Full data view for gene DDHD2

Information The variants shown are described using the NM_015214.2 transcript reference sequence.

62 entries on 1 page. Showing entries 1 - 62.
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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.-74C>T r.(?) p.(=) Unknown - benign g.38089312C>T g.38231794C>T - - DDHD2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.139T>G r.(?) p.(Cys47Gly) Unknown - VUS g.38090651T>G - DDHD2(NM_015214.3):c.139T>G (p.(Cys47Gly)) - DDHD2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.226G>T r.(?) p.(Gly76Cys) Unknown - VUS g.38091917G>T g.38234399G>T DDHD2(NM_001164232.1):c.226G>T (p.(Gly76Cys)), DDHD2(NM_001362912.1):c.226G>T (p.G76C) - DDHD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.226G>T r.(?) p.(Gly76Cys) Unknown - likely benign g.38091917G>T - DDHD2(NM_001164232.1):c.226G>T (p.(Gly76Cys)), DDHD2(NM_001362912.1):c.226G>T (p.G76C) - DDHD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227G>A r.(?) p.(Gly76Asp) Unknown - VUS g.38091918G>A g.38234400G>A DDHD2(NM_001164232.1):c.227G>A (p.(Gly76Asp)), DDHD2(NM_001362912.1):c.227G>A (p.G76D) - DDHD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.227G>A r.(?) p.(Gly76Asp) Unknown - likely benign g.38091918G>A - DDHD2(NM_001164232.1):c.227G>A (p.(Gly76Asp)), DDHD2(NM_001362912.1):c.227G>A (p.G76D) - DDHD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.292C>T r.(?) p.(Arg98Trp) Parent #1 - pathogenic (recessive) g.38091983C>T g.38234465C>T - - DDHD2_000052 - PubMed: Salinas 2020 SUB7801636 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat62 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
+/. - c.400C>T r.(?) p.(Gln134Ter) Unknown - pathogenic g.38092091C>T - DDHD2(NM_015214.3):c.400C>T (p.Q134*) - DDHD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.557C>T r.(?) p.(Thr186Met) Unknown - benign g.38095662C>T g.38238144C>T DDHD2(NM_015214.2):c.557C>T (p.T186M) - DDHD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.557C>T r.(?) p.(Thr186Met) Unknown - likely benign g.38095662C>T g.38238144C>T DDHD2(NM_015214.2):c.557C>T (p.T186M) - DDHD2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.694C>T r.(?) p.(Arg232*) Unknown - pathogenic g.38097864C>T - DDHD2(NM_015214.2):c.694C>T (p.R232*) - DDHD2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.849-21T>A r.(=) p.(=) Unknown - benign g.38103239T>A g.38245721T>A DDHD2(NM_015214.2):c.849-21T>A - DDHD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849-8T>A r.(=) p.(=) Unknown - likely benign g.38103252T>A - DDHD2(NM_015214.3):c.849-8T>A - DDHD2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8 c.859C>T r.(?) p.(Arg287*) Both (homozygous) - pathogenic g.38103270C>T g.38245752C>T - - DDHD2_000004 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline - - - - - DNA SEQ-NG - - SPG54 - PubMed: Novarino 2014, Journal: Novarino 2014 5-generation family, 4 affecteds (4F), unaffected heterozygous carrier parents, patient 1314-I-V-1 F yes - - - - added by student Iris van Schaik - 4 Johan den Dunnen
+/. - c.859C>T r.(?) p.(Arg287Ter) Unknown - pathogenic g.38103270C>T - DDHD2(NM_001362912.2):c.859C>T (p.R287*) - DDHD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864A>C r.(?) p.(Ile288=) Unknown - likely benign g.38103275A>C g.38245757A>C DDHD2(NM_015214.2):c.864A>C (p.I288=) - DDHD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.899C>T r.(?) p.(Thr300Ile) Unknown - likely benign g.38103310C>T g.38245792C>T DDHD2(NM_015214.2):c.899C>T (p.T300I) - DDHD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.912T>A r.(?) p.(Ile304=) Unknown - benign g.38103323T>A g.38245805T>A DDHD2(NM_015214.2):c.912T>A (p.I304=) - DDHD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.926_928del r.(?) p.(Phe309del) Unknown - likely pathogenic g.38103337_38103339del g.38245819_38245821del DDHD2(NM_001362912.2):c.926_928delTCT (p.F309del) - DDHD2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.930C>T r.(?) p.(Tyr310=) Unknown - likely benign g.38103341C>T g.38245823C>T DDHD2(NM_015214.2):c.930C>T (p.Y310=) - DDHD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.985C>T r.(?) p.(Arg329Ter) Both (homozygous) ACMG pathogenic g.38103396C>T g.38245878C>T - - DDHD2_000048 - - VCV000452548.8 rs201258800 Germline yes - - - - DNA SEQ-NG-I Blood Reconfirmed by Sanger sequencing SPG54 ANMD03 - 2 patients - yes Pakistan - - - - - 2 Sadaf Naz
