Full data view for gene RECQL4

Information The variants shown are described using the NM_004260.3 transcript reference sequence.

345 entries on 4 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.-3374T>C r.(?) p.(=) Unknown - likely benign g.145746542A>G g.144521158A>G LRRC14(NM_001272036.1):c.1162A>G (p.I388V) - LRRC14_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.-2661C>A r.(?) p.(=) Unknown - likely benign g.145745829G>T g.144520445G>T LRRC14(NM_001272036.1):c.537G>T (p.A179=) - LRRC14_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-2579T>A r.(?) p.(=) Unknown - VUS g.145745747A>T g.144520363A>T LRRC14(NM_001272036.1):c.455A>T (p.(Gln152Leu)) - LRRC14_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.20T>G r.(?) p.(Val7Gly) Unknown - likely benign g.145743149A>C g.144517765A>C RECQL4(NM_004260.3):c.20T>G (p.(Val7Gly)) - RECQL4_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.29G>A r.(?) p.(Arg10Gln) Unknown - VUS g.145743140C>T - RECQL4(NM_004260.3):c.29G>A (p.R10Q) - RECQL4_000264 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85-13G>T r.(=) p.(=) Unknown - likely benign g.145743032C>A g.144517648C>A RECQL4(NM_004260.3):c.85-13G>T - RECQL4_000228 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132A>G r.(?) p.(Glu44=) Unknown - benign g.145742879T>C g.144517495T>C RECQL4(NM_004260.3):c.132A>G (p.E44=) - RECQL4_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.132A>G r.(?) p.(Glu44=) Unknown - benign g.145742879T>C g.144517495T>C RECQL4(NM_004260.3):c.132A>G (p.E44=) - RECQL4_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 15 c.161A>G r.(?) p.(Gln54Arg) Unknown - likely benign g.145742850T>C g.144517466T>C - - RECQL4_000045 - - - - Germline yes 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - F no Greece Caucasian >11y 0 - - 1 Sabina Gallati, Prof.
-/. - c.161A>G r.(?) p.(Gln54Arg) Unknown - benign g.145742850T>C g.144517466T>C RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)) - RECQL4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.161A>G r.(?) p.(Gln54Arg) Unknown - benign g.145742850T>C g.144517466T>C RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)) - RECQL4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.161A>G r.(?) p.(Gln54Arg) Unknown - likely benign g.145742850T>C g.144517466T>C RECQL4(NM_004260.3):c.161A>G (p.Q54R, p.(Gln54Arg)) - RECQL4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.195C>G r.(?) p.(Leu65=) Unknown - benign g.145742816G>C g.144517432G>C RECQL4(NM_004260.3):c.195C>G (p.L65=) - RECQL4_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 3 c.212A>G r.(?) p.(Glu71Gly) Unknown - likely pathogenic g.145742799T>C g.144517415T>C - - RECQL4_000044 - - - - Germline - 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - M no France Caucasian >16y 0 - - 1 Sabina Gallati, Prof.
-/. - c.212A>G r.(?) p.(Glu71Gly) Unknown - benign g.145742799T>C g.144517415T>C RECQL4(NM_004260.3):c.212A>G (p.E71G) - RECQL4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.213+6del r.(=) p.(=) Unknown - likely benign g.145742794del g.144517410del - - RECQL4_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 3i c.213+10C>G r.(=) p.(=) Maternal (inferred) - likely benign g.145742788G>C g.144517404G>C - - RECQL4_000043 - - - - Germline ? 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - M no Australia Caucasian >04y 0 - - 1 Sabina Gallati, Prof.
-?/. - c.214-3C>T r.spl? p.? Unknown - likely benign g.145742577G>A g.144517193G>A RECQL4(NM_004260.3):c.214-3C>T - RECQL4_000238 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.274= r.(=) p.(Pro92=) Unknown - benign g.145742514A>G g.144517130A>G RECQL4(NM_004260.3):c.274T>C (p.S92P) - RECQL4_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.274C>T r.(?) p.(Pro92Ser) Both (homozygous) - VUS g.145742514G>A g.144517130G>A - - RECQL4_000042 Variant Error [EREF/EREF]: This genomic variant does not match the reference sequence; the transcript variant does not match the reference sequence either. Please fix this entry and then remove this message. - - - Germline ? 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - F ? (Ireland) Caucasian >08y 0 - - 1 Sabina Gallati, Prof.
