Full data view for gene USP9Y

Information The variants shown are described using the NM_004654.3 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.-322073_*34508del r.0? p.0? Unknown - pathogenic g.14492032_15005849del g.12380223_12894040del AZFa deletion - USP9Y_000011 AZFa deletion (G66183+, sY86_USP9Ydel, sY87+) PubMed: Luddy 2009 - - Unknown - - - - - DNA PCR - - ? - PubMed: Luddi 2009 father of II1/2 M - Italy - - - - - 3 Johan den Dunnen
./. - c.-322073_*34508del r.0? p.0? Paternal (confirmed) - pathogenic g.14492032_15005849del g.12380223_12894040del AZFa deletion - USP9Y_000011 513,594 bp AZFa deletion (G66183+, sY86_USP9Ydel, sY87+), breakpoint sequenced; Y-haplotype P*(xR1a) PubMed: Luddy 2009 - - Germline ? - - - - DNA PCR - - ? - PubMed: Luddi 2009 son of I1, brother of II2 M no Italy - - - - - 1 Johan den Dunnen
+/? - c.-322073_*34508del r.0? p.0? Paternal (confirmed) - pathogenic g.14492032_15005849del g.12380223_12894040del AZFa deletion - chrY_000088 AZFa deletion (G66183+, sY86_USP9Ydel, sY87+) PubMed: Luddy 2009 - - Germline - - - - - DNA PCR - - Healthy/Control - PubMed: Luddi 2009 son of I1, brother of II1 M - Italy - - - - - 1 Johan den Dunnen
?/. - c.-945_*1427[2] r.? p.? Unknown - VUS g.(?_12537650)_(12860839_?)dup - 12,537,650-12,860,839dup - USP9Y_000034 complete gene duplication detected by MLPA - - - Germline/De novo (untested) - - - - - DNA MLPA - - SPGF4 - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.112T>A r.(?) p.(Ser38Thr) Unknown - likely benign g.14832537T>A g.12720604T>A USP9Y(NM_004654.3):c.112T>A (p.(Ser38Thr)) - USP9Y_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.195G>T r.(?) p.(Glu65Asp) Both (homozygous) - VUS g.14832620G>T g.12720687G>T - - USP9Y_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.245+3G>C r.spl? p.? Unknown - VUS g.14832673G>C g.12720740G>C USP9Y(NM_004654.3):c.245+3G>C - USP9Y_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.286G>A r.(?) p.(Glu96Lys) Unknown - likely pathogenic (dominant) g.14834081G>A g.12722148G>A - - USP9Y_000046 variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU49 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
+?/. - c.286G>A r.(?) p.(Glu96Lys) Unknown - likely pathogenic (dominant) g.14834081G>A g.12722148G>A - - USP9Y_000046 variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU50 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
?/. - c.381A>G r.(?) p.(Ile127Met) Unknown - VUS g.14837101A>G g.12725168A>G USP9Y(NM_004654.3):c.381A>G (p.I127M) - USP9Y_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.383C>A r.(?) p.(Ser128Tyr) Unknown - VUS g.14837103C>A g.12725170C>A USP9Y(NM_004654.3):c.383C>A (p.S128Y) - USP9Y_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.423G>A r.(?) p.(Trp141Ter) Unknown - likely pathogenic g.14837143G>A g.12725210G>A USP9Y(NM_004654.3):c.423G>A (p.W141*) - USP9Y_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 8i c.773+3_773+6del r.658_773del p.Gly220Thrfs*7 Paternal (inferred) - pathogenic g.14847664_14847667del g.12735730_12735733del - - USP9Y_000010 not in 96 control chromosomes; not present in healthy brother PubMed: Sun 1999, OMIM:var0001 - - De novo ? 1/576 cases - - - DNA, RNA DHPLC, RT-PCR, SSCA, SEQ - - SPGFY2 - PubMed: Sun 1999 - M - United States - - - - - 1 Johan den Dunnen
+?/. - c.1385C>G r.(?) p.(Ser462Cys) Unknown - likely pathogenic (dominant) g.14851526C>G g.12739592C>G - - USP9Y_000047 variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU109 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
