Full data view for gene HCFC1

Information The variants shown are described using the NM_005334.2 transcript reference sequence.

149 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.-373615_*503992dup r.0? p.0? Maternal (confirmed) - pathogenic g.152710806_153609906dup - MECP2 - MECP2_002820 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamAU29 PubMed: Hu 2016 family, 2 affected, 1 unaffected heterozygous carrier female M - - - - 0 - - 2 Johan den Dunnen
-?/. - c.126G>A r.(?) p.(Lys42=) Unknown - likely benign g.153236166C>T g.153970715C>T HCFC1(NM_005334.2):c.126G>A (p.K42=) - HCFC1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.218C>T r.(?) p.(Ala73Val) Maternal (confirmed) - pathogenic (recessive) g.153230153G>A g.153964702G>A - - HCFC1_000101 - PubMed: Redin 2014 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 229-gene ID panel ID APN-113 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 2 affected brothers, unaffected carrier mother M - France - - 0 - - 2 Johan den Dunnen
-?/. - c.297G>C r.(?) p.(Gly99=) Unknown - likely benign g.153230074C>G g.153964623C>G HCFC1(NM_005334.2):c.297G>C (p.G99=) - HCFC1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.366A>G r.(?) p.(Arg122=) Unknown - likely benign g.153229712T>C - HCFC1(NM_005334.2):c.366A>G (p.R122=) - HCFC1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.367C>T r.(?) p.(Leu123Phe) Unknown - VUS g.153229711G>A g.153964260G>A HCFC1(NM_005334.2):c.367C>T (p.L123F) - HCFC1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.420C>G r.(?) p.(His140Gln) Parent #1 - VUS g.153229658G>C g.153964207G>C T140T - HCFC1_000042 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators 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.439A>G r.(?) p.(Asn147Asp) Unknown - VUS g.153229639T>C g.153964188T>C HCFC1(NM_005334.2):c.439A>G (p.N147D) - HCFC1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.474T>C r.(?) p.(Asp158=) Unknown - likely benign g.153229604A>G g.153964153A>G HCFC1(NM_005334.2):c.474T>C (p.D158=) - HCFC1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.503+14C>G r.(=) p.(=) Unknown - likely benign g.153229561G>C - HCFC1(NM_005334.3):c.503+14C>G - HCFC1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648C>G r.(?) p.(Ser216=) Unknown - likely benign g.153228740G>C - HCFC1(NM_005334.2):c.648C>G (p.S216=) - HCFC1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.674G>A r.(?) p.(Ser225Asn) Maternal (confirmed) - pathogenic g.153228714C>T g.153963263C>T HCFC1 S225N - HCFC1_000043 - PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamD144 PubMed: Hu 2016 family, 4 affected, 2 unaffected heterozygous carrier females M - - - - 0 - - 4 Johan den Dunnen
-/. - c.713-13C>T r.(=) p.(=) Unknown - benign g.153227770G>A g.153962319G>A HCFC1(NM_005334.3):c.713-13C>T - HCFC1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.713-3C>T r.spl? p.? Unknown - likely benign g.153227760G>A g.153962309G>A HCFC1(NM_005334.2):c.713-3C>T, HCFC1(NM_005334.3):c.713-3C>T - HCFC1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.713-3C>T r.spl? p.? Unknown - likely benign g.153227760G>A g.153962309G>A HCFC1(NM_005334.2):c.713-3C>T, HCFC1(NM_005334.3):c.713-3C>T - HCFC1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.753G>T r.(?) p.(Ala251=) Unknown - likely benign g.153227717C>A g.153962266C>A HCFC1(NM_005334.2):c.753G>T (p.A251=) - HCFC1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1113A>G r.(?) p.(Gln371=) Unknown - likely benign g.153225584T>C g.153960133T>C HCFC1(NM_005334.3):c.1113A>G (p.Q371=) - HCFC1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1120C>T r.(?) p.(Arg374Cys) Unknown - VUS g.153225577G>A g.153960126G>A - - HCFC1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1162G>A r.(?) p.