Full data view for gene GTPBP2

Information The variants shown are described using the NM_019096.3 transcript reference sequence.

74 entries on 1 page. Showing entries 1 - 74.
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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.8C>A r.(?) p.(Ser3Ter) Both (homozygous) - pathogenic (recessive) g.43596892G>T g.43596892G>T g.43629155del - GTPBP2_000037 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam16Pat20 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Greece - - - - - 1 Vincenzo Salpietro
?/. - c.86G>C r.(?) p.(Gly29Ala) Unknown - VUS g.43596814C>G g.43629077C>G - - GTPBP2_000005 - - - rs112851070 Germline yes - - - - DNA SEQ-NG-I Blood - cancer, colon Fam110 - - - - - - - - - - 2 Xiang Jiao
+/. - c.278T>C r.(?) p.(Leu93Pro) Both (homozygous) - pathogenic (recessive) g.43594083A>G g.43626346A>G - - GTPBP2_000034 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam12Pat16 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - 1 Vincenzo Salpietro
+?/. 3 c.278T>C r.(?) p.(Leu93Pro) Both (homozygous) - likely pathogenic (recessive) g.43594083A>G g.43626346A>G - - GTPBP2_000034 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam13Pat17 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.361C>T r.(?) p.(Arg121Ter) Both (homozygous) - pathogenic (recessive) g.43594000G>A g.43626263G>A - - GTPBP2_000035 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam14Pat18 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - 1 Vincenzo Salpietro
+/. - c.374A>G r.(?) p.(Lys125Arg) Both (homozygous) - pathogenic (recessive) g.43593987T>C g.43626250T>C - - GTPBP2_000032 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - rs1399993191 Germline - - - - - DNA SEQ-NG - - ? Fam10Pat12 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Libya - - - - - 2 Vincenzo Salpietro
+?/. 3 c.374A>G r.(?) p.(Lys125Arg) Both (homozygous) - likely pathogenic (recessive) g.43593987T>C g.43626250T>C - - GTPBP2_000032 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - rs1399993191 Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam10Pat13 PubMed: Salpietro 2024, Journal: Salpietro 2024 sister F yes Libya - - - - - 1 Johan den Dunnen
+/. - c.430C>T r.(?) p.(Arg144*) Both (homozygous) - pathogenic g.43593570G>A g.43625833G>A - - GTPBP2_000003 - PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - - Germline - - - - - DNA SEQ-NG blood WES ID index family 3 PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - M yes Saudi Arabia - - - - - 1 Christian Beetz
+/. - c.655C>T r.(?) p.(Arg219*) Parent #2 - pathogenic (recessive) g.43593150G>A g.43625413G>A - - GTPBP2_000028 - PubMed: Carter 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Carter 2019 2-generation family, 1 affected, unaffected parents F no Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.955G>A r.(?) p.(Asp319Asn) Both (homozygous) - pathogenic (recessive) g.43592392C>T g.43624655C>T - - GTPBP2_000033 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam11Pat14 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected (brother/sister), unaffected heterozygous parents M yes Iran - - - - - 2 Vincenzo Salpietro
+?/. 7 c.955G>A r.(?) p.(Asp319Asn) Both (homozygous) - likely pathogenic (recessive) g.43592392C>T g.43624655C>T - - GTPBP2_000033 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam11Pat15 PubMed: Salpietro 2024, Journal: Salpietro 2024 sister F yes Iran - - - - - 1 Johan den Dunnen
+/. - c.994C>T r.(?) p.(Gln332*) Both (homozygous) - pathogenic (recessive) g.43592353G>A g.43624616G>A - - GTPBP2_000029 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - rs1252019134 Germline - - - - - DNA SEQ-NG - - ? Fam5Pat7 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Pakistan - - - - - 1 Vincenzo Salpietro
+/. - c.1053_1054del r.(?) p.(Glu352GlyfsTer2) Both (homozygous) - pathogenic (recessive) g.43592293_43592294del g.43624556_43624557del g.43624556del - GTPBP2_000036 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam15Pat19 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Egypt - - - - - 1 Vincenzo Salpietro
