Full data view for gene ATXN7

Information The variants shown are described using the NM_000333.3 transcript reference sequence.

89 entries on 1 page. Showing entries 1 - 89.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

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.(-3_262]insN[102] Gln[44] r.(?) p.(Gln30_Gln39ins(34)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[102] g.(63912596_63912860)insN[102] - - ATXN7_000065 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[102] Gln[44] r.(?) p.(Gln30_Gln39ins(34)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[102] g.(63912596_63912860)insN[102] - - ATXN7_000065 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[102] Gln[44] r.(?) p.(Gln30_Gln39ins(34)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[102] g.(63912596_63912860)insN[102] - - ATXN7_000065 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[102] Gln[44] r.(?) p.(Gln30_Gln39ins(34)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[102] g.(63912596_63912860)insN[102] - - ATXN7_000065 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[105] Gln[45] r.(?) p.(Gln30_Gln39ins(35)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[105] g.(63912596_63912860)insN[105] - - ATXN7_000066 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[105] Gln[45] r.(?) p.(Gln30_Gln39ins(35)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[105] g.(63912596_63912860)insN[105] - - ATXN7_000066 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[105] Gln[45] r.(?) p.(Gln30_Gln39ins(35)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[105] g.(63912596_63912860)insN[105] - - ATXN7_000066 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[108] Gln[46] r.(?) p.(Gln30_Gln39ins(36)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[108] g.(63912596_63912860)insN[108] - - ATXN7_000068 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[111] Gln[47] r.(?) p.(Gln30_Gln39ins(37)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[111] g.(63912596_63912860)insN[111] - - ATXN7_000067 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[132] Gln[54] r.(?) p.(Gln30_Gln39ins(44)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[132] g.(63912596_63912860)insN[132] - - ATXN7_000069 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[135] Gln[55] r.(?) p.(Gln30_Gln39ins(45)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[135] g.(63912596_63912860)insN[135] - - ATXN7_000070 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[210] Gln[80] r.(?) p.(Gln30_Gln39ins(70)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[210] g.(63912596_63912860)insN[210] - - ATXN7_000071 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
-/. - c.(-3_262]insN[21] Gln[17] r.(?) p.(Gln30_Gln39ins(21)) Unknown - benign g.(63898272_63898536)insN[21] g.(63912596_63912860)insN[21] - - ATXN7_000061 - PubMed: David 1997 - - Germline - 1/58 control chromosomes - - - DNA PCR - - Healthy/Control control PubMed: David 1997 analysis 29 controls F;M - - France - - - - 1 Johan den Dunnen
-/. - c.(-3_262]insN[3] Gln[11] r.(?) p.(Gln30_Gln39ins(3)) Unknown - benign g.(63898272_63898536)insN[3] g.(63912596_63912860)insN[3] - - ATXN7_000058 - PubMed: David 1997 - - Germline - 4/58 control chromosomes - - - DNA PCR - - Healthy/Control control PubMed: David 1997 analysis 29 controls F;M - - France - - - - 4 Johan den Dunnen
