Full data view for gene TMC8

Information The variants shown are described using the NM_152468.4 transcript reference sequence.

152 entries on 2 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.-17978G>A r.(?) p.(=) Unknown - likely benign g.76109263G>A - TMC6(NM_001127198.2):c.2384C>T (p.P795L) - TMC8_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-17945C>T r.(?) p.(=) Unknown - benign g.76109296C>T g.78113215C>T TMC6(NM_001127198.5):c.2355-4G>A - TMC6_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-17940A>G r.(?) p.(=) Unknown - likely benign g.76109301A>G g.78113220A>G TMC6(NM_001127198.2):c.2355-9T>C - TMC6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-17584C>T r.(?) p.(=) Unknown - VUS g.76109657C>T - TMC6(NM_007267.7):c.2326G>A (p.E776K) - TMC8_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13889T>C r.(?) p.(=) Unknown - likely benign g.76113352T>C - TMC6(NM_007267.6):c.2275A>G (p.N759D) - TMC8_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13789_-13778del r.(?) p.(=) Unknown - likely benign g.76113452_76113463del - TMC6(NM_007267.6):c.2199-31_2199-20delTGGGCCCTGCCC - TMC8_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-13693C>T r.(?) p.(=) Unknown - likely pathogenic g.76113548C>T - TMC6(NM_001127198.5):c.2198+1G>A - TMC8_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13602G>A r.(?) p.(=) Unknown - likely benign g.76113639G>A g.78117558G>A TMC6(NM_001127198.2):c.2108C>T (p.A703V) - TMC8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13587A>G r.(?) p.(=) Unknown - likely benign g.76113654A>G - TMC6(NM_007267.6):c.2093T>C (p.V698A) - TMC8_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-13502C>T r.(?) p.(=) Unknown - VUS g.76113739C>T g.78117658C>T TMC6(NM_001127198.5):c.2022-14G>A, TMC6(NM_007267.6):c.2022-14G>A - TMC6_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13403C>A r.(?) p.(=) Unknown - benign g.76113838C>A g.78117757C>A - - TMC6_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13299C>T r.(?) p.(=) Unknown - likely benign g.76113942C>T - TMC6(NM_007267.7):c.1962G>A (p.T654=) - TMC8_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-13287G>A r.(?) p.(=) Unknown - benign g.76113954G>A g.78117873G>A - - TMC6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-13207G>A r.(?) p.(=) Unknown - likely benign g.76114034G>A - TMC6(NM_007267.6):c.1888-18C>T - TMC8_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-12147G>A r.(?) p.(=) Unknown - likely benign g.76115094G>A g.78119013G>A TMC6(NM_001127198.2):c.1845C>T (p.A615=) - TMC6_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-12060A>T r.(?) p.(=) Unknown - benign g.76115181A>T g.78119100A>T - - TMC6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11940G>A r.(?) p.(=) Unknown - benign g.76115301G>A g.78119220G>A - - TMC6_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11888T>C r.(?) p.(=) Unknown - benign g.76115353T>C g.78119272T>C - - TMC6_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11847C>A r.(?) p.(=) Unknown - VUS g.76115394C>A - TMC6(NM_001127198.2):c.1795G>T (p.G599W) - TMC8_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11800C>T r.(?) p.(=) Unknown - likely benign g.76115441C>T - TMC6(NM_007267.6):c.1748G>A (p.R583Q) - TMC8_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11762del r.(?) p.(=) Unknown - likely benign g.76115479del g.78119398del TMC6(NM_001127198.5):c.1716-6delA - TMC6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10483G>A r.(?) p.(=) Unknown - VUS g.76116758G>A g.78120677G>A TMC6(NM_001127198.2):c.1691C>T (p.T564M) - TMC8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10404C>A r.(?) p.(=) Unknown - VUS g.76116837C>A - TMC6(NM_001127198.2):c.1612G>T (p.G538C) - TMC8_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10359T>C r.(?) p.(=) Unknown - likely benign g.76116882T>C - TMC6(NM_007267.6):c.1567A>G (p.T523A) - TMC8_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10324C>T r.(?) p.(=) Unknown - likely benign g.76116917C>T g.78120836C>T TMC6(NM_001127198.2):c.1536-4G>A, TMC6(NM_007267.6):c.1536-4G>A - TMC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10324C>T r.(?) p.(=) Unknown - likely benign g.76116917C>T g.78120836C>T TMC6(NM_001127198.2):c.1536-4G>A, TMC6(NM_007267.6):c.1536-4G>A - TMC6_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10317C>T r.