"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2137839	NM_000081.4(LYST):c.11392T>C (p.Tyr3798His)	LYST (Y3798H)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 625974	NM_000081.4(LYST):c.11167G>T (p.Ala3723Ser)	LYST (A3723S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 525179	NM_000081.4(LYST):c.8913T>G (p.Asn2971Lys)	LYST (N2971K)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome +4 more	GConflicting classifications of pathogenicity
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)	Chédiak-Higashi syndrome +1 more	GUncertain significance
Select item 454488	NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp)	LYST (R2624W)	Single nucleotide variant (missense variant)	LYST-related condition +4 more	GConflicting classifications of pathogenicity
Select item 625975	NM_000081.4(LYST):c.7647G>A (p.Gln2549=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 211411	NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro)	LYST (Q2237P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 254931	NM_000081.4(LYST):c.6482A>C (p.Glu2161Ala)	LYST (E2161A)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +3 more	GConflicting classifications of pathogenicity
Select item 625976	NM_000081.4(LYST):c.6185G>A (p.Gly2062Glu)	LYST (G2062E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2500057	NM_000081.4(LYST):c.6142A>G (p.Lys2048Glu)	LYST (K2048E)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 235239	NM_000081.4(LYST):c.5518T>G (p.Ser1840Ala)	LYST (S1840A)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1164319	NM_000081.4(LYST):c.3940-17dup	LYST	Duplication (intron variant)	Chédiak-Higashi syndrome	GConflicting classifications of pathogenicity
Select item 636426	NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser)	LYST (N1228S)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 647745	NM_000081.4(LYST):c.3536A>G (p.Asn1179Ser)	LYST (N1179S)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 625977	NM_000081.4(LYST):c.3203A>G (p.Gln1068Arg)	LYST (Q1068R)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 296410	NM_000081.4(LYST):c.2946T>C (p.Tyr982=)	LYST	Single nucleotide variant (synonymous variant)	Chédiak-Higashi syndrome	GConflicting classifications of pathogenicity
Select item 1675098	NM_000081.4(LYST):c.2768C>T (p.Ser923Leu)	LYST (S923L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 211407	NM_000081.4(LYST):c.2363+4T>C	LYST	Single nucleotide variant (intron variant)	Autoinflammatory syndrome +4 more	GConflicting classifications of pathogenicity
Select item 454482	NM_000081.4(LYST):c.1829A>T (p.His610Leu)	LYST (H610L)	Single nucleotide variant (missense variant)	Chédiak-Higashi syndrome	GUncertain significance
Select item 211408	NM_000081.4(LYST):c.281C>T (p.Thr94Ile)	LYST (T94I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 21