Full data view for gene DIAPH1

Information The variants shown are described using the NM_005219.4 transcript reference sequence.

137 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.-4718804_*17067894dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.35G>A r.(?) p.(Arg12His) Unknown - VUS g.140998447C>T - - - DIAPH1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.41C>T r.(?) p.(Thr14Ile) Unknown - likely benign g.140998441G>A g.141618874G>A DIAPH1(NM_001079812.2):c.41C>T (p.(Thr14Ile)) - DIAPH1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.117+14C>T r.(=) p.(=) Unknown - benign g.140998351G>A g.141618784G>A - - DIAPH1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.128G>A r.(?) p.(Arg43Gln) Parent #1 - VUS g.140967807C>T g.141588240C>T - - DIAPH1_000089 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.200C>T r.(?) p.(Ala67Val) Parent #1 - likely benign g.140966709G>A g.141587142G>A - - DIAPH1_000090 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs142480526 Germline - 2/2792 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.292C>G r.(?) p.(Gln98Glu) Unknown - VUS g.140966617G>C g.141587050G>C DIAPH1(NM_005219.4):c.292C>G (p.Q98E) - DIAPH1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.341G>A r.(?) p.(Arg114Lys) Unknown - VUS g.140963752C>T - DIAPH1(NM_001314007.1):c.341G>A (p.R114K) - DIAPH1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.402+12del r.(=) p.(=) Unknown - likely benign g.140963681del - DIAPH1(NM_005219.5):c.402+12delG - DIAPH1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.491G>A r.(?) p.(Cys164Tyr) Unknown - likely benign g.140963094C>T g.141583527C>T - - DIAPH1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 6i c.621-7T>C r.(=) p.(=) Parent #1 - likely benign g.140961949A>G g.141582382A>G - - DIAPH1_000088 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.628G>A r.(?) p.(Asp210Asn) Unknown - likely benign g.140961935C>T g.141582368C>T DIAPH1(NM_001314007.1):c.628G>A (p.D210N) - DIAPH1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 7 c.635G>A r.(?) p.(Arg212Gln) Parent #1 - VUS g.140961928C>T g.141582361C>T - - DIAPH1_000087 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.684+1G>A r.spl? p.? Unknown - pathogenic g.140961878C>T g.141582311C>T - - DIAPH1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685-10G>T r.(=) p.(=) Unknown - likely benign g.140960460C>A g.141580893C>A DIAPH1(NM_001314007.1):c.685-10G>T - DIAPH1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 8 c.687T>C r.(=) p.(=) Parent #1 - likely benign g.140960448A>G g.141580881A>G - - DIAPH1_000086 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.736A>G r.(?) p.(Arg246Gly) Unknown - likely benign g.140960399T>C - - - DIAPH1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.771T>G r.(?) p.(Ile257Met) Unknown - VUS g.140960364A>C - DIAPH1(NM_005219.5):c.771T>G (p.I257M) - DIAPH1_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 8 c.783G>A r.(=) p.(=) Parent #1 - likely benign g.140960352C>T g.141580785C>T - - DIAPH1_000085 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. 8 c.793G>T r.(?) p.(Ala265Ser) Paternal (confirmed) - pathogenic g.140960342C>A g.141580775C>A G793T - DIAPH1_000029 - - - - Germline yes - - - - DNA SEQ-NG-I whole blood WES HL - - - F no Korea, South (Republic) Korea 04y - - cochlear implant 2 Bong Jik Kim