(?) p.(=) Unknown - likely benign g.76116924C>T - TMC6(NM_007267.6):c.1536-11G>A - TMC8_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10240C>T r.(?) p.(=) Unknown - benign g.76117001C>T g.78120920C>T - - TMC6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10117G>A r.(?) p.(=) Unknown - likely benign g.76117124G>A g.78121043G>A TMC6(NM_007267.6):c.1505C>T (p.P502L) - TMC6_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-10083G>A r.(?) p.(=) Unknown - benign g.76117158G>A - TMC6(NM_007267.6):c.1471C>T (p.R491C) - TMC8_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-10040G>A r.(?) p.(=) Unknown - likely benign g.76117201G>A g.78121120G>A TMC6(NM_001127198.2):c.1428C>T (p.P476=) - TMC6_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9514C>A r.(?) p.(=) Unknown - likely benign g.76117727C>A g.78121646C>A TMC6(NM_001127198.2):c.1293G>T (p.A431=) - TMC6_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-9497C>T r.(?) p.(=) Unknown - benign g.76117744C>T g.78121663C>T TMC6(NM_001127198.2):c.1276G>A (p.G426R), TMC6(NM_001127198.5):c.1276G>A (p.G426R) - TMC6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9497C>T r.(?) p.(=) Unknown - likely benign g.76117744C>T - TMC6(NM_001127198.2):c.1276G>A (p.G426R), TMC6(NM_001127198.5):c.1276G>A (p.G426R) - TMC6_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9490G>A r.(?) p.(=) Unknown - likely benign g.76117751G>A - TMC6(NM_001127198.2):c.1269C>T (p.S423=) - TMC8_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9487C>G r.(?) p.(=) Unknown - likely benign g.76117754C>G g.78121673C>G TMC6(NM_001127198.1):c.1266G>C (p.(Arg422Ser)) - TMC6_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-9458C>G r.(?) p.(=) Unknown - VUS g.76117783C>G - TMC6(NM_007267.6):c.1237G>C (p.A413P), TMC6(NM_007267.7):c.1237G>C (p.A413P) - TMC8_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-9458C>G r.(?) p.(=) Unknown - likely benign g.76117783C>G - TMC6(NM_007267.6):c.1237G>C (p.A413P), TMC6(NM_007267.7):c.1237G>C (p.A413P) - TMC8_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-8407G>C r.(?) p.(=) Unknown - benign g.76118834G>C g.78122753G>C TMC6(NM_001127198.5):c.1083-4C>G - TMC6_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7176A>G r.(?) p.(=) Unknown - benign g.76120065A>G g.78123984A>G TMC6(NM_001127198.5):c.1082+5T>C - TMC6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-7176A>G r.(?) p.(=) Unknown - benign g.76120065A>G g.78123984A>G TMC6(NM_001127198.5):c.1082+5T>C - TMC6_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-7172C>T r.(?) p.(=) Unknown - VUS g.76120069C>T - TMC6(NM_001127198.2):c.1082+1G>A - TMC8_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7160G>A r.(?) p.(=) Unknown - likely benign g.76120081G>A g.78124000G>A TMC6(NM_001127198.2):c.1071C>T (p.T357=) - TMC6_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-7075G>A r.(?) p.(=) Unknown - likely benign g.76120166G>A g.78124085G>A TMC6(NM_001127198.2):c.986C>T (p.T329I) - TMC6_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6653T>C r.(?) p.(=) Unknown - likely benign g.76120588T>C g.78124507T>C - - TMC6_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6627G>A r.(?) p.(=) Unknown - likely benign g.76120614G>A - TMC6(NM_001127198.2):c.882C>T (p.L294=) - TMC8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6604C>T r.(?) p.(=) Unknown - benign g.76120637C>T g.78124556C>T - - TMC6_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6568C>A r.(?) p.(=) Unknown - VUS g.76120673C>A - TMC6(NM_001127198.2):c.823G>T (p.V275F) - TMC8_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6451G>A r.(?) p.(=) Unknown - VUS g.76120790G>A - TMC6(NM_001127198.5):c.706C>T (p.R236C) - TMC8_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6449T>C r.(?) p.(=) Unknown - benign g.76120792T>C - TMC6(NM_007267.6):c.704A>G (p.K235R) - TMC6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6432C>T r.(?) p.(=) Unknown - likely benign g.76120809C>T - TMC6(NM_007267.6):c.687G>A (p.P229=) - TMC8_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6287G>A r.(?) p.(=) Unknown - likely benign g.76120954G>A g.78124873G>A TMC6(NM_007267.6):c.633+16C>T - TMC8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6248G>A r.