Full data view for gene FRAS1

Information The variants shown are described using the NM_025074.6 transcript reference sequence.

645 entries on 7 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.-23C>T r.(?) p.(=) Unknown - benign g.78979141C>T g.78057987C>T FRAS1(NM_025074.7):c.-23C>T - FRAS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76+19_76+20insCGTG r.(=) p.(=) Unknown - likely benign g.78979258_78979259insCGTG - FRAS1(NM_025074.7):c.76+18_76+19insGCGT - FRAS1_000443 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+30_76+35dup r.(=) p.(=) Unknown - benign g.78979269_78979274dup g.78058115_78058120dup FRAS1(NM_025074.7):c.76+27_76+32dupGTGTGT - FRAS1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+32_76+35dup r.(=) p.(=) Unknown - benign g.78979271_78979274dup - FRAS1(NM_025074.7):c.76+31_76+34dupGTGT - FRAS1_000460 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76+34_76+35del r.(=) p.(=) Unknown - likely benign g.78979273_78979274del - FRAS1(NM_025074.7):c.76+34_76+35delTG - FRAS1_000536 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+34_76+35dup r.(=) p.(=) Unknown - benign g.78979273_78979274dup g.78058119_78058120dup FRAS1(NM_025074.7):c.76+33_76+34dupGT - FRAS1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+34_76+35dup r.(=) p.(=) Unknown - benign g.78979273_78979274dup - FRAS1(NM_025074.7):c.76+33_76+34dupGT - FRAS1_000296 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.76+36C>T r.(=) p.(=) Unknown - benign g.78979275C>T g.78058121C>T FRAS1(NM_025074.7):c.76+36C>T - FRAS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.76+36_76+37del r.(=) p.(=) Unknown - likely benign g.78979275_78979276del g.78058121_78058122del FRAS1(NM_025074.7):c.76+36_76+37delCG - FRAS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.95A>G r.(?) p.(Asp32Gly) Unknown - benign g.78987157A>G g.78066003A>G FRAS1(NM_025074.7):c.95A>G (p.D32G) - FRAS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.95A>G r.(?) p.(Asp32Gly) Unknown - benign g.78987157A>G g.78066003A>G FRAS1(NM_025074.7):c.95A>G (p.D32G) - FRAS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.107C>T r.(?) p.(Ala36Val) Unknown - likely benign g.78987169C>T g.78066015C>T FRAS1(NM_025074.7):c.107C>T (p.A36V) - FRAS1_000297 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.108+2T>C r.spl? p.? Unknown - pathogenic g.78987172T>C g.78066018T>C FRAS1(NM_025074.7):c.108+2T>C - FRAS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108+10T>G r.(=) p.(=) Unknown - likely benign g.78987180T>G - FRAS1(NM_025074.7):c.108+10T>G - FRAS1_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.108+10T>G r.(=) p.(=) Unknown - likely benign g.78987180T>G - FRAS1(NM_025074.7):c.108+10T>G - FRAS1_000424 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+114A>C r.(=) p.(=) Unknown - benign g.78987284A>C g.78066130A>C FRAS1(NM_025074.7):c.108+114A>C - FRAS1_000285 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+115C>A r.(=) p.(=) Unknown - benign g.78987285C>A g.78066131C>A FRAS1(NM_025074.7):c.108+115C>A - FRAS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+158A>G r.(=) p.(=) Unknown - benign g.78987328A>G g.78066174A>G FRAS1(NM_025074.7):c.108+158A>G - FRAS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+2460G>A r.(=) p.(=) Unknown - benign g.78989630G>A g.78068476G>A FRAS1(NM_025074.7):c.108+2460G>A - FRAS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+2502G>C r.(=) p.(=) Unknown - benign g.78989672G>C g.78068518G>C FRAS1(NM_025074.7):c.108+2502G>C - FRAS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+2546T>C r.