8192[geneid] - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 1545601.	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3 GRCh37: Chr19:259395-6795622 GRCh38: Chr19:259395-6795611	ABCA7, ABHD17A, ACER1, ACSBG2, ADAMTSL5, ADAT3, ALKBH7, AMH, ANKRD24, AP3D1, APBA3, APC2, ARHGAP45, ARID3A, ARRDC5, ATCAY, ATP5F1D, ATP8B3, AZU1, BSG, BSG-AS1, BTBD2, C19orf25, C2CD4C, C3, CACTIN, CACTIN-AS1, CAPS, CATSPERD, CBARP, CBARP-DT, CD70, CDC34, CELF5, CFD, CHAF1A, CIMAP1D, CIRBP, CIRBP-AS1, CLPP, CNN2, CRB3, CREB3L3, CSNK1G2, CSNK1G2-AS1, DAPK3, DAZAP1, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, EFNA2, ELANE, FAM174C, FEM1A, FGF22, FSD1, FSTL3, FUT3, FUT5, FUT6, FZR1, GADD45B, GAMT, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GPX4, GRIN3B, GTF2F1, GZMM, HCN2, HDGFL2, HMG20B, HSD11B1L, IZUMO4, JSRP1, KDM4B, KHSRP, KISS1R, KLF16, LINC01775, LINGO3, LMNB2, LOC100288123, LOC101928450, LOC101928844, LOC105372244, LOC105372253, LOC105372255, LOC106804547, LOC108254692, LOC108281123, LOC108348031, LOC108783649, LOC110006317, LOC110006318, LOC111413035, LOC111556134, LOC111721712, LOC111828491, LOC111828495, LOC112543439, LOC112543440, LOC112543441, LOC112543443, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC113939966, LOC113939970, LOC113939971, LOC113939974, LOC116276493, LOC116276494, LOC116276495, LOC116276496, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC121627842, LOC121627843, LOC121627844, LOC121627845, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121852971, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC125371444, LOC125371446, LOC125371447, LOC125371448, LOC125371449, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC125371465, LOC126862835, LOC126862836, LOC126862837, LOC126862838, LOC126862839, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC128772422, LOC128772423, LOC128772424, LOC128900001, LOC390877, LONP1, LRG1, LSM7, MADCAM1, MADCAM1-AS1, MAP2K2, MATK, MBD3, MED16, MEX3D, MFSD12, MICOS13, MIDN, MIER2, MIR1227, MIR1909, MIR3187, MIR3940, MIR4321, MIR4745, MIR4746, MIR4747, MIR637, MIR6789, MIR6790, MIR6791, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MISP, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MYDGF, NCLN, NDUFA11, NDUFS7, NFIC, NMRK2, NRTN, OAZ1, ONECUT3, PALM, PCSK4, PEAK3, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PLK5, PLPP2, PLPPR3, POLR2E, POLRMT, PRR22, PRSS57, PRTN3, PSPN, PTBP1, PTPRS, PWWP3A, R3HDM4, RANBP3, RANBP3-DT, RAX2, REEP6, REXO1, RFX2, RNF126, RNU6-2, RNU6-9, RPL36, RPS15, S1PR4, SAFB, SAFB2, SBNO2, SCAMP4, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHC2, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNORD37, SPMAP2, SPPL2B, STAP2, STK11, TBXA2R, TCF3, TEKTIP1, THOP1, TICAM1, TIMM13, TINCR, TJP3, TLE2, TLE5, TLE6, TMEM259, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TPGS1, TRF-GAA1-6, TRG-TCC1-1, TRIP10, TRN-GTT2-6, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, UQCR11, VAV1, VMAC, WDR18, YJU2, ZBTB7A, ZFR2, ZNF554, ZNF555, ZNF556, ZNF57, ZNF77, ZNRF4		See cases	Pathogenic (Feb 11, 2011)	no assertion criteria provided
