Full data view for gene FAM131A

Information The variants shown are described using the NM_144635.4 transcript reference sequence.

143 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.-6276C>T r.(?) p.(=) Unknown - benign g.184049143C>T g.184331355C>T EIF4G1(NM_001194946.1):c.4272C>T (p.V1424=), EIF4G1(NM_182917.4):c.4254C>T (p.V1418=) - EIF4G1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6276C>T r.(?) p.(=) Unknown - benign g.184049143C>T g.184331355C>T EIF4G1(NM_001194946.1):c.4272C>T (p.V1424=), EIF4G1(NM_182917.4):c.4254C>T (p.V1418=) - EIF4G1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6275G>A r.(?) p.(=) Unknown - likely benign g.184049144G>A g.184331356G>A EIF4G1(NM_182917.4):c.4255G>A (p.A1419T) - EIF4G1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6108C>T r.(?) p.(=) Unknown - VUS g.184049311C>T g.184331523C>T EIF4G1(NM_182917.4):c.4315C>T (p.L1439F) - EIF4G1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6088C>G r.(?) p.(=) Unknown - VUS g.184049331C>G - EIF4G1(NM_198241.2):c.4332C>G (p.(Asn1444Lys)) - EIF4G1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6037C>T r.(?) p.(=) Unknown - benign g.184049382C>T g.184331594C>T EIF4G1(NM_182917.4):c.4386C>T (p.F1462=) - EIF4G1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6037C>T r.(?) p.(=) Unknown - likely benign g.184049382C>T g.184331594C>T EIF4G1(NM_182917.4):c.4386C>T (p.F1462=) - EIF4G1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6034C>T r.(?) p.(=) Unknown - benign g.184049385C>T g.184331597C>T EIF4G1(NM_001194946.1):c.4407C>T (p.D1469=), EIF4G1(NM_182917.4):c.4389C>T (p.D1463=) - EIF4G1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6034C>T r.(?) p.(=) Unknown - likely benign g.184049385C>T g.184331597C>T EIF4G1(NM_001194946.1):c.4407C>T (p.D1469=), EIF4G1(NM_182917.4):c.4389C>T (p.D1463=) - EIF4G1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-6024G>A r.(?) p.(=) Unknown - VUS g.184049395G>A g.184331607G>A - - EIF4G1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-6020G>A r.(?) p.(=) Unknown - likely benign g.184049399G>A g.184331611G>A EIF4G1(NM_182917.4):c.4398+5G>A - EIF4G1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-6020G>A r.(?) p.(=) Unknown - benign g.184049399G>A g.184331611G>A EIF4G1(NM_182917.4):c.4398+5G>A - EIF4G1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5835T>C r.(?) p.(=) Unknown - likely benign g.184049584T>C - EIF4G1(NM_182917.4):c.4467T>C (p.Y1489=) - EIF4G1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5663C>T r.(?) p.(=) Unknown - likely benign g.184049756C>T g.184331968C>T EIF4G1(NM_182917.4):c.4503C>T (p.D1501=) - EIF4G1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5663C>T r.(?) p.(=) Unknown - likely benign g.184049756C>T - EIF4G1(NM_182917.4):c.4503C>T (p.D1501=) - EIF4G1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5653C>T r.(?) p.(=) Unknown - benign g.184049766C>T g.184331978C>T EIF4G1(NM_182917.4):c.4513C>T (p.L1505=) - EIF4G1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5645G>A r.(?) p.(=) Unknown - likely benign g.184049774G>A g.184331986G>A EIF4G1(NM_001194946.1):c.4539G>A (p.A1513=), EIF4G1(NM_182917.4):c.4521G>A (p.A1507=) - EIF4G1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5645G>A r.(?) p.(=) Unknown - likely benign g.184049774G>A g.184331986G>A EIF4G1(NM_001194946.1):c.4539G>A (p.A1513=), EIF4G1(NM_182917.4):c.4521G>A (p.A1507=) - EIF4G1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5645G>C r.(?) p.(=) Unknown - likely benign g.184049774G>C g.184331986G>C EIF4G1(NM_182917.4):c.4521G>C (p.A1507=) - EIF4G1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5640C>T r.(?) p.