-/. - c.(-3_262]insN[6] Gln[12] r.(?) p.(Gln30_Gln39ins(6)) Unknown - benign g.(63898272_63898536)insN[6] g.(63912596_63912860)insN[6] - - ATXN7_000059 - PubMed: David 1997 - - Germline - 4/58 control chromosomes - - - DNA PCR - - Healthy/Control control PubMed: David 1997 analysis 29 controls F;M - - France - - - - 4 Johan den Dunnen
+/. - c.(-3_262]insN[84] Gln[38] r.(?) p.(Gln30_Gln39ins(28)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[84] g.(63912596_63912860)insN[84] - - ATXN7_000062 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[93] Gln[41] r.(?) p.(Gln30_Gln39ins(31)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[93] g.(63912596_63912860)insN[93] - - ATXN7_000063 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[99] Gln[43] r.(?) p.(Gln30_Gln39ins(33)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[99] g.(63912596_63912860)insN[99] - - ATXN7_000064 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+/. - c.(-3_262]insN[99] Gln[43] r.(?) p.(Gln30_Gln39ins(33)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[99] g.(63912596_63912860)insN[99] - - ATXN7_000064 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
-/. - c.(-3_262]insN[9] Gln[13] r.(?) p.(Gln30_Gln39ins(9)) Unknown - benign g.(63898272_63898536)insN[9] g.(63912596_63912860)insN[9] - - ATXN7_000060 - PubMed: David 1997 - - Germline - 3/58 control chromosomes - - - DNA PCR - - Healthy/Control control PubMed: David 1997 analysis 29 controls F;M - - France - - - - 3 Johan den Dunnen
+/. - c.(-3_262]ins[(360_?)] Gln[(130_?)] r.(?) p.(Gln30_Gln39ins(120_?)) Parent #1 - pathogenic (dominant) g.(63898272_63898536)insN[(360_?)] g.(63912596_63912860)insN[(360_?)] - - ATXN7_000072 - PubMed: David 1997 - - Germline - - - - - DNA PCR - - SCA - PubMed: David 1997 SCA patient - - - France - - - - 1 Johan den Dunnen
+?/. - c.-11-13_284ins[?] - r.? p.? Unknown - likely pathogenic g.63898251_63898558insN[?] - expansion, chr3:63898251-63898558 - ATXN7_000078 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 929 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
-/. - c.-9G>A - r.(?) p.(=) Unknown - benign g.63898266G>A g.63912590G>A ATXN7(NM_000333.4):c.-9G>A - ATXN7_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.(-3_262)= Gln[10] r.(?) p.(=) Paternal (confirmed) - benign g.63898272_63898536= g.63912596_63912860= - - ATXN7_000000 - PubMed: Giunti 1999 - - Germline no - - - - DNA PCR - - SCA 10330346-FamVNPatiii2 PubMed: Giunti 1999 3-generation family, 1 affected ? - France - - - - - 1 Johan den Dunnen
-/. 3 c.(-3_262)= Gln[10] r.(?) p.(=) Paternal (confirmed) - benign g.63898272_63898536= g.63912596_63912860= - - ATXN7_000000 - PubMed: Giunti 1999 - - Germline no - - - - DNA PCR - - SCA 10330346-FamPTPatIII1 PubMed: Giunti 1999 3-generation family, affected mother/child - - France - - - - - 2 Johan den Dunnen
-/. - c.(-3_262)= Gln[10] r.(?) p.(=) Unknown - benign g.(63898272_63898536)= g.(63912596_63912860)= - - ATXN7_000000 - PubMed: David 1997 - - Germline - 45/58 control chromosomes - - - DNA PCR - - Healthy/Control control PubMed: David 1997 analysis 29 controls F;M - - France - - - - 45 Johan den Dunnen
-/. 3 c.(-3_262)del(9) Gln[7] r.(?) p.(Gln30_Gln39del(3)) Paternal (confirmed) - benign g.(63898272_63898536)del(9) - - - ATXN7_000002 - PubMed: Giunti 1999 - - Germline no - - - - DNA PCR - - SCA 10330346-FamWIPatII1 PubMed: Giunti 1999 2-generation family, 3 affecteds - - France - - - - - 3 Johan den Dunnen
