Full data view for gene FHL2

Information The variants shown are described using the NM_001039492.2 transcript reference sequence.

42 entries on 1 page. Showing entries 1 - 42.
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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.-600G>T r.(?) p.(=) Unknown - VUS g.106015951C>A g.105399494C>A - - FHL2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-131A>G r.(?) p.(=) Unknown - likely benign g.106015482T>C g.105399025T>C - - FHL2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-109C>A r.(?) p.(=) Unknown - likely benign g.106015460G>T g.105399003G>T - - FHL2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-68G>A r.(?) p.(=) Unknown - benign g.106013147C>T g.105396690C>T FHL2(NM_201555.1):c.-189G>A - FHL2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.33C>T r.(?) p.(Asn11=) Unknown - benign g.106002941G>A g.105386484G>A FHL2(NM_201555.1):c.33C>T (p.N11=) - FHL2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.85G>A r.(?) p.(Val29Met) Unknown - benign g.106002889C>T g.105386432C>T FHL2(NM_201555.1):c.85G>A (p.V29M) - FHL2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.87G>C r.(?) p.(Val29=) Unknown - benign g.106002887C>G - FHL2(NM_001318895.2):c.87G>C (p.V29=) - FHL2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109G>T r.(?) p.(Ala37Ser) Unknown - benign g.106002865C>A g.105386408C>A FHL2(NM_201555.1):c.109G>T (p.A37S) - FHL2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.120C>T r.(?) p.(Cys40=) Unknown - benign g.106002854G>A g.105386397G>A FHL2(NM_201555.1):c.120C>T (p.C40=) - FHL2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 2 c.142G>A r.(?) p.(Gly48Ser) Parent #2 - likely pathogenic (dominant) g.106002832C>T g.105386375C>T - - FHL2_000033 - PubMed: Evilä 2016 - - Germline - - - 0 - DNA SEQ, SEQ-NG - MyoCap 180 myopathy gene panel MYOP P18 PubMed: Evilä 2016 - - - Spain - - 0 - - 1 Johan den Dunnen
-/. - c.156+8C>T r.(=) p.(=) Unknown - benign g.106002810G>A g.105386353G>A FHL2(NM_201555.1):c.156+8C>T - FHL2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156+21C>T r.(=) p.(=) Unknown - likely benign g.106002797G>A g.105386340G>A - - FHL2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.156+38C>T r.(=) p.(=) Unknown - likely benign g.106002780G>A g.105386323G>A - - FHL2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.174C>T r.(?) p.(Asp58=) Unknown - benign g.105990173G>A g.105373716G>A FHL2(NM_201555.1):c.174C>T (p.D58=) - FHL2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.192C>T r.(?) p.(Ala64=) Unknown - benign g.105990155G>A g.105373698G>A FHL2(NM_201555.1):c.192C>T (p.A64=) - FHL2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 4 c.319_320dup r.(?) p.(Ile108Profs*104) Both (homozygous) - likely benign g.105990027_105990028dup g.105373570_105373571dup - - FHL2_000001 variant not assocciated with RD phenotype; description in paper c.321_322insAC/p.(Thr107fs) does not make sense PubMed: Sergouniotis 2014 - - Germline ? - - 0 - DNA SEQ - - RD - PubMed: Sergouniotis 2014 4-generation family, 2 affected brothers (CD3/CD4), unaffected carrier parents and sibling M yes ? (unknown) European - 0 - - 1 Marianne Vos (LOVD-team)
-/. - c.321C>T r.(?) p.(Thr107=) Unknown - benign g.105990026G>A g.105373569G>A FHL2(NM_201555.1):c.321C>T (p.T107=) - FHL2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.331+16T>C r.(=) p.(=) Unknown - benign g.105990000A>G g.105373543A>G FHL2(NM_201555.1):c.331+16T>C - FHL2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.331+20T>A r.(=) p.(=) Unknown - benign g.105989996A>T g.105373539A>T FHL2(NM_201555.1):c.331+20T>A - FHL2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.337C>T r.(?) p.(Arg113Cys) Unknown - VUS g.105984191G>A g.105367734G>A - - FHL2_000002 - PubMed: Neubauer 2017, Journal: Neubauer 2017 - rs140148322 Germline ? - - 0 - DNA SEQ-NG-I - - SIDS - PubMed: Neubauer 2017 Journal: Neubauer 2017 - M ? Switzerland European 00y04m 0 - - 1 Cordula Haas
