"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 296343	NM_000081.4(LYST):c.11268-17dup	LYST	Duplication (intron variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 403065	NM_000081.4(LYST):c.11268-5del	LYST	Deletion (intron variant)	Chédiak-Higashi syndrome +3 more	GBenign/Likely benign
Select item 1664434	NM_000081.4(LYST):c.10965G>C (p.Ala3655=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
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 1363715	NM_000081.4(LYST):c.10940+10_10940+12del	LYST	Microsatellite (intron variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
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 1395457	NM_000081.4(LYST):c.10622A>G (p.Tyr3541Cys)	LYST (Y3541C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1013685	NM_000081.4(LYST):c.10374G>A (p.Pro3458=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 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 1694317	NM_000081.4(LYST):c.10149T>C (p.Tyr3383=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome	GUncertain significance
Select item 648882	NM_000081.4(LYST):c.9327T>A (p.Asp3109Glu)	LYST (D3109E)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GUncertain significance
Select item 1694329	NM_000081.4(LYST):c.9223G>A (p.Val3075Ile)	LYST (V3075I)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1694328	NM_000081.4(LYST):c.9064A>G (p.Ser3022Gly)	LYST (S3022G)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +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 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 525186	NM_000081.4(LYST):c.8898T>C (p.Tyr2966=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GBenign/Likely benign
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 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 254941	NM_000081.4(LYST):c.8411G>A (p.Gly2804Asp)	LYST (G2804D)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1694326	NM_000081.4(LYST):c.8266C>T (p.His2756Tyr)	LYST (H2756Y)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 1694325	NM_000081.4(LYST):c.8117T>G (p.Phe2706Cys)	LYST (F2706C)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	GUncertain significance
Select item 435789	NM_000081.4(LYST):c.8027G>T (p.Ser2676Ile)	LYST (S2676I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1694324	NM_000081.4(LYST):c.7895G>C (p.Ser2632Thr)	LYST (S2632T)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	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 1356549	NM_000081.4(LYST):c.7690G>A (p.Ala2564Thr)	LYST (A2564T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GUncertain significance
Select item 254939	NM_000081.4(LYST):c.7506A>G (p.Gln2502=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
Select item 714792	NM_000081.4(LYST):c.7229+3A>G	LYST	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +1 more	GLikely benign
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 254937	NM_000081.4(LYST):c.7059+7G>A	LYST	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 1555432	NM_000081.4(LYST):c.6931C>T (p.Leu2311=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 254936	NM_000081.4(LYST):c.6900G>A (p.Leu2300=)	LYST	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 254934	NM_000081.4(LYST):c.6812A>G (p.Asp2271Gly)	LYST (D2271G)	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 211411	NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)	LYST (Q2237P)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 873939	NM_000081.4(LYST):c.6487G>A (p.Ala2163Thr)	LYST (A2163T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 254931	NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)	LYST (E2161A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 707704	NM_000081.4(LYST):c.6216A>G (p.Val2072=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694323	NM_000081.4(LYST):c.6181G>A (p.Gly2061Arg)	LYST (G2061R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome	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 1647931	NM_000081.4(LYST):c.5919G>A (p.Leu1973=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 945609	NM_000081.4(LYST):c.5784+2C>T	LYST	Single nucleotide variant (splice donor variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1119664	NM_000081.4(LYST):c.5612T>C (p.Ile1871Thr)	LYST (I1871T)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 235239	NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)	LYST (S1840A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 211409	NM_000081.4(LYST):c.5461-3dup	LYST	Duplication (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
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 254926	NM_000081.4(LYST):c.5291G>C (p.Gly1764Ala)	LYST (G1764A)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 454486	NM_000081.4(LYST):c.5033T>C (p.Val1678Ala)	LYST (V1678A)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1694321	NM_000081.4(LYST):c.4929A>G (p.Lys1643=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 435791	NM_000081.4(LYST):c.4863-4G>A	LYST	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 296395	NM_000081.4(LYST):c.4705A>C (p.Asn1569His)	LYST (N1569H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 874003	NM_000081.4(LYST):c.4632C>T (p.Ser1544=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1458623	NM_000081.4(LYST):c.4266C>A (p.Ala1422=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +1 more	GConflicting classifications of pathogenicity
Select item 525162	NM_000081.4(LYST):c.4135A>G (p.Ile1379Val)	LYST (I1379V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 254920	NM_000081.4(LYST):c.3989A>C (p.Asp1330Ala)	LYST (D1330A)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GBenign/Likely benign
Select item 636426	NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)	LYST (N1228S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 522251	NM_000081.4(LYST):c.3507C>T (p.Leu1169=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 254917	NM_000081.4(LYST):c.3359G>T (p.Ser1120Ile)	LYST (S1120I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
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 1694319	NM_000081.4(LYST):c.3107A>C (p.Glu1036Ala)	LYST (E1036A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +1 more	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 254916	NM_000081.4(LYST):c.3050G>A (p.Ser1017Asn)	LYST (S1017N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GBenign
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 296412	NM_000081.4(LYST):c.2908A>C (p.Ile970Leu)	LYST (I970L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GBenign/Likely benign
Select item 296415	NM_000081.4(LYST):c.2769A>C (p.Ser923=)	LYST	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1694318	NM_000081.4(LYST):c.2741_2742del (p.Glu914fs)	LYST (E914fs)	Microsatellite (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 211407	NM_000081.4(LYST):c.2363+4T>C	LYST	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
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 211406	NM_000081.4(LYST):c.1848C>T (p.Asn616=)	LYST	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 254913	NM_000081.4(LYST):c.1686G>C (p.Gln562His)	LYST (Q562H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity
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 454481	NM_000081.4(LYST):c.1384C>T (p.Pro462Ser)	LYST (P462S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GLikely benign
Select item 1490741	NM_000081.4(LYST):c.997C>T (p.His333Tyr)	LYST (H333Y)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GUncertain significance
Select item 1104327	NM_000081.4(LYST):c.716G>A (p.Ser239Asn)	LYST (S239N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +2 more	GConflicting classifications of pathogenicity
Select item 254928	NM_000081.4(LYST):c.574T>G (p.Leu192Val)	LYST (L192V)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 525148	NM_000081.4(LYST):c.476G>A (p.Arg159Lys)	LYST (R159K)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	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 582422	NM_000081.4(LYST):c.285T>G (p.Asp95Glu)	LYST (D95E)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 964755	NM_000081.4(LYST):c.85G>A (p.Ala29Thr)	LYST (A29T)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome +1 more	GUncertain significance
Select item 1694320	NM_000081.4(LYST):c.45T>C (p.Asp15=)	LYST	Single nucleotide variant (synonymous variant +1 more)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity
Select item 254942	NM_000081.4(LYST):c.9C>T (p.Thr3=)	LYST	Single nucleotide variant (synonymous variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 254905	NM_000081.4(LYST):c.-5C>T	LYST	Single nucleotide variant (5 prime UTR variant +1 more)	Chédiak-Higashi syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 84