-/. - c.(-3_262)del(9) Gln[7] r.(?) p.(Gln30_Gln39del(3)) Unknown - benign g.(63898272_63898536)del(9) g.(63912596_63912860)del(9) - - ATXN7_000002 - PubMed: David 1997 - - Germline - 1/58 control chromosomes - - - DNA PCR - - Healthy/Control control PubMed: David 1997 analysis 29 controls F;M - - France - - - - 1 Johan den Dunnen
+/. 3 c.(-3_262]insN[114] Gln[48] r.(?) p.(Gln30_Gln39ins(38)) Maternal (confirmed) - pathogenic (dominant) g.(63898272_63898536)insN[114] - - - ATXN7_000003 - PubMed: Giunti 1999 - - Germline yes - - - - DNA PCR - - SCA 10330346-FamWIPatII1 PubMed: Giunti 1999 2-generation family, 3 affecteds - - France - - - - - 3 Johan den Dunnen
+/. 3 c.(-3_262]insN[114] Gln[48] r.(?) p.(Gln30_Gln39ins(38)) Maternal (inferred) - pathogenic (dominant) g.(63898272_63898536)insN[114] - - - ATXN7_000003 - PubMed: Giunti 1999 - - De novo yes - - - - DNA PCR - - SCA 10330346-FamPTPatIII1 PubMed: Giunti 1999 3-generation family, affected mother/child - - France - - - - - 2 Johan den Dunnen
+/. 3 c.(-3_262]insN[141] Gln[57] r.(?) p.(Gln30_Gln39ins(47)) Maternal (inferred) - pathogenic (dominant) g.(63898272_63898536)insN[141] - - - ATXN7_000001 de novo expansion from 35 to 57 repeat units PubMed: Giunti 1999 - - De novo - - - - - DNA PCR - - SCA 10330346-FamVNPatiii2 PubMed: Giunti 1999 3-generation family, 1 affected ? - France - - - - - 1 Johan den Dunnen
+/. 3 c.(4_246]insN[99] Gln[43] r.(?) p.(Gln30_Gln39ins(33)) Paternal (confirmed) - pathogenic (dominant) g.(63898278_63898520)insN[99] g.(63912602_63912844)insN[99] - - ATXN7_000034 - PubMed: Del-Favero 1998 - - Germline yes - - - - DNA PCR - - SCA FamCA-1Pat33 PubMed: Del-Favero 1998 4-generation family, 20 affected (10F, 10M) F;M no Belgium - - - - - 20 Johan den Dunnen
-/. 3 c.(4_246)= Gln[10] r.(=) p.(=) Maternal (confirmed) - benign g.(63898278_63898520)= - - - ATXN7_000035 - PubMed: Del-Favero 1998 - - Germline no - - - - DNA PCR - - SCA FamCA-1Pat33 PubMed: Del-Favero 1998 4-generation family, 20 affected (10F, 10M) F;M no Belgium - - - - - 20 Johan den Dunnen
?/. - c.47C>G - r.(?) p.(Ala16Gly) Unknown - VUS g.63898321C>G - ATXN7(NM_000333.3):c.47C>G (p.A16G) - ATXN7_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86_91dup - r.(?) p.(Arg29_Gln30dup) Unknown - VUS g.63898360_63898365dup g.63912684_63912689dup ATXN7(NM_000333.3):c.84_85insCGGCAG (p.?) - ATXN7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.88_117CAG[70] Gln[70] r.(88_117cag[70]) p.(Gln30[70]) Unknown - pathogenic (dominant) g.63898362_63898391CAG[70] - - - ATXN7_000079 - Fadaie 2021, submitted - - Germline yes - - - - DNA SEQ-NG - - retinal disease ? Fadaie 2021, submitted - F - Netherlands - - - - - 1 Zeinab Fadaie
-/. - c.100_101insCCC - r.(?) p.(Gln33_Gln34insPro) Unknown - benign g.63898374_63898375insCCC g.63912698_63912699insCCC ATXN7(NM_000333.4):c.100_101insCCC (p.Q33_Q34insP) - ATXN7_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104A>C - r.(?) p.(Gln35Pro) Unknown - likely benign g.63898378A>C g.63912702A>C ATXN7(NM_000333.3):c.104A>C (p.Q35P), ATXN7(NM_000333.4):c.104A>C (p.Q35P) - ATXN7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.104A>C - r.(?) p.