+/. - c.1055T>A r.(?) p.(Leu352Ter) Unknown - pathogenic g.38103466T>A g.38245948T>A DDHD2(NM_015214.2):c.1055T>A (p.L352*) - DDHD2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8i c.1057+5C>G r.spl? p.? Both (homozygous) - likely pathogenic g.38103473C>G g.38245955C>G - - DDHD2_000003 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline yes - - - - DNA SEQ-NG - - SPG54 - - 4-generation family, 3 affecteds (2F, m), unaffected heterozygous carrier parents, patient WMD-1675-3-3 M yes - - - - - - 1 Karo Smeele
+?/. 8i c.1057+5C>G r.spl? p.? Both (homozygous) - likely pathogenic g.38103473C>G g.38245955C>G - - DDHD2_000003 - PubMed: Novarino 2014, Journal: Novarino 2014 - - Germline - - - - - DNA SEQ-NG - - SPG54 - PubMed: Novarino 2014, Journal: Novarino 2014 sister of WMD-1675-3-4 F yes - - - - added by student Iris van Schaik - 1 Johan den Dunnen
?/. - c.1061C>T r.(?) p.(Ser354Leu) Unknown - VUS g.38103754C>T - DDHD2(NM_015214.3):c.1061C>T (p.(Ser354Leu)) - DDHD2_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.1078del r.(?) p.(Ile360Serfs*2) Both (homozygous) - pathogenic g.38103771del g.38246253del - - DDHD2_000040 - - - - Germline yes - - - - DNA SEQ, SEQ-NG blood - MPS3B, SPG54 - - - F yes Turkey Turkish - - - - 2 Dilek Gün Bilgiç
-?/. - c.1127A>G r.(?) p.(Asp376Gly) Unknown - likely benign g.38105232A>G g.38247714A>G DDHD2(NM_015214.2):c.1127A>G (p.(Asp376Gly)) - DDHD2_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1168C>T r.(?) p.(Leu390=) Unknown - likely benign g.38105273C>T g.38247755C>T DDHD2(NM_015214.2):c.1168C>T (p.L390=) - DDHD2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(1248+1_1249-1)_(1891+1_1892-1)del r.? p.(Ala417Metfs*23) Both (homozygous) ACMG pathogenic (recessive) g.(38105354_38107225)_(38110646_38111073)del - 1249_1891del - DDHD2_000036 ACMG PVS1, PS4, PM2, PP1 PubMed: Alazami 2015, Journal: Alazami 2015, PubMed: Anazi 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES ? 13DG0583 PubMed: Alazami 2015, Journal: Alazami 2015, PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.(1248+1_1249-1)_(1891+1_1892-1)del r.? p.(Ala417Metfs*23) Both (homozygous) ACMG pathogenic (recessive) g.(38105354_38107225)_(38110646_38111073)del - 1249_1891del - DDHD2_000036 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - 758-gene panel ID 14DG0478 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - 1 Johan den Dunnen
?/. - c.1306A>C r.(?) p.(Lys436Gln) Unknown - VUS g.38107283A>C g.38249765A>C DDHD2(NM_001164232.1):c.1306A>C (p.(Lys436Gln)) - DDHD2_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1345-6C>G r.(=) p.(=) Unknown - VUS g.38109424C>G - DDHD2(NM_015214.2):c.1345-6C>G - DDHD2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1345-3dup r.spl? p.? Unknown - likely benign g.38109427dup g.38251909dup DDHD2(NM_001164232.1):c.1345-6_1345-5insT (p.?) - DDHD2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1386C>T r.(?) p.(Asn462=) Unknown - likely benign g.38109471C>T g.38251953C>T DDHD2(NM_015214.2):c.1386C>T (p.N462=) - DDHD2_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1477C>T r.(?) p.(Pro493Ser) Unknown - VUS g.38109665C>T g.38252147C>T DDHD2(NM_015214.2):c.1477C>T (p.P493S) - DDHD2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1541C>G r.(?) p.(Thr514Ser) Unknown - VUS g.38109729C>G g.38252211C>G DDHD2(NM_015214.3):c.1541C>G (p.T514S) - DDHD2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1618-25T>C r.(=) p.(=) Unknown - benign g.38110215T>C g.38252697T>C DDHD2(NM_015214.2):c.1618-25T>C - DDHD2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1662A>G r.(?) p.(Gly554=) Unknown - benign g.38110284A>G g.38252766A>G - - DDHD2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1687C>T r.(?) p.(Pro563Ser) Unknown - VUS g.38110309C>T g.38252791C>T DDHD2(NM_015214.3):c.1687C>T (p.P563S) - DDHD2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1720+1G>A r.spl? p.? Unknown - pathogenic g.38110343G>A g.38252825G>A - - DDHD2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1752G>A r.(?) p.(Met584Ile) Unknown - likely benign g.38110506G>A g.38252988G>A DDHD2(NM_001362912.1):c.1752G>A (p.M584I) - DDHD2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1803dup r.(?) p.(Thr602Tyrfs*18) Paternal (confirmed) - pathogenic g.38110557dup g.38253039dup 1804_1805insT - DDHD2_000035 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ID 24123876-FamW10-1338 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, affected sister/brother, unaffected carrier parents F;M no Netherlands - - - - - 2 Johan den Dunnen