(=) Unknown - VUS g.184049779C>T g.184331991C>T EIF4G1(NM_182917.4):c.4526C>T (p.A1509V) - EIF4G1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-5612C>T r.(?) p.(=) Unknown - benign g.184049807C>T g.184332019C>T EIF4G1(NM_182917.4):c.4554C>T (p.D1518=) - EIF4G1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5612C>T r.(?) p.(=) Unknown - likely benign g.184049807C>T g.184332019C>T EIF4G1(NM_182917.4):c.4554C>T (p.D1518=) - EIF4G1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-5586A>G r.(?) p.(=) Unknown - VUS g.184049833A>G g.184332045A>G EIF4G1(NM_182917.4):c.4580A>G (p.Y1527C) - EIF4G1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2894G>A r.(?) p.(=) Unknown - likely benign g.184052525G>A g.184334737G>A EIF4G1(NM_182917.4):c.4632G>A (p.R1544=) - EIF4G1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2882C>T r.(?) p.(=) Unknown - likely benign g.184052537C>T - EIF4G1(NM_182917.4):c.4644C>T (p.D1548=) - EIF4G1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2772C>T r.(?) p.(=) Unknown - likely benign g.184052647C>T g.184334859C>T EIF4G1(NM_182917.4):c.4754C>T (p.A1585V), EIF4G1(NM_198241.3):c.4751C>T (p.(Ala1584Val)) - EIF4G1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2772C>T r.(?) p.(=) Unknown - VUS g.184052647C>T g.184334859C>T EIF4G1(NM_182917.4):c.4754C>T (p.A1585V), EIF4G1(NM_198241.3):c.4751C>T (p.(Ala1584Val)) - EIF4G1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2772C>T r.(?) p.(=) Unknown - likely benign g.184052647C>T - EIF4G1(NM_182917.4):c.4754C>T (p.A1585V), EIF4G1(NM_198241.3):c.4751C>T (p.(Ala1584Val)) - EIF4G1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1650C>T r.(=) p.(=) Unknown - likely benign g.184064408C>T g.184346620C>T CLCN2(NM_004366.5):c.2683G>A (p.D895N) - FAM131A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1688T>A r.(=) p.(=) Unknown - likely benign g.184064446T>A - CLCN2(NM_001171087.2):c.2594A>T (p.(His865Leu)) - FAM131A_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1691C>T r.(=) p.(=) Unknown - likely benign g.184064449C>T g.184346661C>T CLCN2(NM_001171087.2):c.2591G>A (p.(Arg864His)), CLCN2(NM_004366.5):c.2642G>A (p.R881H) - FAM131A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1691C>T r.(=) p.(=) Unknown - VUS g.184064449C>T g.184346661C>T CLCN2(NM_001171087.2):c.2591G>A (p.(Arg864His)), CLCN2(NM_004366.5):c.2642G>A (p.R881H) - FAM131A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1756G>C r.(=) p.(=) Unknown - VUS g.184064514G>C - CLCN2(NM_001171087.2):c.2526C>G (p.(Asp842Glu)) - FAM131A_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1802G>C r.(=) p.(=) Unknown - VUS g.184064560G>C - CLCN2(NM_001171087.2):c.2480C>G (p.(Thr827Arg)) - FAM131A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2034T>C r.(=) p.(=) Unknown - likely benign g.184064792T>C - CLCN2(NM_004366.5):c.2433A>G (p.(Ser811=)) - FAM131A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7034T>C r.(=) p.(=) Unknown - benign g.184069792T>C g.184352004T>C CLCN2(NM_001171087.2):c.2364+9A>G (p.(=)), CLCN2(NM_004366.6):c.2415+9A>G - CLCN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7034T>C r.(=) p.(=) Unknown - benign g.184069792T>C - CLCN2(NM_001171087.2):c.2364+9A>G (p.(=)), CLCN2(NM_004366.6):c.2415+9A>G - CLCN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7034T>C r.(=) p.(=) Unknown - benign g.184069792T>C - CLCN2(NM_001171087.2):c.2364+9A>G (p.(=)), CLCN2(NM_004366.6):c.2415+9A>G - CLCN2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7038_*7039dup r.(=) p.(=) Unknown - benign g.184069796_184069797dup g.184352008_184352009dup CLCN2(NM_001171087.2):c.2364+5_2364+6dup (p.?), CLCN2(NM_004366.6):c.2415+5_2415+6dupGG - FAM131A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7038_*7039dup r.(=) p.