(=) p.(=) Unknown - benign g.78989716T>C g.78068562T>C FRAS1(NM_025074.7):c.108+2546T>C - FRAS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+2546T>C r.(=) p.(=) Unknown - benign g.78989716T>C g.78068562T>C FRAS1(NM_025074.7):c.108+2546T>C - FRAS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+2672G>A r.(=) p.(=) Unknown - benign g.78989842G>A g.78068688G>A FRAS1(NM_025074.7):c.108+2672G>A - FRAS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.108+2769G>A r.(=) p.(=) Unknown - benign g.78989939G>A g.78068785G>A FRAS1(NM_025074.7):c.108+2769G>A - FRAS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.109-32879C>T r.(=) p.(=) Unknown - benign g.79125785C>T g.78204631C>T FRAS1(NM_025074.7):c.109-32879C>T - FRAS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.149G>A r.(?) p.(Arg50His) Unknown - likely benign g.79158704G>A - FRAS1(NM_025074.7):c.149G>A (p.R50H) - FRAS1_000444 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160G>C r.(?) p.(Asp54His) Unknown - benign g.79158715G>C g.78237561G>C FRAS1(NM_025074.7):c.160G>C (p.D54H) - FRAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.160G>C r.(?) p.(Asp54His) Unknown - benign g.79158715G>C g.78237561G>C FRAS1(NM_025074.7):c.160G>C (p.D54H) - FRAS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.201A>G r.(?) p.(Gln67=) Unknown - likely benign g.79158756A>G g.78237602A>G FRAS1(NM_025074.7):c.201A>G (p.Q67=) - FRAS1_000298 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216+4C>T r.spl? p.? Unknown - likely benign g.79158775C>T - FRAS1(NM_025074.7):c.216+4C>T - FRAS1_000538 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216+72G>T r.(=) p.(=) Unknown - benign g.79158843G>T g.78237689G>T FRAS1(NM_025074.7):c.216+72G>T - FRAS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237T>C r.(?) p.(Ala79=) Unknown - likely benign g.79166407T>C - FRAS1(NM_025074.7):c.237T>C (p.A79=) - FRAS1_000488 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.308A>T r.(?) p.(Glu103Val) Unknown - benign g.79166478A>T g.78245324A>T FRAS1(NM_001166133.1):c.308A>T (p.(Glu103Val)), FRAS1(NM_025074.7):c.308A>T (p.E103V) - FRAS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.308A>T r.(?) p.(Glu103Val) Unknown - likely benign g.79166478A>T g.78245324A>T FRAS1(NM_001166133.1):c.308A>T (p.(Glu103Val)), FRAS1(NM_025074.7):c.308A>T (p.E103V) - FRAS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309+89T>G r.(=) p.(=) Unknown - benign g.79166568T>G g.78245414T>G FRAS1(NM_025074.7):c.309+89T>G - FRAS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.310-21T>C r.(=) p.(=) Unknown - benign g.79173525T>C g.78252371T>C FRAS1(NM_025074.7):c.310-21T>C - FRAS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.310-20del r.(=) p.(=) Unknown - benign g.79173526del g.78252372del FRAS1(NM_025074.7):c.310-20delT - FRAS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.311A>G r.(?) p.(His104Arg) Unknown - VUS g.79173547A>G - FRAS1(NM_025074.7):c.311A>G (p.(His104Arg)) - FRAS1_000517 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370C>T r.(?) p.(Arg124Ter) Unknown - pathogenic g.79173606C>T g.78252452C>T FRAS1(NM_025074.6):c.370C>T (p.(Arg124*)), FRAS1(NM_025074.7):c.370C>T (p.R124*) - FRAS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370C>T r.(?) p.(Arg124Ter) Unknown - pathogenic g.79173606C>T - FRAS1(NM_025074.6):c.370C>T (p.(Arg124*)), FRAS1(NM_025074.7):c.370C>T (p.R124*) - FRAS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.370C>T r.(?) p.(Arg124Ter) Both (homozygous) - pathogenic (recessive) g.79173606C>T g.78252452C>T - - FRAS1_000025 - PubMed: Boissel 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 051-102-OHU PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