+?/. - c.1385C>G r.(?) p.(Ser462Cys) Unknown - likely pathogenic (dominant) g.14851526C>G g.12739592C>G - - USP9Y_000047 variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU73 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
+?/. - c.1385C>G r.(?) p.(Ser462Cys) Unknown - likely pathogenic (dominant) g.14851526C>G g.12739592C>G - - USP9Y_000047 variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU13 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
+?/. - c.1385C>G r.(?) p.(Ser462Cys) Unknown - likely pathogenic (dominant) g.14851526C>G g.12739592C>G - - USP9Y_000047 variant not in male controls PubMed: Chen 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WGS ? PatU71 PubMed: Chen 2024 - M - China Asia-E - - - - 1 Johan den Dunnen
?/. - c.1675G>A r.(?) p.(Glu559Lys) Unknown - VUS g.14870481G>A g.12758551G>A USP9Y(NM_004654.3):c.1675G>A (p.E559K) - USP9Y_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1682G>A r.(?) p.(Arg561His) Unknown - VUS g.14870488G>A g.12758558G>A USP9Y(NM_004654.3):c.1682G>A (p.(Arg561His)) - USP9Y_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1726G>C r.(?) p.(Glu576Gln) Unknown - VUS g.14870532G>C g.12758602G>C USP9Y(NM_004654.3):c.1726G>C (p.E576Q) - USP9Y_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1778G>A r.(?) p.(Arg593Gln) Unknown - VUS g.14872425G>A g.12760495G>A USP9Y(NM_004654.3):c.1778G>A (p.R593Q) - USP9Y_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2661C>T r.(?) p.(Leu887=) Unknown - likely benign g.14889974C>T - USP9Y(NM_004654.3):c.2661C>T (p.L887=) - USP9Y_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 22 c.3106C>T r.(?) p.(Pro1036Ser) Paternal (inferred) - likely benign g.14891535C>T g.12779601C>T - - USP9Y_000009 not in 96 control chromosomes PubMed: Sun 1999 - - Germline - 1/576 cases - - - DNA DHPLC, SSCA, SEQ - - INFM - PubMed: Sun 1999 - M - United States - - - - - 1 Johan den Dunnen
-/? 23 c.3178G>A r.(?) p.(Ala1060Thr) Paternal (inferred) - benign g.14898163G>A g.12786229G>A - - USP9Y_000008 - PubMed: Sun 1999 - - Unknown - 3/576 cases - - - DNA DHPLC, SSCA, SEQ - - INFM - PubMed: Sun 1999 infertile males M - United States - - - - - 3 Johan den Dunnen
-/? 23 c.3178G>A r.(?) p.(Ala1060Thr) Paternal (inferred) - benign g.14898163G>A g.12786229G>A - - USP9Y_000008 - PubMed: Sun 1999 - - Unknown - 1/96 controls - - - DNA DHPLC, SSCA, SEQ - - Healthy/Control - PubMed: Sun 1999 fertile males M - United States - - - - - 1 Johan den Dunnen
?/. - c.3186_3189del r.(?) p.(Cys1062TrpfsTer30) Unknown - VUS g.14898171_14898174del g.12786237_12786240del USP9Y(NM_004654.3):c.3186_3189delTTTG (p.C1062Wfs*30) - USP9Y_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3283-72G>A r.(=) p.(=) Both (homozygous) - VUS g.14898383G>A g.12786450G>A - - USP9Y_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/? 25 c.3636G>A r.(?) p.(=) Paternal (inferred) - benign g.14902414G>A g.12790481G>A - - USP9Y_000007 - PubMed: Sun 1999 - - Germline - 12/576 cases - - - DNA DHPLC, SSCA, SEQ - - INFM - PubMed: Sun 1999 infertile males M - United States - - - - - 12 Johan den Dunnen
-/? 25 c.3636G>A r.(?) p.(=) Paternal (inferred) - benign g.14902414G>A g.12790481G>A - - USP9Y_000007 - PubMed: Sun 1999 - - Unknown - 1/96 controls - - - DNA DHPLC, SSCA, SEQ - - Healthy/Control - PubMed: Sun 1999 fertile males M - United States - - - - - 1 Johan den Dunnen
-?/? 25 c.3670C>T r.3562_3687del p.Ile1188_Glu1229del Paternal (inferred) - likely benign g.14902448C>T g.12790515C>T - - USP9Y_000006 not in 96 control chromosomes PubMed: Sun 1999 - - Germline no 1/576 cases - - - DNA, RNA DHPLC, SSCA, SEQ - - INFM - PubMed: Sun 1999 unaffected brother WHT3394b M - United States - - - - - 1 Johan den Dunnen
