Full data view for gene FAM111A

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

31 entries on 1 page. Showing entries 1 - 31.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. - c.81G>A r.-75_81del p.0 Both (homozygous) ACMG likely pathogenic (recessive) g.58916426G>A g.59148953G>A - - FAM111A_000019 fibroblast RNA analyzed; exon skipping; almost complete loss of FAM111A protein in patient-derived fibroblasts PubMed: Bonde 2025 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ-NG blood WES KCS2 FamPat1 PubMed: Bonde 2025 - F yes - - - - - - 2 Frederike Leonie Harms
+/. - c.81G>A r.-75_81del p.0 Both (homozygous) - likely pathogenic (recessive) g.59148953G>A g.59148953G>A - - FAM111A_000019 fibroblast RNA analyzed; exon skipping; almost complete loss of FAM111A protein in patient-derived fibroblasts PubMed: Bonde 2025 - - Germline yes - - - - DNA SEQ-NG blood WES KCS2 FamPat2 PubMed: Bonde 2025 - M yes - - - - - - 1 Frederike Leonie Harms
-?/. - c.228del r.(?) p.(Thr77Glnfs*6) Unknown - likely benign g.58919369del - FAM111A(NM_022074.3):c.228delG (p.(Thr77fs)) - FAM111A_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.239T>C r.(?) p.(Val80Ala) Unknown - likely benign g.58919380T>C g.59151907T>C FAM111A(NM_001142519.1):c.239T>C (p.(Val80Ala)) - FAM111A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.281_290del r.(?) p.(Leu94Hisfs*22) Maternal (confirmed) - VUS g.58919422_58919431del g.59151949_59151958del 281_290del10 - FAM111A_000014 - PubMed: Rots 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Rots 2023 2-generation family, unaffected non-carrier parents M - - - - - - - 1 Johan den Dunnen
-?/. - c.310T>A r.(?) p.(Leu104Ile) Unknown - likely benign g.58919451T>A - FAM111A(NM_001142519.1):c.310T>A (p.(Leu104Ile)) - FAM111A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364C>T r.(?) p.(Gln122*) Unknown - VUS g.58919505C>T - FAM111A(NM_001312909.1):c.364C>T (p.Q122*) - FAM111A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.364C>T r.(?) p.(Gln122*) Unknown - likely benign g.58919505C>T - FAM111A(NM_001312909.1):c.364C>T (p.Q122*) - FAM111A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.486_489del r.(?) p.(Lys163Argfs*87) Unknown - VUS g.58919627_58919630del - FAM111A(NM_001142519.1):c.483_486del (p.(Lys163Argfs*87)) - FAM111A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.580T>A r.(?) p.(Cys194Ser) Unknown - likely benign g.58919721T>A - FAM111A(NM_001142519.1):c.580T>A (p.(Cys194Ser)) - FAM111A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.738T>C r.(?) p.(Asn246=) Unknown - likely benign g.58919879T>C g.59152406T>C FAM111A(NM_022074.3):c.738T>C (p.N246=) - FAM111A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.782_791dup r.(?) p.(Phe264LeufsTer7) Unknown - benign g.58919923_58919932dup g.59152450_59152459dup FAM111A(NM_001142519.1):c.782_791dup (p.(Phe264Leufs*7)), FAM111A(NM_001142520.2):c.782_791dupGCAGATACTT (p.F264Lfs*7), FAM111A(NM_022074.4):c.782_... - FAM111A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.782_791dup r.(?) p.(Phe264LeufsTer7) Unknown - benign g.58919923_58919932dup - FAM111A(NM_001142519.1):c.782_791dup (p.(Phe264Leufs*7)), FAM111A(NM_001142520.2):c.782_791dupGCAGATACTT (p.F264Lfs*7), FAM111A(NM_022074.4):c.782_... - FAM111A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.782_791dup r.(?) p.(Phe264LeufsTer7) Unknown - likely benign g.58919923_58919932dup - FAM111A(NM_001142519.1):c.782_791dup (p.