?/. - c.881G>A r.(?) p.(Arg294His) Unknown - VUS g.140958707C>T - DIAPH1(NM_005219.5):c.881G>A (p.(Arg294His)) - DIAPH1_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.946C>G r.(?) p.(Gln316Glu) Unknown - VUS g.140958180G>C - - - DIAPH1_000101 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1015A>G r.(?) p.(Met339Val) Unknown - VUS g.140958111T>C - DIAPH1(NM_005219.5):c.1015A>G (p.M339V) - DIAPH1_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1038G>T r.(?) p.(=) Unknown - likely benign g.140958088C>A - DIAPH1(NM_005219.5):c.1038G>T (p.V346=) - DIAPH1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058T>C r.(?) p.(Ile353Thr) Unknown - likely benign g.140957897A>G g.141578330A>G - - DIAPH1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1079T>A r.(?) p.(Val360Glu) Unknown - VUS g.140957876A>T g.141578309A>T - - DIAPH1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1151G>A r.(?) p.(Arg384His) Unknown - VUS g.140957804C>T - DIAPH1(NM_005219.5):c.1151G>A (p.R384H) - DIAPH1_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1269C>G r.(?) p.(Asp423Glu) Unknown - VUS g.140957053G>C - DIAPH1(NM_005219.4):c.1269C>G (p.(Asp423Glu)) - DIAPH1_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1287G>C r.(?) p.(Gln429His) Unknown - likely benign g.140956432C>G - DIAPH1(NM_001314007.1):c.1287G>C (p.Q429H) - DIAPH1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1287G>C r.(?) p.(Gln429His) Unknown - VUS g.140956432C>G - DIAPH1(NM_001314007.1):c.1287G>C (p.Q429H) - DIAPH1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1292A>G r.(?) p.(Tyr431Cys) Unknown - likely benign g.140956427T>C g.141576860T>C - - DIAPH1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 13 c.1364G>A r.(?) p.(Arg455Gln) Parent #1 - VUS g.140956355C>T g.141576788C>T - - DIAPH1_000084 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1364G>A r.(?) p.(Arg455Gln) Unknown - likely benign g.140956355C>T g.141576788C>T - - DIAPH1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 13i c.1397-14C>T r.(=) p.(=) Parent #1 - likely benign g.140955875G>A g.141576308G>A - - DIAPH1_000083 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.1407T>C r.(?) p.(Ile469=) Unknown - likely benign g.140955851A>G - DIAPH1(NM_001314007.1):c.1407T>C (p.I469=) - DIAPH1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461+20G>A r.(=) p.(=) Unknown - benign g.140955777C>T g.141576210C>T DIAPH1(NM_005219.5):c.1461+20G>A - DIAPH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1461+20G>A r.(=) p.(=) Unknown - benign g.140955777C>T g.141576210C>T DIAPH1(NM_005219.5):c.1461+20G>A - DIAPH1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1462-4C>G r.spl? p.? Unknown - likely benign g.140954717G>C - DIAPH1(NM_005219.5):c.1462-4C>G - DIAPH1_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1478C>T r.(?) p.(Thr493Ile) Unknown - likely pathogenic (dominant) g.140954697G>A g.141575130G>A - - DIAPH1_000116 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL 3870 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
?/? 15 c.1523A>G r.(?) p.(Asp508Gly) Parent #1 - VUS g.140954652T>C g.141575085T>C - - DIAPH1_000082 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.1523A>G r.(?) p.(Asp508Gly) Unknown - VUS g.140954652T>C - DIAPH1(NM_005219.5):c.1523A>G (p.D508G) - DIAPH1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1736G>A r.(?) p.(Arg579His) Unknown - VUS g.140953681C>T g.141574114C>T DIAPH1(NM_001314007.1):c.1736G>A (p.R579H) - DIAPH1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1748C>G r.(?) p.(Pro583Arg) Unknown - likely benign g.140953669G>C - - - DIAPH1_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1769G>T r.(?) p.(Gly590Val) Unknown - likely benign g.140953648C>A - DIAPH1(NM_005219.5):c.1769G>T (p.G590V) - DIAPH1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1815T>C r.(?) p.(Ser605=) Unknown - likely benign g.140953602A>G - DIAPH1(NM_001314007.1):c.1815T>C (p.S605=) - DIAPH1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1839_1853dup r.(?) p.(Pro616_Pro620dup) Unknown - benign g.140953583_140953597dup g.141574016_141574030dup DIAPH1(NM_001314007.2):c.1839_1853dupTCCTCCTCCTCCTCC (p.P616_P620dup), DIAPH1(NM_005219.5):c.1833_1847dupTCCTCCTCCTCCTCC (p.P616_P620dup) - DIAPH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1839_1853dup r.(?) p.