Full data view for gene NSDHL

Information The variants shown are described using the NM_015922.2 transcript reference sequence.

50 entries on 1 page. Showing entries 1 - 50.
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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.-1877A>T r.(?) p.(=) Unknown - likely benign g.151997828A>T g.152829284A>T CETN2(NM_004344.1):c.163-7T>A (p.(=)) - NSDHL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1540A>G r.(?) p.(=) Unknown - VUS g.151998165A>G g.152829621A>G CETN2(NM_004344.1):c.143T>C (p.I48T) - NSDHL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-44+10G>A r.(=) p.(=) Unknown - likely benign g.151999671G>A g.152831127G>A NSDHL(NM_015922.3):c.-44+10G>A - NSDHL_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.19G>A r.(?) p.(Glu7Lys) Unknown - likely benign g.152014887G>A g.152846343G>A NSDHL(NM_001129765.1):c.19G>A (p.E7K) - NSDHL_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.25A>G r.(?) p.(Met9Val) Unknown - likely benign g.152014893A>G g.152846349A>G NSDHL(NM_001129765.1):c.25A>G (p.(Met9Val)) - NSDHL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65C>T r.(?) p.(Thr22Ile) Unknown - likely benign g.152014933C>T g.152846389C>T NSDHL(NM_001129765.1):c.65C>T (p.T22I, p.(Thr22Ile)) - NSDHL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.65C>T r.(?) p.(Thr22Ile) Unknown - likely benign g.152014933C>T g.152846389C>T NSDHL(NM_001129765.1):c.65C>T (p.T22I, p.(Thr22Ile)) - NSDHL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93G>T r.(?) p.(Lys31Asn) Unknown - likely benign g.152014961G>T g.152846417G>T NSDHL(NM_001129765.1):c.93G>T (p.K31N) - NSDHL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.117A>T r.(?) p.(Arg39Ser) Unknown - likely benign g.152018817A>T - NSDHL(NM_015922.3):c.117A>T (p.R39S) - NSDHL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.132T>G r.(?) p.(=) Maternal (inferred) - VUS g.152018832T>G g.152850288T>G - - NSDHL_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.132T>G r.(?) p.(=) Maternal (inferred) - VUS g.152018832T>G g.152850288T>G - - NSDHL_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-/. - c.132T>G r.(?) p.(Gly44=) Unknown - benign g.152018832T>G g.152850288T>G NSDHL(NM_001129765.1):c.132T>G (p.G44=) - NSDHL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.132T>G r.(?) p.(Gly44=) Unknown - benign g.152018832T>G g.152850288T>G NSDHL(NM_001129765.1):c.132T>G (p.G44=) - NSDHL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 3 c.132T>G r.(?) p.(=) Parent #1 - VUS g.152018832T>G g.152850288T>G G44G - NSDHL_000001 recurrent, found 48 times PubMed: Tarpey 2009 - - Germline - 48/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 48 Lucy Raymond
?/. - c.214G>A r.(?) p.(Gly72Arg) Unknown - VUS g.152018914G>A - NSDHL(NM_015922.3):c.214G>A (p.G72R) - NSDHL_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233T>C r.(?) p.(Val78Ala) Unknown - likely benign g.152018933T>C g.152850389T>C NSDHL(NM_001129765.1):c.233T>C (p.(Val78Ala)) - NSDHL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253C>G r.(?) p.(Leu85Val) Both (homozygous) - VUS g.152018953C>G g.152850409C>G - - NSDHL_000014 - Journal: Reynhout 2019 - - Germline - - - 0 - DNA SEQ, SEQ-NG - singleton WES SEMDSP -Pat7 Journal: Chang 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Korea, South (Republic) - - 0 - - 1 Johan den Dunnen
-?/. - c.268-15dup r.(=) p.(=) Unknown - likely benign g.152027299dup g.152858755dup NSDHL(NM_015922.3):c.268-15dupT - NSDHL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.295A>G r.(?) p.(Asn99Asp) Unknown - likely benign g.152027341A>G g.152858797A>G NSDHL(NM_015922.3):c.295A>G (p.N99D) - NSDHL_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.306C>T r.(?) p.(Phe102=) Unknown - likely benign g.152027352C>T g.152858808C>T NSDHL(NM_015922.3):c.306C>T (p.F102=) - NSDHL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.315G>A r.(?) p.(Ala105=) Unknown - likely benign g.152027361G>A - NSDHL(NM_015922.3):c.315G>A (p.A105=) - NSDHL_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.351T>C r.(?) p.(Phe117=) Unknown - likely benign g.152027397T>C g.152858853T>C NSDHL(NM_001129765.1):c.351T>C (p.F117=) - NSDHL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>A r.(?) p.(Arg119Lys) Unknown - likely benign g.152027402G>A g.152858858G>A NSDHL(NM_001129765.1):c.356G>A (p.(Arg119Lys), p.R119K), NSDHL(NM_015922.3):c.356G>A (p.R119K) - NSDHL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>A r.(?) p.(Arg119Lys) Unknown - likely benign g.152027402G>A g.152858858G>A NSDHL(NM_001129765.1):c.356G>A (p.(Arg119Lys), p.R119K), NSDHL(NM_015922.3):c.356G>A (p.R119K) - NSDHL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.356G>A r.(?) p.(Arg119Lys) Unknown - likely benign g.152027402G>A g.152858858G>A NSDHL(NM_001129765.1):c.356G>A (p.(Arg119Lys), p.R119K), NSDHL(NM_015922.3):c.356G>A (p.R119K) - NSDHL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.455G>A r.(?) p.(Gly152Asp) Maternal (confirmed) - pathogenic (recessive) g.152031180G>A g.152862636G>A - - NSDHL_000013 - PubMed: Martinez 2017, Journal: Martinez 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - 1256 gene panel ID 27620904-Pat09 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - 0 - - 1 Johan den Dunnen