(Phe264Leufs*7)), FAM111A(NM_001142520.2):c.782_791dupGCAGATACTT (p.F264Lfs*7), FAM111A(NM_022074.4):c.782_... - FAM111A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079T>A r.(?) p.(Leu360*) Unknown - VUS g.58920220T>A - FAM111A(NM_001312909.2):c.1079T>A (p.(Leu360*)) - FAM111A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108G>A r.(?) p.(Ala370Thr) Unknown - likely benign g.58920249G>A - FAM111A(NM_001312909.2):c.1108G>A (p.(Ala370Thr)) - FAM111A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1111A>T r.(?) p.(Thr371Ser) Unknown - VUS g.58920252A>T - FAM111A(NM_001142519.1):c.1111A>T (p.(Thr371Ser)), FAM111A(NM_022074.4):c.1111A>T (p.T371S) - FAM111A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1111A>T r.(?) p.(Thr371Ser) Unknown - VUS g.58920252A>T - FAM111A(NM_001142519.1):c.1111A>T (p.(Thr371Ser)), FAM111A(NM_022074.4):c.1111A>T (p.T371S) - FAM111A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1119T>G r.(?) p.(Phe373Leu) Unknown - VUS g.58920260T>G - FAM111A(NM_001312909.2):c.1119T>G (p.(Phe373Leu)) - FAM111A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1153C>T r.(?) p.(His385Tyr) Unknown - likely benign g.58920294C>T - FAM111A(NM_001312909.2):c.1153C>T (p.(His385Tyr)) - FAM111A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1163_1166del r.(?) p.(Asp388AlafsTer7) Unknown - VUS g.58920304_58920307del g.59152831_59152834del FAM111A(NM_001142519.1):c.1163_1166del (p.(Asp388Alafs*7)) - FAM111A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1214G>A r.(?) p.(Gly405Asp) Unknown - likely benign g.58920355G>A - FAM111A(NM_001312909.2):c.1214G>A (p.(Gly405Asp)) - FAM111A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1286C>T r.(?) p.(Pro429Leu) Unknown - likely benign g.58920427C>T - - - FAM111A_000023 - - - rs771954122 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1351C>G r.(?) p.(Gln451Glu) Unknown - likely benign g.58920492C>G - FAM111A(NM_001312909.2):c.1351C>G (p.(Gln451Glu)) - FAM111A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1588A>G r.(?) p.(Ile530Val) Unknown - likely benign g.58920729A>G g.59153256A>G FAM111A(NM_022074.3):c.1588A>G (p.I530V) - FAM111A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1625G>A r.(?) p.(Gly542Asp) Unknown - likely benign g.58920766G>A - FAM111A(NM_001312909.2):c.1625G>A (p.(Gly542Asp)) - FAM111A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.1706G>A r.? p.(Arg569His) Unknown ACMG likely pathogenic g.58920847G>A g.59153374G>A - - FAM111A_000026 - - ClinVar-56810 rs587777011 Germline - - - - - DNA SEQ-NG-I peripheral blood WES ? - - - F - - (not applicable) white - - - - 1 Marketa Wayhelova
?/. - c.1714_1716del r.(?) p.(Ile572del) Unknown - VUS g.58920855_58920857del - FAM111A(NM_022074.4):c.1714_1716delATT (p.I572del) - FAM111A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1738T>C r.(?) p.(Ser580Pro) Unknown - likely benign g.58920879T>C g.59153406T>C FAM111A(NM_001142519.1):c.1738T>C (p.(Ser580Pro)) - FAM111A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1741A>G r.(?) p.(Ile581Val) Unknown - VUS g.58920882A>G - FAM111A(NM_001312909.2):c.1741A>G (p.(Ile581Val)) - FAM111A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1828del r.(?) p.(Asp610ThrfsTer10) Unknown - VUS g.58920969del - - - FAM111A_000028 - - - rs778664987 Unknown - - - - - - - - - - - - - - - - - - - - - - -
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