Full data view for gene TTC7A

Information The variants shown are described using the NM_020458.2 transcript reference sequence.

113 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.-19568273_*14780119dup r.0? p.0? Unknown - VUS g.27600408_62081181dup - chr2:27600408–62081181 - FSHR_000025 - PubMed: Ellingsford 2018 - - Germline - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33672del r.(?) p.(=) Unknown - pathogenic g.47135009del g.46907870del MCFD2(NM_001171508.2):c.249delT (p.D83Efs*9) - MCFD2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33672del r.(?) p.(=) Unknown - pathogenic g.47135009del - MCFD2(NM_001171508.2):c.249delT (p.D83Efs*9) - MCFD2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-24303C>T r.(?) p.(=) Unknown - likely benign g.47144378C>T - TTC7A(NM_001288953.1):c.44C>T (p.S15F) - MCFD2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-24250C>T r.(?) p.(=) Unknown - likely benign g.47144431C>T - TTC7A(NM_001288953.2):c.82+15C>T - MCFD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44G>A r.(?) p.(Ser15Asn) Unknown - VUS g.47168724G>A - TTC7A(NM_001288951.2):c.44G>A (p.S15N) - MCFD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.55C>A r.(?) p.(Arg19Ser) Unknown - VUS g.47168735C>A g.46941596C>A TTC7A(NM_001288951.1):c.55C>A (p.R19S) - TTC7A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.62G>T r.(?) p.(Arg21Leu) Unknown - VUS g.47168742G>T - TTC7A(NM_020458.4):c.62G>T (p.(Arg21Leu)) - MCFD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.94C>G r.(?) p.(Leu32Val) Unknown - benign g.47168774C>G g.46941635C>G TTC7A(NM_001288951.1):c.94C>G (p.L32V), TTC7A(NM_020458.4):c.94C>G (p.L32V) - TTC7A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.94C>G r.(?) p.(Leu32Val) Unknown - likely benign g.47168774C>G - TTC7A(NM_001288951.1):c.94C>G (p.L32V), TTC7A(NM_020458.4):c.94C>G (p.L32V) - TTC7A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.158G>C r.(?) p.(Ser53Thr) Unknown - benign g.47168838G>C - TTC7A(NM_020458.4):c.158G>C (p.S53T) - TTC7A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176C>G r.(?) p.(Pro59Arg) Unknown - likely benign g.47168856C>G g.46941717C>G TTC7A(NM_001288951.1):c.176C>G (p.P59R), TTC7A(NM_020458.2):c.176C>G (p.(Pro59Arg)), TTC7A(NM_020458.4):c.176C>G (p.P59R) - TTC7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176C>G r.(?) p.(Pro59Arg) Unknown - likely benign g.47168856C>G g.46941717C>G TTC7A(NM_001288951.1):c.176C>G (p.P59R), TTC7A(NM_020458.2):c.176C>G (p.(Pro59Arg)), TTC7A(NM_020458.4):c.176C>G (p.P59R) - TTC7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.176C>G r.(?) p.(Pro59Arg) Unknown - likely benign g.47168856C>G - TTC7A(NM_001288951.1):c.176C>G (p.P59R), TTC7A(NM_020458.2):c.176C>G (p.(Pro59Arg)), TTC7A(NM_020458.4):c.176C>G (p.P59R) - TTC7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.189C>G r.(?) p.(Asp63Glu) Unknown - VUS g.47177506C>G - TTC7A(NM_020458.4):c.189C>G (p.D63E) - TTC7A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.198A>G r.(?) p.(Lys66=) Unknown - likely benign g.47177515A>G g.46950376A>G TTC7A(NM_001288951.1):c.198A>G (p.K66=) - TTC7A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.208G>A r.(?) p.(Ala70Thr) Unknown - VUS g.47177525G>A - TTC7A(NM_001288951.1):c.208G>A (p.A70T) - TTC7A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.211G>A r.(?) p.(Glu71Lys) Maternal (confirmed) ACMG pathogenic g.47177528G>A g.46950389G>A - - TTC7A_000071 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat43,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - 1 Johan den Dunnen