?/. - c.308C>T r.(?) p.(Pro103Leu) Unknown - VUS g.145742480G>A g.144517096G>A RECQL4(NM_004260.3):c.308C>T (p.P103L) - RECQL4_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.309G>A r.(?) p.(Pro103=) Unknown - benign g.145742479C>T g.144517095C>T RECQL4(NM_004260.3):c.309G>A (p.P103=) - RECQL4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.309G>A r.(?) p.(Pro103=) Unknown - likely benign g.145742479C>T g.144517095C>T RECQL4(NM_004260.3):c.309G>A (p.P103=) - RECQL4_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.337C>A r.(?) p.(Leu113Met) Unknown - VUS g.145742451G>T g.144517067G>T RECQL4(NM_004260.3):c.337C>A (p.L113M) - RECQL4_000227 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.355-8C>T r.(=) p.(=) Unknown - likely benign g.145742156G>A g.144516772G>A RECQL4(NM_004260.3):c.355-8C>T - RECQL4_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.358G>C r.(?) p.(Gly120Arg) Unknown - likely benign g.145742145C>G g.144516761C>G RECQL4(NM_004260.3):c.358G>C (p.G120R) - RECQL4_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.445C>T r.(?) p.(Pro149Ser) Unknown - likely benign g.145742058G>A - RECQL4(NM_004260.3):c.445C>T (p.P149S) - RECQL4_000263 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.465C>G r.(?) p.(Val155=) Unknown - benign g.145742038G>C g.144516654G>C RECQL4(NM_004260.3):c.465C>G (p.V155=) - RECQL4_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.492G>A r.(?) p.(Glu164=) Unknown - benign g.145742011C>T g.144516627C>T RECQL4(NM_004260.3):c.492G>A (p.E164=) - RECQL4_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.514C>T r.(?) p.(Leu172Phe) Parent #1 - likely benign g.145741989G>A g.144516605G>A - - RECQL4_000231 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs188859497 Germline - 1/2788 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
-?/. - c.543G>A r.(?) p.(Gln181=) Unknown - likely benign g.145741960C>T g.144516576C>T RECQL4(NM_004260.3):c.543G>A (p.Q181=) - RECQL4_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543G>A r.(?) p.(Gln181=) Unknown - likely benign g.145741960C>T g.144516576C>T RECQL4(NM_004260.3):c.543G>A (p.Q181=) - RECQL4_000205 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.558_564dup r.(?) p.(Gly189Argfs*11) Paternal (confirmed) - likely pathogenic g.145741942_145741948dup g.144516558_144516564dup - - RECQL4_000041 - - - - Germline yes 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - M no Switzerland Cacasian >17y 0 - - 1 Sabina Gallati, Prof.
-?/. - c.565G>A r.(?) p.(Gly189Ser) Unknown - likely benign g.145741938C>T - RECQL4(NM_004260.3):c.565G>A (p.G189S) - RECQL4_000204 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.607G>A r.(?) p.(Gly203Arg) Unknown - likely benign g.145741896C>T g.144516512C>T RECQL4(NM_004260.3):c.607G>A (p.(Gly203Arg)) - RECQL4_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.608G>A r.(?) p.(Gly203Glu) Unknown - VUS g.145741895C>T g.144516511C>T RECQL4(NM_004260.3):c.608G>A (p.(Gly203Glu)) - RECQL4_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>G r.(?) p.(Pro205=) Unknown - likely benign g.145741888G>C g.144516504G>C RECQL4(NM_004260.3):c.615C>G (p.P205=) - RECQL4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.615C>G r.(?) p.(Pro205=) Unknown - likely benign g.145741888G>C - RECQL4(NM_004260.3):c.615C>G (p.P205=) - RECQL4_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.691G>A r.(?) p.(Gly231Ser) Maternal (confirmed) - likely pathogenic g.145741812C>T g.144516428C>T - - RECQL4_000052 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - RTS - - affected F no China Asian 05y06m 0 - - 2 Baoheng Gui
+?/. 5 c.691G>A r.(?) p.(Gly231Ser) Maternal (confirmed) - likely pathogenic g.145741812C>T g.144516428C>T - - RECQL4_000052 - - - - Germline yes - - 0 - DNA SEQ-NG-I blood - RTS - - affected F no China Asian 00y10m 0 - - 1 Baoheng Gui