(=) Unknown - likely benign g.184069796_184069797dup - CLCN2(NM_001171087.2):c.2364+5_2364+6dup (p.?), CLCN2(NM_004366.6):c.2415+5_2415+6dupGG - FAM131A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7465A>C r.(=) p.(=) Unknown - benign g.184070223A>C g.184352435A>C CLCN2(NM_001171087.2):c.2220+8T>G (p.(=)), CLCN2(NM_004366.6):c.2271+8T>G - CLCN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7465A>C r.(=) p.(=) Unknown - likely benign g.184070223A>C g.184352435A>C CLCN2(NM_001171087.2):c.2220+8T>G (p.(=)), CLCN2(NM_004366.6):c.2271+8T>G - CLCN2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7483A>G r.(=) p.(=) Unknown - VUS g.184070241A>G g.184352453A>G CLCN2(NM_004366.5):c.2261T>C (p.I754T) - FAM131A_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7544C>T r.(=) p.(=) Unknown - likely benign g.184070302C>T - CLCN2(NM_004366.5):c.2218-18G>A (p.(=)) - FAM131A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7749C>G r.(=) p.(=) Unknown - likely benign g.184070507C>G - CLCN2(NM_004366.6):c.2217+18G>C - FAM131A_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7755C>T r.(=) p.(=) Unknown - likely benign g.184070513C>T - CLCN2(NM_001171087.2):c.2166+12G>A (p.(=)) - FAM131A_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7827C>T r.(=) p.(=) Unknown - likely benign g.184070585C>T g.184352797C>T CLCN2(NM_001171087.2):c.2106G>A (p.(=)) - FAM131A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7830C>G r.(=) p.(=) Unknown - likely benign g.184070588C>G g.184352800C>G CLCN2(NM_001171087.2):c.2103G>C (p.(Glu701Asp)), CLCN2(NM_004366.6):c.2154G>C (p.E718D) - CLCN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*7830C>G r.(=) p.(=) Unknown - likely benign g.184070588C>G g.184352800C>G CLCN2(NM_001171087.2):c.2103G>C (p.(Glu701Asp)), CLCN2(NM_004366.6):c.2154G>C (p.E718D) - CLCN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*7830C>G r.(=) p.(=) Unknown - benign g.184070588C>G - CLCN2(NM_001171087.2):c.2103G>C (p.(Glu701Asp)), CLCN2(NM_004366.6):c.2154G>C (p.E718D) - CLCN2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8143C>T r.(=) p.(=) Unknown - likely benign g.184070901C>T g.184353113C>T CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8143C>T r.(=) p.(=) Unknown - benign g.184070901C>T g.184353113C>T CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8143C>T r.(=) p.(=) Unknown - likely benign g.184070901C>T g.184353113C>T CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8143C>T r.(=) p.(=) Unknown - benign g.184070901C>T - CLCN2(NM_001171087.2):c.2012G>A (p.(Arg671Gln)), CLCN2(NM_004366.6):c.2063G>A (p.R688Q) - CLCN2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8261T>C r.(=) p.(=) Unknown - benign g.184071019T>C - CLCN2(NM_004366.6):c.2028+19A>G - FAM131A_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8291C>A r.(=) p.(=) Unknown - VUS g.184071049C>A - CLCN2(NM_004366.6):c.2017G>T (p.V673F) - FAM131A_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8305G>C r.(=) p.(=) Unknown - benign g.184071063G>C g.184353275G>C CLCN2(NM_004366.6):c.2003C>G (p.T668S) - CLCN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8305G>C r.(=) p.(=) Unknown - benign g.184071063G>C - CLCN2(NM_004366.6):c.2003C>G (p.T668S) - CLCN2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8317T>A r.(=) p.(=) Unknown - likely benign g.184071075T>A - CLCN2(NM_001171087.2):c.1940A>T (p.(Glu647Val)) - FAM131A_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8327A>T r.(=) p.(=) Unknown - likely benign g.184071085A>T g.184353297A>T CLCN2(NM_001171087.2):c.1930T>A (p.(Ser644Thr)), CLCN2(NM_004366.6):c.1981T>A (p.S661T) - CLCN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8327A>T r.(=) p.(=) Unknown - likely benign g.184071085A>T - CLCN2(NM_001171087.2):c.1930T>A (p.