(?) p.(=) Unknown - likely benign g.76120993G>A g.78124912G>A TMC6(NM_001127198.2):c.610C>T (p.R204W), TMC6(NM_001127198.5):c.610C>T (p.R204W) - TMC6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6248G>A r.(?) p.(=) Unknown - benign g.76120993G>A g.78124912G>A TMC6(NM_001127198.2):c.610C>T (p.R204W), TMC6(NM_001127198.5):c.610C>T (p.R204W) - TMC6_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6223G>A r.(?) p.(=) Unknown - likely benign g.76121018G>A g.78124937G>A TMC6(NM_001127198.2):c.585C>T (p.S195=) - TMC6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5992G>A r.(?) p.(=) Unknown - VUS g.76121249G>A - TMC6(NM_001127198.2):c.526C>T (p.R176C) - TMC8_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5962G>A r.(?) p.(=) Unknown - VUS g.76121279G>A g.78125198G>A TMC6(NM_001127198.2):c.496C>T (p.R166C) - TMC6_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5923G>A r.(?) p.(=) Unknown - benign g.76121318G>A g.78125237G>A TMC6(NM_001127198.2):c.457C>T (p.L153F) - TMC6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5398C>T r.(?) p.(=) Unknown - VUS g.76121843C>T g.78125762C>T TMC6(NM_001127198.2):c.394G>A (p.D132N) - TMC6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5397G>A r.(?) p.(=) Unknown - benign g.76121844G>A g.78125763G>A TMC6(NM_001127198.2):c.393C>T (p.Y131=) - TMC6_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5381G>A r.(?) p.(=) Unknown - VUS g.76121860G>A - TMC6(NM_007267.7):c.377C>T (p.P126L) - TMC8_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5377A>G r.(?) p.(=) Unknown - benign g.76121864A>G g.78125783A>G TMC6(NM_001127198.5):c.373T>C (p.W125R) - TMC6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5377A>G r.(?) p.(=) Unknown - benign g.76121864A>G g.78125783A>G TMC6(NM_001127198.5):c.373T>C (p.W125R) - TMC6_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5373G>A r.(?) p.(=) Unknown - likely benign g.76121868G>A - TMC6(NM_007267.6):c.369C>T (p.S123=) - TMC8_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5358C>T r.(?) p.(=) Unknown - likely benign g.76121883C>T g.78125802C>T TMC6(NM_001127198.2):c.354G>A (p.G118=) - TMC6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5356C>T r.(?) p.(=) Unknown - likely benign g.76121885C>T - TMC6(NM_007267.6):c.352G>A (p.G118R) - TMC8_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5344G>A r.(?) p.(=) Unknown - VUS g.76121897G>A - TMC6(NM_007267.7):c.340C>T (p.R114W) - TMC8_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5319C>T r.(?) p.(=) Unknown - likely benign g.76121922C>T g.78125841C>T TMC6(NM_001127198.5):c.315G>A (p.(Thr105=)), TMC6(NM_007267.6):c.315G>A (p.T105=) - TMC6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5319C>T r.(?) p.(=) Unknown - likely benign g.76121922C>T - TMC6(NM_001127198.5):c.315G>A (p.(Thr105=)), TMC6(NM_007267.6):c.315G>A (p.T105=) - TMC6_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5260G>C r.(?) p.(=) Unknown - likely benign g.76121981G>C - TMC6(NM_007267.6):c.272-16C>G - TMC8_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4890C>T r.(?) p.(=) Unknown - likely benign g.76122351C>T - TMC6(NM_007267.6):c.271+7G>A - TMC8_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4642G>A r.(?) p.(=) Unknown - likely benign g.76122599G>A g.78126518G>A TMC6(NM_007267.6):c.181+6C>T - TMC8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4590C>T r.(?) p.(=) Unknown - likely benign g.76122651C>T g.78126570C>T TMC6(NM_001127198.2):c.135G>A (p.T45=), TMC6(NM_007267.6):c.135G>A (p.T45=) - TMC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4590C>T r.(?) p.(=) Unknown - likely benign g.76122651C>T - TMC6(NM_001127198.2):c.135G>A (p.T45=), TMC6(NM_007267.6):c.135G>A (p.T45=) - TMC6_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4355C>T r.(?) p.(=) Unknown - likely benign g.76122886C>T g.78126805C>T TMC6(NM_001127198.2):c.28G>A (p.D10N) - TMC8_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.77T>C r.(?) p.(Met26Thr) Unknown - benign g.76127746T>C g.78131665T>C TMC8(NM_152468.4):c.77T>C (p.M26T) - TMC6_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.149+39dup r.(=) p.(=) Unknown - benign g.76127857dup g.78131776dup - - TMC8_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.150-7C>T r.(=) p.(=) Unknown - likely benign g.76127956C>T - TMC8(NM_152468.4):c.150-7C>T - TMC8_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.188G>A r.(?) p.(Trp63*) Both (homozygous) - pathogenic (recessive) g.76128001G>A g.78131920G>A - - TMC8_000024 - - - - Germline - - - - - DNA PCR - - EV - - - M yes Brazil Unknown 14y - - - 1 Amir Hossein Saeidian