+/. - c.1891+2dup r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.38110647dup g.38253129dup - - DDHD2_000044 ACMG PVS1,PM1,PM2 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel ID 16DG0325 PubMed: Anazi 2017 simplex case M - - - - - - - 1 Johan den Dunnen
-?/. - c.1923T>G r.(?) p.(Val641=) Unknown - likely benign g.38111105T>G - DDHD2(NM_001164232.1):c.1923T>G (p.V641=) - DDHD2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.1961A>G r.(?) p.(Asn654Ser) Paternal (confirmed) - pathogenic g.38111143A>G g.38253625A>G - - DDHD2_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.1961A>G r.(?) p.(Asn654Ser) Paternal (confirmed) - pathogenic g.38111143A>G g.38253625A>G - - DDHD2_000002 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
?/. - c.1972C>T r.(?) p.(Arg658Cys) Unknown - VUS g.38111154C>T g.38253636C>T DDHD2(NM_015214.2):c.1972C>T (p.R658C) - DDHD2_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1978G>C r.(?) p.(Asp660His) Unknown - VUS g.38111160G>C g.38253642G>C DDHD2(NM_001362912.1):c.1978G>C (p.D660H), DDHD2(NM_015214.2):c.1978G>C (p.D660H) - DDHD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1978G>C r.(?) p.(Asp660His) Unknown - likely pathogenic g.38111160G>C g.38253642G>C DDHD2(NM_001362912.1):c.1978G>C (p.D660H), DDHD2(NM_015214.2):c.1978G>C (p.D660H) - DDHD2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1978G>C r.(?) p.(Asp660His) Parent #2 - pathogenic (recessive) g.38111160G>C g.38253642G>C - - DDHD2_000025 - PubMed: Salinas 2020 SUB7801796 - Germline - - - - - DNA SEQ-NG - gene panel ? Pat62 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
?/. - c.1982A>G r.(?) p.(Tyr661Cys) Unknown - VUS g.38111164A>G g.38253646A>G DDHD2(NM_001362912.1):c.1982A>G (p.Y661C), DDHD2(NM_015214.3):c.1982A>G (p.(Tyr661Cys), p.Y661C) - DDHD2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1982A>G r.(?) p.(Tyr661Cys) Unknown - VUS g.38111164A>G g.38253646A>G DDHD2(NM_001362912.1):c.1982A>G (p.Y661C), DDHD2(NM_015214.3):c.1982A>G (p.(Tyr661Cys), p.Y661C) - DDHD2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1982A>G r.(?) p.(Tyr661Cys) Unknown - VUS g.38111164A>G - DDHD2(NM_001362912.1):c.1982A>G (p.Y661C), DDHD2(NM_015214.3):c.1982A>G (p.(Tyr661Cys), p.Y661C) - DDHD2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.2015A>G r.(?) p.(Asn672Ser) Maternal (confirmed) - pathogenic g.38111197A>G g.38253679A>G - - DDHD2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.2015A>G r.(?) p.(Asn672Ser) Maternal (confirmed) - pathogenic g.38111197A>G g.38253679A>G - - DDHD2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) F - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
+/. 16 c.2015A>G r.(?) p.(Asn672Ser) Both (homozygous) - pathogenic (recessive) g.38111197A>G - - - DDHD2_000001 - - - - Germline yes - - - - DNA SEQ blood - SPG54 - - - F yes Egypt - - - - - 1 Sherifa Ahmed Hamed
+?/. - c.2042A>T r.(?) p.(His681Leu) Unknown - likely pathogenic g.38111224A>T g.38253706A>T DDHD2(NM_001362912.2):c.2042A>T (p.H681L) - DDHD2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2047T>A r.(?) p.(Cys683Ser) Unknown - likely benign g.38111229T>A g.38253711T>A DDHD2(NM_015214.2):c.2047T>A (p.C683S) - DDHD2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2057del r.(?) p.(Glu686Glyfs*35) Maternal (confirmed) - pathogenic g.38117560del g.38260042del 2057delA - DDHD2_000034 - PubMed: Schuurs-Hoeijmakers 2013 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ID 24123876-FamW10-1338 PubMed: Schuurs-Hoeijmakers 2013 2-generation family, affected sister/brother, unaffected carrier parents F;M no Netherlands - - - - - 2 Johan den Dunnen
?/. - c.2065G>T r.(?) p.(Asp689Tyr) Both (homozygous) - VUS g.38117568G>T g.38260050G>T - - DDHD2_000051 - Journal: Paracha 2024 - - Germline yes - - - - DNA SEQ-NG, SEQ - WES NDD Fam9 Journal: Paracha 2024 2-generation family, 1 affected, heterozygous carrier parents/relatives M yes Pakistan - - - - - 1 Muhammad Umair
-/. - c.*2185C>A r.(=) p.(=) Unknown - benign g.38120276C>A g.38262758C>A - - PPAPDC1B_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6670G>A r.(=) p.(=) Unknown - likely benign g.38124761G>A - PLPP5(NM_001102560.1):c.487C>T (p.P163S) - PPAPDC1B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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