Full data view for gene C12orf57

Information The variants shown are described using the NM_138425.2 transcript reference sequence.

65 entries on 1 page. Showing entries 1 - 65.
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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.-6097_-6080del r.(?) p.(=) Unknown - VUS g.7047188_7047205del - ATN1(NM_001007026.2):c.2475_2492delAGAGCGCGAGCGCGAGAA (p.R829_E834del) - C12orf57_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6097_-6080dup r.(?) p.(=) Unknown - benign g.7047188_7047205dup g.6938025_6938042dup ATN1(NM_001007026.2):c.2475_2492dupAGAGCGCGAGCGCGAGAA (p.R829_E834dup) - C12orf57_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6086_-6069dup r.(?) p.(=) Unknown - VUS g.7047199_7047216dup - ATN1(NM_001940.4):c.2486_2503dupGCGAGAAGGAGCGCGAGC (p.R829_E834dup) - C12orf57_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5607G>A r.(?) p.(=) Unknown - VUS g.7047678G>A - ATN1(NM_001940.4):c.2552G>A (p.C851Y) - C12orf57_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5374G>A r.(?) p.(=) Unknown - likely benign g.7047911G>A g.6938748G>A ATN1(NM_001007026.1):c.2785G>A (p.A929T), ATN1(NM_001007026.2):c.2785G>A (p.A929T) - C12orf57_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5374G>A r.(?) p.(=) Unknown - likely benign g.7047911G>A - ATN1(NM_001007026.1):c.2785G>A (p.A929T), ATN1(NM_001007026.2):c.2785G>A (p.A929T) - C12orf57_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5336C>G r.(?) p.(=) Unknown - likely benign g.7047949C>G g.6938786C>G ATN1(NM_001007026.1):c.2823C>G (p.D941E) - C12orf57_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4993C>T r.(?) p.(=) Unknown - likely pathogenic g.7048292C>T - - - C12orf57_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3138C>T r.(?) p.(=) Unknown - VUS g.7050147C>T - ATN1(NM_001007026.2):c.3319C>T (p.P1107S) - C12orf57_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2742C>G r.(?) p.(=) Unknown - VUS g.7050543C>G - ATN1(NM_001007026.2):c.3365C>G (p.P1122R), ATN1(NM_001940.4):c.3365C>G (p.(Pro1122Arg)) - C12orf57_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2742C>G r.(?) p.(=) Unknown - VUS g.7050543C>G - ATN1(NM_001007026.2):c.3365C>G (p.P1122R), ATN1(NM_001940.4):c.3365C>G (p.(Pro1122Arg)) - C12orf57_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2675C>T r.(?) p.(=) Unknown - likely benign g.7050610C>T - ATN1(NM_001940.4):c.3432C>T (p.H1144=) - C12orf57_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2665G>A r.(?) p.(=) Unknown - likely benign g.7050620G>A - ATN1(NM_001940.3):c.3442G>A (p.(Ala1148Thr)) - C12orf57_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2603_-2602del r.(?) p.(=) Unknown - VUS g.7050682_7050683del g.6941519_6941520del ATN1(NM_001007026.2):c.3504_3505delCA (p.H1168Qfs*138) - C12orf57_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-312A>G r.(?) p.(=) Unknown - likely benign g.7052973A>G - RNU7-1(NR_023317.1):n.-6A>G - C12orf57_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-311C>T r.(?) p.(=) Unknown - benign g.7052974C>T - RNU7-1(NR_023317.1):n.-5C>T - C12orf57_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-307G>A r.(?) p.(=) Unknown - benign g.7052978G>A - RNU7-1(NR_023317.1):n.-1G>A - C12orf57_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-306C>T r.(?) p.(=) Unknown - VUS g.7052979C>T - RNU7-1(NR_023317.1):n.1C>T - C12orf57_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-287G>A r.(?) p.(=) Unknown - VUS g.7052998G>A - RNU7-1(NR_023317.1):n.20G>A - C12orf57_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-271C>T r.(?) p.(=) Unknown - benign g.7053014C>T - RNU7-1(NR_023317.1):n.36C>T - C12orf57_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-267C>T r.(?) p.(=) Unknown - VUS g.7053018C>T - RNU7-1(NR_023317.1):n.40C>T - C12orf57_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-263C>T r.(?) p.(=) Unknown - benign g.7053022C>T - RNU7-1(NR_023317.1):n.44C>T - C12orf57_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-259T>C r.(?) p.(=) Unknown - likely benign g.7053026T>C - RNU7-1(NR_023317.1):n.48T>C - C12orf57_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-258T>C r.(?) p.(=) Unknown - likely benign g.7053027T>C - RNU7-1(NR_023317.1):n.49T>C - C12orf57_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-256C>T r.(?) p.(=) Unknown - likely benign g.7053029C>T - RNU7-1(NR_023317.1):n.51C>T - C12orf57_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-255C>T r.(?) p.(=) Unknown - likely benign g.7053030C>T - RNU7-1(NR_023317.1):n.52C>T - C12orf57_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-254G>A r.(?) p.(=) Unknown - VUS g.7053031G>A - RNU7-1(NR_023317.1):n.53G>A - C12orf57_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-253G>T r.(?) p.(=) Unknown - VUS g.7053032G>T - C12orf57(NR_126035.1):n.53G>T, RNU7-1(NR_023317.1):n.54G>T - C12orf57_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-253G>T r.(?) p.(=) Unknown - likely benign g.7053032G>T - C12orf57(NR_126035.1):n.53G>T, RNU7-1(NR_023317.1):n.54G>T - C12orf57_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-247C>T r.(?) p.(=) Unknown - likely benign g.7053038C>T - RNU7-1(NR_023317.1):n.60C>T - C12orf57_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-243C>T r.(?) p.(=) Unknown - VUS g.7053042C>T - RNU7-1(NR_023317.1):n.*1C>T - C12orf57_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-241T>C r.