dbSNP

GCCTGTGGATAATGCACGAGAAGCC[A/G]TGCAGCAGGCAGATGACTGGCTGGG

Chromosome:

3:58078779

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant

Allele Origin:

G(germline)/A(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58078779A>G, NC_000003.11:g.58064506A>G, NC_000003.12:g.58078779A>G, NG_012801.1:g.75380A>G, NM_001164317.1:c.604A>G, NM_001164318.1:c.604A>G, NM_001164319.1:c.604A>G, NM_001457.2:c.604A>G, NM_001457.3:c.604A>G, NP_001157789.1:p.Met202Val, NP_001157790.1:p.Met202Val, NP_001157791.1:p.Met202Val, NP_001448.2:p.Met202Val, XP_005265034.1:p.Met202Val, XP_005265035.1:p.Met202Val, XP_005265036.1:p.Met33Val, XP_005265037.1:p.Met33Val, XP_005265038.1:p.Met202Val, XP_005265039.1:p.Met202Val, XR_001740065.1:n.749A>G, XR_940396.2:n.749A>G

TGGCAAGACGGCAAAGCCCTGGGAG[C/T]CCTGGTAGACAGCTGTGCTCCAGGT

Chromosome:

3:58077271

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant

Allele Origin:

T(germline)/C(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58077271C>T, NC_000003.11:g.58062998C>T, NC_000003.12:g.58077271C>T, NG_012801.1:g.73872C>T, NM_001164317.1:c.518C>T, NM_001164318.1:c.518C>T, NM_001164319.1:c.518C>T, NM_001457.2:c.518C>T, NM_001457.3:c.518C>T, NP_001157789.1:p.Ala173Val, NP_001157790.1:p.Ala173Val, NP_001157791.1:p.Ala173Val, NP_001448.2:p.Ala173Val, XP_005265034.1:p.Ala173Val, XP_005265035.1:p.Ala173Val, XP_005265038.1:p.Ala173Val, XP_005265039.1:p.Ala173Val, XR_001740065.1:n.663C>T, XR_940396.2:n.663C>T

ATATGTCGGCCCACGTCACCAGCCC[-/C]TCTGGCCGTGTGACTGAGGCAGAGA

Chromosome:

3:58153415

Gene:

FLNB (GeneView)

Functional Consequence:

frameshift variant,nc transcript variant

Allele Origin:

C(germline)/(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58153415delC, NC_000003.11:g.58139142delC, NC_000003.12:g.58153415delC, NG_012801.1:g.150016delC, NM_001164317.1:c.6501delC, NM_001164318.1:c.6375delC, NM_001164319.1:c.6336delC, NM_001457.2:c.6408delC, NM_001457.3:c.6408delC, NP_001157789.1:p.Ser2168Leufs, NP_001157790.1:p.Ser2126Leufs, NP_001157791.1:p.Ser2113Leufs, NP_001448.2:p.Ser2137Leufs, XP_005265034.1:p.Ser2157Leufs, XP_005265035.1:p.Ser2144Leufs, XP_005265036.1:p.Ser1957Leufs, XP_005265037.1:p.Ser1944Leufs, XR_001740065.1:n.6716delC, XR_940396.2:n.6793delC

CATCCCACTTTCTCCTTATCGCATC[C/G/T]GAGCCACACAGACGGGTGATGCCAG

Chromosome:

3:58136126

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant,stop gained

Allele Origin:

T(germline)/C(germline)

Clinical significance:

Pathogenic

Validated:

by cluster,by frequency

HGVS:

CM000665.2:g.58136126C>G, CM000665.2:g.58136126C>T, NC_000003.11:g.58121853C>G, NC_000003.11:g.58121853C>T, NC_000003.12:g.58136126C>G, NC_000003.12:g.58136126C>T, NG_012801.1:g.132727C>G, NG_012801.1:g.132727C>T, NM_001164317.1:c.4912C>G, NM_001164317.1:c.4912C>T, NM_001164318.1:c.4819C>G, NM_001164318.1:c.4819C>T, NM_001164319.1:c.4819C>G, NM_001164319.1:c.4819C>T, NM_001457.2:c.4819C>G, NM_001457.2:c.4819C>T, NM_001457.3:c.4819C>G, NM_001457.3:c.4819C>T, NP_001157789.1:p.Arg1638Gly, NP_001157789.1:p.Arg1638Ter, NP_001157790.1:p.Arg1607Gly, NP_001157790.1:p.Arg1607Ter, NP_001157791.1:p.Arg1607Gly, NP_001157791.1:p.Arg1607Ter, NP_001448.2:p.Arg1607Gly, NP_001448.2:p.Arg1607Ter, XP_005265034.1:p.Arg1638Gly, XP_005265034.1:p.Arg1638Ter, XP_005265035.1:p.Arg1638Gly, XP_005265035.1:p.Arg1638Ter, XP_005265036.1:p.Arg1438Gly, XP_005265036.1:p.Arg1438Ter, XP_005265037.1:p.Arg1438Gly, XP_005265037.1:p.Arg1438Ter, XP_005265038.1:p.Arg1638Gly, XP_005265038.1:p.Arg1638Ter, XP_005265039.1:p.Arg1638Gly, XP_005265039.1:p.Arg1638Ter, XR_001740065.1:n.5057C>G, XR_001740065.1:n.5057C>T, XR_940396.2:n.5057C>G, XR_940396.2:n.5057C>T

CAAATATGTGCCTCCTGCTGCTGGG[C/T]GATACACTATCAAAGTTCTCTTTGC

Chromosome:

3:58110138

Gene:

FLNB (GeneView)

Functional Consequence:

nc transcript variant,stop gained

Allele Origin:

T(germline)/C(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58110138C>T, NC_000003.11:g.58095865C>T, NC_000003.12:g.58110138C>T, NG_012801.1:g.106739C>T, NM_001164317.1:c.2452C>T, NM_001164318.1:c.2452C>T, NM_001164319.1:c.2452C>T, NM_001457.2:c.2452C>T, NM_001457.3:c.2452C>T, NP_001157789.1:p.Arg818Ter, NP_001157790.1:p.Arg818Ter, NP_001157791.1:p.Arg818Ter, NP_001448.2:p.Arg818Ter, XP_005265034.1:p.Arg818Ter, XP_005265035.1:p.Arg818Ter, XP_005265036.1:p.Arg649Ter, XP_005265037.1:p.Arg649Ter, XP_005265038.1:p.Arg818Ter, XP_005265039.1:p.Arg818Ter, XR_001740065.1:n.2597C>T, XR_940396.2:n.2597C>T

TGTCACCTACATCCCCGACAAGACT[A/G]GGCGCTATATGATTGGAGTCACCTA

Chromosome:

3:58136063

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant

Allele Origin:

G(germline)/A(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58136063G>A, NC_000003.11:g.58121790G>A, NC_000003.12:g.58136063G>A, NG_012801.1:g.132664G>A, NM_001164317.1:c.4849G>A, NM_001164318.1:c.4756G>A, NM_001164319.1:c.4756G>A, NM_001457.2:c.4756G>A, NM_001457.3:c.4756G>A, NP_001157789.1:p.Gly1617Arg, NP_001157790.1:p.Gly1586Arg, NP_001157791.1:p.Gly1586Arg, NP_001448.2:p.Gly1586Arg, XP_005265034.1:p.Gly1617Arg, XP_005265035.1:p.Gly1617Arg, XP_005265036.1:p.Gly1417Arg, XP_005265037.1:p.Gly1417Arg, XP_005265038.1:p.Gly1617Arg, XP_005265039.1:p.Gly1617Arg, XR_001740065.1:n.4994G>A, XR_940396.2:n.4994G>A

ATCCCCTACTTGCCCATCACCAACT[G/T]TAACCAGAACTGGCAAGACGGCAAA

Chromosome:

3:58077235

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant

Allele Origin:

