Full data view for gene FOXP3

Information The variants shown are described using the NM_014009.3 transcript reference sequence.

105 entries on 2 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.-6075G>A r.(?) p.(=) Unknown - likely benign g.49127175C>T g.49270712C>T PPP1R3F(NM_033215.4):c.843C>T (p.Y281=) - PPP1R3F_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-5854C>T r.(?) p.(=) Unknown - VUS g.49126954G>A g.49270491G>A PPP1R3F(NM_001184745.1):c.-32+558G>A (p.(=)) - PPP1R3F_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.-5852C>A r.(?) p.(=) Unknown - VUS g.49126952G>T g.49270489G>T PPP1R3F(NM_033215.4):c.620G>T (p.G207V) - CCDC22_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5848C>A r.(?) p.(=) Unknown - VUS g.49126948G>T g.49270485G>T PPP1R3F(NM_033215.4):c.616G>T (p.A206S) - CCDC22_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5701G>A r.(?) p.(=) Unknown - likely benign g.49126801C>T g.49270338C>T PPP1R3F(NM_033215.4):c.469C>T (p.P157S) - CCDC22_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5696C>A r.(?) p.(=) Unknown - likely benign g.49126796G>T g.49270333G>T PPP1R3F(NM_033215.4):c.464G>T (p.W155L) - CCDC22_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5549G>A r.(?) p.(=) Unknown - VUS g.49126649C>T - PPP1R3F(NM_033215.4):c.317C>T (p.P106L) - CCDC22_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5515C>G r.(?) p.(=) Unknown - likely benign g.49126615G>C g.49270152G>C PPP1R3F(NM_033215.4):c.283G>C (p.E95Q) - CCDC22_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5476C>A r.(?) p.(=) Unknown - VUS g.49126576G>T g.49270113G>T PPP1R3F(NM_033215.4):c.244G>T (p.D82Y) - CCDC22_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5434C>T r.(?) p.(=) Unknown - likely benign g.49126534G>A - PPP1R3F(NM_033215.4):c.202G>A (p.A68T) - CCDC22_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-23+154_-23+156del r.(=) p.(=) Maternal (inferred) - VUS g.49120974_49120976del g.49264512_49264514del - - FOXP3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-23+154_-23+156del r.(=) p.(=) Maternal (inferred) - VUS g.49120974_49120976del g.49264512_49264514del - - FOXP3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-23+155_-23+157del r.(=) p.(=) Maternal (inferred) - VUS g.49120966_49120968del g.49264504_49264506del - - FOXP3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.-23+155_-23+157del r.(=) p.(=) Maternal (inferred) - VUS g.49120966_49120968del g.49264504_49264506del - - FOXP3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
./. - c.-23+2882C>T - - Unknown - VUS g.49118241G>A g.49261784G>A - - FOXP3_000014 for details see the Uveogene database 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. PubMed: Babaloo 2015 - rs3761548 Germline - 75/100 cases - 0 - DNA arraySNP Blood - Behcet - PubMed: Babaloo 2015 Iranian cohort F;M - Iran Iranian - 0 for details see the Uveogene database - 75 Peizeng Yang
./. - c.-23+2882C>T - - Unknown - VUS g.49118241G>A g.49261784G>A - - FOXP3_000014 for details see the Uveogene database 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. PubMed: Yang 2016 - rs3761548 Germline - 15/100 cases - 0 - DNA arraySNP Blood - Behcet - PubMed: Yang 2016 Iranian cohort F;M - Iran Iranian - 0 for details see the Uveogene database - 15 Peizeng Yang