(Ala388Thr) Unknown - likely benign g.153225535C>T g.153960084C>T HCFC1(NM_005334.2):c.1162G>A (p.A388T) - HCFC1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1200T>C r.(?) p.(Tyr400=) Unknown - likely benign g.153225497A>G g.153960046A>G HCFC1(NM_005334.2):c.1200T>C (p.Y400=) - HCFC1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1233C>T r.(?) p.(Ser411=) Unknown - likely benign g.153225464G>A g.153960013G>A HCFC1(NM_005334.2):c.1233C>T (p.S411=) - HCFC1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1407C>T r.(?) p.(Gly469=) Unknown - likely benign g.153225290G>A g.153959839G>A HCFC1(NM_005334.3):c.1407C>T (p.G469=) - HCFC1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1472G>T r.(?) p.(Gly491Val) Unknown - VUS g.153224915C>A g.153959464C>A HCFC1(NM_005334.3):c.1472G>T (p.G491V) - HCFC1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1616G>A r.(?) p.(Ser539Asn) Unknown - VUS g.153224207C>T g.153958756C>T - - HCFC1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1885A>G r.(?) p.(Thr629Ala) Unknown - VUS g.153223619T>C g.153958168T>C HCFC1(NM_005334.2):c.1885A>G (p.T629A) - HCFC1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1980C>T r.(?) p.(Thr660=) Unknown - likely benign g.153223524G>A - HCFC1(NM_005334.2):c.1980C>T (p.T660=) - HCFC1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2033C>T r.(?) p.(Ser678Phe) Parent #1 - VUS g.153223333G>A g.153957882G>A S678L - HCFC1_000041 found once, nonrecurrent change; variant and/or predicted effect could not be not confirmed by curators 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.2036A>G r.(?) p.(Asn679Ser) Unknown - VUS g.153223330T>C g.153957879T>C - - HCFC1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2109G>A r.(?) p.(Thr703=) Unknown - likely benign g.153223257C>T g.153957806C>T HCFC1(NM_005334.2):c.2109G>A (p.T703=) - HCFC1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2283C>G r.(?) p.(Thr761=) Unknown - benign g.153222835G>C g.153957384G>C HCFC1(NM_005334.3):c.2283C>G (p.T761=) - HCFC1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2289C>T r.(?) p.(Pro763=) Unknown - likely benign g.153222829G>A g.153957378G>A HCFC1(NM_005334.2):c.2289C>T (p.P763=), HCFC1(NM_005334.3):c.2289C>T (p.P763=) - HCFC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2289C>T r.(?) p.(Pro763=) Unknown - likely benign g.153222829G>A - HCFC1(NM_005334.2):c.2289C>T (p.P763=), HCFC1(NM_005334.3):c.2289C>T (p.P763=) - HCFC1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2299A>G r.(?) p.(Thr767Ala) Parent #1 - VUS g.153222819T>C g.153957368T>C 2299G>A; A767T - HCFC1_000040 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.2325G>A r.(?) p.(Ser775=) Unknown - likely benign g.153222793C>T - HCFC1(NM_005334.2):c.2325G>A (p.S775=) - HCFC1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2463T>A r.(?) p.(Ile821=) Unknown - likely benign g.153222402A>T - HCFC1(NM_005334.2):c.2463T>A (p.I821=) - HCFC1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2492C>T r.(?) p.(Thr831Ile) Maternal (confirmed) - pathogenic g.153222373G>A g.153956922G>A - - HCFC1_000005 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
-?/. - c.2589C>T r.(?) p.(Ser863=) Unknown - likely benign g.153222122G>A - HCFC1(NM_005334.2):c.2589C>T (p.S863=) - HCFC1_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2590G>A r.(?) p.(Ala864Thr) Unknown - likely benign g.153222121C>T g.153956670C>T HCFC1(NM_005334.2):c.2590G>A (p.A864T), HCFC1(NM_005334.3):c.2590G>A (p.A864T) - HCFC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2590G>A r.(?) p.(Ala864Thr) Unknown - benign g.153222121C>T g.153956670C>T HCFC1(NM_005334.2):c.2590G>A (p.A864T), HCFC1(NM_005334.3):c.2590G>A (p.A864T) - HCFC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2590G>A r.(?) p.