Full data view for gene SPATA25

Information The variants shown are described using the NM_080608.3 transcript reference sequence.

37 entries on 1 page. Showing entries 1 - 37.
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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.-5228C>A r.(?) p.(=) Unknown - VUS g.44521457G>T - CTSA(NM_000308.2):c.592G>T (p.(Ala198Ser)) - CTSA_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5215G>A r.(?) p.(=) Unknown - likely benign g.44521444C>T - CTSA(NM_000308.2):c.579C>T (p.(=)) - CTSA_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4908G>A r.(?) p.(=) Unknown - likely benign g.44521137C>T g.45892498C>T CTSA(NM_000308.2):c.498+14C>T (p.(=)) - CTSA_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4663C>T r.(?) p.(=) Unknown - VUS g.44520892G>A g.45892253G>A CTSA(NM_000308.2):c.361-20G>A (p.(=)) - CTSA_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4384C>T r.(?) p.(=) Unknown - likely pathogenic g.44520613G>A g.45891974G>A CTSA(NM_001127695.3):c.253G>A (p.G85S) - CTSA_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4350G>C r.(?) p.(=) Unknown - benign g.44520579C>G - CTSA(NM_001127695.2):c.219C>G (p.P73=) - CTSA_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4318G>A r.(?) p.(=) Unknown - likely benign g.44520547C>T - CTSA(NM_001127695.2):c.195-8C>T - CTSA_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4146G>A r.(?) p.(=) Unknown - VUS g.44520375C>T - CTSA(NM_000308.4):c.168C>T (p.(Gly56=)) - CTSA_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4130G>T r.(?) p.(=) Unknown - likely pathogenic g.44520359C>A - - - CTSA_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4126A>C r.(?) p.(=) Unknown - VUS g.44520355T>G - CTSA(NM_000308.2):c.202T>G (p.(Tyr68Asp)) - CTSA_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4083G>A r.(?) p.(=) Unknown - likely benign g.44520312C>T - CTSA(NM_000308.2):c.159C>T (p.(Ile53=)) - CTSA_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4063C>A r.(?) p.(=) Unknown - VUS g.44520292G>T - CTSA(NM_001127695.3):c.85G>T (p.A29S) - CTSA_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4032del r.(?) p.(=) Unknown - VUS g.44520261del - CTSA(NM_000308.2):c.108delG (p.(Leu37fs)) - CTSA_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4032_-4031del r.(?) p.(=) Unknown - likely benign g.44520260_44520261del g.45891621_45891622del CTSA(NM_000308.2):c.107_108del (p.(Leu36Profs*121)) - CTSA_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4030_-4029del r.(?) p.(=) Unknown - benign g.44520258_44520259del - CTSA(NM_000308.2):c.105_106delGC (p.(Leu36fs)) - CTSA_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4029del r.(?) p.(=) Unknown - VUS g.44520258del g.45891619del CTSA(NM_000308.2):c.105delG (p.(Leu36Cysfs*2)), CTSA(NM_001127695.2):c.51delG (p.L18Cfs*2), CTSA(NM_001127695.3):c.51delG (p.L18Cfs*2) - CTSA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4029del r.(?) p.(=) Unknown - likely benign g.44520258del g.45891619del CTSA(NM_000308.2):c.105delG (p.(Leu36Cysfs*2)), CTSA(NM_001127695.2):c.51delG (p.L18Cfs*2), CTSA(NM_001127695.3):c.51delG (p.L18Cfs*2) - CTSA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4029del r.(?) p.(=) Unknown - benign g.44520258del g.45891619del CTSA(NM_000308.2):c.105delG (p.(Leu36Cysfs*2)), CTSA(NM_001127695.2):c.51delG (p.L18Cfs*2), CTSA(NM_001127695.3):c.51delG (p.L18Cfs*2) - CTSA_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4020_-4009del r.(?) p.(=) Unknown - VUS g.44520252_44520263del - CTSA(NM_000308.4):c.45_56del (p.(Leu16_Leu19del)) - CTSA_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4014_-4009dup r.(?) p.(=) Unknown - VUS g.44520258_44520263dup g.45891619_45891624dup CTSA(NM_001127695.2):c.51_56dupGCTGCT (p.L18_L19dup) - CTSA_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4011_-4009del r.