(Pro616_Pro620dup) Unknown - likely benign g.140953583_140953597dup - DIAPH1(NM_001314007.2):c.1839_1853dupTCCTCCTCCTCCTCC (p.P616_P620dup), DIAPH1(NM_005219.5):c.1833_1847dupTCCTCCTCCTCCTCC (p.P616_P620dup) - DIAPH1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1845_1853del r.(?) p.(Pro618_Pro620del) Unknown - VUS g.140953589_140953597del - DIAPH1(NM_001314007.1):c.1845_1853delTCCTCCTCC (p.P618_P620del), DIAPH1(NM_005219.5):c.1845_1853delTCCTCCTCC (p.P618_P620del) - DIAPH1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1845_1853del r.(?) p.(Pro618_Pro620del) Unknown - VUS g.140953589_140953597del - DIAPH1(NM_001314007.1):c.1845_1853delTCCTCCTCC (p.P618_P620del), DIAPH1(NM_005219.5):c.1845_1853delTCCTCCTCC (p.P618_P620del) - DIAPH1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1845_1853dup r.(?) p.(Pro618_Pro620dup) Unknown - likely benign g.140953589_140953597dup - DIAPH1(NM_005219.5):c.1839_1847dupTCCTCCTCC (p.P618_P620dup) - DIAPH1_000110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1845_1853dup r.(?) p.(Pro618_Pro620dup) Unknown - likely benign g.140953589_140953597dup - - - DIAPH1_000110 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848_1853del r.(?) p.(Pro619_Pro620del) Unknown - likely benign g.140953592_140953597del g.141574025_141574030del DIAPH1(NM_005219.4):c.1848_1853delTCCTCC (p.P619_P620del) - DIAPH1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848_1853dup r.(?) p.(Pro619_Pro620dup) Unknown - likely benign g.140953592_140953597dup g.141574025_141574030dup DIAPH1(NM_005219.4):c.1848_1853dupTCCTCC (p.P619_P620dup), DIAPH1(NM_005219.5):c.1842_1847dupTCCTCC (p.P619_P620dup), DIAPH1(NM_005219.5):c.1848_18... - DIAPH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1848_1853dup r.(?) p.(Pro619_Pro620dup) Unknown - benign g.140953592_140953597dup g.141574025_141574030dup DIAPH1(NM_005219.4):c.1848_1853dupTCCTCC (p.P619_P620dup), DIAPH1(NM_005219.5):c.1842_1847dupTCCTCC (p.P619_P620dup), DIAPH1(NM_005219.5):c.1848_18... - DIAPH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1848_1853dup r.(?) p.(Pro619_Pro620dup) Unknown - likely benign g.140953592_140953597dup - DIAPH1(NM_005219.4):c.1848_1853dupTCCTCC (p.P619_P620dup), DIAPH1(NM_005219.5):c.1842_1847dupTCCTCC (p.P619_P620dup), DIAPH1(NM_005219.5):c.1848_18... - DIAPH1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1851_1853del r.(?) p.(Pro620del) Unknown - benign g.140953595_140953597del g.141574028_141574030del DIAPH1(NM_005219.4):c.1851_1853delTCC (p.P620del), DIAPH1(NM_005219.5):c.1851_1853delTCC (p.P620del) - DIAPH1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1851_1853del r.(?) p.(Pro620del) Unknown - benign g.140953595_140953597del g.141574028_141574030del DIAPH1(NM_005219.4):c.1851_1853delTCC (p.P620del), DIAPH1(NM_005219.5):c.1851_1853delTCC (p.P620del) - DIAPH1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1851_1853dup r.(?) p.(Pro620dup) Unknown - likely benign g.140953595_140953597dup - DIAPH1(NM_005219.5):c.1851_1853dupTCC (p.P620dup) - DIAPH1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1964C>A r.(?) p.(Pro655His) Unknown - VUS g.140953453G>T g.141573886G>T DIAPH1(NM_001079812.2):c.1937C>A (p.(Pro646His)) - DIAPH1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1964C>G r.(?) p.(Pro655Arg) Unknown - VUS g.140953453G>C g.141573886G>C DIAPH1(NM_001314007.1):c.1964C>G (p.P655R) - DIAPH1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2036C>T r.(?) p.(Pro679Leu) Unknown - VUS g.140953381G>A - DIAPH1(NM_005219.5):c.2036C>T (p.P679L) - DIAPH1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2036C>T r.(?) p.(Pro679Leu) Unknown - VUS g.140953381G>A - DIAPH1(NM_005219.5):c.2036C>T (p.P679L) - DIAPH1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2056_2094del r.(?) p.(Arg686_Ala698del) Unknown - VUS g.140953344_140953382del - DIAPH1(NM_005219.5):c.2056_2094del (p.(Arg686_Ala698del)) - DIAPH1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 16 c.2099T>A r.(?) p.