HPO

VIP

VKGL

ClinVar variant

NA12878

20 records
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PositionReferenceProbandEffectGeneInh.Pat.HPOHGVS CHGVS PCAPICEVIPVKGLClinVar var…gnomAD AFgnomAD HNPubMed
chr5:178153531CC/Tmissense_variantNHP2ARHP:0000118c.190G>Ap.Val64Met0.9298LPVUS0.00040citations (2)
chr19:32676869CC/CGframeshift_variantRGS9BPARHP:0000118c.614dupp.Cys206LeufsTer940.8981LPVUS0.00020citations (2)
chr8:67422547GG/Amissense_variantCPA6ARHP:0000118c.1271C>Tp.Ala424Val0.8716LPVUSVUS0.00020citations (2)
chr9:2096706AA/Tmissense_variantSMARCA2IPADHP:0000118c.2933A>Tp.Tyr978Phe0.8258LPVUS
chr4:169477323AA/Cmissense_variantNEK1ARHP:0000118c.1929T>Gp.Asn643Lys0.7929LPConflict0.00412citations (2)
chr8:11845732CC/Gmissense_variantCTSBADHP:0000118c.851G>Cp.Gly284Ala0.7862LP0.00000
chr5:90855813CC/Gnon_coding_transcript_exon_variantADGRV1ARHP:0000118n.17683C>G0.7741VUSVUSVUS0.00000
chr10:26088402CC/Tmissense_variantMYO3AARHP:0000118c.1559C>Tp.Ala520Val0.7379LPVUSConflict0.00210citations (1)
chr11:121157872CC/Gmissense_variantTECTAAD, ARHP:0000118c.4337C>Gp.Thr1446Arg0.6716LPVUS0.00000
chr15:84895080CC/CTTGinframe_insertionSLC28A1ARHP:0000118c.419_420insTGTp.Leu140_Lys141ins…0.5863LP
chr15:71256656CC/Tmissense_variantTHSD4ADHP:0000118c.956C>Tp.Ala319Val0.5790LP0.00000
chr5:75379425TT/Cmissense_variantCERT1IPADHP:0000118c.2180A>Gp.Lys727Arg0.5705LP0.00000
chrX:153909599GGC/GCdownstream_gene_variantAVPR2XLHP:00001180.4930VUS
chr16:285708GG/Asplice_donor_5th_base_variant, PDIA2c.1119+5G>A0.3051VUSVUS0.00070
chr3:10992891ATA/A5_prime_UTR_variantSLC6A1ADHP:0000118c.-253del0.0643VUS
chr5:151339038CC/Tintron_variantSLC36A2AD, ARHP:0000118c.525+22G>A0.0129VUS0.00020
chr2:219279389AA/C5_prime_UTR_variantDNAJB2ARHP:0000118c.-166A>C0.0084VUS0.00383
chr1:156158429TT/C5_prime_UTR_variantSEMA4AARHP:0000118c.-120T>C0.0030VUSConflict0.00040
chr19:5041113GG/Aintron_variantKDM4BADHP:0000118c.318-24G>A0.0028VUS0.00000
chr3:165074510TT/Cintron_variantSIARHP:0000118c.255+21A>G0.0014VUS0.00000
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