(Ser644Thr)), CLCN2(NM_004366.6):c.1981T>A (p.S661T) - CLCN2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*8351T>A r.(=) p.(=) Unknown - pathogenic g.184071109T>A - CLCN2(NM_004366.5):c.1957A>T (p.R653*) - FAM131A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8371C>T r.(=) p.(=) Unknown - likely benign g.184071129C>T g.184353341C>T CLCN2(NM_001171087.2):c.1886G>A (p.(Arg629Gln)), CLCN2(NM_004366.5):c.1937G>A (p.R646Q), CLCN2(NM_004366.6):c.1937G>A (p.R646Q) - FAM131A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8371C>T r.(=) p.(=) Unknown - likely benign g.184071129C>T - CLCN2(NM_001171087.2):c.1886G>A (p.(Arg629Gln)), CLCN2(NM_004366.5):c.1937G>A (p.R646Q), CLCN2(NM_004366.6):c.1937G>A (p.R646Q) - FAM131A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8371C>T r.(=) p.(=) Unknown - likely benign g.184071129C>T - CLCN2(NM_001171087.2):c.1886G>A (p.(Arg629Gln)), CLCN2(NM_004366.5):c.1937G>A (p.R646Q), CLCN2(NM_004366.6):c.1937G>A (p.R646Q) - FAM131A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8377_*8379dup r.(=) p.(=) Unknown - likely benign g.184071135_184071137dup g.184353347_184353349dup CLCN2(NM_001171087.2):c.1881_1883dup (p.(Arg629dup)), CLCN2(NM_004366.6):c.1932_1934dupCCG (p.R646dup) - CLCN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8377_*8379dup r.(=) p.(=) Unknown - benign g.184071135_184071137dup g.184353347_184353349dup CLCN2(NM_001171087.2):c.1881_1883dup (p.(Arg629dup)), CLCN2(NM_004366.6):c.1932_1934dupCCG (p.R646dup) - CLCN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*8377_*8379dup r.(=) p.(=) Unknown - benign g.184071135_184071137dup - CLCN2(NM_001171087.2):c.1881_1883dup (p.(Arg629dup)), CLCN2(NM_004366.6):c.1932_1934dupCCG (p.R646dup) - CLCN2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8423G>A r.(=) p.(=) Unknown - VUS g.184071181G>A g.184353393G>A CLCN2(NM_004366.5):c.1885C>T (p.R629C) - FAM131A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8455G>A r.(=) p.(=) Unknown - likely benign g.184071213G>A - CLCN2(NM_004366.5):c.1856-3C>T - FAM131A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8718C>T r.(=) p.(=) Unknown - VUS g.184071476C>T - CLCN2(NM_001171087.2):c.1778G>A (p.(Arg593Gln)) - FAM131A_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8752C>T r.(=) p.(=) Unknown - VUS g.184071510C>T g.184353722C>T CLCN2(NM_001171087.2):c.1744G>A (p.(Asp582Asn)), CLCN2(NM_004366.6):c.1795G>A (p.D599N) - CLCN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8752C>T r.(=) p.(=) Unknown - VUS g.184071510C>T - CLCN2(NM_001171087.2):c.1744G>A (p.(Asp582Asn)), CLCN2(NM_004366.6):c.1795G>A (p.D599N) - CLCN2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8790C>T r.(=) p.(=) Unknown - VUS g.184071548C>T g.184353760C>T CLCN2(NM_004366.6):c.1757G>A (p.R586Q) - CLCN2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8817C>T r.(=) p.(=) Unknown - VUS g.184071575C>T - CLCN2(NM_001171087.2):c.1679G>A (p.(Arg560Gln)) - CLCN2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*8823T>A r.(=) p.(=) Unknown - VUS g.184071581T>A g.184353793T>A - - FAM131A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8843C>T r.(=) p.(=) Unknown - likely benign g.184071601C>T - CLCN2(NM_001171087.2):c.1671-18G>A (p.(=)), CLCN2(NM_004366.6):c.1722-18G>A - FAM131A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8843C>T r.(=) p.(=) Unknown - likely benign g.184071601C>T - CLCN2(NM_001171087.2):c.1671-18G>A (p.(=)), CLCN2(NM_004366.6):c.1722-18G>A - FAM131A_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*8844G>A r.(=) p.(=) Unknown - likely benign g.184071602G>A - CLCN2(NM_004366.6):c.1722-19C>T - FAM131A_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9126C>T r.(=) p.