+/. - c.1219C>T r.(?) p.(Gln407*) Both (homozygous) - pathogenic g.43591687G>A g.43623950G>A - - GTPBP2_000001 - PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - - Germline yes - - - - DNA SEQ-NG blood WES ID index family 1 PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - F yes Saudi Arabia - - - - - 1 Christian Beetz
?/. - c.1236+1G>A r.spl? p.? Unknown - VUS g.43591669C>T g.43623932C>T - - GTPBP2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1236+1G>A r.spl p.? Both (homozygous) - pathogenic (recessive) g.43591669C>T g.43623932C>T - - GTPBP2_000004 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - rs770834648 Germline - - - - - DNA SEQ-NG - - ? Fam6Pat8 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - 1 Vincenzo Salpietro
+/. 8i c.1236+1G>A r.1236_1237ins[a;1236+1_1237-1] p.Val413Ilefs*8 Both (homozygous) - pathogenic (recessive) g.43591669C>T g.43623932C>T - - GTPBP2_000004 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA, RNA RT-PCR, SEQ-NG - - ? Fam9Pat11 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - 1 Vincenzo Salpietro
+/. 8i c.1237-1G>T r.1237_1295del p.Val413TrpfsTer5 Both (homozygous) - pathogenic (recessive) g.43591533C>A g.43623796C>A - - GTPBP2_000038 - PubMed: Jaberi 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD DS-100-3 PubMed: Jaberi 2016 5-generation family, 4 affected sibs (2F, 2M), unaffected heterozygous parents/relatives F yes Iran - - - - - 3 Johan den Dunnen
+/. 8i c.1237-1G>T r.1237_1295del p.Val413TrpfsTer5 Both (homozygous) - pathogenic (recessive) g.43591533C>A g.43623796C>A - - GTPBP2_000038 - PubMed: Jaberi 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD DS-100-4 PubMed: Jaberi 2016 brother M yes Iran - - - - - 1 Johan den Dunnen
+/. 8i c.1237-1G>T r.1237_1295del p.Val413TrpfsTer5 Both (homozygous) - pathogenic (recessive) g.43591533C>A g.43623796C>A - - GTPBP2_000038 - PubMed: Jaberi 2016 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES NDD DS-100-5 PubMed: Jaberi 2016 brother M yes Iran - - - - - 1 Johan den Dunnen
?/. - c.1316del r.(?) p.(Asp439Alafs*16) Unknown - VUS g.43590521del - GTPBP2(NM_019096.5):c.1316del (p.(Asp439Alafs*16)) - GTPBP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1408C>T r.(?) p.(Arg470*) Both (homozygous) - pathogenic g.43590429G>A g.43622692G>A - - GTPBP2_000002 - PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - - Germline yes - - - - DNA SEQ-NG blood WES ID index family 2 PubMed: Bertoli-Avella 2018, Journal: Bertoli-Avella 2018 - M yes Kuwait - - - - - 1 Christian Beetz
+/. - c.1408C>T r.(?) p.(Arg470*) Both (homozygous) - pathogenic (recessive) g.43590429G>A g.43622692G>A - - GTPBP2_000002 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam4Pat5 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Pakistan - - - - - 2 Vincenzo Salpietro
+/. - c.1408C>T r.(?) p.(Arg470*) Both (homozygous) - pathogenic (recessive) g.43590429G>A g.43622692G>A - - GTPBP2_000002 - PubMed: Carter 2019 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES NDD Fam2Pat2/3 PubMed: Carter 2019 2-generation family, 2 affected sisters, unaffected heterozygous parents F yes Somalia - - - - - 2 Johan den Dunnen
+?/. 10 c.1408C>T r.(?) p.(Arg470Ter) Both (homozygous) - likely pathogenic (recessive) g.43590429G>A g.43622692G>A - - GTPBP2_000002 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat6 PubMed: Salpietro 2024, Journal: Salpietro 2024 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.1527_1528del r.(?) p.(Glu509Aspfs*78) Both (homozygous) - pathogenic (recessive) g.43589847_43589848del g.43622110_43622111del g.43622107del - GTPBP2_000030 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam8Pat10 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents M yes Saudi Arabia - - - - - 1 Vincenzo Salpietro
+/. - c.1558C>T r.(?) p.(Arg520*) Parent #1 - pathogenic (recessive) g.43589814G>A g.43622077G>A - - GTPBP2_000027 - PubMed: Carter 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam1Pat1 PubMed: Carter 2019 2-generation family, 1 affected, unaffected parents F no Canada French-Canadian - - - - 1 Johan den Dunnen