-?/. - c.706G>A r.(?) p.(Gly236Ser) Unknown - likely benign g.145741797C>T - RECQL4(NM_004260.3):c.706G>A (p.(Gly236Ser)) - RECQL4_000243 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.716C>T r.(?) p.(Ala239Val) Unknown - likely benign g.145741787G>A g.144516403G>A RECQL4(NM_004260.3):c.716C>T (p.A239V) - RECQL4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.716C>T r.(?) p.(Ala239Val) Unknown - likely benign g.145741787G>A g.144516403G>A RECQL4(NM_004260.3):c.716C>T (p.A239V) - RECQL4_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.720A>C r.(?) p.(Ser240=) Unknown - likely benign g.145741783T>G g.144516399T>G RECQL4(NM_004260.3):c.720A>C (p.S240=) - RECQL4_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.723C>G r.(?) p.(Ala241=) Unknown - likely benign g.145741780G>C g.144516396G>C RECQL4(NM_004260.3):c.723C>G (p.A241=) - RECQL4_000202 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.738C>T r.(?) p.(Ser246=) Unknown - benign g.145741765G>A g.144516381G>A RECQL4(NM_004260.3):c.738C>T (p.S246=) - RECQL4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.738C>T r.(?) p.(Ser246=) Unknown - benign g.145741765G>A g.144516381G>A RECQL4(NM_004260.3):c.738C>T (p.S246=) - RECQL4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.755C>T r.(?) p.(Pro252Leu) Unknown - likely benign g.145741748G>A g.144516364G>A RECQL4(NM_004260.3):c.755C>T (p.(Pro252Leu)) - RECQL4_000201 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.801G>C r.(?) p.(Glu267Asp) Unknown - benign g.145741702C>G g.144516318C>G RECQL4(NM_004260.3):c.801G>C (p.E267D) - RECQL4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.801G>C r.(?) p.(Glu267Asp) Unknown - benign g.145741702C>G g.144516318C>G RECQL4(NM_004260.3):c.801G>C (p.E267D) - RECQL4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 05 c.806G>A r.(806g>a) p.(Trp269*) Unknown - likely pathogenic g.145741697C>T g.144516313C>T c.806G>A (W269X); RAPADILINO 2 - RECQL4_000010 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2003 - rs137853231 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.885G>A r.(?) p.(Glu295=) Unknown - likely benign g.145741618C>T g.144516234C>T RECQL4(NM_004260.3):c.885G>A (p.E295=) - RECQL4_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.891C>T r.(?) p.(Asp297=) Unknown - likely benign g.145741612G>A - RECQL4(NM_004260.3):c.891C>T (p.D297=) - RECQL4_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1000G>T r.(?) p.(Glu334*) Both (homozygous) ACMG likely pathogenic g.145741503C>A g.144516119C>A - - RECQL4_000050 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - RTS - PubMed: Trujillano 2017 no information from parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.1000G>T r.(?) p.(Glu334Ter) Unknown - pathogenic g.145741503C>A g.144516119C>A RECQL4(NM_004260.3):c.1000G>T (p.E334*) - RECQL4_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1030C>T r.(?) p.(Arg344Trp) Unknown - VUS g.145741473G>A g.144516089G>A RECQL4(NM_004260.3):c.1030C>T (p.R344W) - RECQL4_000226 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1048A>G r.(?) p.(Arg350Gly) Unknown - likely benign g.145741455T>C g.144516071T>C RECQL4(NM_004260.3):c.1048A>G (p.R350G) - RECQL4_000225 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1048_1049del r.(?) p.(Arg350GlyfsTer21) Unknown - pathogenic g.145741454_145741455del g.144516070_144516071del RECQL4(NM_004260.3):c.1048_1049del (p.(Arg350GlyfsTer21)) - RECQL4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1048_1049del r.(?) p.(Arg350GlyfsTer21) Unknown - pathogenic g.145741454_145741455del g.144516070_144516071del RECQL4(NM_004260.3):c.1048_1049del (p.(Arg350GlyfsTer21)) - RECQL4_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1071C>T r.(?) p.(Asn357=) Unknown - likely benign g.145741432G>A g.144516048G>A RECQL4(NM_004260.3):c.1071C>T (p.N357=) - RECQL4_000199 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.1078C>T r.0? p.(Gln360*) Unknown - pathogenic g.145741425G>A g.144516041G>A - - RECQL4_000040 - - - - Germline yes 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - F no Denmark Caucasian >44y 0 - - 1 Sabina Gallati, Prof.
