Full data view for gene FAM123B

NOTE: gene symbol was recently changed from FAM123B to AMER1.
Information The variants shown are described using the NM_152424.3 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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.4G>A r.(?) p.(Glu2Lys) Unknown - VUS g.63413163C>T g.64193283C>T AMER1(NM_152424.4):c.4G>A (p.E2K) - FAM123B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74C>T r.(?) p.(Ala25Val) Unknown - likely benign g.63413093G>A - AMER1(NM_152424.4):c.74C>T (p.A25V) - FAM123B_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85G>A r.(?) p.(Ala29Thr) Unknown - likely benign g.63413082C>T g.64193202C>T AMER1(NM_152424.3):c.85G>A (p.(Ala29Thr)), AMER1(NM_152424.4):c.85G>A (p.A29T) - FAM123B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.85G>A r.(?) p.(Ala29Thr) Unknown - benign g.63413082C>T g.64193202C>T AMER1(NM_152424.3):c.85G>A (p.(Ala29Thr)), AMER1(NM_152424.4):c.85G>A (p.A29T) - FAM123B_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185G>T r.(?) p.(Gly62Val) Unknown - VUS g.63412982C>A g.64193102C>A AMER1(NM_152424.3):c.185G>T (p.(Gly62Val)) - FAM123B_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.307G>A r.(?) p.(Ala103Thr) Unknown - likely benign g.63412860C>T g.64192980C>T AMER1(NM_152424.4):c.307G>A (p.A103T) - FAM123B_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.311A>G r.(?) p.(His104Arg) Unknown - likely benign g.63412856T>C g.64192976T>C AMER1(NM_152424.3):c.311A>G (p.(His104Arg)), AMER1(NM_152424.4):c.311A>G (p.H104R) - FAM123B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.311A>G r.(?) p.(His104Arg) Unknown - VUS g.63412856T>C g.64192976T>C AMER1(NM_152424.3):c.311A>G (p.(His104Arg)), AMER1(NM_152424.4):c.311A>G (p.H104R) - FAM123B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.380T>C r.(?) p.(Phe127Ser) Unknown - VUS g.63412787A>G g.64192907A>G AMER1(NM_152424.3):c.380T>C (p.(Phe127Ser)) - FAM123B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.401A>C r.(?) p.(His134Pro) Unknown - likely benign g.63412766T>G g.64192886T>G AMER1(NM_152424.3):c.401A>C (p.(His134Pro)), AMER1(NM_152424.4):c.401A>C (p.H134P) - FAM123B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.401A>C r.(?) p.(His134Pro) Unknown - likely benign g.63412766T>G g.64192886T>G AMER1(NM_152424.3):c.401A>C (p.(His134Pro)), AMER1(NM_152424.4):c.401A>C (p.H134P) - FAM123B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.401A>C r.(?) p.(His134Pro) Unknown - likely benign g.63412766T>G g.64192886T>G AMER1(NM_152424.3):c.401A>C (p.(His134Pro)), AMER1(NM_152424.4):c.401A>C (p.H134P) - FAM123B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477T>G r.(?) p.(Phe159Leu) Unknown - benign g.63412690A>C g.64192810A>C AMER1(NM_152424.3):c.477T>G (p.(Phe159Leu)) - FAM123B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.533G>A r.(?) p.(Arg178His) Unknown - VUS g.63412634C>T g.64192754C>T AMER1(NM_152424.4):c.533G>A (p.R178H) - FAM123B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. 2 c.555_556del r.(?) p.(Ala187*) Unknown - pathogenic g.63412611_63412612del g.64192731_64192732del 555_556delTG - FAM123B_000005 - - - - Germline yes - - 0 - DNA SEQ blood - OSCS - - - F no Italy caucasian - 0 - - 1 Eva Trevisson
