Related gene-specific medical variations for Gene (Select 126806063) - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3022894	NM_000081.4(LYST):c.10029G>A (p.Gln3343=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2967267	NM_000081.4(LYST):c.10056G>A (p.Gln3352=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2965146	NM_000081.4(LYST):c.10035A>G (p.Leu3345=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2879511	NM_000081.4(LYST):c.10131T>A (p.Val3377=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2865176	NM_000081.4(LYST):c.10078T>C (p.Leu3360=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2854347	NM_000081.4(LYST):c.10027C>T (p.Gln3343Ter)	LOC126806063, LYST (Q3343*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 2843800	NM_000081.4(LYST):c.9926-11T>A	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2820247	NM_000081.4(LYST):c.10143+20C>G	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2769287	NM_000081.4(LYST):c.10083del (p.Phe3362fs)	LOC126806063, LYST (F3362fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 2768881	NM_000081.4(LYST):c.9961dup (p.Val3321fs)	LOC126806063, LYST (V3321fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 2768572	NM_000081.4(LYST):c.9972C>T (p.Val3324=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2765928	NM_000081.4(LYST):c.9930T>C (p.Phe3310=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2759103	NM_000081.4(LYST):c.9942G>C (p.Val3314=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2755772	NM_000081.4(LYST):c.9960G>C (p.Arg3320=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2731899	NM_000081.4(LYST):c.10089G>T (p.Gly3363=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2726124	NM_000081.4(LYST):c.9926-17T>C	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2676337	NM_000081.4(LYST):c.9988del (p.Ala3330fs)	LOC126806063, LYST (A3330fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic/Likely pathogenic
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 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 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 2331921	NM_000081.4(LYST):c.9988G>A (p.Ala3330Thr)	LOC126806063, LYST (A3330T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193030	NM_000081.4(LYST):c.10143+14_10143+15del	LOC126806063, LYST	Deletion (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2146173	NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)	LOC126806063, LYST (I3354fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2124244	NM_000081.4(LYST):c.10143+7G>A	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2109479	NM_000081.4(LYST):c.10002T>C (p.Pro3334=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2104357	NM_000081.4(LYST):c.10060A>G (p.Ile3354Val)	LOC126806063, LYST (I3354V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 2085849	NM_000081.4(LYST):c.9984T>G (p.Pro3328=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2079292	NM_000081.4(LYST):c.10047C>T (p.Tyr3349=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2072719	NM_000081.4(LYST):c.10143+20C>T	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2019815	NM_000081.4(LYST):c.10032T>C (p.Ala3344=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 2006801	NM_000081.4(LYST):c.9976C>A (p.Leu3326Ile)	LOC126806063, LYST (L3326I)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1942882	NM_000081.4(LYST):c.9991C>T (p.Arg3331Cys)	LOC126806063, LYST (R3331C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	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 1916691	NM_000081.4(LYST):c.9990G>C (p.Ala3330=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1691240	NM_000081.4(LYST):c.10100del (p.Lys3367fs)	LOC126806063, LYST (K3367fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 1691239	NM_000081.4(LYST):c.10095G>C (p.Lys3365Asn)	LYST, LOC126806063 (K3365N)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 1674798	NM_000081.4(LYST):c.10014C>A (p.Ile3338=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1672637	NM_000081.4(LYST):c.10143+15dup	LOC126806063, LYST	Duplication (intron variant)	Chédiak-Higashi syndrome	GBenign
Select item 1618024	NM_000081.4(LYST):c.9926-16T>C	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1577604	NM_000081.4(LYST):c.9926-8T>G	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1491815	NM_000081.4(LYST):c.10003C>T (p.Arg3335Cys)	LOC126806063, LYST (R3335C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1478311	NM_000081.4(LYST):c.9970G>A (p.Val3324Ile)	LOC126806063, LYST (V3324I)	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 1461705	NM_000081.4(LYST):c.10106A>G (p.Lys3369Arg)	LOC126806063, LYST (K3369R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1383366	NM_000081.4(LYST):c.10033C>G (p.Leu3345Val)	LOC126806063, LYST (L3345V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 1363731	NM_000081.4(LYST):c.10143+6T>G	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1158063	NM_000081.4(LYST):c.10122G>A (p.Ala3374=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1115521	NM_000081.4(LYST):c.10101G>A (p.Lys3367=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1107772	NM_000081.4(LYST):c.10026G>A (p.Arg3342=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GLikely benign
Select item 1053162	NM_000081.4(LYST):c.10108G>C (p.Ala3370Pro)	LOC126806063, LYST (A3370P)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 1041960	NM_000081.4(LYST):c.10072A>G (p.Ile3358Val)	LOC126806063, LYST (I3358V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 933841	NM_000081.4(LYST):c.10123A>G (p.Ile3375Val)	LOC126806063, LYST (I3375V)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 873831	NM_000081.4(LYST):c.9990G>A (p.Ala3330=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GConflicting classifications of pathogenicity
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 787356	NM_000081.4(LYST):c.10053G>A (p.Ser3351=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome +1 more	GLikely benign
Select item 756160	NM_000081.4(LYST):c.9926-9C>G	LOC126806063, LYST	Single nucleotide variant (intron variant)	Chédiak-Higashi syndrome	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 658580	NM_000081.4(LYST):c.10025G>A (p.Arg3342Gln)	LOC126806063, LYST (R3342Q)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 578910	NM_000081.4(LYST):c.9943C>T (p.Arg3315Cys)	LOC126806063, LYST (R3315C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	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 435787	NM_000081.4(LYST):c.9992G>A (p.Arg3331His)	LOC126806063, LYST (R3331H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 296359	NM_000081.4(LYST):c.9969C>T (p.His3323=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GConflicting classifications of pathogenicity
Select item 296358	NM_000081.4(LYST):c.10091A>G (p.Tyr3364Cys)	LOC126806063, LYST (Y3364C)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 254906	NM_000081.4(LYST):c.10110T>C (p.Ala3370=)	LOC126806063, LYST	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 65529	NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser)	LOC126806063, LYST (N3376S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +1 more	GConflicting classifications of pathogenicity

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Items: 65