-?/. - c.457G>A r.(?) p.(Val153Ile) Unknown - likely benign g.152031182G>A - NSDHL(NM_015922.3):c.457G>A (p.V153I) - NSDHL_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.543+8C>T r.(=) p.(=) Unknown - likely benign g.152031276C>T g.152862732C>T NSDHL(NM_015922.3):c.543+8C>T - NSDHL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.627G>A r.(?) p.(Pro209=) Unknown - likely benign g.152034446G>A - NSDHL(NM_015922.3):c.627G>A (p.P209=) - NSDHL_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678C>T r.(?) p.(Phe226=) Unknown - likely benign g.152034497C>T g.152865953C>T NSDHL(NM_001129765.1):c.678C>T (p.F226=), NSDHL(NM_015922.3):c.678C>T (p.F226=) - NSDHL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.678C>T r.(?) p.(Phe226=) Unknown - likely benign g.152034497C>T g.152865953C>T NSDHL(NM_001129765.1):c.678C>T (p.F226=), NSDHL(NM_015922.3):c.678C>T (p.F226=) - NSDHL_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.726C>T r.(?) p.(Asn242=) Unknown - likely benign g.152036154C>T - NSDHL(NM_015922.3):c.726C>T (p.N242=) - NSDHL_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.789+235G>C r.(=) p.(=) Maternal (inferred) - VUS g.152036452G>C g.152867908G>C - - NSDHL_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.789+235G>C r.(=) p.(=) Maternal (inferred) - VUS g.152036452G>C g.152867908G>C - - NSDHL_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.834C>T r.(?) p.(Phe278=) Unknown - likely benign g.152037372C>T g.152868828C>T NSDHL(NM_001129765.1):c.834C>T (p.F278=) - NSDHL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.841C>T r.(?) p.(Arg281Cys) Unknown - likely benign g.152037379C>T g.152868835C>T NSDHL(NM_001129765.1):c.841C>T (p.R281C) - NSDHL_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.904T>C r.(?) p.(Tyr302His) Unknown - VUS g.152037442T>C - - - NSDHL_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947C>G r.(?) p.(Pro316Arg) Unknown - VUS g.152037485C>G g.152868941C>G NSDHL(NM_015922.3):c.947C>G (p.P316R) - NSDHL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.947C>G r.(?) p.(Pro316Arg) Unknown - VUS g.152037485C>G g.152868941C>G NSDHL(NM_015922.3):c.947C>G (p.P316R) - NSDHL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020C>T r.(?) p.(Cys340=) Unknown - likely benign g.152037558C>T g.152869014C>T NSDHL(NM_001129765.1):c.1020C>T (p.C340=), NSDHL(NM_015922.3):c.1020C>T (p.C340=) - NSDHL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020C>T r.(?) p.(Cys340=) Unknown - likely benign g.152037558C>T - NSDHL(NM_001129765.1):c.1020C>T (p.C340=), NSDHL(NM_015922.3):c.1020C>T (p.C340=) - NSDHL_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1054C>T r.(?) p.(Leu352=) Unknown - likely benign g.152037592C>T g.152869048C>T NSDHL(NM_001129765.1):c.1054C>T (p.L352=), NSDHL(NM_015922.3):c.1054C>T (p.L352=) - NSDHL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1054C>T r.(?) p.(Leu352=) Unknown - likely benign g.152037592C>T g.152869048C>T NSDHL(NM_001129765.1):c.1054C>T (p.L352=), NSDHL(NM_015922.3):c.1054C>T (p.L352=) - NSDHL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 8 c.1054C>T r.(?) p.(=) Parent #1 - VUS g.152037592C>T g.152869048C>T L352L - NSDHL_000011 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.1087G>A r.(?) p.(Val363Met) Unknown - benign g.152037625G>A g.152869081G>A NSDHL(NM_015922.3):c.1087G>A (p.V363M) - NSDHL_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1098dup r.(?) p.(Arg367Serfs*33) Parent #1 - VUS g.152037636dup g.152869092dup R367Sfs*33 - NSDHL_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.1108C>T r.(?) p.(Arg370Trp) Unknown - VUS g.152037646C>T - NSDHL(NM_001129765.1):c.1108C>T (p.(Arg370Trp)), NSDHL(NM_015922.3):c.1108C>T (p.R370W) - NSDHL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1108C>T r.(?) p.(Arg370Trp) Unknown - likely benign g.152037646C>T - NSDHL(NM_001129765.1):c.1108C>T (p.(Arg370Trp)), NSDHL(NM_015922.3):c.1108C>T (p.R370W) - NSDHL_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109G>A r.(?) p.(Arg370Gln) Unknown - likely benign g.152037647G>A g.152869103G>A NSDHL(NM_001129765.1):c.1109G>A (p.R370Q) - NSDHL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1109G>A r.(?) p.(Arg370Gln) Unknown - likely benign g.152037647G>A g.152869103G>A NSDHL(NM_001129765.1):c.1109G>A (p.R370Q) - NSDHL_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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