-?/. - c.614A>G r.(?) p.(His205Arg) Unknown - likely benign g.63412553T>C - AMER1(NM_152424.4):c.614A>G (p.H205R) - FAM123B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.664C>T r.(?) p.(Gln222Ter) Unknown - likely pathogenic g.63412503G>A g.64192623G>A - - FAM123B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.670C>G r.(?) p.(Pro224Ala) Unknown - likely benign g.63412497G>C g.64192617G>C AMER1(NM_152424.4):c.670C>G (p.P224A) - FAM123B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.742C>A r.(?) p.(Pro248Thr) Unknown - likely benign g.63412425G>T - AMER1(NM_152424.4):c.742C>A (p.P248T) - FAM123B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.790G>A r.(?) p.(Ala264Thr) Unknown - likely benign g.63412377C>T g.64192497C>T AMER1(NM_152424.3):c.790G>A (p.(Ala264Thr)), AMER1(NM_152424.4):c.790G>A (p.A264T) - FAM123B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.790G>A r.(?) p.(Ala264Thr) Unknown - likely benign g.63412377C>T g.64192497C>T AMER1(NM_152424.3):c.790G>A (p.(Ala264Thr)), AMER1(NM_152424.4):c.790G>A (p.A264T) - FAM123B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.790G>A r.(?) p.(Ala264Thr) Unknown - likely benign g.63412377C>T - AMER1(NM_152424.3):c.790G>A (p.(Ala264Thr)), AMER1(NM_152424.4):c.790G>A (p.A264T) - FAM123B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.871G>T r.(?) p.(Glu291*) Unknown - pathogenic g.63412296C>A - AMER1(NM_152424.4):c.871G>T (p.E291*) - FAM123B_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.876G>C r.(?) p.(Lys292Asn) Unknown - likely benign g.63412291C>G g.64192411C>G AMER1(NM_152424.3):c.876G>C (p.(Lys292Asn)) - FAM123B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.898C>A r.(?) p.(Pro300Thr) Unknown - VUS g.63412269G>T g.64192389G>T AMER1(NM_152424.4):c.898C>A (p.P300T) - FAM123B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.918G>A r.(?) p.(Gly306=) Unknown - likely benign g.63412249C>T g.64192369C>T AMER1(NM_152424.4):c.918G>A (p.G306=) - FAM123B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1057C>T r.(?) p.(Arg353Ter) Unknown - pathogenic g.63412110G>A g.64192230G>A - - FAM123B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1072C>T r.(?) p.(Arg358Ter) Unknown - pathogenic g.63412095G>A g.64192215G>A - - FAM123B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1137C>A r.(?) p.(Asp379Glu) Unknown - likely benign g.63412030G>T g.64192150G>T AMER1(NM_152424.3):c.1137C>A (p.(Asp379Glu)) - FAM123B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.1147G>T r.(?) p.(Glu383Ter) Unknown - likely pathogenic g.63412020C>A - AMER1(NM_152424.4):c.1147G>T (p.E383*) - FAM123B_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1153G>C r.(?) p.(Glu385Gln) Unknown - VUS g.63412014C>G g.64192134C>G AMER1(NM_152424.3):c.1153G>C (p.(Glu385Gln)), AMER1(NM_152424.4):c.1153G>C (p.E385Q) - FAM123B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1153G>C r.(?) p.(Glu385Gln) Unknown - likely benign g.63412014C>G - AMER1(NM_152424.3):c.1153G>C (p.(Glu385Gln)), AMER1(NM_152424.4):c.1153G>C (p.E385Q) - FAM123B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1253G>A r.(?) p.(Arg418Gln) Unknown - VUS g.63411914C>T - AMER1(NM_152424.4):c.1253G>A (p.R418Q) - FAM123B_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1283C>T r.(?) p.(Thr428Ile) Unknown - likely benign g.63411884G>A - AMER1(NM_152424.4):c.1283C>T (p.T428I) - FAM123B_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1472G>A r.(?) p.(Arg491His) Unknown - likely benign g.63411695C>T - AMER1(NM_152424.3):c.1472G>A (p.(Arg491His)) - FAM123B_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1645C>T r.(?) p.