Full data view for gene LYST

Information The variants shown are described using the NM_000081.3 transcript reference sequence.

384 entries on 4 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-98+5A>C r.spl? p.? Unknown - likely benign g.236030138T>G - LYST(NM_000081.3):c.-98+5A>C - LYST_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-97-5T>G r.spl? p.? Unknown - likely benign g.235996972A>C g.235833672A>C LYST(NM_000081.3):c.-97-5T>G - LYST_000163 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7-19del r.(=) p.(=) Unknown - benign g.235993752del g.235830452del LYST(NM_000081.3):c.-7-19delT - LYST_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7-16A>G r.(=) p.(=) Unknown - benign g.235993740T>C - LYST(NM_000081.3):c.-7-16A>G - LYST_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9C>T r.(?) p.(Thr3=) Unknown - likely benign g.235993709G>A g.235830409G>A LYST(NM_000081.2):c.9C>T (p.(Thr3=)) - LYST_000162 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.18C>G r.(?) p.(Asn6Lys) Unknown - VUS g.235993700G>C g.235830400G>C LYST(NM_001301365.1):c.18C>G (p.N6K) - LYST_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.115A>G r.(?) p.(Met39Val) Unknown - VUS g.235993603T>C - LYST(NM_001301365.1):c.115A>G (p.M39V) - LYST_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118dup r.(?) p.(Ala40Glyfs*24) Unknown - VUS g.235993601dup g.235830301dup - - LYST_000001 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.122C>A r.(?) p.(Thr41Asn) Unknown - VUS g.235993596G>T g.235830296G>T LYST(NM_001301365.1):c.122C>A (p.T41N) - LYST_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143A>G r.(?) p.(His48Arg) Unknown - likely benign g.235993575T>C g.235830275T>C LYST(NM_000081.3):c.143A>G (p.H48R), LYST(NM_001301365.1):c.143A>G (p.H48R) - LYST_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.143A>G r.(?) p.(His48Arg) Unknown - likely benign g.235993575T>C g.235830275T>C LYST(NM_000081.3):c.143A>G (p.H48R), LYST(NM_001301365.1):c.143A>G (p.H48R) - LYST_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.153A>C r.(?) p.(Gly51=) Unknown - benign g.235993565T>G - LYST(NM_000081.2):c.153A>C (p.(=)) - LYST_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.192+8T>G r.(=) p.(=) Unknown - likely benign g.235993518A>C - LYST(NM_001301365.1):c.192+8T>G - LYST_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.281C>T r.(?) p.(Thr94Ile) Maternal (confirmed) ACMG VUS g.235976273G>A g.235812973G>A - - LYST_000259 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat34,1 PubMed: Stray-Pedersen 2017 - M - United States Hispanic;Latino - - - - 1 Johan den Dunnen
-?/. - c.285T>C r.(?) p.(Asp95=) Unknown - likely benign g.235973833A>G - LYST(NM_001301365.1):c.285T>C (p.D95=) - LYST_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348A>G r.(?) p.(Arg116=) Unknown - benign g.235973770T>C g.235810470T>C LYST(NM_001301365.1):c.348A>G (p.R116=) - LYST_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.368A>G r.(?) p.(His123Arg) Unknown - likely benign g.235973750T>C g.235810450T>C LYST(NM_000081.3):c.368A>G (p.H123R) - LYST_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.422G>A r.(?) p.(Arg141Gln) Unknown - VUS g.235973696C>T - LYST(NM_001301365.1):c.422G>A (p.R141Q) - LYST_000247 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.553C>T r.(?) p.(Pro185Ser) Unknown - likely benign g.235973565G>A g.235810265G>A LYST(NM_001301365.1):c.553C>T (p.P185S) - LYST_000173 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.574T>G r.(?) p.(Leu192Val) Unknown - benign g.235973544A>C g.235810244A>C LYST(NM_000081.2):c.574T>G (p.(Leu192Val)), LYST(NM_000081.3):c.574T>G (p.L192V) - LYST_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.574T>G r.(?) p.(Leu192Val) Unknown - benign g.235973544A>C g.235810244A>C LYST(NM_000081.2):c.574T>G (p.(Leu192Val)), LYST(NM_000081.3):c.574T>G (p.L192V) - LYST_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595G>A r.