(Gln35Pro) Unknown - likely benign g.63898378A>C g.63912702A>C ATXN7(NM_000333.3):c.104A>C (p.Q35P), ATXN7(NM_000333.4):c.104A>C (p.Q35P) - ATXN7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104A>C - r.(?) p.(Gln35Pro) Unknown - VUS g.63898378A>C g.63912702A>C ATXN7(NM_000333.3):c.104A>C (p.Q35P), ATXN7(NM_000333.4):c.104A>C (p.Q35P) - ATXN7_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.107_118dup - r.(?) p.(Gln36_Gln39dup) Unknown - benign g.63898381_63898392dup g.63912705_63912716dup ATXN7(NM_000333.4):c.107_118dupAGCAGCAGCAGC (p.Q36_Q39dup) - ATXN7_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.110_118dup - r.(?) p.(Gln37_Gln39dup) Unknown - VUS g.63898384_63898392dup g.63912708_63912716dup ATXN7(NM_000333.3):c.86_87insGCAGCAGCA (p.(Arg29_Gln30insGlnGlnGln)), ATXN7(NM_000333.4):c.110_118dupAGCAGCAGC (p.Q37_Q39dup) - ATXN7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.110_118dup - r.(?) p.(Gln37_Gln39dup) Unknown - benign g.63898384_63898392dup g.63912708_63912716dup ATXN7(NM_000333.3):c.86_87insGCAGCAGCA (p.(Arg29_Gln30insGlnGlnGln)), ATXN7(NM_000333.4):c.110_118dupAGCAGCAGC (p.Q37_Q39dup) - ATXN7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.113_118dup - r.(?) p.(Gln38_Gln39dup) Unknown - VUS g.63898387_63898392dup g.63912711_63912716dup ATXN7(NM_000333.3):c.86_87insGCAGCA (p.(Arg29_Gln30insGlnGln)) - ATXN7_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.116_118del - r.(?) p.(Gln39del) Unknown - benign g.63898390_63898392del g.63912714_63912716del ATXN7(NM_000333.3):c.116_118delAGC (p.Q39del), ATXN7(NM_000333.4):c.116_118delAGC (p.Q39del) - ATXN7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.116_118del - r.(?) p.(Gln39del) Unknown - benign g.63898390_63898392del - ATXN7(NM_000333.3):c.116_118delAGC (p.Q39del), ATXN7(NM_000333.4):c.116_118delAGC (p.Q39del) - ATXN7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.116_118dup - r.(?) p.(Gln39dup) Unknown - benign g.63898390_63898392dup g.63912714_63912716dup ATXN7(NM_000333.4):c.116_118dupAGC (p.Q39dup) - ATXN7_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.118_119insAGCAGCCGC - r.(?) p.(Gln39_Pro40insGlnGlnPro) Unknown - likely benign g.63898392_63898393insAGCAGCCGC g.63912716_63912717insAGCAGCCGC ATXN7(NM_000333.4):c.118_119insAGCAGCCGC (p.Q39_P40insQQP) - ATXN7_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.123_125dup - r.(?) p.(Pro43dup) Unknown - benign g.63898397_63898399dup g.63912721_63912723dup ATXN7(NM_000333.4):c.123_125dupGCC (p.P43dup) - ATXN7_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125_130dup - r.(?) p.(Pro42_Pro43dup) Unknown - VUS g.63898399_63898404dup g.63912723_63912728dup ATXN7(NM_000333.3):c.120_121insCCGCCT (p.(Pro40_Pro41insProPro)) - ATXN7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.223A>G - r.(?) p.(Met75Val) Unknown - benign g.63898497A>G - ATXN7(NM_000333.4):c.223A>G (p.M75V) - ATXN7_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.273G>C - r.(?) p.(Leu91=) Unknown - benign g.63898547G>C g.63912871G>C ATXN7(NM_000333.3):c.273G>C (p.L91=), ATXN7(NM_000333.4):c.273G>C (p.L91=) - ATXN7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.273G>C - r.(?) p.(Leu91=) Unknown - likely benign g.63898547G>C g.63912871G>C ATXN7(NM_000333.3):c.273G>C (p.L91=), ATXN7(NM_000333.4):c.273G>C (p.L91=) - ATXN7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.500-11971C>T - r.(=) p.