-/. - c.380C>G r.(?) p.(Pro127Arg) Unknown - benign g.79173616C>G g.78252462C>G FRAS1(NM_025074.7):c.380C>G (p.P127R, p.(Pro127Arg)) - FRAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380C>G r.(?) p.(Pro127Arg) Unknown - benign g.79173616C>G g.78252462C>G FRAS1(NM_025074.7):c.380C>G (p.P127R, p.(Pro127Arg)) - FRAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.380C>G r.(?) p.(Pro127Arg) Unknown - benign g.79173616C>G g.78252462C>G FRAS1(NM_025074.7):c.380C>G (p.P127R, p.(Pro127Arg)) - FRAS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.469A>T r.(?) p.(Lys157Ter) Unknown - likely pathogenic g.79173705A>T g.78252551A>T FRAS1(NM_001166133.1):c.469A>T (p.(Lys157Ter)) - FRAS1_000300 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.470-151G>A r.(=) p.(=) Unknown - benign g.79176245G>A g.78255091G>A FRAS1(NM_025074.7):c.470-151G>A - FRAS1_000301 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.470-71C>T r.(=) p.(=) Unknown - benign g.79176325C>T g.78255171C>T FRAS1(NM_025074.7):c.470-71C>T - FRAS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.470-35T>C r.(=) p.(=) Unknown - benign g.79176361T>C g.78255207T>C FRAS1(NM_025074.7):c.470-35T>C - FRAS1_000302 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.491A>G r.(?) p.(His164Arg) Unknown - VUS g.79176417A>G - FRAS1(NM_025074.7):c.491A>G (p.H164R) - FRAS1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.518G>A r.(?) p.(Arg173Gln) Unknown - benign g.79176444G>A g.78255290G>A FRAS1(NM_001166133.1):c.518G>A (p.(Arg173Gln)), FRAS1(NM_025074.7):c.518G>A (p.R173Q) - FRAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518G>A r.(?) p.(Arg173Gln) Unknown - likely benign g.79176444G>A g.78255290G>A FRAS1(NM_001166133.1):c.518G>A (p.(Arg173Gln)), FRAS1(NM_025074.7):c.518G>A (p.R173Q) - FRAS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.518G>A r.(?) p.(Arg173Gln) Parent #1 - VUS g.79176444G>A g.78255290G>A - - FRAS1_000028 47 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147332320 Germline - 47/2789 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 47 Mohammed Faruq
-?/. - c.527G>A r.(?) p.(Arg176Gln) Unknown - likely benign g.79176453G>A g.78255299G>A FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)), FRAS1(NM_025074.7):c.527G>A (p.R176Q) - FRAS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.527G>A r.(?) p.(Arg176Gln) Unknown - likely benign g.79176453G>A g.78255299G>A FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)), FRAS1(NM_025074.7):c.527G>A (p.R176Q) - FRAS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.527G>A r.(?) p.(Arg176Gln) Unknown - likely benign g.79176453G>A - FRAS1(NM_001166133.1):c.527G>A (p.(Arg176Gln)), FRAS1(NM_025074.7):c.527G>A (p.R176Q) - FRAS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539G>T r.(?) p.(Cys180Phe) Unknown - VUS g.79176465G>T g.78255311G>T FRAS1(NM_025074.7):c.539G>T (p.C180F) - FRAS1_000303 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.572C>T r.(?) p.(Thr191Ile) Unknown - benign g.79176498C>T g.78255344C>T FRAS1(NM_025074.7):c.572C>T (p.T191I) - FRAS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.603+2T>A r.spl? p.? Unknown - pathogenic g.79176531T>A g.78255377T>A FRAS1(NM_025074.7):c.603+2T>A - FRAS1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.603+17C>T r.(=) p.(=) Unknown - likely benign g.79176546C>T - FRAS1(NM_025074.7):c.603+17C>T - FRAS1_000462 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.604-132G>A r.