(Ile700Asn) Parent #1 - likely pathogenic g.140953318A>T g.141573751A>T - - DIAPH1_000081 - MORL Deafness Variation Database, PubMed: Ji 2014 - - SUMMARY record - - - - - DNA ? - - deafness - PubMed: Ji 2014 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.2107C>G r.(?) p.(Pro703Ala) Unknown - likely benign g.140953310G>C g.141573743G>C DIAPH1(NM_001314007.1):c.2107C>G (p.P703A) - DIAPH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2107C>G r.(?) p.(Pro703Ala) Unknown - likely benign g.140953310G>C g.141573743G>C DIAPH1(NM_001314007.1):c.2107C>G (p.P703A) - DIAPH1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2111C>T r.(?) p.(Pro704Leu) Unknown - VUS g.140953306G>A - DIAPH1(NM_005219.5):c.2111C>T (p.P704L) - DIAPH1_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2156C>T r.(?) p.(Pro719Leu) Unknown ACMG VUS g.140953261G>A g.141573694G>A - - DIAPH1_000096 ACMG BP4 PubMed: Kim 2022, Journal: Kim 2022 - - Germline/De novo (untested) - - - - - DNA SEQ-NG-I - - HL SB211-413 PubMed: Kim 2022, Journal: Kim 2022 - - - Korea, South (Republic) - - - - - 1 So Young Kim
?/. - c.2162C>A r.(?) p.(Pro721His) Unknown - VUS g.140953255G>T g.141573688G>T DIAPH1(NM_001079812.2):c.2135C>A (p.(Pro712His)) - DIAPH1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2224C>G r.(?) p.(Pro742Ala) Unknown - VUS g.140953193G>C - DIAPH1(NM_005219.5):c.2224C>G (p.P742A) - DIAPH1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2243C>T r.(?) p.(Pro748Leu) Unknown - VUS g.140953174G>A - DIAPH1(NM_005219.5):c.2243C>T (p.(Pro748Leu)) - DIAPH1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2317T>C r.(?) p.(Tyr773His) Unknown - VUS g.140953100A>G - - - DIAPH1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 16 c.2332C>T r.(?) p.(Gln778*) Both (homozygous) - pathogenic g.140953085G>A g.141573518G>A g.45538C>T - DIAPH1_000001 NOTE: submission included all homozygous variants but these have not yet been uploaded. Author submitted to EJHG - - Germline yes - - - - DNA SEQ-NG-I - - - - - microcephaly, intellectual disability, seizures, short stature, blindness F yes Saudi Arabia Arabic - - - - 1 Adife Ercan-Sencicek
+/. - c.2332C>T r.(?) p.(Gln778Ter) Unknown - pathogenic g.140953085G>A g.141573518G>A - - DIAPH1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 16 c.2332C>T r.(?) p.(Gln778*) Parent #1 - pathogenic g.140953085G>A g.141573518G>A - - DIAPH1_000001 - MORL Deafness Variation Database, PubMed: Alazami 2015, PubMed: Ercan-Sencicek 2015, PubMed: Michelson 2011 - - SUMMARY record - - - - - DNA ? - - microcephaly - PubMed: Alazami 2015, PubMed: Ercan-Sencicek 2015, PubMed: Michelson 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2332C>T r.(?) p.(Gln778*) Both (homozygous) ACMG pathogenic g.140953085G>A g.141573518G>A NM_001079812.2:c.2305C>T - DIAPH1_000001 ACMG PVS1, PM2, PP1 PubMed: Anazi 2017 - - Germline - - - - - DNA SEQ-NG - WES ID 12DG1546 PubMed: Anazi 2017 familial F yes Saudi Arabia - - - - - 1 Johan den Dunnen
-?/. - c.2358+6del r.(=) p.(=) Unknown - likely benign g.140953053del g.141573486del DIAPH1(NM_001314007.1):c.2358+6delA - DIAPH1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2437G>A r.(?) p.(Ala813Thr) Unknown - VUS g.140951529C>T - DIAPH1(NM_005219.5):c.2437G>A (p.A813T) - DIAPH1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 18i c.2482+1G>T r.spl p.? Unknown - pathogenic g.140950994C>A g.141571427C>A - - DIAPH1_000002 - PubMed: Sommen 2016, Journal: Sommen 2016 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - DFNB;ARNSHL - PubMed: Sommen 2016, Journal: Sommen 2016 - - - - - - - - - 1 Manou Sommen