Select item 590822.	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3 GRCh37: Chr19:1972244-9759555 GRCh38: Chr19:1972245-9648879	ACER1, ACSBG2, ACTL9, ADAMTS10, ADGRE1, ALKBH7, AMH, ANGPTL4, ANKRD24, AP3D1, APBA3, ARHGEF18, ARRDC5, ATCAY, BTBD2, C3, CACTIN, CACTIN-AS1, CAMSAP3, CAPS, CATSPERD, CCL25, CD209, CD320, CD70, CELF5, CERS4, CHAF1A, CLEC4G, CLEC4M, CLPP, CRB3, CREB3L3, CSNK1G2, CTXN1, DAPK3, DENND1C, DIRAS1, DOHH, DOT1L, DPP9, DPP9-AS1, DUS3L, EBI3, EEF2, ELAVL1, EVI5L, FBN3, FCER2, FEM1A, FSD1, FUT3, FUT5, FUT6, FZR1, GADD45B, GIPC3, GNA11, GNA15, GNA15-DT, GNG7, GPR108, GTF2F1, HDGFL2, HMG20B, HNRNPM, HSD11B1L, INSR, IZUMO4, JSRP1, KANK3, KDM4B, KHSRP, LINC01775, LINGO3, LMNB2, LOC101928844, LOC105372244, LOC105372253, LOC105372255, LOC106804547, LOC108348031, LOC108783649, LOC111413022, LOC111556134, LOC111721712, LOC111828491, LOC111828495, LOC112543475, LOC112543476, LOC112543477, LOC112543480, LOC112543481, LOC112543482, LOC112543490, LOC112552148, LOC112552174, LOC112552175, LOC112552176, LOC112577455, LOC112577456, LOC112577457, LOC112577458, LOC113939970, LOC113939971, LOC113939974, LOC116276497, LOC116276498, LOC116276499, LOC116276500, LOC117282006, LOC117307477, LOC117307478, LOC121627846, LOC121627847, LOC121627848, LOC121627849, LOC121627850, LOC121627851, LOC121627852, LOC121627853, LOC121627854, LOC121627855, LOC121852972, LOC121852973, LOC121852974, LOC121852975, LOC121852976, LOC125371450, LOC125371451, LOC125371452, LOC125371453, LOC125371455, LOC125371457, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC125371465, LOC125371466, LOC125371467, LOC125371468, LOC125371469, LOC125371470, LOC125371471, LOC125371472, LOC125371473, LOC126862839, LOC126862840, LOC126862841, LOC126862842, LOC126862843, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC126862848, LOC126862849, LOC126862850, LOC128772422, LOC128772423, LOC128772424, LOC390877, LONP1, LRG1, LRRC8E, LSM7, MAP2K2, MAP2K7, MARCHF2, MATK, MBD3L1, MBD3L2, MBD3L2B, MBD3L3, MBD3L4, MBD3L5, MCEMP1, MCOLN1, MFSD12, MICOS13, MIR1227, MIR3940, MIR4321, MIR4746, MIR4747, MIR4999, MIR637, MIR6789, MIR6790, MIR6791, MIR6792, MIR6885, MIR7-3, MIR7-3HG, MIR7108, MIR7850, MKNK2, MLLT1, MOB3A, MPND, MRPL54, MUC16, MYDGF, MYO1F, NCLN, NDUFA11, NDUFA7, NFIC, NFILZ, NMRK2, NRTN, OAZ1, OR1M1, OR2Z1, OR7D2, OR7D4, OR7E24, OR7G1, OR7G2, OR7G3, PCP2, PEAK3, PET100, PEX11G, PIAS4, PIP5K1C, PLEKHJ1, PLIN3, PLIN4, PLIN5, PNPLA6, PRAM1, PRR22, PRR36, PSPN, PTPRS, RAB11B, RAB11B-AS1, RANBP3, RANBP3-DT, RAX2, RETN, RFX2, RPL36, RPS28, S1PR4, SAFB, SAFB2, SAXO5, SEMA6B, SF3A2, SGTA, SH2D3A, SH3GL1, SHD, SIRT6, SLC25A23, SLC25A41, SLC39A3, SMIM24, SMIM44, SNAPC2, SNORD37, SPPL2B, STAP2, STXBP2, TBXA2R, TEKTIP1, TGFBR3L, THOP1, TICAM1, TIMM13, TIMM44, TINCR, TJP3, TLE2, TLE5, TLE6, TMIGD2, TMPRSS9, TNFAIP8L1, TNFSF14, TNFSF9, TRAPPC5, TRG-TCC1-1, TRIP10, TRV-CAC3-1, TUBB4A, UBXN6, UHRF1, VAV1, VMAC, XAB2, YJU2, ZBTB7A, ZFR2, ZNF121, ZNF177, ZNF266, ZNF317, ZNF358, ZNF414, ZNF426, ZNF426-DT, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF559-ZNF177, ZNF560, ZNF561, ZNF561-AS1, ZNF562, ZNF57, ZNF699, ZNF77, ZNRF4		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 590853.	