(=) p.(=) Unknown - benign g.79186047G>A g.78264893G>A FRAS1(NM_025074.7):c.604-132G>A - FRAS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.604-132G>A r.(=) p.(=) Unknown - benign g.79186047G>A g.78264893G>A FRAS1(NM_025074.7):c.604-132G>A - FRAS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.604-8G>A r.(=) p.(=) Unknown - benign g.79186171G>A g.78265017G>A FRAS1(NM_025074.7):c.604-8G>A - FRAS1_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.604-8G>A r.(=) p.(=) Unknown - benign g.79186171G>A g.78265017G>A FRAS1(NM_025074.7):c.604-8G>A - FRAS1_000304 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.641C>T r.(?) p.(Pro214Leu) Unknown - VUS g.79186216C>T g.78265062C>T FRAS1(NM_025074.7):c.641C>T (p.P214L) - FRAS1_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.641C>T r.(?) p.(Pro214Leu) Unknown - likely benign g.79186216C>T g.78265062C>T FRAS1(NM_025074.7):c.641C>T (p.P214L) - FRAS1_000305 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.653C>G r.(?) p.(Ala218Gly) Unknown - VUS g.79186228C>G - FRAS1(NM_025074.7):c.653C>G (p.A218G) - FRAS1_000425 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.687+69C>T r.(=) p.(=) Unknown - benign g.79186331C>T g.78265177C>T FRAS1(NM_025074.7):c.687+69C>T - FRAS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.687+122A>G r.(=) p.(=) Unknown - benign g.79186384A>G g.78265230A>G FRAS1(NM_025074.7):c.687+122A>G - FRAS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.687+127A>G r.(=) p.(=) Unknown - benign g.79186389A>G g.78265235A>G FRAS1(NM_025074.7):c.687+127A>G - FRAS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.688-156G>A r.(=) p.(=) Unknown - benign g.79187832G>A g.78266678G>A FRAS1(NM_025074.7):c.688-156G>A - FRAS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.688-88T>G r.(=) p.(=) Unknown - benign g.79187900T>G g.78266746T>G FRAS1(NM_025074.7):c.688-88T>G - FRAS1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.688-5T>G r.spl? p.? Unknown - VUS g.79187983T>G g.78266829T>G FRAS1(NM_025074.7):c.688-5T>G - FRAS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.706G>A r.(?) p.(Glu236Lys) Unknown - likely benign g.79188006G>A g.78266852G>A FRAS1(NM_025074.7):c.706G>A (p.E236K) - FRAS1_000306 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.727A>G r.(?) p.(Ile243Val) Unknown - likely benign g.79188027A>G g.78266873A>G FRAS1(NM_001166133.1):c.727A>G (p.(Ile243Val)) - FRAS1_000307 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776T>G r.(?) p.(Leu259Arg) Unknown - likely benign g.79188076T>G g.78266922T>G FRAS1(NM_001166133.1):c.776T>G (p.(Leu259Arg)), FRAS1(NM_025074.7):c.776T>G (p.L259R) - FRAS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.776T>G r.(?) p.(Leu259Arg) Unknown - benign g.79188076T>G g.78266922T>G FRAS1(NM_001166133.1):c.776T>G (p.(Leu259Arg)), FRAS1(NM_025074.7):c.776T>G (p.L259R) - FRAS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.776T>G r.(?) p.(Leu259Arg) Unknown - likely benign g.79188076T>G g.78266922T>G FRAS1(NM_001166133.1):c.776T>G (p.(Leu259Arg)), FRAS1(NM_025074.7):c.776T>G (p.L259R) - FRAS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.788A>T r.(?) p.(Lys263Met) Unknown - VUS g.79188088A>T - FRAS1(NM_025074.7):c.788A>T (p.(Lys263Met)) - FRAS1_000543 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789+7G>A r.(=) p.(=) Unknown - likely benign g.79188096G>A g.78266942G>A FRAS1(NM_025074.7):c.789+7G>A - FRAS1_000308 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789+12T>G r.(=) p.