(Arg549Trp) Unknown - VUS g.63411522G>A - AMER1(NM_152424.4):c.1645C>T (p.R549W) - FAM123B_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1679G>A r.(?) p.(Arg560Gln) Unknown - VUS g.63411488C>T g.64191608C>T AMER1(NM_152424.4):c.1679G>A (p.R560Q) - FAM123B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1796A>G r.(?) p.(Tyr599Cys) Unknown - benign g.63411371T>C g.64191491T>C AMER1(NM_152424.3):c.1796A>G (p.(Tyr599Cys)), AMER1(NM_152424.4):c.1796A>G (p.Y599C) - FAM123B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1796A>G r.(?) p.(Tyr599Cys) Unknown - likely benign g.63411371T>C g.64191491T>C AMER1(NM_152424.3):c.1796A>G (p.(Tyr599Cys)), AMER1(NM_152424.4):c.1796A>G (p.Y599C) - FAM123B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1796A>G r.(?) p.(Tyr599Cys) Unknown - likely benign g.63411371T>C g.64191491T>C AMER1(NM_152424.3):c.1796A>G (p.(Tyr599Cys)), AMER1(NM_152424.4):c.1796A>G (p.Y599C) - FAM123B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1802G>A r.(?) p.(Arg601Gln) Unknown - likely benign g.63411365C>T g.64191485C>T AMER1(NM_152424.3):c.1802G>A (p.(Arg601Gln)), AMER1(NM_152424.4):c.1802G>A (p.R601Q) - FAM123B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1802G>A r.(?) p.(Arg601Gln) Unknown - likely benign g.63411365C>T g.64191485C>T AMER1(NM_152424.3):c.1802G>A (p.(Arg601Gln)), AMER1(NM_152424.4):c.1802G>A (p.R601Q) - FAM123B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1802G>A r.(?) p.(Arg601Gln) Unknown - likely benign g.63411365C>T g.64191485C>T AMER1(NM_152424.3):c.1802G>A (p.(Arg601Gln)), AMER1(NM_152424.4):c.1802G>A (p.R601Q) - FAM123B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1833G>A r.(?) p.(Arg611=) Unknown - likely benign g.63411334C>T - AMER1(NM_152424.4):c.1833G>A (p.R611=) - FAM123B_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1937G>A r.(?) p.(Arg646Gln) Unknown - likely benign g.63411230C>T g.64191350C>T AMER1(NM_152424.3):c.1937G>A (p.(Arg646Gln)) - FAM123B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2074G>A r.(?) p.(Glu692Lys) Unknown - likely benign g.63411093C>T g.64191213C>T AMER1(NM_152424.4):c.2074G>A (p.E692K) - FAM123B_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2074G>C r.(?) p.(Glu692Gln) Unknown - likely benign g.63411093C>G g.64191213C>G AMER1(NM_152424.3):c.2074G>C (p.(Glu692Gln)) - FAM123B_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2133G>A r.(?) p.(Lys711=) Unknown - likely benign g.63411034C>T - AMER1(NM_152424.4):c.2133G>A (p.K711=) - FAM123B_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2175T>G r.(?) p.(Asp725Glu) Unknown - VUS g.63410992A>C g.64191112A>C AMER1(NM_152424.3):c.2175T>G (p.(Asp725Glu)) - FAM123B_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2175T>G r.(?) p.(Asp725Glu) Maternal (confirmed) - VUS g.63410992A>C - - - FAM123B_000020 - Doucette 2021, submitted benign ClinVar-745835 rs369699027 Germline yes 1.3x10-4 - 0 - DNA SEQ-NG - - maculopathy M68 II-1 Doucette 2021, submitted Only Affected brother of a 4 member family. 1 unaffected sister and unaffected parents. Patient has an occult macular dystrophy though no RP1L1 variants were noted. M - Canada - - - Yes - 1 Lance P Doucette
