Unique variants in the CCDC22 gene

Information The variants shown are described using the NM_014008.3 transcript reference sequence.

84 entries on 1 page. Showing entries 1 - 84.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-?/. 1 - c.-5089T>C r.(?) p.(=) - likely benign g.49087008T>C - CACNA1F(NM_005183.3):c.585A>G (p.G195=) - CACNA1F_000181 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.-5086C>T r.(?) p.(=) - benign g.49087011C>T g.49230549C>T CACNA1F(NM_005183.3):c.582G>A (p.G194=) - CACNA1F_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.-5082del r.(?) p.(=) - pathogenic g.49087015del g.49230553del CACNA1F(NM_005183.3):c.579delC (p.G195Efs*8) - CACNA1F_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.-5050C>A r.(?) p.(=) - likely benign g.49087047C>A g.49230585C>A CACNA1F(NM_005183.3):c.546G>T (p.Q182H) - CACNA1F_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 2 - c.-5010C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-/. 1 - c.-4762G>C r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.-4657C>T r.(?) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.-3955C>G r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden
+?/. 1 - c.-3927C>T r.(?) p.(=) - likely pathogenic g.49088170C>T g.49231708C>T - - CACNA1F_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3902A>G r.(?) p.(=) - VUS g.49088195A>G - CACNA1F(NM_005183.3):c.220T>C (p.C74R) - CACNA1F_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 2 - c.-3891C>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.-3824G>T r.(?) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.-3805C>T r.(?) p.(=) - benign, 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.-3723G>A r.(?) p.(=) - benign g.49088374G>A g.49231912G>A - - CACNA1F_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.-3722G>T r.(?) p.(=) - 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 - - - - - VKGL-NL_AMC
?/. 1 1 c.49A>G r.(?) p.(Thr17Ala) - VUS g.49092145A>G g.49235685A>G - - CCDC22_000002 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline yes 1/208 - - - Lucy Raymond
?/. 2 - c.51-25T>C r.(=) p.(=) - VUS g.49093528T>C g.49237061= - - CCDC22_000006 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.84C>T r.(?) p.(Ala28=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.88A>G r.(?) p.(Thr30Ala) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.161G>C r.(?) p.(Ser54Thr) - 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 - - - - - VKGL-NL_Rotterdam
?/. 2 - c.361+17A>G r.(=) p.(=) - VUS g.49098631A>G g.49242165= - - CCDC22_000010 - - - - Germline - - - - - Yu Sun
?/. 1 - c.362-1G>C r.spl? p.? - VUS g.49099351G>C g.49242885G>C - - CCDC22_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., ?/. 2 - c.389T>C r.(?) p.(Ile130Thr) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.421C>A r.(?) p.(Pro141Thr) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.535+10A>G r.(=) p.(=) - likely benign g.49099660A>G - CCDC22(NM_014008.4):c.535+10A>G - CCDC22_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.536-7C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 2 - c.553G>A r.(?) p.(Ala185Thr) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.636G>T r.(?) p.(Leu212=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.659G>A r.(?) p.(Arg220Gln) - 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.715-95T>A r.(=) p.(=) - VUS g.49103097T>A g.49246636= - - CCDC22_000007 - - - - Germline - - - - - Yu Sun
-?/., ?/. 3 7 c.715G>A r.(?), r.(spl?) p.(Glu239Lys) - likely benign, VUS 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 found once, nonrecurrent change, VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - CLASSIFICATION record, Germline yes 1/208 - - - Lucy Raymond, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 7 c.747A>G r.(?) p.(=) - likely benign g.49103224A>G - 747G>A (Q249Q) - CCDC22_000004 1 more item PubMed: Tarpey 2009 - - Germline yes 179/208 - - - Lucy Raymond
?/. 2 - c.747G>A r.(?) p.(Gln249=) - VUS g.49103224G>A g.49246763= - - CCDC22_000009 - - - - Germline - - - - - Yu Sun
?/. 1 - c.808C>T r.(?) p.(Arg270Trp) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.962G>A r.(?) p.(Arg321Gln) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1036C>G r.(?) p.(Arg346Gly) - VUS g.49104173C>G - CCDC22(NM_014008.5):c.1036C>G (p.R346G) - CCDC22_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.1134G>C r.(?) p.(Glu378Asp) - likely benign, VUS g.49104693G>C g.49248232G>C CCDC22(NM_014008.4):c.1134G>C (p.E378D) - CCDC22_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1136G>A r.(?) p.(Arg379His) - 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 - - - - - VKGL-NL_Leiden
-/., -?/., ?/. 4 - c.1150C>T r.(?) p.(Arg384Cys) - benign, likely benign, VUS g.49104709C>T g.49248248C>T 1 more item - CCDC22_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Utrecht