+/. - c.238G>T r.(?) p.(Glu80*) Unknown - pathogenic g.47177555G>T - TTC7A(NM_001288951.1):c.238G>T (p.E80*) - TTC7A_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.251A>G r.(?) p.(Lys84Arg) Unknown - likely benign g.47177568A>G g.46950429A>G TTC7A(NM_001288951.1):c.251A>G (p.K84R) - TTC7A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.320G>A r.(?) p.(Ser107Asn) Unknown - VUS g.47177637G>A - - - TTC7A_000055 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - VUS g.47184066G>A - - - TTC7A_000056 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - VUS g.47184066G>A - - - TTC7A_000056 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.437G>A r.(?) p.(Arg146Gln) Unknown - VUS g.47184066G>A - - - TTC7A_000056 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.477G>T r.(?) p.(Leu159=) Unknown - likely benign g.47184106G>T - TTC7A(NM_001288951.1):c.477G>T (p.L159=) - TTC7A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517+3A>G r.spl? p.? Unknown - VUS g.47184149A>G g.46957010A>G TTC7A(NM_001288951.1):c.517+3A>G, TTC7A(NM_001288951.2):c.517+3A>G - TTC7A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.517+3A>G r.spl? p.? Unknown - likely benign g.47184149A>G - TTC7A(NM_001288951.1):c.517+3A>G, TTC7A(NM_001288951.2):c.517+3A>G - TTC7A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.517+3A>G r.spl? p.? Unknown - VUS g.47184149A>G - TTC7A(NM_001288951.1):c.517+3A>G, TTC7A(NM_001288951.2):c.517+3A>G - TTC7A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518-17C>T r.(=) p.(=) Unknown - likely benign g.47202095C>T g.46974956C>T TTC7A(NM_001288951.2):c.518-17C>T - TTC7A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.518G>T r.(?) p.(Gly173Val) Unknown - VUS g.47202112G>T g.46974973G>T - - TTC7A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533G>A r.(?) p.(Arg178His) Unknown - VUS g.47202127G>A - TTC7A(NM_001288951.1):c.533G>A (p.R178H) - TTC7A_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556C>T r.(?) p.(Arg186Cys) Unknown - VUS g.47202150C>T - TTC7A(NM_001288951.1):c.556C>T (p.R186C) - TTC7A_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.563G>A r.(?) p.(Arg188His) Unknown - likely benign g.47202157G>A g.46975018G>A TTC7A(NM_001288951.1):c.563G>A (p.R188H), TTC7A(NM_020458.2):c.563G>A (p.(Arg188His)) - TTC7A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.563G>A r.(?) p.(Arg188His) Unknown - likely benign g.47202157G>A g.46975018G>A TTC7A(NM_001288951.1):c.563G>A (p.R188H), TTC7A(NM_020458.2):c.563G>A (p.(Arg188His)) - TTC7A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.563G>T r.(?) p.(Arg188Leu) Unknown - benign g.47202157G>T - TTC7A(NM_020458.4):c.563G>T (p.R188L) - TTC7A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.607G>A r.(?) p.(Ala203Thr) Unknown - VUS g.47202201G>A - TTC7A(NM_020458.2):c.607G>A (p.(Ala203Thr)) - TTC7A_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640T>C r.(?) p.(=) Unknown - likely benign g.47202234T>C - TTC7A(NM_020458.4):c.640T>C (p.L214=) - TTC7A_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.649-11T>C r.(=) p.(=) Unknown - likely benign g.47205920T>C - TTC7A(NM_020458.4):c.649-11T>C - TTC7A_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.649-10C>T r.(=) p.(=) Unknown - benign g.47205921C>T g.46978782C>T TTC7A(NM_001288951.1):c.649-10C>T, TTC7A(NM_001288951.2):c.649-10C>T - TTC7A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.649-10C>T r.(=) p.(=) Unknown - likely benign g.47205921C>T g.46978782C>T TTC7A(NM_001288951.1):c.649-10C>T, TTC7A(NM_001288951.2):c.649-10C>T - TTC7A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.765-13G>A r.(=) p.(=) Unknown - likely benign g.47220576G>A g.46993437G>A TTC7A(NM_001288951.2):c.765-13G>A - TTC7A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806G>A r.(?) p.(Arg269Gln) Unknown - VUS g.47220630G>A g.46993491G>A TTC7A(NM_001288951.1):c.806G>A (p.R269Q), TTC7A(NM_001288951.2):c.806G>A (p.R269Q) - TTC7A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806G>A r.