-/. - c.1090G>A r.(?) p.(Val364Met) Unknown - benign g.145741413C>T g.144516029C>T RECQL4(NM_004260.3):c.1090G>A (p.(Val364Met), p.V364M) - RECQL4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1090G>A r.(?) p.(Val364Met) Unknown - likely benign g.145741413C>T - RECQL4(NM_004260.3):c.1090G>A (p.(Val364Met), p.V364M) - RECQL4_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1115G>C r.(?) p.(Arg372Thr) Unknown - VUS g.145741388C>G - RECQL4(NM_004260.3):c.1115G>C (p.R372T, p.(Arg372Thr)) - RECQL4_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1115G>C r.(?) p.(Arg372Thr) Unknown - likely benign g.145741388C>G - RECQL4(NM_004260.3):c.1115G>C (p.R372T, p.(Arg372Thr)) - RECQL4_000254 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1131+9G>A r.(=) p.(=) Unknown - likely benign g.145741363C>T g.144515979C>T RECQL4(NM_004260.3):c.1131+9G>A - RECQL4_000198 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1132-9A>G r.(=) p.(=) Unknown - likely benign g.145741283T>C g.144515899T>C RECQL4(NM_004260.3):c.1132-9A>G - RECQL4_000197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1149G>A r.(?) p.(Trp383Ter) Unknown - pathogenic g.145741257C>T g.144515873C>T - - RECQL4_000196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1170T>C r.(?) p.(Phe390=) Unknown - VUS g.145741236A>G g.144515852A>G - - RECQL4_000195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1219G>A r.(?) p.(Glu407Lys) Unknown - likely benign g.145741187C>T g.144515803C>T RECQL4(NM_004260.3):c.1219G>A (p.(Glu407Lys)) - RECQL4_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. 6 c.1222C>T r.0? p.(Gln408*) Unknown - likely pathogenic g.145741184G>A g.144515800G>A - - RECQL4_000039 - - - - Germline yes 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - F no Denmark Caucasian >44y 0 - - 1 Sabina Gallati, Prof.
?/. - c.1237G>A r.(?) p.(Ala413Thr) Unknown - VUS g.145741169C>T g.144515785C>T RECQL4(NM_004260.3):c.1237G>A (p.A413T, p.(Ala413Thr)) - RECQL4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1237G>A r.(?) p.(Ala413Thr) Unknown - likely benign g.145741169C>T g.144515785C>T RECQL4(NM_004260.3):c.1237G>A (p.A413T, p.(Ala413Thr)) - RECQL4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1237G>A r.(?) p.(Ala413Thr) Unknown - VUS g.145741169C>T g.144515785C>T RECQL4(NM_004260.3):c.1237G>A (p.A413T, p.(Ala413Thr)) - RECQL4_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1238C>G r.(?) p.(Ala413Gly) Unknown - VUS g.145741168G>C g.144515784G>C RECQL4(NM_004260.3):c.1238C>G (p.A413G, p.(Ala413Gly)) - RECQL4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1238C>G r.(?) p.(Ala413Gly) Unknown - likely benign g.145741168G>C g.144515784G>C RECQL4(NM_004260.3):c.1238C>G (p.A413G, p.(Ala413Gly)) - RECQL4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1238C>G r.(?) p.(Ala413Gly) Unknown - VUS g.145741168G>C g.144515784G>C RECQL4(NM_004260.3):c.1238C>G (p.A413G, p.(Ala413Gly)) - RECQL4_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1258+6A>T r.(=) p.(=) Unknown - benign g.145741142T>A g.144515758T>A RECQL4(NM_004260.3):c.1258+6A>T - RECQL4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1258+6A>T r.(=) p.(=) Unknown - benign g.145741142T>A g.144515758T>A RECQL4(NM_004260.3):c.1258+6A>T - RECQL4_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1258+18G>A r.(=) p.(=) Unknown - benign g.145741130C>T g.144515746C>T RECQL4(NM_004260.3):c.1258+18G>A - RECQL4_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1348G>A r.(?) p.(Val450Met) Unknown - VUS g.145740752C>T g.144515368C>T RECQL4(NM_004260.3):c.1348G>A (p.(Val450Met)) - RECQL4_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1372C>T r.(?) p.(Pro458Ser) Unknown - VUS g.145740728G>A g.144515344G>A RECQL4(NM_004260.3):c.1372C>T (p.(Pro458Ser)) - RECQL4_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 07i c.1390+2del r.1259_1390del p.Ala420_Ala463del Unknown - pathogenic g.145740708del g.144515324del IVS7+2delT leading skipping of exon 7; RAPADILINO 1 - RECQL4_000011 12 Finnish families (8 hom and 4 com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2003, PubMed: Siitonen et al. 2009 - - SUMMARY record yes 2/274 cont(het) - - - - - - - - - - - - - - - - - - - - -