GRCh38/hg38 19p13.3(chr19:4934885-6501642)x3 GRCh37: Chr19:4934897-6501653 GRCh38: Chr19:4934885-6501642	ACER1, ACSBG2, ALKBH7, CAPS, CATSPERD, CLPP, CRB3, DENND1C, DUS3L, FUT3, FUT5, FUT6, GTF2F1, HSD11B1L, KDM4B, KHSRP, LOC101928844, LOC105372253, LOC105372255, LOC111828495, LOC112552174, LOC112552175, LOC112552176, LOC113939974, LOC121627852, LOC121627853, LOC121852975, LOC121852976, LOC125371459, LOC125371460, LOC125371461, LOC125371462, LOC125371463, LOC125371464, LOC126862844, LOC126862845, LOC126862846, LOC126862847, LOC390877, LONP1, MICOS13, MIR3940, MIR6790, MIR6885, MLLT1, NDUFA11, NRTN, PRR22, PSPN, PTPRS, RANBP3, RANBP3-DT, RFX2, RPL36, SAFB, SAFB2, SLC25A23, SLC25A41, TINCR, TUBB4A, UHRF1, VMAC, ZNRF4		See cases	Pathogenic (Aug 12, 2011)	criteria provided, single submitter
Select item 1504914.	GRCh38/hg38 19p13.3-13.2(chr19:5905175-6916287)x3 GRCh37: Chr19:5905186-6916298 GRCh38: Chr19:5905175-6916287	ACER1, ACSBG2, ADGRE1, ALKBH7, C3, CAPS, CD70, CLPP, CRB3, DENND1C, GPR108, GTF2F1, KHSRP, LOC105372255, LOC112552176, LOC112577455, LOC116276500, LOC121852975, LOC121852976, LOC125371463, LOC125371464, LOC125371465, LOC126862847, LOC390877, MIR3940, MIR6790, MIR6791, MIR6885, MLLT1, PSPN, RANBP3, RANBP3-DT, RFX2, SH2D3A, SLC25A23, SLC25A41, TNFSF14, TNFSF9, TRIP10, TUBB4A, VAV1, VMAC		See cases	Uncertain significance (Oct 24, 2012)	no assertion criteria provided
Select item 11794165.	Single allele GRCh37: Chr19:6361152-6361153 GRCh38: Chr19:6361141-6361142	CLPP		not provided	Benign (Nov 14, 2019)	criteria provided, single submitter
Select item 12265686.	Single allele GRCh37: Chr19:6361309 GRCh38: Chr19:6361298	CLPP		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 11885527.	Single allele GRCh37: Chr19:6361326-6361327 GRCh38: Chr19:6361315-6361316	CLPP		not provided	Likely benign (Nov 14, 2019)	criteria provided, single submitter
Select item 12508218.	Single allele GRCh37: Chr19:6361327 GRCh38: Chr19:6361316	CLPP		not provided	Benign (Aug 20, 2019)	criteria provided, single submitter
Select item 12968769.	Single allele GRCh37: Chr19:6361337 GRCh38: Chr19:6361326	CLPP		not provided	Benign (Aug 18, 2019)	criteria provided, single submitter
Select item 128180810.	Single allele GRCh37: Chr19:6361337-6361338 GRCh38: Chr19:6361326-6361327	CLPP		not provided	Benign (Aug 11, 2019)	criteria provided, single submitter
Select item 127714711.	Single allele GRCh37: Chr19:6361341 GRCh38: Chr19:6361330	CLPP		not provided	Benign (Aug 11, 2019)	criteria provided, single submitter
Select item 127007812.	Single allele GRCh37: Chr19:6361343 GRCh38: Chr19:6361332	CLPP		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 50485813.	NM_006012.4(CLPP):c.-7_-6insCC GRCh37: Chr19:6361579-6361580 GRCh38: Chr19:6361567-6361568	CLPP		not specified	Likely benign (Jan 30, 2018)	criteria provided, multiple submitters, no conflicts
Select item 22652214.	NM_006012.4(CLPP):c.-5G>A GRCh37: Chr19:6361581 GRCh38: Chr19:6361570	CLPP		not specified, not provided, Perrault syndrome 3	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 133986215.	NM_006012.4(CLPP):c.1A>G (p.Met1Val) GRCh37: Chr19:6361586 GRCh38: Chr19:6361575	CLPP	M1V	Perrault syndrome 3	not provided	no assertion provided
Select item 135636516.	NM_006012.4(CLPP):c.12_33dup (p.Val12fs) GRCh37: Chr19:6361589-6361590 GRCh38: Chr19:6361578-6361579	CLPP	V12fs	not provided	Pathogenic (Sep 27, 2022)	criteria provided, single submitter
Select item 248391617.	NM_006012.4(CLPP):c.11G>A (p.Gly4Glu) GRCh37: Chr19:6361596 GRCh38: Chr19:6361585	CLPP	G4E	Inborn genetic diseases	Uncertain significance (Feb 15, 2023)	criteria provided, single submitter