+/. - c.1561C>T r.(?) p.(Arg521*) Both (homozygous) - pathogenic (recessive) g.43589811G>A g.43622074G>A - - GTPBP2_000031 - PubMed: Salpietro 2024, Journal: Salpietro 2024 - - Germline - - - - - DNA SEQ-NG - - ? Fam7Pat9 PubMed: Salpietro 2024, Journal: Salpietro 2024 2-generation family, 1 affected, unaffected heterozygous parents F yes Italy - - - - - 1 Vincenzo Salpietro
?/. - c.1762G>A r.(?) p.(Val588Ile) Unknown - VUS g.43589398C>T - GTPBP2(NM_019096.5):c.1762G>A (p.V588I) - GTPBP2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1799T>C r.(?) p.(Met600Thr) Unknown - likely benign g.43589361A>G - GTPBP2(NM_019096.5):c.1799T>C (p.(Met600Thr)) - GTPBP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7175G>T r.(=) p.(=) Unknown - VUS g.43582176C>A g.43614439C>A POLH(NM_006502.2):c.2024C>A (p.S675Y), POLH(NM_006502.3):c.2024C>A (p.S675Y) - GTPBP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7175G>T r.(=) p.(=) Unknown - likely benign g.43582176C>A - POLH(NM_006502.2):c.2024C>A (p.S675Y), POLH(NM_006502.3):c.2024C>A (p.S675Y) - GTPBP2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7234A>G r.(=) p.(=) Unknown - likely benign g.43582117T>C g.43614380T>C POLH(NM_006502.2):c.1965T>C (p.F655=) - GTPBP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7337G>A r.(=) p.(=) Unknown - likely benign g.43582014C>T - POLH(NM_006502.2):c.1862C>T (p.T621I) - GTPBP2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7384G>A r.(=) p.(=) Unknown - likely benign g.43581967C>T g.43614230C>T POLH(NM_006502.2):c.1815C>T (p.H605=) - POLH_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7416T>C r.(=) p.(=) Unknown - benign g.43581935A>G g.43614198A>G POLH(NM_001291969.1):c.1411A>G (p.(Met471Val)), POLH(NM_006502.3):c.1783A>G (p.M595V) - POLH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7416T>C r.(=) p.(=) Unknown - benign g.43581935A>G - POLH(NM_001291969.1):c.1411A>G (p.(Met471Val)), POLH(NM_006502.3):c.1783A>G (p.M595V) - POLH_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7449G>A r.(=) p.(=) Unknown - likely benign g.43581902C>T g.43614165C>T POLH(NM_006502.3):c.1750C>T (p.L584=) - POLH_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7596T>C r.(=) p.(=) Unknown - likely benign g.43581755A>G g.43614018A>G POLH(NM_006502.2):c.1603A>G (p.K535E) - GTPBP2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7596T>G r.(=) p.(=) Unknown - VUS g.43581755A>C - POLH(NM_006502.3):c.1603A>C (p.K535Q) - GTPBP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7631C>G r.(=) p.(=) Unknown - likely benign g.43581720G>C g.43613983G>C POLH(NM_006502.3):c.1568G>C (p.S523T) - POLH_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7689G>A r.(=) p.(=) Unknown - VUS g.43581662C>T - - - GTPBP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7765C>T r.(=) p.(=) Unknown - benign g.43581586G>A - POLH(NM_006502.2):c.1434G>A (p.(=)) - GTPBP2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7839C>T r.(=) p.(=) Unknown - likely benign g.43581512G>A - POLH(NM_006502.3):c.1360G>A (p.(Val454Met)) - GTPBP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7926A>C r.(=) p.(=) Unknown - VUS g.43581425T>G - POLH(NM_006502.3):c.1273T>G (p.C425G) - GTPBP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7950_*7952del r.(=) p.(=) Unknown - likely benign g.43581405_43581407del g.43613668_43613670del POLH(NM_006502.2):c.1253_1255delCTC (p.P418del), POLH(NM_006502.3):c.1253_1255delCTC (p.P418del) - POLH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7950_*7952del r.(=) p.(=) Unknown - VUS g.43581405_43581407del g.43613668_43613670del POLH(NM_006502.2):c.1253_1255delCTC (p.P418del), POLH(NM_006502.3):c.1253_1255delCTC (p.P418del) - POLH_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11024G>A r.(=) p.(=) Unknown - VUS g.43578327C>T g.43610590C>T POLH(NM_006502.2):c.1111C>T (p.R371C), POLH(NM_006502.3):c.1111C>T (p.R371C) - GTPBP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*11024G>A r.(=) p.(=) Unknown - VUS g.43578327C>T - POLH(NM_006502.2):c.1111C>T (p.R371C), POLH(NM_006502.3):c.1111C>T (p.R371C) - GTPBP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16302C>T r.(=) p.(=) Unknown - VUS g.43573049G>A - POLH(NM_006502.2):c.1067G>A (p.(Arg356Gln)), POLH(NM_006502.3):c.1067G>A (p.R356Q) - GTPBP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16302C>T r.