.Thr3137Asn)	LYST (T3137N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296363	NM_000081.4(LYST):c.9332A>G (p.Tyr3111Cys)	LYST (Y3111C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 522250	NM_000081.4(LYST):c.8980G>A (p.Glu2994Lys)	LYST (E2994K)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
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)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1694327	NM_000081.4(LYST):c.8779A>T (p.Ile2927Phe)	LYST (I2927F)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	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 525173	NM_000081.4(LYST):c.8426A>G (p.Glu2809Gly)	LYST (E2809G)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	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 938208	NM_000081.4(LYST):c.7994A>G (p.Asp2665Gly)	LYST (D2665G)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 706062	NM_000081.4(LYST):c.7461-11_7461-9del	LYST	Microsatellite (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 875768	NM_000081.4(LYST):c.7310C>G (p.Ser2437Cys)	LYST (S2437C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1034739	NM_000081.4(LYST):c.6794TTG[1] (p.Val2266del)	LYST (V2266del)	Microsatellite (inframe_deletion)	Chédiak-Higashi syndrome	GUncertain significance
Select item 254933	NM_000081.4(LYST):c.6782G>A (p.Arg2261His)	LYST (R2261H)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 1370261	NM_000081.4(LYST):c.6673C>A (p.Arg2225Ser)	LYST (R2225S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1015986	NM_000081.4(LYST):c.6476G>A (p.Gly2159Asp)	LYST (G2159D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 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 211410	NM_000081.4(LYST):c.5945C>T (p.Thr1982Ile)	LYST (T1982I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 546234	NM_000081.4(LYST):c.5620T>A (p.Phe1874Ile)	LYST (F1874I)	Single nucleotide variant (missense variant)	not provided +1 more	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 841091	NM_000081.4(LYST):c.5578A>G (p.Met1860Val)	LYST (M1860V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 703786	NM_000081.4(LYST):c.5461-3del	LYST	Deletion (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1397909	NM_000081.4(LYST):c.5135T>C (p.Ile1712Thr)	LYST (I1712T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 254922	NM_000081.4(LYST):c.4863-19T>C	LYST	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 296395	NM_000081.4(LYST):c.4705A>C (p.Asn1569His)	LYST (N1569H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 842895	NM_000081.4(LYST):c.4376C>T (p.Pro1459Leu)	LYST (P1459L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 972223	NM_000081.4(LYST):c.4265C>T (p.Ala1422Val)	LYST (A1422V)	Single nucleotide variant (missense variant)	not provided +1 more	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 663391	NM_000081.4(LYST):c.3134G>A (p.Ser1045Asn)	LYST (S1045N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
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 570412	NM_000081.4(LYST):c.3014A>G (p.His1005Arg)	LYST (H1005R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	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 296413	NM_000081.4(LYST):c.2870T>C (p.Met957Thr)	LYST (M957T)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 579001	NM_000081.4(LYST):c.2480T>A (p.Leu827Gln)	LYST (L827Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 738462	NM_000081.4(LYST):c.2363+7A>T	LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
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 955370	NM_000081.4(LYST):c.2192A>G (p.Tyr731Cys)	LYST (Y731C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296426	NM_000081.4(LYST):c.1996A>G (p.Ser666Gly)	LYST (S666G)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1440112	NM_000081.4(LYST):c.1676G>A (p.Arg559His)	LYST (R559H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 660511	NM_000081.4(LYST):c.1390G>A (p.Glu464Lys)	LYST (E464K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 840739	NM_000081.4(LYST):c.1259C>T (p.Ala420Val)	LYST (A420V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296434	NM_000081.4(LYST):c.368A>G (p.His123Arg)	LYST (H123R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GBenign/Likely benign
Select item 1467237	NM_000081.4(LYST):c.109A>G (p.Thr37Ala)	LYST (T37A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance

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Items: 46