-/. - c.2482+10545dup r.(=) p.(=) Unknown - benign g.140940456dup g.141560889dup DIAPH1(NM_005219.5):c.2482+10545dupA, DIAPH1-AS1(NR_038333.1):n.178-913dupT - DIAPH1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2525A>C r.(?) p.(Gln842Pro) Unknown - VUS g.140913958T>G g.141534391T>G DIAPH1(NM_001079812.2):c.2498A>C (p.(Gln833Pro)) - DIAPH1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 19 c.2525A>G r.(?) p.(Gln842Arg) Parent #1 - VUS g.140913958T>C g.141534391T>C - - DIAPH1_000080 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/? 20 c.2672T>C r.(?) p.(Ile891Thr) Parent #1 - VUS g.140909174A>G g.141529607A>G - - DIAPH1_000079 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2685T>G r.(?) p.(Ile895Met) Unknown - VUS g.140908832A>C - DIAPH1(NM_005219.5):c.2685T>G (p.I895M) - DIAPH1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 21 c.2769del r.(?) p.(Phe923Leufs*4) Parent #1 - pathogenic g.140908750del g.141529183del - - DIAPH1_000078 - MORL Deafness Variation Database, PubMed: Al-Maawali 2016 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Al-Maawali 2016 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.2848G>A r.(?) p.(Val950Met) Unknown - VUS g.140908439C>T - DIAPH1(NM_005219.5):c.2848G>A (p.V950M) - DIAPH1_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/-? 22 c.2924A>G r.(?) p.(Asn975Ser) Parent #1 - likely benign g.140908363T>C g.141528796T>C - - DIAPH1_000077 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3032A>G r.(?) p.(Lys1011Arg) Unknown - VUS g.140908136T>C g.141528569T>C DIAPH1(NM_001079812.2):c.3005A>G (p.(Lys1002Arg)) - DIAPH1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 23 c.3050T>C r.(?) p.(Met1017Thr) Parent #1 - VUS g.140908118A>G g.141528551A>G - - DIAPH1_000076 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 23 c.3054G>A r.(=) p.(=) Parent #1 - likely benign g.140908114C>T g.141528547C>T - - DIAPH1_000075 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 23 c.3096C>T r.(=) p.(=) Parent #1 - likely benign g.140908072G>A g.141528505G>A - - DIAPH1_000074 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
-?/-? 23 c.3099T>C r.(=) p.(=) Parent #1 - likely benign g.140908069A>G g.141528502A>G - - DIAPH1_000073 - MORL Deafness Variation Database, PubMed: Duzkale 2013 - - SUMMARY record - - - - - DNA ? - - - - PubMed: Duzkale 2013 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3127C>T r.(?) p.(His1043Tyr) Unknown - VUS g.140908041G>A g.141528474G>A DIAPH1(NM_001079812.2):c.3100C>T (p.(His1034Tyr)) - DIAPH1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3128A>G r.(?) p.(His1043Arg) Unknown - likely pathogenic (dominant) g.140908040T>C g.141528473T>C - - DIAPH1_000115 - PubMed: Boucher 2020 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - HL PAR136 PubMed: Boucher 2020 - - - France - - - - - 1 Johan den Dunnen
+/+ 23 c.3145C>T r.(?) p.(Arg1049*) Parent #1 - pathogenic g.140908023G>A g.141528456G>A - - DIAPH1_000072 - MORL Deafness Variation Database, PubMed: Al-Maawali 2016 - - SUMMARY record - - - - - DNA ? - - ? - PubMed: Al-Maawali 2016 - - - - - - - - - 1 Global Variome, with Curator vacancy
?/. - c.3148G>T r.(?) p.(Val1050Phe) Unknown - VUS g.140908020C>A g.141528453C>A - - DIAPH1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3149-14_3149-3dup r.spl? p.? Unknown - likely benign g.140907278_140907289dup g.141527711_141527722dup DIAPH1(NM_001079812.2):c.3122-3_3122-2insTTTTTTTTTTTT (p.?) - DIAPH1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3149-13_3149-3dup r.spl? p.? Unknown - likely benign g.140907279_140907289dup g.141527712_141527722dup DIAPH1(NM_001079812.2):c.3122-3_3122-2insTTTTTTTTTTT (p.?) - DIAPH1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3149-12_3149-3dup r.spl? p.? Unknown - likely benign g.140907280_140907289dup g.141527713_141527722dup DIAPH1(NM_001079812.2):c.3122-3_3122-2insTTTTTTTTTT (p.?) - DIAPH1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3149-11_3149-3dup r.spl? p.? Unknown - likely benign g.140907281_140907289dup g.141527714_141527722dup DIAPH1(NM_001079812.2):c.3122-3_3122-2insTTTTTTTTT (p.?) - DIAPH1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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