(?) p.(=) Unknown - likely benign g.7053044T>C - RNU7-1(NR_023317.1):n.*3T>C - C12orf57_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-235G>A r.(?) p.(=) Unknown - likely benign g.7053050G>A - RNU7-1(NR_023317.1):n.*9G>A - C12orf57_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-228G>A r.(?) p.(=) Unknown - likely benign g.7053057G>A - RNU7-1(NR_023317.1):n.*16G>A - C12orf57_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-227C>T r.(?) p.(=) Unknown - benign g.7053058C>T - RNU7-1(NR_023317.1):n.*17C>T - C12orf57_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-226C>T r.(?) p.(=) Unknown - likely benign g.7053059C>T - RNU7-1(NR_023317.1):n.*18C>T - C12orf57_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-224A>G r.(?) p.(=) Unknown - VUS g.7053061A>G - RNU7-1(NR_023317.1):n.*20A>G - C12orf57_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-73C>T r.(?) p.(=) Unknown - VUS g.7053212C>T - C12orf57(NM_138425.4):c.-73C>T - C12orf57_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-19C>T r.(?) p.(=) Unknown - VUS g.7053266C>T - C12orf57(NM_138425.4):c.-19C>T - C12orf57_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14G>C r.(?) p.(=) Unknown - VUS g.7053271G>C - C12orf57(NM_001301834.1):c.-14G>C - C12orf57_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG pathogenic g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - TEMTYS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG pathogenic g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - TEMTYS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG pathogenic g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - TEMTYS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG pathogenic g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - TEMTYS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG pathogenic g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - TEMTYS - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.7053285A>G g.6944122A>G C12orf57(NM_138425.3):c.1A>G (p.M1?) - C12orf57_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Unknown - pathogenic g.7053285A>G - C12orf57(NM_138425.3):c.1A>G (p.M1?) - C12orf57_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F8‐M PubMed: Patel 2017 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F9‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F10‐M PubMed: Patel 2017 patient - - Saudi Arabia - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) - pathogenic (recessive) g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F11‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.(Met1?) Parent #2 - pathogenic (recessive) g.7053285A>G g.6944122A>G - - C12orf57_000001 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F12‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.1A>G r.(?) p.(Met1?) Both (homozygous) ACMG likely pathogenic g.7053285A>G g.6944122A>G - - C12orf57_000001 ACMG PS1, PM2, PP1, PP3 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 10DG0821 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. 1 c.19C>T r.(?) p.(Gln7Ter) Both (homozygous) - likely pathogenic g.7053303C>T g.6944140C>T - - C12orf57_000020 - PubMed: Ganapathy 2019 - rs782502903 Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-2832 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.33G>C r.(?) p.(Leu11Phe) Unknown - VUS g.7053317G>C g.6944154G>C C12orf57(NM_138425.2):c.33G>C (p.(Leu11Phe)), C12orf57(NM_138425.4):c.33G>C (p.L11F) - C12orf57_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.33G>C r.(?) p.(Leu11Phe) Unknown - VUS g.7053317G>C g.6944154G>C C12orf57(NM_138425.2):c.33G>C (p.(Leu11Phe)), C12orf57(NM_138425.4):c.33G>C (p.L11F) - C12orf57_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.53-2A>G r.spl? p.? Unknown - pathogenic g.7053637A>G g.6944474A>G C12orf57(NM_001301838.2):c.-55A>G - C12orf57_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.86C>T r.(?) p.(Ala29Val) Unknown - likely benign g.7053672C>T - C12orf57(NM_138425.3):c.86C>T (p.A29V) - C12orf57_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.89C>G r.(?) p.(Pro30Arg) Unknown - VUS g.7053675C>G g.6944512C>G C12orf57(NM_138425.3):c.89C>G (p.P30R) - C12orf57_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99A>G r.(?) p.(Ala33=) Unknown - likely benign g.7053685A>G - C12orf57(NM_138425.3):c.99A>G (p.A33=) - C12orf57_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152T>A r.(?) p.(Leu51Gln) Parent #1 - pathogenic (recessive) g.7053738T>A g.6944575T>A - - C12orf57_000019 - PubMed: Patel 2017 - - Germline - - - - - DNA SEQ-NG - - MCOP F12‐M PubMed: Patel 2017 family - yes Saudi Arabia - - - - - 1 LOVD
-/. - c.229+25_229+43del r.(=) p.(=) Unknown - benign g.7053840_7053858del - C12orf57(NM_138425.4):c.229+25_229+43delTCAGACGCGGGAAGGCGGG - C12orf57_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.229+25_229+43dup r.(=) p.(=) Unknown - likely benign g.7053840_7053858dup - C12orf57(NM_001301838.1):c.124+22_124+40dupGGGTCAGACGCGGGAAGGC - C12orf57_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257A>G r.(?) p.(Lys86Arg) Unknown - VUS g.7054961A>G g.6945798A>G C12orf57(NM_138425.4):c.257A>G (p.(Lys86Arg)) - C12orf57_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.328A>G r.(?) p.(Met110Val) Unknown - VUS g.7055032A>G g.6945869A>G - - C12orf57_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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