(?) p.(Arg269Gln) Unknown - VUS g.47220630G>A g.46993491G>A TTC7A(NM_001288951.1):c.806G>A (p.R269Q), TTC7A(NM_001288951.2):c.806G>A (p.R269Q) - TTC7A_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.806G>A r.(?) p.(Arg269Gln) Unknown - VUS g.47220630G>A - - - TTC7A_000030 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.863C>T r.(?) p.(Ala288Val) Unknown - VUS g.47221515C>T - TTC7A(NM_001288951.1):c.863C>T (p.A288V) - TTC7A_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.870C>G r.(?) p.(Val290=) Unknown - benign g.47221522C>G g.46994383C>G TTC7A(NM_001288951.1):c.870C>G (p.V290=), TTC7A(NM_020458.4):c.870C>G (p.V290=) - TTC7A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>G r.(?) p.(Val290=) Unknown - likely benign g.47221522C>G - TTC7A(NM_001288951.1):c.870C>G (p.V290=), TTC7A(NM_020458.4):c.870C>G (p.V290=) - TTC7A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899A>G r.(?) p.(Tyr300Cys) Unknown - VUS g.47221551A>G - TTC7A(NM_020458.4):c.899A>G (p.Y300C) - TTC7A_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.974G>A r.(?) p.(Arg325Gln) Unknown - VUS g.47221626G>A g.46994487G>A TTC7A(NM_001288951.1):c.974G>A (p.R325Q), TTC7A(NM_020458.4):c.974G>A (p.R325Q) - TTC7A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.974G>A r.(?) p.(Arg325Gln) Unknown - likely benign g.47221626G>A - TTC7A(NM_001288951.1):c.974G>A (p.R325Q), TTC7A(NM_020458.4):c.974G>A (p.R325Q) - TTC7A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8i c.1001+3_1001+6del r.spl p.? Paternal (confirmed) ACMG likely pathogenic g.47221656_47221659del g.46994517_46994520del c.1001+3_1001+6delAAGT - TTC7A_000072 - PubMed: Stray-Pedersen 2017 - - Germline - - - - - DNA SEQ-NG - - IMD Pat43,1 PubMed: Stray-Pedersen 2017 - F - United States Europe - - - - 1 Johan den Dunnen
?/. - c.1001+5G>A r.spl? p.? Unknown - VUS g.47221658G>A - TTC7A(NM_020458.4):c.1001+5G>A - TTC7A_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026C>T r.(?) p.(Ile342=) Unknown - likely benign g.47222299C>T g.46995160C>T TTC7A(NM_001288951.1):c.1026C>T (p.I342=), TTC7A(NM_001288951.2):c.1026C>T (p.I342=) - TTC7A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1026C>T r.(?) p.(Ile342=) Unknown - likely benign g.47222299C>T g.46995160C>T TTC7A(NM_001288951.1):c.1026C>T (p.I342=), TTC7A(NM_001288951.2):c.1026C>T (p.I342=) - TTC7A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095G>T r.(?) p.(Val365=) Unknown - likely benign g.47233090G>T g.47005951G>T TTC7A(NM_001288951.1):c.1095G>T (p.V365=), TTC7A(NM_001288951.2):c.1095G>T (p.V365=) - TTC7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095G>T r.(?) p.(Val365=) Unknown - likely benign g.47233090G>T g.47005951G>T TTC7A(NM_001288951.1):c.1095G>T (p.V365=), TTC7A(NM_001288951.2):c.1095G>T (p.V365=) - TTC7A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1097C>T r.(?) p.(Pro366Leu) Unknown - VUS g.47233092C>T g.47005953C>T TTC7A(NM_001288951.2):c.1097C>T (p.P366L) - TTC7A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1125C>T r.(?) p.(Ser375=) Unknown - VUS g.47233120C>T g.47005981C>T TTC7A(NM_001288951.1):c.1125C>T (p.S375=) - TTC7A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1189G>A r.(?) p.(Val397Ile) Unknown - likely benign g.47233184G>A g.47006045G>A TTC7A(NM_001288951.1):c.1189G>A (p.V397I) - TTC7A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1189G>A r.(?) p.(Val397Ile) Unknown - VUS g.47233184G>A - - - TTC7A_000034 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1189G>A r.(?) p.(Val397Ile) Unknown - VUS g.47233184G>A - - - TTC7A_000034 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1190T>A r.(?) p.(Val397Asp) Unknown - VUS g.47233185T>A - - - TTC7A_000058 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