Select item 51763318.	NM_006012.4(CLPP):c.15A>G (p.Ile5Met) GRCh37: Chr19:6361600 GRCh38: Chr19:6361589	CLPP	I5M	not provided, not specified	Conflicting interpretations of pathogenicity (Aug 24, 2022)	criteria provided, conflicting interpretations
Select item 213819019.	NM_006012.4(CLPP):c.21del (p.Ala10fs) GRCh37: Chr19:6361606 GRCh38: Chr19:6361595	CLPP	A10fs	not provided	Pathogenic (Apr 30, 2022)	criteria provided, single submitter
Select item 195544420.	NM_006012.4(CLPP):c.21A>G (p.Val7=) GRCh37: Chr19:6361606 GRCh38: Chr19:6361595	CLPP		not provided	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 219796721.	NM_006012.4(CLPP):c.23G>C (p.Gly8Ala) GRCh37: Chr19:6361608 GRCh38: Chr19:6361597	CLPP	G8A	not provided	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 137026522.	NM_006012.4(CLPP):c.23G>T (p.Gly8Val) GRCh37: Chr19:6361608 GRCh38: Chr19:6361597	CLPP	G8V	not provided	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 130127823.	NM_006012.4(CLPP):c.28G>T (p.Ala10Ser) GRCh37: Chr19:6361613 GRCh38: Chr19:6361602	CLPP	A10S	not provided	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 180364824.	NM_006012.4(CLPP):c.29C>G (p.Ala10Gly) GRCh37: Chr19:6361614 GRCh38: Chr19:6361603	CLPP	A10G	not provided	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 228593225.	NM_006012.4(CLPP):c.31C>T (p.Arg11Trp) GRCh37: Chr19:6361616 GRCh38: Chr19:6361605	CLPP	R11W	Inborn genetic diseases	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 192608226.	NM_006012.4(CLPP):c.33G>A (p.Arg11=) GRCh37: Chr19:6361618 GRCh38: Chr19:6361607	CLPP		not provided	Likely benign (Jul 25, 2022)	criteria provided, single submitter
Select item 112011427.	NM_006012.4(CLPP):c.39G>A (p.Ala13=) GRCh37: Chr19:6361624 GRCh38: Chr19:6361613	CLPP		not specified, not provided	Likely benign (Aug 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 51732928.	NM_006012.4(CLPP):c.42A>C (p.Ser14=) GRCh37: Chr19:6361627 GRCh38: Chr19:6361616	CLPP		not provided, not specified	Likely benign (Dec 26, 2020)	criteria provided, multiple submitters, no conflicts
Select item 194238729.	NM_006012.4(CLPP):c.43T>C (p.Cys15Arg) GRCh37: Chr19:6361628 GRCh38: Chr19:6361617	CLPP	C15R	not provided	Uncertain significance (Oct 4, 2022)	criteria provided, single submitter
Select item 196721530.	NM_006012.4(CLPP):c.60G>A (p.Leu20=) GRCh37: Chr19:6361645 GRCh38: Chr19:6361634	CLPP		not provided	Likely benign (Jun 12, 2022)	criteria provided, single submitter
Select item 170501031.	NM_006012.4(CLPP):c.85C>T (p.Pro29Ser) GRCh37: Chr19:6361670 GRCh38: Chr19:6361659	CLPP	P29S	not provided	Uncertain significance (Mar 8, 2022)	criteria provided, single submitter
Select item 197312632.	NM_006012.4(CLPP):c.93G>T (p.Gln31His) GRCh37: Chr19:6361678 GRCh38: Chr19:6361667	CLPP	Q31H	not provided	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 246745733.	NM_006012.4(CLPP):c.94C>T (p.Arg32Trp) GRCh37: Chr19:6361679 GRCh38: Chr19:6361668	CLPP	R32W	Inborn genetic diseases	Uncertain significance (Mar 1, 2023)	criteria provided, single submitter