(?) p.(Asp199Asn) Unknown - likely benign g.235973523C>T g.235810223C>T LYST(NM_000081.2):c.595G>A (p.(Asp199Asn)) - LYST_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>G r.(?) p.(Asp199Glu) Unknown - likely benign g.235973521G>C - LYST(NM_000081.3):c.597C>G (p.D199E) - LYST_000246 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646C>T r.(?) p.(Pro216Ser) Unknown - likely benign g.235973472G>A g.235810172G>A LYST(NM_000081.3):c.646C>T (p.(Pro216Ser)), LYST(NM_001301365.1):c.646C>T (p.P216S) - LYST_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.646C>T r.(?) p.(Pro216Ser) Unknown - VUS g.235973472G>A - LYST(NM_000081.3):c.646C>T (p.(Pro216Ser)), LYST(NM_001301365.1):c.646C>T (p.P216S) - LYST_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.692A>G r.(?) p.(Gln231Arg) Unknown - likely benign g.235973426T>C - LYST(NM_000081.3):c.692A>G (p.Q231R) - LYST_000266 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949G>A r.(?) p.(Glu317Lys) Unknown - VUS g.235973169C>T g.235809869C>T LYST(NM_001301365.1):c.949G>A (p.E317K) - LYST_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.949G>A r.(?) p.(Glu317Lys) Both (homozygous) - pathogenic g.235973169C>T g.235809869C>T - - LYST_000072 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - OPA - - - M - (Afghanistan) - - - - - 3 Marta de Castro-Miró
?/. - c.986G>A r.(?) p.(Arg329Gln) Unknown - VUS g.235973132C>T - LYST(NM_001301365.1):c.986G>A (p.R329Q) - LYST_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1296G>T r.(?) p.(Leu432Phe) Unknown - VUS g.235972822C>A - LYST(NM_000081.4):c.1296G>T (p.(Leu432Phe)) - LYST_000280 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1384C>T r.(?) p.(Pro462Ser) Unknown - likely benign g.235972734G>A - LYST(NM_000081.3):c.1384C>T (p.P462S), LYST(NM_001301365.1):c.1384C>T (p.P462S) - LYST_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1384C>T r.(?) p.(Pro462Ser) Unknown - likely benign g.235972734G>A - LYST(NM_000081.3):c.1384C>T (p.P462S), LYST(NM_001301365.1):c.1384C>T (p.P462S) - LYST_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1463C>G r.(?) p.(Ser488Ter) Parent #1 - pathogenic (recessive) g.235972655G>C g.235809355G>C - - LYST_000230 - PubMed: Lasseaux 2018 - - Germline - - - - - DNA SEQ-NG - - albinism LYST-P2 PubMed: Lasseaux 2018 analysis 990 cases albinism - - - - - - - - 1 Johan den Dunnen
-?/. - c.1508G>A r.(?) p.(Arg503Gln) Unknown - likely benign g.235972610C>T g.235809310C>T LYST(NM_000081.3):c.1508G>A (p.R503Q) - LYST_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1615G>A r.(?) p.(Gly539Arg) Unknown - VUS g.235972503C>T - LYST(NM_001301365.1):c.1615G>A (p.G539R) - LYST_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1686G>C r.(?) p.(Gln562His) Unknown - likely benign g.235972432C>G g.235809132C>G LYST(NM_000081.2):c.1686G>C (p.(Gln562His)) - LYST_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1686G>C r.(?) p.(Gln562His) Parent #1 - likely benign g.235972432C>G g.235809132C>G - - LYST_000142 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77091385 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.1686G>C r.(?) p.(Gln562His) Unknown - likely pathogenic (recessive) g.235972432C>G - - - LYST_000142 - PubMed: Gernez 2019 - - Germline - - - - - DNA SEQ - - ? Pat2 PubMed: Gernez 2019 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