G(germline)/T(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58077235T>G, NC_000003.11:g.58062962T>G, NC_000003.12:g.58077235T>G, NG_012801.1:g.73836T>G, NM_001164317.1:c.482T>G, NM_001164318.1:c.482T>G, NM_001164319.1:c.482T>G, NM_001457.2:c.482T>G, NM_001457.3:c.482T>G, NP_001157789.1:p.Phe161Cys, NP_001157790.1:p.Phe161Cys, NP_001157791.1:p.Phe161Cys, NP_001448.2:p.Phe161Cys, XP_005265034.1:p.Phe161Cys, XP_005265035.1:p.Phe161Cys, XP_005265038.1:p.Phe161Cys, XP_005265039.1:p.Phe161Cys, XR_001740065.1:n.627T>G, XR_940396.2:n.627T>G

CAGAACTGGCAAGACGGCAAAGCCC[A/G/T]GGGAGCCCTGGTAGACAGCTGTGCT

Chromosome:

3:58077265

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant

Allele Origin:

G(germline)/T(germline)/A(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58077265T>A, NC_000003.11:g.58062992T>A, NC_000003.11:g.58062992T>G, NC_000003.12:g.58077265T>A, NC_000003.12:g.58077265T>G, NG_012801.1:g.73866T>A, NG_012801.1:g.73866T>G, NM_001164317.1:c.512T>A, NM_001164317.1:c.512T>G, NM_001164318.1:c.512T>A, NM_001164318.1:c.512T>G, NM_001164319.1:c.512T>A, NM_001164319.1:c.512T>G, NM_001457.2:c.512T>A, NM_001457.2:c.512T>G, NM_001457.3:c.512T>A, NM_001457.3:c.512T>G, NP_001157789.1:p.Leu171Arg, NP_001157789.1:p.Leu171Gln, NP_001157790.1:p.Leu171Arg, NP_001157790.1:p.Leu171Gln, NP_001157791.1:p.Leu171Arg, NP_001157791.1:p.Leu171Gln, NP_001448.2:p.Leu171Arg, NP_001448.2:p.Leu171Gln, XP_005265034.1:p.Leu171Arg, XP_005265034.1:p.Leu171Gln, XP_005265035.1:p.Leu171Arg, XP_005265035.1:p.Leu171Gln, XP_005265038.1:p.Leu171Arg, XP_005265038.1:p.Leu171Gln, XP_005265039.1:p.Leu171Arg, XP_005265039.1:p.Leu171Gln, XR_001740065.1:n.657T>A, XR_001740065.1:n.657T>G, XR_940396.2:n.657T>A, XR_940396.2:n.657T>G

TCAGAAGGTCAAAGTGTTTGGGCCA[C/G]GTGTGGAGAGAAGTGGTCTGAAGGC

Chromosome:

3:58109627

Gene:

FLNB (GeneView)

Functional Consequence:

missense,nc transcript variant

Allele Origin:

G(germline)/C(germline)

Clinical significance:

Pathogenic

Validated:

by cluster

HGVS:

CM000665.2:g.58109627G>C, NC_000003.11:g.58095354G>C, NC_000003.12:g.58109627G>C, NG_012801.1:g.106228G>C, NM_001164317.1:c.2251G>C, NM_001164318.1:c.2251G>C, NM_001164319.1:c.2251G>C, NM_001457.2:c.2251G>C, NM_001457.3:c.2251G>C, NP_001157789.1:p.Gly751Arg, NP_001157790.1:p.Gly751Arg, NP_001157791.1:p.Gly751Arg, NP_001448.2:p.Gly751Arg, XP_005265034.1:p.Gly751Arg, XP_005265035.1:p.Gly751Arg, XP_005265036.1:p.Gly582Arg, XP_005265037.1:p.Gly582Arg, XP_005265038.1:p.Gly751Arg, XP_005265039.1:p.Gly751Arg, XR_001740065.1:n.2396G>C, XR_940396.2:n.2396G>C