(Ala864Thr) Unknown - likely benign g.153222121C>T g.153956670C>T HCFC1(NM_005334.2):c.2590G>A (p.A864T), HCFC1(NM_005334.3):c.2590G>A (p.A864T) - HCFC1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2604C>T r.(?) p.(Ala868=) Unknown - likely benign g.153222107G>A g.153956656G>A HCFC1(NM_005334.3):c.2604C>T (p.A868=) - HCFC1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2626G>A r.(?) p.(Gly876Ser) Unknown - VUS g.153222085C>T g.153956634C>T HCFC1(NM_005334.2):c.2626G>A (p.G876S), HCFC1(NM_005334.3):c.2626G>A (p.G876S) - HCFC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2626G>A r.(?) p.(Gly876Ser) Unknown - likely benign g.153222085C>T - HCFC1(NM_005334.2):c.2626G>A (p.G876S), HCFC1(NM_005334.3):c.2626G>A (p.G876S) - HCFC1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2667C>T r.(?) p.(Thr889=) Unknown - likely benign g.153221831G>A - HCFC1(NM_005334.2):c.2667C>T (p.T889=) - HCFC1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2723C>T r.(?) p.(Thr908Met) Unknown - VUS g.153221775G>A - HCFC1(NM_005334.3):c.2723C>T (p.T908M) - HCFC1_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2777C>T r.(?) p.(Pro926Leu) Unknown - likely pathogenic g.153221721G>A - HCFC1(NM_005334.2):c.2777C>T (p.P926L) - HCFC1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2787C>T r.(?) p.(Ile929=) Unknown - likely benign g.153221711G>A g.153956260G>A HCFC1(NM_005334.2):c.2787C>T (p.I929=), HCFC1(NM_005334.3):c.2787C>T (p.I929=) - HCFC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2787C>T r.(?) p.(Ile929=) Unknown - likely benign g.153221711G>A g.153956260G>A HCFC1(NM_005334.2):c.2787C>T (p.I929=), HCFC1(NM_005334.3):c.2787C>T (p.I929=) - HCFC1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2797G>A r.(?) p.(Ala933Thr) Unknown - VUS g.153221701C>T g.153956250C>T HCFC1(NM_005334.2):c.2797G>A (p.(Ala933Thr)) - HCFC1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2817A>T r.(?) p.(Thr939=) Unknown - likely benign g.153221681T>A - HCFC1(NM_005334.2):c.2817A>T (p.T939=) - HCFC1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2841A>G r.(?) p.(Pro947=) Unknown - benign g.153221657T>C g.153956206T>C HCFC1(NM_005334.3):c.2841A>G (p.P947=) - HCFC1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2860G>A r.(?) p.(Val954Met) Unknown - VUS g.153220990C>T - HCFC1(NM_005334.2):c.2860G>A (p.V954M) - HCFC1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2872A>G r.(?) p.(Thr958Ala) Unknown - benign g.153220978T>C g.153955527T>C HCFC1(NM_005334.2):c.2872A>G (p.T958A, p.(Thr958Ala)), HCFC1(NM_005334.3):c.2872A>G (p.T958A) - HCFC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2872A>G r.(?) p.(Thr958Ala) Unknown - benign g.153220978T>C g.153955527T>C HCFC1(NM_005334.2):c.2872A>G (p.T958A, p.(Thr958Ala)), HCFC1(NM_005334.3):c.2872A>G (p.T958A) - HCFC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2872A>G r.(?) p.(Thr958Ala) Unknown - likely benign g.153220978T>C g.153955527T>C HCFC1(NM_005334.2):c.2872A>G (p.T958A, p.(Thr958Ala)), HCFC1(NM_005334.3):c.2872A>G (p.T958A) - HCFC1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2974G>A r.(?) p.(Ala992Thr) Unknown - likely benign g.153220876C>T - HCFC1(NM_005334.2):c.2974G>A (p.(Ala992Thr)) - HCFC1_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3018T>C r.(?) p.(Pro1006=) Unknown - likely benign g.153220832A>G - HCFC1(NM_005334.2):c.3018T>C (p.P1006=) - HCFC1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3211G>A r.(?) p.(Val1071Met) Unknown - likely benign g.153220639C>T g.153955188C>T HCFC1(NM_005334.2):c.3211G>A (p.V1071M) - HCFC1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3270C>T r.(?) p.(Thr1090=) Unknown - likely benign g.153220580G>A g.153955129G>A HCFC1(NM_005334.3):c.3270C>T (p.T1090=) - HCFC1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3270_3356del r.(?) p.