(=) Unknown - likely benign g.184071884C>T g.184354096C>T CLCN2(NM_004366.6):c.1721+5G>A - CLCN2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9148G>A r.(=) p.(=) Unknown - likely benign g.184071906G>A g.184354118G>A CLCN2(NM_001171087.2):c.1653C>T (p.(Leu551=)) - FAM131A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9200G>T r.(=) p.(=) Unknown - VUS g.184071958G>T - CLCN2(NM_004366.5):c.1652C>A (p.(Ser551Tyr)) - FAM131A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9219C>T r.(=) p.(=) Unknown - VUS g.184071977C>T - CLCN2(NM_001171087.2):c.1582G>A (p.(Ala528Thr)) - FAM131A_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9226G>A r.(=) p.(=) Unknown - likely benign g.184071984G>A g.184354196G>A CLCN2(NM_001171087.2):c.1575C>T (p.(Asn525=)), CLCN2(NM_004366.6):c.1626C>T (p.N542=) - CLCN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*9226G>A r.(=) p.(=) Unknown - benign g.184071984G>A - CLCN2(NM_001171087.2):c.1575C>T (p.(Asn525=)), CLCN2(NM_004366.6):c.1626C>T (p.N542=) - CLCN2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9292G>A r.(=) p.(=) Unknown - likely benign g.184072050G>A - CLCN2(NM_001171087.2):c.1509C>T (p.(Ile503=)) - FAM131A_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9302G>A r.(=) p.(=) Unknown - VUS g.184072060G>A - CLCN2(NM_001171087.2):c.1499C>T (p.(Thr500Met)) - FAM131A_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9304G>T r.(=) p.(=) Unknown - likely benign g.184072062G>T - CLCN2(NM_004366.5):c.1548C>A (p.S516=), CLCN2(NM_004366.6):c.1548C>A (p.S516=) - FAM131A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9304G>T r.(=) p.(=) Unknown - likely benign g.184072062G>T - CLCN2(NM_004366.5):c.1548C>A (p.S516=), CLCN2(NM_004366.6):c.1548C>A (p.S516=) - FAM131A_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9322C>T r.(=) p.(=) Unknown - likely benign g.184072080C>T - CLCN2(NM_004366.5):c.1530G>A (p.A510=) - FAM131A_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9323G>A r.(=) p.(=) Unknown - VUS g.184072081G>A g.184354293G>A CLCN2(NM_004366.5):c.1529C>T (p.A510V) - FAM131A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9360C>T r.(=) p.(=) Unknown - likely benign g.184072118C>T g.184354330C>T CLCN2(NM_001171087.2):c.1457-16G>A (p.(=)) - FAM131A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9562G>A r.(=) p.(=) Unknown - likely benign g.184072320G>A - CLCN2(NM_001171087.2):c.1456+16C>T (p.(=)) - FAM131A_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*9599G>A r.(=) p.(=) Unknown - VUS g.184072357G>A - CLCN2(NM_004366.6):c.1486C>T (p.(Pro496Ser)) - FAM131A_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9624C>A r.(=) p.(=) Unknown - likely benign g.184072382C>A - CLCN2(NM_001171087.2):c.1410G>T (p.(=)) - FAM131A_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9669C>G r.(=) p.(=) Unknown - likely benign g.184072427C>G - CLCN2(NM_004366.5):c.1416G>C (p.L472=) - FAM131A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9699G>C r.(=) p.(=) Unknown - likely benign g.184072457G>C g.184354669G>C CLCN2(NM_001171088.2):c.1265-11C>G (p.(=)), CLCN2(NM_004366.6):c.1397-11C>G - CLCN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9699G>C r.(=) p.(=) Unknown - likely benign g.184072457G>C - CLCN2(NM_001171088.2):c.1265-11C>G (p.(=)), CLCN2(NM_004366.6):c.1397-11C>G - CLCN2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*9701G>A r.(=) p.(=) Unknown - benign g.184072459G>A - CLCN2(NM_004366.6):c.1397-13C>T - FAM131A_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*9835G>T r.(=) p.(=) Unknown - likely benign g.184072593G>T g.184354805G>T CLCN2(NM_004366.6):c.1396+99C>A - FAM131A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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