-?/. - c.1722A>G r.(?) p.(Leu574=) Unknown - likely benign g.235972396T>C g.235809096T>C LYST(NM_001301365.1):c.1722A>G (p.L574=) - LYST_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1814A>C r.(?) p.(Lys605Thr) Unknown - VUS g.235972304T>G - LYST(NM_001301365.1):c.1814A>C (p.K605T) - LYST_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1829A>T r.(?) p.(His610Leu) Unknown - VUS g.235972289T>A g.235808989T>A LYST(NM_001301365.1):c.1829A>T (p.H610L) - LYST_000161 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1908T>C r.(?) p.(Ala636=) Unknown - likely benign g.235972210A>G - LYST(NM_001301365.1):c.1908T>C (p.A636=) - LYST_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1940T>G r.(?) p.(Leu647Arg) Unknown - VUS g.235972178A>C - LYST(NM_001301365.1):c.1940T>G (p.L647R) - LYST_000245 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1975T>C r.(?) p.(Cys659Arg) Unknown - likely benign g.235972143A>G - LYST(NM_001301365.1):c.1975T>C (p.C659R) - LYST_000223 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2258G>A r.(?) p.(Ser753Asn) Unknown - likely benign g.235971860C>T - LYST(NM_001301365.1):c.2258G>A (p.S753N) - LYST_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2313G>A r.(?) p.(Gln771=) Unknown - benign g.235971805C>T g.235808505C>T LYST(NM_000081.3):c.2313G>A (p.Q771=), LYST(NM_001301365.1):c.2313G>A (p.Q771=) - LYST_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2313G>A r.(?) p.(Gln771=) Unknown - likely benign g.235971805C>T - LYST(NM_000081.3):c.2313G>A (p.Q771=), LYST(NM_001301365.1):c.2313G>A (p.Q771=) - LYST_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2313G>A r.(?) p.(Gln771=) Unknown - likely benign g.235971805C>T - LYST(NM_000081.3):c.2313G>A (p.Q771=), LYST(NM_001301365.1):c.2313G>A (p.Q771=) - LYST_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+4T>C r.spl? p.? Unknown - likely benign g.235971751A>G g.235808451A>G LYST(NM_000081.2):c.2363+4T>C (p.?), LYST(NM_000081.3):c.2363+4T>C, LYST(NM_001301365.1):c.2363+4T>C - LYST_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+4T>C r.spl? p.? Unknown - likely benign g.235971751A>G g.235808451A>G LYST(NM_000081.2):c.2363+4T>C (p.?), LYST(NM_000081.3):c.2363+4T>C, LYST(NM_001301365.1):c.2363+4T>C - LYST_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+4T>C r.spl? p.? Unknown - likely benign g.235971751A>G g.235808451A>G LYST(NM_000081.2):c.2363+4T>C (p.?), LYST(NM_000081.3):c.2363+4T>C, LYST(NM_001301365.1):c.2363+4T>C - LYST_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2363+4T>C r.spl? p.? Unknown - VUS g.235971751A>G g.235808451A>G LYST(NM_000081.2):c.2363+4T>C (p.?), LYST(NM_000081.3):c.2363+4T>C, LYST(NM_001301365.1):c.2363+4T>C - LYST_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+7A>T r.(=) p.(=) Unknown - likely benign g.235971748T>A - LYST(NM_000081.3):c.2363+7A>T - LYST_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2363+10dup r.(=) p.(=) Unknown - benign g.235971745dup g.235808445dup LYST(NM_000081.3):c.2363+10dupT, LYST(NM_001301365.1):c.2363+10dupT - LYST_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+10dup r.(=) p.(=) Unknown - likely benign g.235971745dup g.235808445dup LYST(NM_000081.3):c.2363+10dupT, LYST(NM_001301365.1):c.2363+10dupT - LYST_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+10dup r.(=) p.(=) Unknown - likely benign g.235971745dup g.235808445dup LYST(NM_000081.3):c.2363+10dupT, LYST(NM_001301365.1):c.2363+10dupT - LYST_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2363+17G>A r.(=) p.(=) Unknown - likely benign g.235971738C>T g.235808438C>T LYST(NM_000081.3):c.2363+17G>A - LYST_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2455G>A r.(?) p.(Ala819Thr) Unknown - VUS g.235969981C>T g.235806681C>T LYST(NM_001301365.1):c.2455G>A (p.A819T) - LYST_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2460T>G r.(?) p.(Phe820Leu) Unknown - likely benign g.235969976A>C - LYST(NM_001301365.1):c.2460T>G (p.F820L) - LYST_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2610T>C r.(?) p.(Ser870=) Unknown - likely benign g.235969826A>G g.235806526A>G LYST(NM_001301365.1):c.2610T>C (p.S870=) - LYST_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2642C>T r.(?) p.(Ala881Val) Unknown - likely benign g.235969794G>A g.235806494G>A LYST(NM_001301365.1):c.2642C>T (p.A881V) - LYST_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2646T>C r.(?) p.