(=) p.(=) Unknown - VUS g.43573049G>A - POLH(NM_006502.2):c.1067G>A (p.(Arg356Gln)), POLH(NM_006502.3):c.1067G>A (p.R356Q) - GTPBP2_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*16988T>C r.(=) p.(=) Unknown - VUS g.43572363A>G g.43604626A>G POLH(NM_006502.2):c.896A>G (p.Y299C) - POLH_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*16994C>T r.(=) p.(=) Unknown - pathogenic g.43572357G>A g.43604620G>A POLH(NM_006502.2):c.890G>A (p.W297*), POLH(NM_006502.3):c.890G>A (p.W297*) - GTPBP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*16994C>T r.(=) p.(=) Unknown - pathogenic g.43572357G>A g.43604620G>A POLH(NM_006502.2):c.890G>A (p.W297*), POLH(NM_006502.3):c.890G>A (p.W297*) - GTPBP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17672A>G r.(=) p.(=) Unknown - likely benign g.43571679T>C - POLH(NM_006502.3):c.815T>C (p.I272T) - GTPBP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*17672A>G r.(=) p.(=) Unknown - likely benign g.43571679T>C - POLH(NM_006502.3):c.815T>C (p.I272T) - GTPBP2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*20530G>A r.(=) p.(=) Unknown - VUS g.43568821C>T g.43601084C>T POLH(NM_006502.3):c.757C>T (p.R253C) - POLH_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20549G>A r.(=) p.(=) Unknown - likely benign g.43568802C>T - POLH(NM_006502.3):c.738C>T (p.L246=) - GTPBP2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20636T>G r.(=) p.(=) Unknown - likely benign g.43568715A>C g.43600978A>C POLH(NM_006502.2):c.661-10A>C - GTPBP2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*23783C>A r.(=) p.(=) Unknown - benign g.43565568G>T g.43597831G>T POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V) - POLH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*23783C>A r.(=) p.(=) Unknown - benign g.43565568G>T g.43597831G>T POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V) - POLH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*23783C>A r.(=) p.(=) Unknown - benign g.43565568G>T g.43597831G>T POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V) - POLH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*23783C>A r.(=) p.(=) Unknown - likely benign g.43565568G>T - POLH(NM_006502.2):c.626G>T (p.G209V, p.(Gly209Val)), POLH(NM_006502.3):c.626G>T (p.G209V) - POLH_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*23827T>A r.(=) p.(=) Unknown - likely benign g.43565524A>T g.43597787A>T POLH(NM_006502.2):c.582A>T (p.A194=) - GTPBP2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*23933G>A r.(=) p.(=) Unknown - likely benign g.43565418C>T - POLH(NM_006502.3):c.491-15C>T - GTPBP2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*34168C>A r.(=) p.(=) Unknown - benign g.43555183G>T - POLH(NM_006502.2):c.447G>T (p.G149=) - GTPBP2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*34202G>A r.(=) p.(=) Unknown - VUS g.43555149C>T - POLH(NM_006502.3):c.413C>T (p.S138L) - GTPBP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*34283C>T r.(=) p.(=) Unknown - likely pathogenic g.43555068G>A g.43587331G>A POLH(NM_006502.3):c.332G>A (p.R111H) - GTPBP2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*34302G>A r.(=) p.(=) Unknown - VUS g.43555049C>T g.43587312C>T POLH(NM_006502.2):c.313C>T (p.R105C) - GTPBP2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*34319A>G r.(=) p.(=) Unknown - VUS g.43555032T>C - POLH(NM_006502.2):c.296T>C (p.V99A) - GTPBP2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*38469T>C r.(=) p.(=) Unknown - VUS g.43550882A>G g.43583145A>G POLH(NM_006502.2):c.272+4A>G - GTPBP2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*39169C>G r.(=) p.(=) Unknown - VUS g.43550182G>C g.43582445G>C POLH(NM_006502.3):c.126G>C (p.W42C) - POLH_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*39299C>T r.(=) p.(=) Unknown - pathogenic g.43550052G>A g.43582315G>A POLH(NM_006502.3):c.-4-1G>A - GTPBP2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*49049G>A r.(=) p.(=) Unknown - benign g.43540302C>T - XPO5(NM_020750.3):c.241G>A (p.G81S) - GTPBP2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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