?/. - c.337C>T r.(?) p.(Arg113Cys) Unknown - VUS g.105984191G>A g.105367734G>A FHL2(NM_201555.1):c.337C>T (p.R113C) - FHL2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.338G>A r.(?) p.(Arg113His) Unknown - VUS g.105984190C>T g.105367733C>T FHL2(NM_201555.1):c.338G>A (p.R113H) - FHL2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.374C>A r.(?) p.(Thr125Asn) Unknown - VUS g.105984154G>T g.105367697G>T FHL2(NM_201555.1):c.374C>A (p.T125N) - FHL2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.391C>T r.(?) p.(Arg131Cys) Unknown - VUS g.105984137G>A g.105367680G>A - - FHL2_000035 VUS favour pathogenic PubMed: Walsh 2017 - - Germline - 1/121 cases - 0 - DNA SEQ, SEQ-NG - cardiomyopathy gene panel CM - PubMed: Walsh 2017 - - - United States - - 0 - - 1 Johan den Dunnen
?/. - c.392G>A r.(?) p.(Arg131His) Unknown - VUS g.105984136C>T - FHL2(NM_201555.1):c.392G>A (p.R131H) - FHL2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.462T>G r.(?) p.(Tyr154Ter) Unknown - VUS g.105984066A>C g.105367609A>C - - FHL2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469C>A r.(?) p.(Gln157Lys) Unknown - VUS g.105984059G>T g.105367602G>T FHL2(NM_201555.1):c.469C>A (p.Q157K) - FHL2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.487_488del r.(?) p.(Val163SerfsTer42) Unknown - VUS g.105984040_105984041del g.105367583_105367584del FHL2(NM_201555.1):c.487_488delGT (p.V163Sfs*42) - FHL2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.530G>A r.(?) p.(Arg177Gln) Unknown - benign g.105979900C>T g.105363443C>T FHL2(NM_201555.1):c.530G>A (p.R177Q) - FHL2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.559G>T r.(?) p.(Val187Leu) Unknown - VUS g.105979871C>A g.105363414C>A FHL2(NM_201555.1):c.559G>T (p.V187L) - C2orf49_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.576G>T r.(?) p.(Arg192Ser) Unknown - VUS g.105979854C>A g.105363397C>A FHL2(NM_201555.1):c.576G>T (p.R192S) - C2orf49_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.678C>T r.(?) p.(Asn226=) Unknown - benign g.105979752G>A g.105363295G>A FHL2(NM_201555.1):c.678C>T (p.N226=) - FHL2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.688+12G>T r.(=) p.(=) Unknown - benign g.105979730C>A g.105363273C>A FHL2(NM_201555.1):c.688+12G>T - FHL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.688+12G>T r.(=) p.(=) Unknown - benign g.105979730C>A g.105363273C>A FHL2(NM_201555.1):c.688+12G>T - FHL2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.689-12C>G r.(=) p.(=) Unknown - benign g.105977903G>C g.105361446G>C FHL2(NM_201555.1):c.689-12C>G - FHL2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.689-10C>G r.(=) p.(=) Unknown - benign g.105977901G>C g.105361444G>C FHL2(NM_201555.1):c.689-10C>G - FHL2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.698G>A r.(?) p.(Gly233Asp) Unknown - VUS g.105977882C>T g.105361425C>T FHL2(NM_201555.1):c.698G>A (p.G233D) - C2orf49_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699C>A r.(?) p.(Gly233=) Unknown - benign g.105977881G>T g.105361424G>T FHL2(NM_201555.1):c.699C>A (p.G233=) - C2orf49_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.804C>T r.(?) p.(Asp268=) Unknown - benign g.105977776G>A g.105361319G>A FHL2(NM_201555.1):c.804C>T (p.D268=) - FHL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.804C>T r.(?) p.(Asp268=) Unknown - benign g.105977776G>A g.105361319G>A FHL2(NM_201555.1):c.804C>T (p.D268=) - FHL2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.815G>A r.(?) p.(Cys272Tyr) Unknown - VUS g.105977765C>T g.105361308C>T - - FHL2_000003 - PubMed: Sahlin 2019, Journal: Sahlin 2019 - - Germline ? - - - - DNA SEQ-NG - HaloPlex gene panel (70 heart genes) ? 45 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) F - Sweden - 0 - - - 1 Ellika Sahlin
-/. - c.819C>T r.(?) p.(Pro273=) Unknown - benign g.105977761G>A g.105361304G>A FHL2(NM_201555.1):c.819C>T (p.P273=) - FHL2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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