?/. - c.-22-151_-22-150del r.(=) p.(=) Unknown - VUS g.49115164_49115165del g.49258707_49258708del - - FOXP3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.68C>T r.(?) p.(Ser23Leu) Unknown - likely benign g.49114895G>A g.49258438G>A FOXP3(NM_014009.3):c.68C>T (p.S23L) - CCDC22_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70C>T r.(?) p.(Pro24Ser) Unknown - likely benign g.49114893G>A g.49258436G>A FOXP3(NM_014009.3):c.70C>T (p.P24S) - CCDC22_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.70C>T r.(?) p.(Pro24Ser) Unknown - likely benign g.49114893G>A g.49258436G>A FOXP3(NM_014009.3):c.70C>T (p.P24S) - CCDC22_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.100G>A r.(?) p.(Asp34Asn) Parent #1 - VUS g.49114863C>T g.49258406C>T D34N - FOXP3_000013 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
?/. - c.152G>T r.(?) p.(Arg51Leu) Unknown - VUS g.49114811C>A - FOXP3(NM_014009.3):c.152G>T (p.R51L) - CCDC22_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.155G>T r.(?) p.(Gly52Val) Unknown - likely benign g.49114808C>A g.49258351C>A FOXP3(NM_001114377.1):c.155G>T (p.(Gly52Val)) - FOXP3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.171_173del r.(?) p.(Ser60del) Unknown - likely benign g.49114794_49114796del g.49258337_49258339del FOXP3(NM_014009.3):c.171_173delCTC (p.S60del) - CCDC22_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253C>T r.(?) p.(Arg85Trp) Unknown - VUS g.49114183G>A g.49257726G>A FOXP3(NM_014009.3):c.253C>T (p.R85W) - FOXP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.253C>T r.(?) p.(Arg85Trp) Unknown - VUS g.49114183G>A - FOXP3(NM_014009.3):c.253C>T (p.R85W) - FOXP3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.323C>T r.(?) p.(Thr108Met) Unknown - likely benign g.49114015G>A g.49257558G>A FOXP3(NM_001114377.1):c.218C>T (p.(Thr73Met)) - CCDC22_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.323C>T r.(?) p.(Thr108Met) Unknown - VUS g.49114015G>A g.49257558G>A FOXP3(NM_001114377.1):c.218C>T (p.(Thr73Met)) - CCDC22_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.324G>A r.(?) p.(Thr108=) Unknown - likely benign g.49114014C>T - FOXP3(NM_014009.3):c.324G>A (p.T108=) - CCDC22_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.331G>A r.(?) p.(Ala111Thr) Unknown - likely benign g.49114007C>T g.49257550C>T FOXP3(NM_001114377.1):c.226G>A (p.(Ala76Thr)) - CCDC22_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.441T>C r.(?) p.(Pro147=) Unknown - likely benign g.49113897A>G - FOXP3(NM_014009.3):c.441T>C (p.P147=) - CCDC22_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495G>A r.(?) p.(Pro165=) Unknown - likely benign g.49113429C>T - FOXP3(NM_014009.3):c.495G>A (p.P165=) - CCDC22_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543C>T r.(?) p.(Ser181=) Unknown - likely benign g.49113312G>A g.49256855G>A FOXP3(NM_014009.3):c.543C>T (p.S181=) - FOXP3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.543C>T r.(=) p.(=) Parent #1 - VUS g.49113312G>A g.49256855G>A S181S - FOXP3_000008 recurrent, found 8 times PubMed: Tarpey 2009 - - Germline - 8/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 8 Lucy Raymond
?/. - c.743T>C r.(?) p.(Leu248Pro) Unknown - VUS g.49111963A>G g.49255502A>G FOXP3(NM_014009.3):c.743T>C (p.L248P) - FOXP3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.748_750del r.(?) p.(Lys250del) Unknown - likely pathogenic g.49111958_49111960del g.49255497_49255499del FOXP3(NM_014009.3):c.748_750delAAG (p.K250del) - CCDC22_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.812C>T r.(?) p.(Ser271Phe) Unknown - VUS g.49111894G>A g.49255433G>A FOXP3(NM_014009.3):c.812C>T (p.S271F) - CCDC22_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1051C>T r.(?) p.(Leu351=) Unknown - likely benign g.49108220G>A g.49251759G>A FOXP3(NM_014009.3):c.1051C>T (p.L351=) - CCDC22_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1061C>T r.(?) p.(Pro354Leu) Unknown - VUS g.49108210G>A g.49251749G>A FOXP3(NM_014009.3):c.1061C>T (p.P354L) - CCDC22_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156C>T r.(?) p.(Arg386Cys) Both (homozygous) - VUS g.49107935G>A g.49251474G>A - - FOXP3_000015 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - ? - - - - 0 - - 1 IMGAG