(=) Unknown - benign g.63953620C>T g.63967944C>T ATXN7(NM_001128149.3):c.33C>T (p.S11=) - ATXN7_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.752+24T>C - r.(=) p.(=) Unknown - benign g.63965867T>C g.63980191T>C ATXN7(NM_000333.3):c.752+24T>C - ATXN7_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.753-17A>G - r.(=) p.(=) Unknown - benign g.63967845A>G g.63982169A>G ATXN7(NM_000333.4):c.753-17A>G - ATXN7_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.786T>C - r.(?) p.(His262=) Unknown - benign g.63967895T>C g.63982219T>C ATXN7(NM_000333.4):c.786T>C (p.H262=) - ATXN7_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.916A>T - r.(?) p.(Ile306Phe) Unknown - benign g.63968025A>T g.63982349A>T ATXN7(NM_000333.3):c.916A>T (p.I306F, p.(Ile306Phe)) - ATXN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916A>T - r.(?) p.(Ile306Phe) Unknown - VUS g.63968025A>T g.63982349A>T ATXN7(NM_000333.3):c.916A>T (p.I306F, p.(Ile306Phe)) - ATXN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.916A>T - r.(?) p.(Ile306Phe) Unknown - VUS g.63968025A>T - ATXN7(NM_000333.3):c.916A>T (p.I306F, p.(Ile306Phe)) - ATXN7_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.945G>A - r.(?) p.(Pro315=) Unknown - benign g.63968054G>A g.63982378G>A ATXN7(NM_000333.4):c.945G>A (p.P315=) - ATXN7_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.974A>G - r.(?) p.(Asn325Ser) Unknown - benign g.63968083A>G g.63982407A>G ATXN7(NM_000333.3):c.974A>G (p.N325S) - ATXN7_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.978C>T - r.(?) p.(Ser326=) Unknown - benign g.63968087C>T g.63982411C>T ATXN7(NM_000333.4):c.978C>T (p.S326=) - ATXN7_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.980A>G - r.(?) p.(Asn327Ser) Unknown - benign g.63968089A>G g.63982413A>G ATXN7(NM_000333.4):c.980A>G (p.N327S) - ATXN7_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1012+13T>A - r.(=) p.(=) Unknown - benign g.63968134T>A g.63982458T>A ATXN7(NM_000333.3):c.1012+13T>A, ATXN7(NM_000333.4):c.1012+13T>A - ATXN7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1012+13T>A - r.(=) p.(=) Unknown - likely benign g.63968134T>A g.63982458T>A ATXN7(NM_000333.3):c.1012+13T>A, ATXN7(NM_000333.4):c.1012+13T>A - ATXN7_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1150G>T - r.(?) p.(Val384Leu) Unknown - VUS g.63973789G>T g.63988113G>T ATXN7(NM_000333.3):c.1150G>T (p.V384L) - ATXN7_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1241C>T - r.(?) p.(Pro414Leu) Unknown - VUS g.63973880C>T g.63988204C>T C1241T - ATXN7_000080 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#011 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.1291G>A - r.(?) p.(Gly431Arg) Unknown - VUS g.63973930G>A g.63988254G>A ATXN7(NM_000333.3):c.1291G>A (p.G431R) - ATXN7_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1297_1302del - r.(?) p.(Ile433_Pro434del) Unknown - likely benign g.63973936_63973941del g.63988260_63988265del ATXN7(NM_000333.4):c.1297_1302delATTCCT (p.I433_P434del) - ATXN7_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1362-10A>C - r.(=) p.(=) Unknown - likely benign g.63975842A>C g.63990166A>C ATXN7(NM_000333.4):c.1362-10A>C - ATXN7_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613C>G - r.(?) p.(Ser538Cys) Unknown - VUS g.63976466C>G g.63990790C>G ATXN7(NM_000333.3):c.1613C>G (p.S538C), ATXN7(NM_000333.4):c.1613C>G (p.S538C) - ATXN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1613C>G - r.