(=) Unknown - likely benign g.79188101T>G g.78266947T>G FRAS1(NM_025074.7):c.789+12T>G - FRAS1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789+71C>T r.(=) p.(=) Unknown - benign g.79188160C>T g.78267006C>T FRAS1(NM_025074.7):c.789+71C>T - FRAS1_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.789+72G>A r.(=) p.(=) Unknown - benign g.79188161G>A g.78267007G>A FRAS1(NM_025074.7):c.789+72G>A - FRAS1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.806G>A r.(?) p.(Arg269Gln) Unknown - likely benign g.79188411G>A - FRAS1(NM_025074.7):c.806G>A (p.R269Q) - FRAS1_000507 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.875G>A r.(?) p.(Arg292Gln) Unknown - VUS g.79188480G>A - FRAS1(NM_025074.7):c.875G>A (p.(Arg292Gln)) - FRAS1_000539 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886G>A r.(?) p.(Glu296Lys) Unknown - VUS g.79188491G>A g.78267337G>A FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Glu296Lys) Unknown - likely benign g.79188491G>A g.78267337G>A FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.886G>A r.(?) p.(Glu296Lys) Unknown - VUS g.79188491G>A - FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Glu296Lys) Unknown - likely benign g.79188491G>A - FRAS1(NM_001166133.1):c.886G>A (p.(Glu296Lys)), FRAS1(NM_025074.7):c.886G>A (p.E296K) - FRAS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.934C>T r.(?) p.(Gln312Ter) Unknown - pathogenic g.79188539C>T g.78267385C>T FRAS1(NM_025074.7):c.934C>T (p.Q312*) - FRAS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.969G>A r.(?) p.(Val323=) Unknown - likely benign g.79188574G>A g.78267420G>A FRAS1(NM_025074.7):c.969G>A (p.V323=) - FRAS1_000311 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.979C>T r.(?) p.(Arg327Trp) Unknown - benign g.79188584C>T g.78267430C>T FRAS1(NM_001166133.1):c.979C>T (p.(Arg327Trp)), FRAS1(NM_025074.7):c.979C>T (p.R327W) - FRAS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.979C>T r.(?) p.(Arg327Trp) Unknown - likely benign g.79188584C>T g.78267430C>T FRAS1(NM_001166133.1):c.979C>T (p.(Arg327Trp)), FRAS1(NM_025074.7):c.979C>T (p.R327W) - FRAS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.981+9C>T r.(=) p.(=) Unknown - benign g.79188595C>T g.78267441C>T FRAS1(NM_025074.7):c.981+9C>T - FRAS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.990A>G r.(?) p.(Glu330=) Unknown - likely benign g.79199817A>G - FRAS1(NM_025074.7):c.990A>G (p.E330=) - FRAS1_000463 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1071+40A>T r.(=) p.(=) Unknown - likely benign g.79199938A>T g.78278784A>T FRAS1(NM_025074.7):c.1071+40A>T - FRAS1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1072-66A>G r.(=) p.(=) Unknown - benign g.79202486A>G g.78281332A>G FRAS1(NM_025074.7):c.1072-66A>G - FRAS1_000286 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072-5C>T r.spl? p.? Unknown - likely benign g.79202547C>T g.78281393C>T FRAS1(NM_025074.7):c.1072-5C>T - FRAS1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093G>T r.(?) p.(Val365Phe) Unknown - VUS g.79202573G>T g.78281419G>T FRAS1(NM_001166133.1):c.1093G>T (p.(Val365Phe)) - FRAS1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1099C>T r.(?) p.(Arg367Cys) Both (homozygous) - VUS g.79202579C>T g.78281425C>T - - FRAS1_000422 - PubMed: Riazuddin 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID PKMR86 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - 1 Johan den Dunnen
-/. - c.1107+192G>A r.(=) p.(=) Unknown - benign g.79202779G>A g.78281625G>A FRAS1(NM_025074.7):c.1107+192G>A - FRAS1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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