(Tyr882=) Unknown - likely benign g.235969790A>G - LYST(NM_000081.3):c.2646T>C (p.Y882=) - LYST_000265 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2724C>T r.(?) p.(Cys908=) Unknown - likely benign g.235969712G>A - LYST(NM_001301365.1):c.2724C>T (p.C908=) - LYST_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2754G>A r.(?) p.(Glu918=) Unknown - likely benign g.235969682C>T - LYST(NM_001301365.1):c.2754G>A (p.E918=) - LYST_000183 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2757G>A r.(?) p.(Ser919=) Unknown - likely benign g.235969679C>T g.235806379C>T LYST(NM_000081.3):c.2757G>A (p.S919=), LYST(NM_001301365.1):c.2757G>A (p.S919=) - LYST_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2757G>A r.(?) p.(Ser919=) Unknown - likely benign g.235969679C>T - LYST(NM_000081.3):c.2757G>A (p.S919=), LYST(NM_001301365.1):c.2757G>A (p.S919=) - LYST_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2769A>C r.(?) p.(Ser923=) Unknown - likely benign g.235969667T>G - LYST(NM_000081.2):c.2769A>C (p.(=)), LYST(NM_001301365.1):c.2769A>C (p.S923=) - LYST_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2769A>C r.(?) p.(Ser923=) Unknown - likely benign g.235969667T>G - LYST(NM_000081.2):c.2769A>C (p.(=)), LYST(NM_001301365.1):c.2769A>C (p.S923=) - LYST_000182 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2839G>C r.(?) p.(Glu947Gln) Unknown - VUS g.235969597C>G g.235806297C>G LYST(NM_001301365.1):c.2839G>C (p.E947Q) - LYST_000172 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2908A>C r.(?) p.(Ile970Leu) Unknown - benign g.235969528T>G g.235806228T>G LYST(NM_001301365.1):c.2908A>C (p.I970L) - LYST_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2946T>C r.(?) p.(Tyr982=) Unknown - benign g.235969490A>G g.235806190A>G LYST(NM_001301365.1):c.2946T>C (p.Y982=) - LYST_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2946T>C r.(?) p.(Tyr982=) Unknown - likely benign g.235969490A>G g.235806190A>G LYST(NM_001301365.1):c.2946T>C (p.Y982=) - LYST_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3030A>G r.(?) p.(Gly1010=) Unknown - likely benign g.235969406T>C g.235806106T>C LYST(NM_000081.3):c.3030A>G (p.G1010=), LYST(NM_001301365.1):c.3030A>G (p.G1010=) - LYST_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3030A>G r.(?) p.(Gly1010=) Unknown - likely benign g.235969406T>C g.235806106T>C LYST(NM_000081.3):c.3030A>G (p.G1010=), LYST(NM_001301365.1):c.3030A>G (p.G1010=) - LYST_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3031A>G r.(?) p.(Lys1011Glu) Unknown - likely benign g.235969405T>C - LYST(NM_000081.3):c.3031A>G (p.K1011E) - LYST_000253 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3050G>A r.(?) p.(Ser1017Asn) Unknown - benign g.235969386C>T g.235806086C>T LYST(NM_000081.2):c.3050G>A (p.(Ser1017Asn)), LYST(NM_000081.3):c.3050G>A (p.S1017N) - LYST_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3050G>A r.(?) p.(Ser1017Asn) Unknown - benign g.235969386C>T g.235806086C>T LYST(NM_000081.2):c.3050G>A (p.(Ser1017Asn)), LYST(NM_000081.3):c.3050G>A (p.S1017N) - LYST_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3083C>G r.(?) p.(Ser1028Cys) Unknown - VUS g.235969353G>C - LYST(NM_000081.3):c.3083C>G (p.S1028C), LYST(NM_000081.4):c.3083C>G (p.(Ser1028Cys)), LYST(NM_001301365.1):c.3083C>G (p.S1028C) - LYST_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3083C>G r.(?) p.(Ser1028Cys) Unknown - likely benign g.235969353G>C - LYST(NM_000081.3):c.3083C>G (p.S1028C), LYST(NM_000081.4):c.3083C>G (p.(Ser1028Cys)), LYST(NM_001301365.1):c.3083C>G (p.S1028C) - LYST_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3083C>G r.(?) p.(Ser1028Cys) Unknown - VUS g.235969353G>C - LYST(NM_000081.3):c.3083C>G (p.S1028C), LYST(NM_000081.4):c.3083C>G (p.(Ser1028Cys)), LYST(NM_001301365.1):c.3083C>G (p.S1028C) - LYST_000222 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3103A>G r.(?) p.(Lys1035Glu) Unknown - VUS g.235969333T>C - LYST(NM_001301365.1):c.3103A>G (p.K1035E) - LYST_000244 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3119C>G r.