?/. 1 - c.1162C>T r.(?) p.(Arg388Cys) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1163G>A r.(?) p.(Arg388His) - benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/., ?/. 3 11 c.1288G>A r.(?) p.(Ala430Thr) - benign, likely benign, VUS g.49104943G>A g.49248482G>A CCDC22(NM_014008.3):c.1288G>A (p.(Ala430Thr)) - CCDC22_000001 5 homozygous; Clinindb (India), found once, nonrecurrent change, 1 more item PubMed: Narang 2020, Journal: Narang 2020, PubMed: Tarpey 2009 - rs144632022 CLASSIFICATION record, Germline yes 1/208, 5/2795 individuals - - - Lucy Raymond, VKGL-NL_Leiden, Mohammed Faruq
?/. 1 - c.1333G>A r.(?) p.(Glu445Lys) - 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 - - - - - VKGL-NL_VUmc
?/. 1 - c.1343G>A r.(?) p.(Arg448Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1388C>G r.(?) p.(Ala463Gly) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1412A>G r.(?) p.(Glu471Gly) - 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 - - - - - VKGL-NL_Groningen
-?/. 1 - c.1432A>C r.(?) p.(Met478Leu) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1475C>G r.(?) p.(Ala492Gly) - VUS g.49105321C>G g.49248860C>G - - CCDC22_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1514G>A r.(?) p.(Arg505Gln) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1539+5A>G r.spl? p.? - likely benign g.49105390A>G - CCDC22(NM_014008.5):c.1539+5A>G - CCDC22_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1556A>G r.(?) p.(Lys519Arg) - 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 - - - - - VKGL-NL_Rotterdam
-/., ?/. 4 - c.1636G>A r.(?) p.(Asp546Asn) - benign, 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 conflicting interpretations of pathogenicity; 2 heterozygous; Clinindb (India), 2 more items PubMed: Narang 2020, Journal: Narang 2020 - rs147222955 CLASSIFICATION record, Germline - 2/2794 individuals, 4/2794 individuals - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, Mohammed Faruq
+?/. 1 15 c.1670A>G r.(?) p.(Tyr557Cys) - likely pathogenic g.49106004A>G g.49249543A>G - - CCDC22_000005 - - - - Germline yes - - - - Mateusz Kolanczyk
?/. 1 - c.1691A>C r.(?) p.(His564Pro) - VUS g.49106025A>C - - - CCDC22_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1771-74T>G r.(=) p.(=) - VUS g.49106535T>G g.49250074T>G - - CCDC22_000008 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1774G>A r.(?) p.(Glu592Lys) - VUS g.49106612G>A - CCDC22(NM_014008.5):c.1774G>A (p.E592K) - CCDC22_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.*1098C>T r.(=) p.(=) - pathogenic g.49107820C>T - FOXP3(NM_014009.3):c.1271G>A (p.C424Y) - CCDC22_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*1488G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*1498G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
?/. 1 - c.*5172G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Groningen
+?/. 1 - c.*5236_*5238del r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*5241A>G r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6590G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*6707C>T r.(=) p.(=) - likely benign g.49113429C>T - FOXP3(NM_014009.3):c.495G>A (p.P165=) - CCDC22_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*7175A>G r.(=) p.(=) - likely benign g.49113897A>G - FOXP3(NM_014009.3):c.441T>C (p.P147=) - CCDC22_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*7285C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.*7292C>T r.(=) p.(=) - likely benign g.49114014C>T - FOXP3(NM_014009.3):c.324G>A (p.T108=) - CCDC22_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 2 - c.*7293G>A r.(=) p.(=) - likely benign, 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 - - - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen
?/. 2 - c.*7461G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.*8072_*8074del r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*8086C>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.*8089C>A r.(=) p.(=) - VUS g.49114811C>A - FOXP3(NM_014009.3):c.152G>T (p.R51L) - CCDC22_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*8171G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-?/. 1 - c.*8173G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*19812G>A r.(=) p.(=) - likely benign g.49126534G>A - PPP1R3F(NM_033215.4):c.202G>A (p.A68T) - CCDC22_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*19854G>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*19893G>C r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*19927C>T r.(=) p.(=) - VUS g.49126649C>T - PPP1R3F(NM_033215.4):c.317C>T (p.P106L) - CCDC22_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*20074G>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*20079C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*20226G>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*20230G>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*20232G>A r.(=) p.(=) - 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 - - - - - VKGL-NL_Leiden
-?/. 1 - c.*20453C>T r.(=) p.(=) - 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 - - - - - VKGL-NL_Rotterdam
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