(Thr1095_Ala1123del) Unknown - VUS g.153220529_153220615del g.153955078_153955164del HCFC1(NM_005334.2):c.3270_3356del (p.(Ala1094_Thr1122del)) - HCFC1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3290A>C r.(?) p.(Asn1097Thr) Unknown - likely benign g.153220560T>G g.153955109T>G HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T) - HCFC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3290A>C r.(?) p.(Asn1097Thr) Unknown - likely benign g.153220560T>G g.153955109T>G HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T) - HCFC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3290A>C r.(?) p.(Asn1097Thr) Unknown - likely benign g.153220560T>G - HCFC1(NM_005334.2):c.3290A>C (p.N1097T, p.(Asn1097Thr)), HCFC1(NM_005334.3):c.3290A>C (p.N1097T) - HCFC1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3292A>G r.(?) p.(Met1098Val) Unknown - VUS g.153220558T>C g.153955107T>C - - HCFC1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3338A>C r.(?) p.(Glu1113Ala) Unknown - VUS g.153220512T>G g.153955061T>G HCFC1(NM_005334.2):c.3338A>C (p.E1113A) - HCFC1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3353A>G r.(?) p.(Asn1118Ser) Unknown - likely benign g.153220497T>C g.153955046T>C HCFC1(NM_005334.2):c.3353A>G (p.N1118S) - HCFC1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3393C>T r.(?) p.(His1131=) Unknown - likely benign g.153220457G>A - HCFC1(NM_005334.2):c.3393C>T (p.H1131=) - HCFC1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3490T>C r.(?) p.(Ser1164Pro) Unknown - benign g.153220360A>G g.153954909A>G HCFC1(NM_005334.3):c.3490T>C (p.S1164P) - HCFC1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.3492C>T r.(?) p.(Ser1164=) Unknown - benign g.153220358G>A g.153954907G>A HCFC1(NM_005334.2):c.3492C>T (p.S1164=), HCFC1(NM_005334.3):c.3492C>T (p.S1164=) - HCFC1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3492C>T r.(?) p.(Ser1164=) Unknown - likely benign g.153220358G>A - HCFC1(NM_005334.2):c.3492C>T (p.S1164=), HCFC1(NM_005334.3):c.3492C>T (p.S1164=) - HCFC1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3555C>T r.(?) p.(Ala1185=) Unknown - likely benign g.153220295G>A - HCFC1(NM_005334.2):c.3555C>T (p.A1185=) - HCFC1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3615C>T r.(?) p.(Ser1205=) Unknown - likely benign g.153220235G>A g.153954784G>A HCFC1(NM_005334.3):c.3615C>T (p.S1205=) - HCFC1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.3644G>A r.(?) p.(Ser1215Asn) Unknown - VUS g.153220206C>T g.153954755C>T - - HCFC1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3690G>A r.(?) p.(Ala1230=) Unknown - likely benign g.153220160C>T - HCFC1(NM_005334.3):c.3690G>A (p.A1230=) - HCFC1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3757C>T r.(?) p.(Arg1253Cys) Unknown - likely benign g.153220093G>A g.153954642G>A HCFC1(NM_005334.2):c.3757C>T (p.R1253C) - HCFC1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3775G>A r.(?) p.(Glu1259Lys) Unknown - likely benign g.153220075C>T g.153954624C>T HCFC1(NM_005334.2):c.3775G>A (p.E1259K) - HCFC1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3892G>A r.(?) p.(Glu1298Lys) Unknown - VUS g.153219958C>T g.153954507C>T HCFC1(NM_005334.2):c.3892G>A (p.E1298K) - HCFC1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3894G>A r.(=) p.(=) Parent #1 - VUS g.153219956C>T g.153954505C>T A1298A - HCFC1_000039 recurrent, found 29 times PubMed: Tarpey 2009 - - Germline - 29/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 29 Lucy Raymond