-?/? 25 c.3670C>T r.3562_3687del p.Ile1188_Glu1229del Paternal (inferred) - likely benign g.14902448C>T g.12790515C>T - - USP9Y_000006 - PubMed: Sun 1999 - - Germline no - - - - DNA, RNA DHPLC, SSCA, SEQ - - Healthy/Control - PubMed: Sun 1999 fertile brother of WHT3394 M - United States - - - - - 1 Johan den Dunnen
-?/. - c.4182C>G r.(?) p.(Asn1394Lys) Unknown - likely benign g.14922696C>G g.12810761C>G USP9Y(NM_004654.3):c.4182C>G (p.N1394K) - USP9Y_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4759A>G r.(?) p.(Ile1587Val) Unknown - likely benign g.14928208A>G g.12816273A>G USP9Y(NM_004654.3):c.4759A>G (p.I1587V) - USP9Y_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4847G>A r.(?) p.(Arg1616Gln) Unknown - likely benign g.14930371G>A g.12818436G>A USP9Y(NM_004654.3):c.4847G>A (p.R1616Q) - USP9Y_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5022-2dup r.spl? p.? Unknown - likely benign g.14945612dup g.12833686dup USP9Y(NM_004654.3):c.5022-2dupA - USP9Y_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.5138G>A r.(?) p.(Ser1713Asn) Unknown - benign g.14945730G>A g.12833804G>A USP9Y(NM_004654.3):c.5138G>A (p.S1713N) - USP9Y_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.5919G>A r.(?) p.(Glu1973=) Unknown - likely benign g.14952371G>A g.12840445G>A USP9Y(NM_004654.3):c.5919G>A (p.E1973=) - USP9Y_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.5987del r.(?) p.(Asn1996Metfs*2) Unknown - pathogenic g.14952439del - USP9Y(NM_004654.3):c.5987delA (p.N1996Mfs*2) - USP9Y_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6438+26dup r.(=) p.(=) Both (homozygous) - VUS g.14954417dup g.12842491dup - - USP9Y_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.6438+26dup r.(=) p.(=) Both (homozygous) - VUS g.14954417dup g.12842491dup - - USP9Y_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.6569-40C>T r.(=) p.(=) Both (homozygous) - VUS g.14958218C>T g.12846293= - - USP9Y_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.6569-40C>T r.(=) p.(=) Both (homozygous) - VUS g.14958218C>T g.12846293= - - USP9Y_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.6712C>T r.(?) p.(Arg2238Cys) Unknown - VUS g.14958401C>T - USP9Y(NM_004654.3):c.6712C>T (p.R2238C) - USP9Y_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6942C>G r.(?) p.(Phe2314Leu) Unknown - VUS g.14959045C>G g.12847120C>G USP9Y(NM_004654.3):c.6942C>G (p.F2314L) - USP9Y_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.6961G>A r.(?) p.(Glu2321Lys) Both (homozygous) - VUS g.14959064G>A - - - USP9Y_000045 - PubMed: Zhang 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES RP Fam1PatIV2 PubMed: Zhang 2018 6 generation family, 1 affected, unaffected heterozygous carrier parents/relatives M yes China - - - - - 1 Johan den Dunnen
-?/. - c.7003C>T r.(?) p.(Arg2335Trp) Unknown - likely benign g.14959191C>T - USP9Y(NM_004654.3):c.7003C>T (p.R2335W) - USP9Y_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7142A>G r.(?) p.(Tyr2381Cys) Unknown - VUS g.14968342A>G g.12856417A>G USP9Y(NM_004654.3):c.7142A>G (p.Y2381C) - USP9Y_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7491C>T r.(?) p.(Ala2497=) Unknown - likely benign g.14969547C>T g.12857622C>T USP9Y(NM_004654.3):c.7491C>T (p.A2497=) - USP9Y_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.7493C>G r.(?) p.(Pro2498Arg) Unknown - VUS g.14969549C>G g.12857624C>G USP9Y(NM_004654.3):c.7493C>G (p.(Pro2498Arg)) - USP9Y_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.7607G>A r.(?) p.(Arg2536Gln) Unknown - likely benign g.14971280G>A g.12859355G>A USP9Y(NM_004654.3):c.7607G>A (p.R2536Q) - USP9Y_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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