C0007965[trait identifier] AND "GeneReviews"[submitter] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 180631	NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)	LYST (G3725R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 180630	NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)	LYST (C3701F)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 65530	NM_000081.4(LYST):c.10395del (p.Gly3466fs)	LYST (G3466fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
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
Select item 65552	NM_000081.4(LYST):c.9893del (p.Phe3298fs)	LYST (F3298fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 180629	NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)	LYST	Deletion (inframe_deletion)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3812	NM_000081.4(LYST):c.9590del (p.Tyr3197fs)	LYST (Y3197fs)	Deletion (frameshift variant)	Chediak-Higashi syndrome, childhood type	GPathogenic
Select item 65550	NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer)	LYST	Insertion (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 65549	NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter)	LYST (W2861*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 65548	NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys)	LYST (E2810K)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 180628	NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)	LYST (R2761*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 180627	NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)	LYST (S2661*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 65547	NM_000081.4(LYST):c.7555del (p.Tyr2519fs)	LYST (Y2519fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 65546	NM_000081.2(LYST):c.7060_7066delCTATTAG	LYST	Deletion (genic downstream transcript variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 65545	NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter)	LYST (Y2026*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 3817	NM_000081.4(LYST):c.5996T>A (p.Val1999Asp)	LYST (V1999D)	Single nucleotide variant (missense variant)	Chediak-Higashi syndrome, adult type	GPathogenic
Select item 180626	NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)	LYST (R1848fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 180625	NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)	LYST (R1836*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 65544	NM_000081.4(LYST):c.5317del (p.Arg1773fs)	LYST (R1773fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 65543	NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter)	LYST (Y1687*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 3816	NM_000081.4(LYST):c.4688G>A (p.Arg1563His)	LYST (R1563H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 65542	NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp)	LYST (A1454D)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 65541	NM_000081.4(LYST):c.4274del (p.Leu1425fs)	LYST (L1425fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 65540	NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter)	LYST (S1351*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 180624	NM_000081.4(LYST):c.3944dup (p.Val1316fs)	LYST (V1316fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 180623	NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)	LYST (Q1208*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	Gnot provided
Select item 65539	NM_000081.4(LYST):c.3434dup (p.His1145fs)	LYST (H1145fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 3809	NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter)	LYST (R1104*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3814	NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter)	LYST (Q1029*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 65538	NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs)	LYST (N1025fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 3815	NM_000081.4(LYST):c.2623del (p.Tyr875fs)	LYST (Y875fs)	Deletion (frameshift variant)	Chediak-Higashi syndrome, childhood type	GPathogenic
Select item 65536	NM_000081.4(LYST):c.2454del (p.Ala819fs)	LYST (A819fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	Gnot provided
Select item 65535	NM_000081.4(LYST):c.2413del (p.Glu805fs)	LYST (E805fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 3811	NM_000081.4(LYST):c.1902dup (p.Ala635fs)	LYST (A635fs)	Duplication (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 65533	NM_000081.4(LYST):c.1540C>T (p.Arg514Ter)	LYST (R514*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 3808	NM_000081.4(LYST):c.1467del (p.Glu489fs)	LYST (E489fs)	Deletion (frameshift variant)	Chédiak-Higashi syndrome	GPathogenic
Select item 180621	NM_000081.4(LYST):c.925C>T (p.Arg309Ter)	LYST (R309*)	Single nucleotide variant (nonsense)	Chédiak-Higashi syndrome	GPathogenic
Select item 180622	NM_000081.4(LYST):c.772T>C (p.Cys258Arg)	LYST (C258R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GLikely pathogenic
Select item 3813	NM_000081.4(LYST):c.148C>T (p.Arg50Ter)	LYST (R50*)	Single nucleotide variant (nonsense +1 more)	Chediak-Higashi syndrome, childhood type	GPathogenic
Select item 3810	NM_000081.4(LYST):c.118dup (p.Ala40fs)	LYST (A40fs)	Duplication (frameshift variant +1 more)	Chediak-Higashi syndrome, childhood type	GPathogenic
Select item 40979	NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)	LYST	Deletion	Chédiak-Higashi syndrome	Gnot provided

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Items: 41