Select item 206966234.	NM_006012.4(CLPP):c.99G>A (p.Pro33=) GRCh37: Chr19:6361684 GRCh38: Chr19:6361673	CLPP		not provided	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 50553435.	NM_006012.4(CLPP):c.100C>T (p.Pro34Ser) GRCh37: Chr19:6361685 GRCh38: Chr19:6361674	CLPP	P34S	not provided, not specified	Conflicting interpretations of pathogenicity (Sep 14, 2022)	criteria provided, conflicting interpretations
Select item 194805436.	NM_006012.4(CLPP):c.101C>T (p.Pro34Leu) GRCh37: Chr19:6361686 GRCh38: Chr19:6361675	CLPP	P34L	not provided	Uncertain significance (Nov 26, 2021)	criteria provided, single submitter
Select item 254566237.	NM_006012.4(CLPP):c.106C>G (p.Arg36Gly) GRCh37: Chr19:6361691 GRCh38: Chr19:6361680	CLPP	R36G	Inborn genetic diseases	Uncertain significance (May 9, 2023)	criteria provided, single submitter
Select item 122039638.	NM_006012.4(CLPP):c.117G>A (p.Gln39=) GRCh37: Chr19:6361702 GRCh38: Chr19:6361691	CLPP		not provided	Benign/Likely benign (Sep 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 255818539.	NM_006012.4(CLPP):c.121G>A (p.Gly41Ser) GRCh37: Chr19:6361706 GRCh38: Chr19:6361695	CLPP	G41S	Inborn genetic diseases	Uncertain significance (Jun 6, 2023)	criteria provided, single submitter
Select item 147849840.	NM_006012.4(CLPP):c.121G>C (p.Gly41Arg) GRCh37: Chr19:6361706 GRCh38: Chr19:6361695	CLPP	G41R	not provided	Uncertain significance (Oct 2, 2021)	criteria provided, single submitter
Select item 49991641.	NM_006012.4(CLPP):c.127G>A (p.Ala43Thr) GRCh37: Chr19:6361712 GRCh38: Chr19:6361701	CLPP	A43T	Inborn genetic diseases, not provided	Uncertain significance (May 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 244265342.	NM_006012.4(CLPP):c.148G>A (p.Ala50Thr) GRCh37: Chr19:6361733 GRCh38: Chr19:6361722	CLPP	A50T	not provided	Uncertain significance (Mar 2, 2023)	criteria provided, single submitter
Select item 50509643.	NM_006012.4(CLPP):c.153G>A (p.Thr51=) GRCh37: Chr19:6361738 GRCh38: Chr19:6361727	CLPP		not specified	Likely benign (Jun 2, 2016)	criteria provided, single submitter
Select item 164948644.	NM_006012.4(CLPP):c.156G>A (p.Ala52=) GRCh37: Chr19:6361741 GRCh38: Chr19:6361730	CLPP		not provided	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 243070145.	NM_006012.4(CLPP):c.169C>G (p.Pro57Ala) GRCh37: Chr19:6361754 GRCh38: Chr19:6361743	CLPP	P57A	not provided	Uncertain significance (Aug 24, 2022)	criteria provided, single submitter
Select item 50029146.	NM_006012.4(CLPP):c.173T>G (p.Leu58Arg) GRCh37: Chr19:6361758 GRCh38: Chr19:6361747	CLPP	L58R	not provided, Perrault syndrome 3	Conflicting interpretations of pathogenicity (May 7, 2018)	criteria provided, conflicting interpretations
Select item 199898747.	NM_006012.4(CLPP):c.182T>C (p.Ile61Thr) GRCh37: Chr19:6361767 GRCh38: Chr19:6361756	CLPP	I61T	not provided	Uncertain significance (May 25, 2022)	criteria provided, single submitter
Select item 190377048.	NM_006012.4(CLPP):c.198+11C>T GRCh37: Chr19:6361794 GRCh38: Chr19:6361783	CLPP		not provided	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 121735549.	NM_006012.4(CLPP):c.199-31dup GRCh37: Chr19:6361845-6361846 GRCh38: Chr19:6361834-6361835	CLPP		not provided, Perrault syndrome 3	Benign (Jul 22, 2021)	criteria provided, multiple submitters, no conflicts