(?) p.(=) Unknown - benign g.44520261_44520263del g.45891622_45891624del CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del), CTSA(NM_001127695.3):c.54_56delGCT (p.L19del) - CTSA_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4011_-4009del r.(?) p.(=) Unknown - benign g.44520261_44520263del g.45891622_45891624del CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del), CTSA(NM_001127695.3):c.54_56delGCT (p.L19del) - CTSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4011_-4009del r.(?) p.(=) Unknown - likely benign g.44520261_44520263del g.45891622_45891624del CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del), CTSA(NM_001127695.3):c.54_56delGCT (p.L19del) - CTSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4011_-4009del r.(?) p.(=) Unknown - benign g.44520261_44520263del - CTSA(NM_000308.2):c.85_87del (p.(Leu37del)), CTSA(NM_001127695.2):c.54_56delGCT (p.L19del), CTSA(NM_001127695.3):c.54_56delGCT (p.L19del) - CTSA_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4011_-4009dup r.(?) p.(=) Unknown - likely benign g.44520261_44520263dup g.45891622_45891624dup CTSA(NM_000308.2):c.108_110dup (p.(Leu37dup)), CTSA(NM_001127695.2):c.54_56dupGCT (p.L19dup), CTSA(NM_001127695.3):c.54_56dupGCT (p.L19dup) - CTSA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4011_-4009dup r.(?) p.(=) Unknown - likely benign g.44520261_44520263dup g.45891622_45891624dup CTSA(NM_000308.2):c.108_110dup (p.(Leu37dup)), CTSA(NM_001127695.2):c.54_56dupGCT (p.L19dup), CTSA(NM_001127695.3):c.54_56dupGCT (p.L19dup) - CTSA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4011_-4009dup r.(?) p.(=) Unknown - likely benign g.44520261_44520263dup g.45891622_45891624dup CTSA(NM_000308.2):c.108_110dup (p.(Leu37dup)), CTSA(NM_001127695.2):c.54_56dupGCT (p.L19dup), CTSA(NM_001127695.3):c.54_56dupGCT (p.L19dup) - CTSA_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4003G>A r.(?) p.(=) Unknown - likely benign g.44520232C>T g.45891593C>T CTSA(NM_001127695.2):c.25C>T (p.L9=) - CTSA_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3693C>A r.(?) p.(=) Unknown - likely benign g.44519922G>T - CTSA(NM_000308.2):c.-43G>T (p.(=)) - CTSA_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3414C>T r.(?) p.(=) Unknown - benign g.44519643G>A g.45891004G>A CTSA(NM_001127695.3):c.-422G>A - CTSA_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3328G>A r.(?) p.(=) Unknown - VUS g.44519557C>T - NEURL2(NM_080749.3):c.74G>A (p.(Arg25His)) - CTSA_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3200G>T r.(?) p.(=) Unknown - VUS g.44519429C>A - NEURL2(NM_001278535.1):c.202G>T (p.(Val68Phe)) - CTSA_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2996dup r.(?) p.(=) Unknown - likely benign g.44519225dup g.45890586dup CTSA(NM_000308.2):c.-740dup (p.(=)), NEURL2(NM_001278535.1):c.406dupA (p.S136Kfs*15) - NEURL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2996dup r.(?) p.(=) Unknown - likely benign g.44519225dup g.45890586dup CTSA(NM_000308.2):c.-740dup (p.(=)), NEURL2(NM_001278535.1):c.406dupA (p.S136Kfs*15) - NEURL2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2771G>A r.(?) p.(=) Unknown - likely benign g.44519000C>T - NEURL2(NM_001278535.1):c.631G>A (p.(Glu211Lys)) - CTSA_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.505G>A r.(?) p.(Val169Ile) Unknown - likely benign g.44515335C>T g.45886696C>T SPATA25(NM_080608.3):c.505G>A (p.(Val169Ile)) - CTSA_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.518G>A r.(?) p.(Arg173Gln) Unknown - likely benign g.44515322C>T g.45886683C>T SPATA25(NM_080608.3):c.518G>A (p.(Arg173Gln)) - CTSA_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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