?/. - c.226C>T r.(?) p.(Arg76Cys) Unknown - VUS g.76128039C>T g.78131958C>T TMC8(NM_152468.4):c.226C>T (p.R76C) - TMC6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.256C>G r.(?) p.(Arg86Gly) Unknown - likely benign g.76128069C>G g.78131988C>G TMC8(NM_152468.4):c.256C>G (p.R86G) - TMC6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.279G>A r.(?) p.(Gly93=) Unknown - benign g.76128092G>A g.78132011G>A TMC8(NM_152468.4):c.279G>A (p.G93=) - TMC6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>A r.(?) p.(Gly93=) Unknown - likely benign g.76128092G>A - TMC8(NM_152468.4):c.279G>A (p.G93=) - TMC6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.299-20A>T r.(=) p.(=) Unknown - VUS g.76128420A>T g.78132339A>T TMC6(NM_007267.6):c.-75+2T>A - TMC8_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.326_338del r.(?) p.(Tyr109Serfs*10) Both (homozygous) - pathogenic (recessive) g.76128467_76128479del g.78132386_78132398del 325_337delTACTTCACCTTCC - TMC8_000025 - - - - Germline - - - - - DNA PCR - - EV - - - M yes - Europe-C 60y - - - 1 Amir Hossein Saeidian
-?/. - c.480G>A r.(?) p.(Pro160=) Unknown - likely benign g.76128900G>A g.78132819G>A TMC8(NM_152468.4):c.480G>A (p.P160=) - TMC6_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.559G>A r.(?) p.(Gly187Ser) Unknown - VUS g.76129514G>A - TMC8(NM_152468.5):c.559G>A (p.G187S) - TMC8_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.561_583del r.(?) p.(Ala188Glnfs*71) Both (homozygous) - pathogenic (recessive) g.76129516_76129538del g.78133435_78133457del 561_583delTGCGTACCGAGTGGGGCCGGAGA - TMC8_000026 - - - - Germline - - - - - DNA PCR - - EV - - - M no Mexico Unknown 22y - - - 1 Amir Hossein Saeidian
+/. 6 c.568C>T r.(?) p.(Arg190*) Both (homozygous) - pathogenic (recessive) g.76129523C>T g.78133442C>T - - TMC8_000027 - - - - Germline - - - - - DNA PCR - - EV - - - M yes China Unknown 24y - - - 1 Amir Hossein Saeidian
+/. 7 c.571del r.(?) p.(Val191Trpfs*35) Both (homozygous) - pathogenic (recessive) g.76129526del g.78133445del 571_571delG - TMC8_000031 - - - - Germline - - - - - DNA PCR - - EV - - - M no - Europe-C 58y - - - 1 Amir Hossein Saeidian
-?/. - c.579G>A r.(?) p.(Pro193=) Unknown - likely benign g.76129534G>A - TMC8(NM_152468.4):c.579G>A (p.P193=) - TMC8_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660T>C r.(?) p.(Thr220=) Unknown - likely benign g.76129615T>C - TMC8(NM_152468.4):c.660T>C (p.T220=) - TMC8_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.660T>C r.(?) p.(Thr220=) Unknown - likely benign g.76129615T>C - TMC8(NM_152468.4):c.660T>C (p.T220=) - TMC8_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.664C>T r.(?) p.(Arg222Trp) Unknown - VUS g.76129619C>T g.78133538C>T TMC8(NM_152468.4):c.664C>T (p.R222W) - TMC6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.668+13T>C r.(=) p.(=) Unknown - benign g.76129636T>C g.78133555T>C TMC8(NM_152468.5):c.668+13T>C - TMC8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.668+13T>C r.(=) p.(=) Unknown - benign g.76129636T>C g.78133555T>C TMC8(NM_152468.5):c.668+13T>C - TMC8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.669-4G>C r.spl? p.? Unknown - benign g.76129930G>C g.78133849G>C TMC8(NM_152468.4):c.669-4G>C - TMC8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.720G>A r.(?) p.(Ala240=) Unknown - likely benign g.76129985G>A g.78133904G>A TMC8(NM_152468.4):c.720G>A (p.A240=) - TMC6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.755del r.(?) p.(Phe252Serfs*32) Both (homozygous) - pathogenic (recessive) g.76130020del g.78133939del 754_755delT - TMC8_000028 - - - - Germline - - - - - DNA PCR - - EV - - - M yes Algeria Unknown 28y - - - 1 Amir Hossein Saeidian
-?/. - c.816+10C>T r.(=) p.(=) Unknown - likely benign g.76130091C>T g.78134010C>T TMC8(NM_152468.4):c.816+10C>T - TMC6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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