+/. 11 c.1322_1323del r.(?) p.(Val441Glufs*57) Both (homozygous) ACMG pathogenic (recessive) g.47238504_47238505del g.47011365_47011366del - - TTC7A_000080 - - - - Germline - - - - - DNA SEQ-NG cultured amniotic fluid cells WES GIDID - #87 - M yes - - - - - - 1 Frederike Leonie Harms
-?/. - c.1348G>A r.(?) p.(Val450Met) Unknown - likely benign g.47238530G>A g.47011391G>A TTC7A(NM_001288951.1):c.1348G>A (p.V450M), TTC7A(NM_001288951.2):c.1348G>A (p.V450M), TTC7A(NM_020458.2):c.1348G>A (p.(Val450Met)) - TTC7A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1348G>A r.(?) p.(Val450Met) Unknown - likely benign g.47238530G>A g.47011391G>A TTC7A(NM_001288951.1):c.1348G>A (p.V450M), TTC7A(NM_001288951.2):c.1348G>A (p.V450M), TTC7A(NM_020458.2):c.1348G>A (p.(Val450Met)) - TTC7A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1348G>A r.(?) p.(Val450Met) Parent #1 - benign g.47238530G>A g.47011391G>A - - TTC7A_000035 5 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114276698 Germline - 5/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-/. - c.1348G>A r.(?) p.(Val450Met) Both (homozygous) - benign g.47238530G>A g.47011391G>A - - TTC7A_000035 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs114276698 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1348G>A r.(?) p.(Val450Met) Unknown - likely benign g.47238530G>A - TTC7A(NM_001288951.1):c.1348G>A (p.V450M), TTC7A(NM_001288951.2):c.1348G>A (p.V450M), TTC7A(NM_020458.2):c.1348G>A (p.(Val450Met)) - TTC7A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1355T>C r.(?) p.(Leu452Pro) Unknown - VUS g.47238537T>C g.47011398T>C - - TTC7A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1365G>A r.(?) p.(Ala455=) Unknown - likely benign g.47238547G>A - TTC7A(NM_001288951.1):c.1365G>A (p.A455=) - TTC7A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1447G>A r.(?) p.(Gly483Arg) Unknown - VUS g.47249055G>A - TTC7A(NM_020458.4):c.1447G>A (p.G483R) - TTC7A_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449G>A r.(?) p.(Gly483=) Unknown - likely benign g.47249057G>A g.47021918G>A TTC7A(NM_001288951.1):c.1449G>A (p.G483=), TTC7A(NM_020458.4):c.1449G>A (p.G483=) - TTC7A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1449G>A r.(?) p.(Gly483=) Unknown - likely benign g.47249057G>A - TTC7A(NM_001288951.1):c.1449G>A (p.G483=), TTC7A(NM_020458.4):c.1449G>A (p.G483=) - TTC7A_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1507G>A r.(?) p.(Asp503Asn) Unknown - VUS g.47249115G>A g.47021976G>A TTC7A(NM_001288951.1):c.1507G>A (p.D503N) - TTC7A_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1569-4A>G r.spl? p.? Unknown - likely benign g.47251422A>G g.47024283A>G TTC7A(NM_001288951.2):c.1569-4A>G - TTC7A_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1577A>G r.(?) p.(Gln526Arg) Unknown - VUS g.47251434A>G - TTC7A(NM_001288953.2):c.1475A>G (p.Q492R) - TTC7A_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1616C>T r.(?) p.(Ser539Leu) Unknown - likely pathogenic g.47251473C>T g.47024334C>T - - TTC7A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1641+3G>C r.spl? p.? Unknown - likely benign g.47251501G>C g.47024362G>C TTC7A(NM_001288951.1):c.1641+3G>C - TTC7A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1689G>A r.(?) p.(Lys563=) Unknown - likely benign g.47256410G>A g.47029271G>A TTC7A(NM_001288951.1):c.1689G>A (p.K563=) - TTC7A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1817A>G r.(?) p.(Lys606Arg) Unknown - VUS g.47273468A>G g.47046329A>G TTC7A(NM_001288951.1):c.1817A>G (p.K606R), TTC7A(NM_001288951.2):c.1817A>G (p.K606R) - TTC7A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1817A>G r.(?) p.(Lys606Arg) Unknown - VUS g.47273468A>G g.47046329A>G TTC7A(NM_001288951.1):c.1817A>G (p.K606R), TTC7A(NM_001288951.2):c.1817A>G (p.K606R) - TTC7A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1817A>G r.(?) p.(Lys606Arg) Unknown - likely benign g.47273468A>G g.47046329A>G TTC7A(NM_001288951.1):c.1817A>G (p.K606R), TTC7A(NM_001288951.2):c.1817A>G (p.K606R) - TTC7A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1901A>G r.(?) p.(Tyr634Cys) Unknown - VUS g.47273552A>G - - - TTC7A_000059 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