?/. - c.2275G>T r.(?) p.(Val759Phe) Unknown - VUS g.63410892C>A g.64191012C>A AMER1(NM_152424.3):c.2275G>T (p.(Val759Phe)) - FAM123B_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2387T>A r.(?) p.(Phe796Tyr) Unknown - VUS g.63410780A>T g.64190900A>T AMER1(NM_152424.4):c.2387T>A (p.F796Y) - FAM123B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2458G>A r.(?) p.(Gly820Ser) Unknown - likely benign g.63410709C>T g.64190829C>T AMER1(NM_152424.3):c.2458G>A (p.(Gly820Ser)) - FAM123B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2503G>C r.(?) p.(Ala835Pro) Unknown - VUS g.63410664C>G - AMER1(NM_152424.4):c.2503G>C (p.A835P) - FAM123B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2651C>T r.(?) p.(Pro884Leu) Unknown - likely benign g.63410516G>A g.64190636G>A AMER1(NM_152424.3):c.2651C>T (p.(Pro884Leu)), AMER1(NM_152424.4):c.2651C>T (p.P884L) - FAM123B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2651C>T r.(?) p.(Pro884Leu) Unknown - likely benign g.63410516G>A g.64190636G>A AMER1(NM_152424.3):c.2651C>T (p.(Pro884Leu)), AMER1(NM_152424.4):c.2651C>T (p.P884L) - FAM123B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2651C>T r.(?) p.(Pro884Leu) Unknown - likely benign g.63410516G>A - AMER1(NM_152424.3):c.2651C>T (p.(Pro884Leu)), AMER1(NM_152424.4):c.2651C>T (p.P884L) - FAM123B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2651C>T r.(?) p.(Pro884Leu) Unknown - likely benign g.63410516G>A - AMER1(NM_152424.3):c.2651C>T (p.(Pro884Leu)), AMER1(NM_152424.4):c.2651C>T (p.P884L) - FAM123B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2660T>C r.(?) p.(Met887Thr) Unknown - likely benign g.63410507A>G g.64190627A>G AMER1(NM_152424.3):c.2660T>C (p.(Met887Thr)) - FAM123B_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2825G>A r.(?) p.(Arg942Gln) Unknown - likely benign g.63410342C>T g.64190462C>T AMER1(NM_152424.3):c.2825G>A (p.(Arg942Gln)) - FAM123B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2970G>T r.(?) p.(Arg990Ser) Unknown - benign g.63410197C>A g.64190317C>A AMER1(NM_152424.4):c.2970G>T (p.R990S) - FAM123B_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3007A>G r.(?) p.(Ile1003Val) Unknown - VUS g.63410160T>C g.64190280T>C AMER1(NM_152424.4):c.3007A>G (p.I1003V) - FAM123B_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3092G>A r.(?) p.(Gly1031Asp) Unknown - likely benign g.63410075C>T g.64190195C>T AMER1(NM_152424.4):c.3092G>A (p.G1031D) - FAM123B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3092G>A r.(?) p.(Gly1031Asp) Unknown - likely benign g.63410075C>T g.64190195C>T AMER1(NM_152424.4):c.3092G>A (p.G1031D) - FAM123B_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3173C>T r.(?) p.(Pro1058Leu) Unknown - VUS g.63409994G>A g.64190114G>A AMER1(NM_152424.3):c.3173C>T (p.(Pro1058Leu)) - FAM123B_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3273G>A r.(?) p.(Arg1091=) Unknown - likely benign g.63409894C>T g.64190014C>T AMER1(NM_152424.4):c.3273G>A (p.R1091=) - FAM123B_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3408G>A r.(?) p.(Ter1136=) Unknown - likely benign g.63409759C>T g.64189879C>T AMER1(NM_152424.4):c.3408G>A (p.*1136=) - FAM123B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*413_*414del r.(?) p.(=) Unknown - likely benign g.63409358_63409359del g.64189478_64189479del *413_*414delCA - FAM123B_000006 - PubMed: Mavros 2018 - - De novo - 4/14 reads - 0 - DNA SEQ, SEQ-NG - trio WES ID PAt1 PubMed: Mavros 2018 - M no United States - - 0 - - 1 Johan den Dunnen
-?/. 3 c.*3449_*3450del r.(=) p.(=) Unknown - likely benign g.63406327_63406328del g.64186447_64186448del - - FAM123B_000004 - - - - Germline - - - 0 - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
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