(?) p.(Ser538Cys) Unknown - VUS g.63976466C>G g.63990790C>G ATXN7(NM_000333.3):c.1613C>G (p.S538C), ATXN7(NM_000333.4):c.1613C>G (p.S538C) - ATXN7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1727G>A - r.(?) p.(Arg576His) Unknown - likely benign g.63981225G>A g.63995549G>A ATXN7(NM_000333.3):c.1727G>A (p.R576H) - ATXN7_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2157C>T - r.(?) p.(Ser719=) Unknown - likely benign g.63981655C>T - ATXN7(NM_000333.3):c.2157C>T (p.S719=) - ATXN7_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2159C>G - r.(?) p.(Ser720Cys) Unknown - likely benign g.63981657C>G g.63995981C>G ATXN7(NM_000333.4):c.2159C>G (p.S720C) - ATXN7_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2170T>A - r.(?) p.(Ser724Thr) Unknown - likely benign g.63981668T>A g.63995992T>A ATXN7(NM_000333.3):c.2170T>A (p.S724T), ATXN7(NM_000333.4):c.2170T>A (p.S724T) - ATXN7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2170T>A - r.(?) p.(Ser724Thr) Unknown - likely benign g.63981668T>A g.63995992T>A ATXN7(NM_000333.3):c.2170T>A (p.S724T), ATXN7(NM_000333.4):c.2170T>A (p.S724T) - ATXN7_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2178T>C - r.(?) p.(Ser726=) Unknown - benign g.63981676T>C g.63996000T>C ATXN7(NM_000333.3):c.2178T>C (p.S726=) - ATXN7_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2301G>A - r.(?) p.(Ala767=) Unknown - benign g.63981799G>A g.63996123G>A ATXN7(NM_000333.4):c.2301G>A (p.A767=) - ATXN7_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2307C>T - r.(?) p.(Asn769=) Unknown - benign g.63981805C>T g.63996129C>T ATXN7(NM_000333.4):c.2307C>T (p.N769=) - ATXN7_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2310C>T - r.(?) p.(Val770=) Unknown - benign g.63981808C>T g.63996132C>T ATXN7(NM_000333.4):c.2310C>T (p.V770=) - ATXN7_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479A>G - r.(?) p.(Thr827Ala) Unknown - likely benign g.63981977A>G g.63996301A>G ATXN7(NM_000333.3):c.2479A>G (p.T827A), ATXN7(NM_000333.4):c.2479A>G (p.T827A) - ATXN7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2479A>G - r.(?) p.(Thr827Ala) Unknown - likely benign g.63981977A>G g.63996301A>G ATXN7(NM_000333.3):c.2479A>G (p.T827A), ATXN7(NM_000333.4):c.2479A>G (p.T827A) - ATXN7_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2543A>G - r.(?) p.(Asn848Ser) Unknown - benign g.63982041A>G g.63996365A>G ATXN7(NM_000333.4):c.2543A>G (p.N848S) - ATXN7_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2661+1231dup - r.(=) p.(=) Unknown - benign g.63983390dup g.63997714dup ATXN7(NM_000333.4):c.2661+1231dupT - ATXN7_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*14C>A - r.(=) p.(=) Unknown - likely benign g.63985157C>A g.63999481C>A ATXN7(NM_001177387.1):c.2760C>A (p.S920R) - ATXN7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*14C>A - r.(=) p.(=) Unknown - likely benign g.63985157C>A g.63999481C>A ATXN7(NM_001177387.1):c.2760C>A (p.S920R) - ATXN7_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*81C>G - r.(?) p.(=) Unknown - VUS g.63985224C>G g.63999548C>G NM_001177387.1:c.2827C>G (Arg943Gly) - ATXN7_000057 - PubMed: Rafehi 2019 - - Unknown - - - - - DNA PCR, SEQ, Southern - WES ataxia CANVAS11 PubMed: Rafehi 2019 - M - United Kingdom (Great Britain) Anglo-Saxon - - - - 1 Johan den Dunnen
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