-?/. - c.1919+10C>T r.(=) p.(=) Unknown - likely benign g.47273580C>T - TTC7A(NM_001288951.1):c.1919+10C>T - TTC7A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1919+11G>C r.(=) p.(=) Unknown - likely benign g.47273581G>C g.47046442G>C TTC7A(NM_001288951.2):c.1919+11G>C - TTC7A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1919+840T>G r.(=) p.(=) Unknown - likely benign g.47274410T>G - TTC7A(NM_001288951.2):c.1925T>G (p.F642C) - TTC7A_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2014T>C r.(?) p.(Ser672Pro) Unknown - VUS g.47277182T>C g.47050043T>C TTC7A(NM_001288951.1):c.2086T>C (p.S696P), TTC7A(NM_001288951.2):c.2086T>C (p.S696P) - TTC7A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2014T>C r.(?) p.(Ser672Pro) Unknown - VUS g.47277182T>C g.47050043T>C TTC7A(NM_001288951.1):c.2086T>C (p.S696P), TTC7A(NM_001288951.2):c.2086T>C (p.S696P) - TTC7A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2014T>C r.(?) p.(Ser672Pro) Unknown - likely benign g.47277182T>C g.47050043T>C TTC7A(NM_001288951.1):c.2086T>C (p.S696P), TTC7A(NM_001288951.2):c.2086T>C (p.S696P) - TTC7A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2027G>A r.(?) p.(Arg676Gln) Unknown - likely benign g.47278894G>A g.47051755G>A TTC7A(NM_020458.2):c.2027G>A (p.(Arg676Gln)) - TTC7A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2085C>G r.(?) p.(Pro695=) Unknown - likely benign g.47278952C>G g.47051813C>G TTC7A(NM_001288951.1):c.2157C>G (p.P719=), TTC7A(NM_001288951.2):c.2157C>G (p.P719=) - TTC7A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2085C>G r.(?) p.(Pro695=) Unknown - likely benign g.47278952C>G - TTC7A(NM_001288951.1):c.2157C>G (p.P719=), TTC7A(NM_001288951.2):c.2157C>G (p.P719=) - TTC7A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2142G>T r.(?) p.(Trp714Cys) Unknown - VUS g.47279009G>T - TTC7A(NM_020458.4):c.2142G>T (p.(Trp714Cys)) - TTC7A_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2170C>A r.(?) p.(Gln724Lys) Unknown - benign g.47287925C>A g.47060786C>A TTC7A(NM_001288951.2):c.2242C>A (p.Q748K) - TTC7A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2170C>A r.(?) p.(Gln724Lys) Unknown - benign g.47287925C>A - TTC7A(NM_001288951.2):c.2242C>A (p.Q748K) - TTC7A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2196C>G r.(?) p.(Phe732Leu) Unknown - VUS g.47287951C>G g.47060812C>G - - TTC7A_000027 - - - - De novo - - - - - DNA SEQ-NG - - MR;ID RED - - F - - - - - - - 1 Karine Poirier
-?/. - c.2211G>A r.(?) p.(Ala737=) Unknown - likely benign g.47287966G>A g.47060827G>A TTC7A(NM_001288951.1):c.2283G>A (p.A761=), TTC7A(NM_001288951.2):c.2283G>A (p.A761=) - TTC7A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2211G>A r.(?) p.(Ala737=) Unknown - likely benign g.47287966G>A g.47060827G>A TTC7A(NM_001288951.1):c.2283G>A (p.A761=), TTC7A(NM_001288951.2):c.2283G>A (p.A761=) - TTC7A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2246A>G r.(?) p.(Tyr749Cys) Unknown - VUS g.47288001A>G - TTC7A(NM_001288951.1):c.2318A>G (p.Y773C) - TTC7A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2312C>T r.(?) p.(Ala771Val) Unknown - VUS g.47288067C>T g.47060928C>T TTC7A(NM_001288951.1):c.2384C>T (p.A795V), TTC7A(NM_020458.4):c.2312C>T (p.A771V) - TTC7A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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