?/. - c.1221C>T r.(=) p.(=) Parent #1 - VUS g.49107870G>A g.49251409G>A T407T - FOXP3_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. - c.1271G>A r.(?) p.(Cys424Tyr) Unknown - pathogenic g.49107820C>T - FOXP3(NM_014009.3):c.1271G>A (p.C424Y) - CCDC22_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1183C>T r.(=) p.(=) Unknown - VUS g.49106612G>A - CCDC22(NM_014008.5):c.1774G>A (p.E592K) - CCDC22_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1770T>G r.(=) p.(=) Unknown - VUS g.49106025A>C - - - CCDC22_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1825C>T r.(=) p.(=) Unknown - benign g.49105970G>A g.49249509G>A CCDC22(NM_014008.3):c.1636G>A (p.(Asp546Asn)), CCDC22(NM_014008.4):c.1636G>A (p.D546N) - CCDC22_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1825C>T r.(=) p.(=) Unknown - VUS g.49105970G>A g.49249509G>A CCDC22(NM_014008.3):c.1636G>A (p.(Asp546Asn)), CCDC22(NM_014008.4):c.1636G>A (p.D546N) - CCDC22_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2151T>C r.(=) p.(=) Unknown - likely benign g.49105644A>G g.49249183A>G CCDC22(NM_014008.4):c.1556A>G (p.K519R) - CCDC22_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2405T>C r.(=) p.(=) Unknown - likely benign g.49105390A>G - CCDC22(NM_014008.5):c.1539+5A>G - CCDC22_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2435C>T r.(=) p.(=) Unknown - VUS g.49105360G>A g.49248899G>A CCDC22(NM_014008.4):c.1514G>A (p.R505Q) - CCDC22_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2474G>C r.(=) p.(=) Unknown - VUS g.49105321C>G g.49248860C>G - - CCDC22_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2517T>G r.(=) p.(=) Unknown - likely benign g.49105278A>C g.49248817A>C CCDC22(NM_014008.4):c.1432A>C (p.M478L) - CCDC22_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2619T>C r.(=) p.(=) Unknown - likely benign g.49105176A>G g.49248715A>G CCDC22(NM_014008.5):c.1412A>G (p.E471G) - CCDC22_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2643G>C r.(=) p.(=) Unknown - likely benign g.49105152C>G g.49248691C>G CCDC22(NM_014008.4):c.1388C>G (p.A463G) - CCDC22_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2688C>T r.(=) p.(=) Unknown - VUS g.49105107G>A g.49248646G>A CCDC22(NM_014008.4):c.1343G>A (p.R448Q) - CCDC22_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2698C>T r.(=) p.(=) Unknown - VUS g.49105097G>A g.49248636G>A CCDC22(NM_014008.4):c.1333G>A (p.E445K) - CCDC22_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2852C>T r.(=) p.(=) Unknown - likely benign g.49104943G>A g.49248482G>A CCDC22(NM_014008.3):c.1288G>A (p.(Ala430Thr)) - CCDC22_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3073C>T r.(=) p.(=) Unknown - benign g.49104722G>A g.49248261G>A CCDC22(NM_014008.3):c.1163G>A (p.(Arg388His)), CCDC22(NM_014008.4):c.1163G>A (p.R388H) - CCDC22_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3073C>T r.(=) p.(=) Unknown - likely benign g.49104722G>A g.49248261G>A CCDC22(NM_014008.3):c.1163G>A (p.(Arg388His)), CCDC22(NM_014008.4):c.1163G>A (p.R388H) - CCDC22_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*3074G>A r.(=) p.(=) Unknown - VUS g.49104721C>T g.49248260C>T CCDC22(NM_014008.4):c.1162C>T (p.R388C) - CCDC22_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3086G>A r.(=) p.(=) Unknown - benign g.49104709C>T g.49248248C>T CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C) - CCDC22_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*3086G>A r.