-?/. - c.3903C>T r.(?) p.(Thr1301=) Unknown - likely benign g.153219947G>A - HCFC1(NM_005334.2):c.3903C>T (p.T1301=) - HCFC1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3907A>C r.(?) p.(Asn1303His) Unknown - likely benign g.153219943T>G g.153954492T>G HCFC1(NM_005334.2):c.3907A>C (p.(Asn1303His)) - HCFC1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.3930A>T r.(?) p.(Ala1310=) Unknown - likely benign g.153219920T>A - HCFC1(NM_005334.2):c.3930A>T (p.A1310=) - HCFC1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3987C>T r.(?) p.(Thr1329=) Unknown - likely benign g.153219863G>A - HCFC1(NM_005334.2):c.3987C>T (p.T1329=) - HCFC1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4006G>A r.(?) p.(Ala1336Thr) Unknown - VUS g.153219844C>T g.153954393C>T HCFC1(NM_005334.3):c.4006G>A (p.A1336T) - HCFC1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4025C>T r.(?) p.(Thr1342Met) Unknown - likely benign g.153219825G>A g.153954374G>A HCFC1(NM_005334.2):c.4025C>T (p.T1342M), HCFC1(NM_005334.3):c.4025C>T (p.T1342M) - HCFC1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4025C>T r.(?) p.(Thr1342Met) Unknown - likely benign g.153219825G>A - HCFC1(NM_005334.2):c.4025C>T (p.T1342M), HCFC1(NM_005334.3):c.4025C>T (p.T1342M) - HCFC1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4028G>A r.(?) p.(Gly1343Asp) Unknown - VUS g.153219822C>T - HCFC1(NM_005334.2):c.4028G>A (p.G1343D) - HCFC1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4068C>T r.(?) p.(Pro1356=) Unknown - benign g.153219782G>A g.153954331G>A HCFC1(NM_005334.2):c.4068C>T (p.P1356=), HCFC1(NM_005334.3):c.4068C>T (p.P1356=) - HCFC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.4068C>T r.(?) p.(Pro1356=) Unknown - benign g.153219782G>A g.153954331G>A HCFC1(NM_005334.2):c.4068C>T (p.P1356=), HCFC1(NM_005334.3):c.4068C>T (p.P1356=) - HCFC1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4077A>G r.(?) p.(Thr1359=) Unknown - likely benign g.153219773T>C g.153954322T>C HCFC1(NM_005334.2):c.4077A>G (p.T1359=) - HCFC1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4109C>T r.(?) p.(Ser1370Leu) Unknown - VUS g.153219741G>A g.153954290G>A - - HCFC1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4125C>T r.(?) p.(Ala1375=) Unknown - likely benign g.153219725G>A g.153954274G>A HCFC1(NM_005334.2):c.4125C>T (p.A1375=) - HCFC1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4135G>A r.(?) p.(Asp1379Asn) Unknown - likely benign g.153219715C>T g.153954264C>T HCFC1(NM_005334.2):c.4135G>A (p.D1379N) - HCFC1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4158C>G r.(?) p.(Thr1386=) Unknown - likely benign g.153219692G>C - HCFC1(NM_005334.2):c.4158C>G (p.T1386=) - HCFC1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4158C>T r.(?) p.(Thr1386=) Unknown - likely benign g.153219692G>A g.153954241G>A HCFC1(NM_005334.2):c.4158C>T (p.T1386=) - HCFC1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4159G>A r.(?) p.(Val1387Met) Unknown - likely benign g.153219691C>T g.153954240C>T HCFC1(NM_005334.2):c.4159G>A (p.V1387M, p.(Val1387Met)) - HCFC1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4159G>A r.(?) p.(Val1387Met) Unknown - likely benign g.153219691C>T - HCFC1(NM_005334.2):c.4159G>A (p.V1387M, p.(Val1387Met)) - HCFC1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.4185G>A r.(?) p.(Ala1395=) Unknown - benign g.153219665C>T g.153954214C>T HCFC1(NM_005334.3):c.4185G>A (p.A1395=) - HCFC1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.4194C>T r.(?) p.(Ser1398=) Unknown - likely benign g.153219656G>A g.153954205G>A HCFC1(NM_005334.2):c.4194C>T (p.S1398=), HCFC1(NM_005334.3):c.4194C>T (p.S1398=) - HCFC1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4194C>T r.(?) p.(Ser1398=) Unknown - likely benign g.153219656G>A - HCFC1(NM_005334.2):c.4194C>T (p.S1398=), HCFC1(NM_005334.3):c.4194C>T (p.S1398=) - HCFC1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.4195G>A r.(?) p.(Val1399Ile) Unknown - VUS g.153219655C>T g.153954204C>T HCFC1(NM_005334.2):c.4195G>A (p.(Val1399Ile)) - HCFC1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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