(?) p.(Ser1040Cys) Unknown - likely benign g.235969317G>C - LYST(NM_000081.4):c.3119C>G (p.(Ser1040Cys)) - LYST_000279 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3123G>A r.(?) p.(Leu1041=) Unknown - likely benign g.235969313C>T g.235806013C>T LYST(NM_001301365.1):c.3123G>A (p.L1041=) - LYST_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3134G>A r.(?) p.(Ser1045Asn) Unknown - likely benign g.235969302C>T g.235806002C>T LYST(NM_001301365.1):c.3134G>A (p.S1045N) - LYST_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3137A>G r.(?) p.(Asp1046Gly) Unknown - VUS g.235969299T>C g.235805999T>C LYST(NM_001301365.1):c.3137A>G (p.D1046G) - LYST_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3177T>C r.(?) p.(Ala1059=) Unknown - likely benign g.235969259A>G g.235805959A>G LYST(NM_000081.3):c.3177T>C (p.A1059=), LYST(NM_001301365.1):c.3177T>C (p.A1059=) - LYST_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3177T>C r.(?) p.(Ala1059=) Unknown - likely benign g.235969259A>G g.235805959A>G LYST(NM_000081.3):c.3177T>C (p.A1059=), LYST(NM_001301365.1):c.3177T>C (p.A1059=) - LYST_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3310C>T r.(?) p.(Arg1104*) Both (homozygous) - VUS g.235969126G>A g.235805826G>A - - LYST_000002 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.3310C>T r.(?) p.(Arg1104*) Parent #1 - likely pathogenic g.235969126G>A g.235805826G>A - - LYST_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338652 Germline - 1/2777 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.3359G>T r.(?) p.(Ser1120Ile) Unknown - likely benign g.235969077C>A g.235805777C>A LYST(NM_000081.3):c.3359G>T (p.S1120I) - LYST_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3394-14T>C r.(=) p.(=) Unknown - likely benign g.235967979A>G g.235804679A>G LYST(NM_000081.3):c.3394-14T>C, LYST(NM_001301365.1):c.3394-14T>C - LYST_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3394-14T>C r.(=) p.(=) Unknown - likely benign g.235967979A>G - LYST(NM_000081.3):c.3394-14T>C, LYST(NM_001301365.1):c.3394-14T>C - LYST_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3394-5C>T r.spl? p.? Unknown - likely benign g.235967970G>A g.235804670G>A LYST(NM_001301365.1):c.3394-5C>T - LYST_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3507C>T r.(?) p.(Leu1169=) Unknown - benign g.235967852G>A g.235804552G>A LYST(NM_000081.3):c.3507C>T (p.L1169=), LYST(NM_001301365.1):c.3507C>T (p.L1169=) - LYST_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3507C>T r.(?) p.(Leu1169=) Unknown - likely benign g.235967852G>A g.235804552G>A LYST(NM_000081.3):c.3507C>T (p.L1169=), LYST(NM_001301365.1):c.3507C>T (p.L1169=) - LYST_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3507C>T r.(?) p.(Leu1169=) Unknown - likely benign g.235967852G>A g.235804552G>A LYST(NM_000081.3):c.3507C>T (p.L1169=), LYST(NM_001301365.1):c.3507C>T (p.L1169=) - LYST_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3555+10A>G r.(=) p.(=) Unknown - likely benign g.235967794T>C g.235804494T>C LYST(NM_000081.3):c.3555+10A>G - LYST_000171 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3574_3576del r.(?) p.(Glu1192del) Unknown - VUS g.235966348_235966350del - LYST(NM_000081.3):c.3574_3576delGAA (p.(Glu1192del)), LYST(NM_001301365.1):c.3574_3576delGAA (p.E1192del) - LYST_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3574_3576del r.(?) p.(Glu1192del) Unknown - VUS g.235966348_235966350del - LYST(NM_000081.3):c.3574_3576delGAA (p.(Glu1192del)), LYST(NM_001301365.1):c.3574_3576delGAA (p.E1192del) - LYST_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3647T>C r.(?) p.(Val1216Ala) Unknown - likely benign g.235966273A>G g.235802973A>G LYST(NM_000081.3):c.3647T>C (p.V1216A), LYST(NM_001301365.1):c.3647T>C (p.V1216A) - LYST_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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