+/. - c.1390+2del r.spl? p.? Unknown - pathogenic g.145740708del g.144515324del - - RECQL4_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1390+3G>A r.spl? p.? Unknown - likely benign g.145740707C>T g.144515323C>T RECQL4(NM_004260.3):c.1390+3G>A (p.?, ) - RECQL4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1390+3G>A r.spl? p.? Unknown - likely benign g.145740707C>T g.144515323C>T RECQL4(NM_004260.3):c.1390+3G>A (p.?, ) - RECQL4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1390+3G>A r.spl? p.? Unknown - likely benign g.145740707C>T g.144515323C>T RECQL4(NM_004260.3):c.1390+3G>A (p.?, ) - RECQL4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1390+3G>A r.spl? p.? Unknown - likely benign g.145740707C>T g.144515323C>T RECQL4(NM_004260.3):c.1390+3G>A (p.?, ) - RECQL4_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 7i c.1391-6C>A r.(=) p.(=) Unknown - VUS g.145740632G>T g.144515248G>T - - RECQL4_000038 - - - - Germline ? 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - F ? (Ireland) Caucasian >08y 0 - - 1 Sabina Gallati, Prof.
+/. 7i c.1391-1G>A r.spl? p.? Maternal (confirmed) - pathogenic g.145740627C>T g.144515243C>T - - RECQL4_000037 - - - - Germline yes 1/45 patients - 0 - DNA SEQ EDTA blood - RTS - - - F no United Kingdom (Great Britain) Caucasian >09y 0 - - 1 Sabina Gallati, Prof.
+/. - c.1391-1G>A r.spl? p.? Unknown - pathogenic g.145740627C>T g.144515243C>T - - RECQL4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1391-1G>A r.(?) p.(?) Unknown ACMG pathogenic g.145740627C>T g.144515243C>T - - RECQL4_000037 ACMG grading: PVS1,PM2,PP5; BC at age 48y and 50y; Lindor et al. 2000. Am J Med Genet 90: 223; van Rij et al. 2017. Eur J Pediatr 176: 279 - - rs117642173 Germline - - - 0 - DNA SEQ-NG-S - - ? - - - F - - - - 0 - - 1 Andreas Laner
-/. - c.1395G>A r.(?) p.(Thr465=) Unknown - benign g.145740622C>T g.144515238C>T RECQL4(NM_004260.3):c.1395G>A (p.T465=) - RECQL4_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 08 c.1397C>T r.(1397c>u) p.(Pro466Leu) Unknown - likely pathogenic g.145740620G>A g.144515236G>A - - RECQL4_000012 1 Finnish family (com-het) with RAPADILINO syndrome PubMed: Siitonen et al. 2009 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1398G>A r.(?) p.(Pro466=) Unknown - likely benign g.145740619C>T g.144515235C>T RECQL4(NM_004260.3):c.1398G>A (p.P466=) - RECQL4_000224 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1445G>A r.(?) p.(Arg482His) Unknown - VUS g.145740572C>T g.144515188C>T RECQL4(NM_004260.3):c.1445G>A (p.R482H) - RECQL4_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1460G>A r.(?) p.(Arg487His) Unknown - likely benign g.145740557C>T - RECQL4(NM_004260.3):c.1460G>A (p.R487H) - RECQL4_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1485C>T r.(?) p.(Gly495=) Unknown - VUS g.145740455G>A - RECQL4(NM_004260.3):c.1485C>T (p.G495=) - RECQL4_000242 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1548G>A r.(?) p.(Ala516=) Unknown - likely benign g.145740392C>T g.144515008C>T RECQL4(NM_004260.3):c.1548G>A (p.A516=) - RECQL4_000193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1564C>T r.(?) p.(Arg522Cys) Parent #1 - benign g.145740376G>A g.144514992G>A - - RECQL4_000230 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs35407712 Germline - 1/2793 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
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