(=) p.(=) Unknown - VUS g.49104709C>T g.49248248C>T CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C) - CCDC22_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3086G>A r.(=) p.(=) Unknown - likely benign g.49104709C>T g.49248248C>T CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C) - CCDC22_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3086G>A r.(=) p.(=) Unknown - benign g.49104709C>T - CCDC22(NM_014008.3):c.1150C>T (p.(Arg384Cys)), CCDC22(NM_014008.4):c.1150C>T (p.R384C), CCDC22(NM_014008.5):c.1150C>T (p.R384C) - CCDC22_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3100C>T r.(=) p.(=) Unknown - VUS g.49104695G>A g.49248234G>A CCDC22(NM_014008.3):c.1136G>A (p.(Arg379His)) - CCDC22_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3102C>G r.(=) p.(=) Unknown - likely benign g.49104693G>C g.49248232G>C CCDC22(NM_014008.4):c.1134G>C (p.E378D) - CCDC22_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3102C>G r.(=) p.(=) Unknown - VUS g.49104693G>C - CCDC22(NM_014008.4):c.1134G>C (p.E378D) - CCDC22_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3622G>C r.(=) p.(=) Unknown - VUS g.49104173C>G - CCDC22(NM_014008.5):c.1036C>G (p.R346G) - CCDC22_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3786C>T r.(=) p.(=) Unknown - likely benign g.49104009G>A g.49247548G>A CCDC22(NM_014008.4):c.962G>A (p.R321Q) - CCDC22_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*4510G>A r.(=) p.(=) Unknown - VUS g.49103285C>T g.49246824C>T CCDC22(NM_014008.4):c.808C>T (p.R270W) - CCDC22_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*4603C>T r.(=) p.(=) Unknown - likely benign g.49103192G>A g.49246731G>A CCDC22(NM_014008.4):c.715G>A (p.E239K), CCDC22(NM_014008.5):c.715G>A (p.E239K) - CCDC22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*4603C>T r.(=) p.(=) Unknown - likely benign g.49103192G>A g.49246731G>A CCDC22(NM_014008.4):c.715G>A (p.E239K), CCDC22(NM_014008.5):c.715G>A (p.E239K) - CCDC22_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7922C>T r.(=) p.(=) Unknown - likely benign g.49099873G>A g.49243407G>A CCDC22(NM_014008.3):c.659G>A (p.(Arg220Gln)), CCDC22(NM_014008.4):c.659G>A (p.R220Q) - CCDC22_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*7922C>T r.(=) p.(=) Unknown - likely benign g.49099873G>A g.49243407G>A CCDC22(NM_014008.3):c.659G>A (p.(Arg220Gln)), CCDC22(NM_014008.4):c.659G>A (p.R220Q) - CCDC22_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7945C>A r.(=) p.(=) Unknown - likely benign g.49099850G>T g.49243384G>T CCDC22(NM_014008.4):c.636G>T (p.L212=) - CCDC22_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*8028C>T r.(=) p.(=) Unknown - likely benign g.49099767G>A g.49243301G>A CCDC22(NM_014008.3):c.553G>A (p.(Ala185Thr)), CCDC22(NM_014008.4):c.553G>A (p.A185T) - CCDC22_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8028C>T r.(=) p.(=) Unknown - likely benign g.49099767G>A - CCDC22(NM_014008.3):c.553G>A (p.(Ala185Thr)), CCDC22(NM_014008.4):c.553G>A (p.A185T) - CCDC22_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8052G>A r.(=) p.(=) Unknown - likely benign g.49099743C>T g.49243277C>T CCDC22(NM_014008.3):c.536-7C>T (p.(=)), CCDC22(NM_014008.4):c.536-7C>T - CCDC22_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8052G>A r.(=) p.(=) Unknown - likely benign g.49099743C>T - CCDC22(NM_014008.3):c.536-7C>T (p.(=)), CCDC22(NM_014008.4):c.536-7C>T - CCDC22_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8135T>C r.(=) p.(=) Unknown - likely benign g.49099660A>G - CCDC22(NM_014008.4):c.535+10A>G - CCDC22_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8384G>T r.(=) p.(=) Unknown - VUS g.49099411C>A g.49242945C>A CCDC22(NM_014008.4):c.421C>A (p.P141T) - CCDC22_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8416A>G r.(=) p.(=) Unknown - VUS g.49099379T>C g.49242913T>C CCDC22(NM_014008.3):c.389T>C (p.(Ile130Thr)), CCDC22(NM_014008.4):c.389T>C (p.I130T) - CCDC22_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*8416A>G r.(=) p.(=) Unknown - benign g.49099379T>C g.49242913T>C CCDC22(NM_014008.3):c.389T>C (p.(Ile130Thr)), CCDC22(NM_014008.4):c.389T>C (p.I130T) - CCDC22_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8444C>G r.(=) p.(=) Unknown - VUS g.49099351G>C g.49242885G>C - - CCDC22_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*14132C>G r.(=) p.(=) Unknown - likely benign g.49093663G>C g.49237196G>C CCDC22(NM_014008.4):c.161G>C (p.S54T) - CCDC22_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*14205T>C r.(=) p.(=) Unknown - VUS g.49093590A>G g.49237123A>G CCDC22(NM_014008.4):c.88A>G (p.T30A) - CACNA1F_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*14209G>A r.(=) p.(=) Unknown - likely benign g.49093586C>T g.49237119C>T CCDC22(NM_014008.4):c.84C>T (p.A28=) - CACNA1F_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19420C>A r.(=) p.(=) Unknown - VUS g.49088375G>T g.49231913G>T CACNA1F(NM_005183.3):c.40C>A (p.P14T) - CACNA1F_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*19421C>T r.(=) p.(=) Unknown - benign g.49088374G>A g.49231912G>A - - CACNA1F_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*19503G>A r.(=) p.(=) Unknown - likely benign g.49088292C>T g.49231830C>T CACNA1F(NM_005183.3):c.123G>A (p.G41=) - CACNA1F_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*19503G>A r.(=) p.(=) Unknown - benign g.49088292C>T g.49231830C>T CACNA1F(NM_005183.3):c.123G>A (p.G41=) - CACNA1F_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*19522C>A r.(=) p.(=) Unknown - likely benign g.49088273G>T g.49231811G>T CACNA1F(NM_005183.3):c.142C>A (p.P48T) - CACNA1F_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*19589G>A r.(=) p.(=) Unknown - VUS g.49088206C>T g.49231744C>T CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q) - CACNA1F_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*19589G>A r.(=) p.(=) Unknown - VUS g.49088206C>T - CACNA1F(NM_001256789.1):c.209G>A (p.(Arg70Gln)), CACNA1F(NM_005183.3):c.209G>A (p.R70Q) - CACNA1F_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19600T>C r.(=) p.(=) Unknown - VUS g.49088195A>G - CACNA1F(NM_005183.3):c.220T>C (p.C74R) - CACNA1F_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*19625G>A r.(=) p.(=) Unknown - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*19653G>C r.(=) p.(=) Unknown - VUS g.49088142C>G g.49231680C>G CACNA1F(NM_001256789.1):c.273G>C (p.(Trp91Cys)) - CACNA1F_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*20355G>A r.(=) p.(=) Unknown - benign g.49087440C>T g.49230978C>T CACNA1F(NM_005183.3):c.393G>A (p.E131=) - CACNA1F_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*20355G>A r.(=) p.(=) Unknown - likely benign g.49087440C>T g.49230978C>T CACNA1F(NM_005183.3):c.393G>A (p.E131=) - CACNA1F_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*20460C>G r.(=) p.(=) Unknown - benign g.49087335G>C g.49230873G>C CACNA1F(NM_005183.3):c.498C>G (p.L166=) - CACNA1F_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*20708G>A r.(=) p.(=) Unknown - likely pathogenic g.49087087C>T g.49230625C>T CACNA1F(NM_005183.3):c.522-16G>A - CACNA1F_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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