Select item 166784150.	NM_006012.4(CLPP):c.199-16A>T GRCh37: Chr19:6361864 GRCh38: Chr19:6361853	CLPP		not provided	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 154901351.	NM_006012.4(CLPP):c.199-16A>G GRCh37: Chr19:6361864 GRCh38: Chr19:6361853	CLPP		not provided	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 152899052.	NM_006012.4(CLPP):c.199-15T>C GRCh37: Chr19:6361865 GRCh38: Chr19:6361854	CLPP		not provided	Likely benign (Feb 1, 2021)	criteria provided, single submitter
Select item 195411453.	NM_006012.4(CLPP):c.199-9T>A GRCh37: Chr19:6361871 GRCh38: Chr19:6361860	CLPP		not provided	Likely benign (Feb 21, 2022)	criteria provided, single submitter
Select item 217141154.	NM_006012.4(CLPP):c.199-1G>C GRCh37: Chr19:6361879 GRCh38: Chr19:6361868	CLPP		not provided	Likely pathogenic (Mar 4, 2022)	criteria provided, single submitter
Select item 155783855.	NM_006012.4(CLPP):c.201T>C (p.Gly67=) GRCh37: Chr19:6361882 GRCh38: Chr19:6361871	CLPP		not provided	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 55936556.	NM_006012.4(CLPP):c.216C>T (p.Ala72=) GRCh37: Chr19:6361897 GRCh38: Chr19:6361886	CLPP		not provided	Likely benign (Mar 16, 2021)	criteria provided, single submitter
Select item 147020857.	NM_006012.4(CLPP):c.218A>G (p.Tyr73Cys) GRCh37: Chr19:6361899 GRCh38: Chr19:6361888	CLPP	Y73C	not provided	Uncertain significance (Jun 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 74736058.	NM_006012.4(CLPP):c.225C>T (p.Ile75=) GRCh37: Chr19:6361906 GRCh38: Chr19:6361895	CLPP		not provided	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 81381859.	NM_006012.4(CLPP):c.233G>C (p.Arg78Pro) GRCh37: Chr19:6361914 GRCh38: Chr19:6361903	CLPP	R78P	Perrault syndrome 3	Likely pathogenic (May 7, 2018)	criteria provided, single submitter
Select item 153479160.	NM_006012.4(CLPP):c.234G>A (p.Arg78=) GRCh37: Chr19:6361915 GRCh38: Chr19:6361904	CLPP		not provided	Likely benign (Jun 27, 2022)	criteria provided, single submitter
Select item 155102661.	NM_006012.4(CLPP):c.240G>A (p.Leu80=) GRCh37: Chr19:6361921 GRCh38: Chr19:6361910	CLPP		not provided	Likely benign (Jan 15, 2021)	criteria provided, single submitter
Select item 5587062.	NM_006012.4(CLPP):c.270+4A>G GRCh37: Chr19:6361955 GRCh38: Chr19:6361944	CLPP		Autosomal recessive hearing impairment with normal menstrual cycles, Perrault syndrome 3	Pathogenic (Jun 17, 2013)	no assertion criteria provided
Select item 153424563.	NM_006012.4(CLPP):c.270+11C>T GRCh37: Chr19:6361962 GRCh38: Chr19:6361951	CLPP		not provided	Likely benign (Aug 7, 2021)	criteria provided, single submitter
Select item 124096164.	NM_006012.4(CLPP):c.270+25C>T GRCh37: Chr19:6361976 GRCh38: Chr19:6361965	CLPP		not provided	Benign (Nov 25, 2018)	criteria provided, single submitter
Select item 123453565.	NM_006012.4(CLPP):c.270+161A>C GRCh37: Chr19:6362112 GRCh38: Chr19:6362101	CLPP		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 162611166.	NM_006012.4(CLPP):c.271-10C>T GRCh37: Chr19:6362447 GRCh38: Chr19:6362436	CLPP		not provided	Likely benign (Apr 24, 2021)	criteria provided, single submitter
Select item 72164567.	NM_006012.4(CLPP):c.271-8A>T GRCh37: Chr19:6362449 GRCh38: Chr19:6362438	CLPP		not provided	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 197777768.	NM_006012.4(CLPP):c.273C>T (p.Ile91=) GRCh37: Chr19:6362459 GRCh38: Chr19:6362448	CLPP		not provided	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 74840769.	NM_006012.4(CLPP):c.282C>T (p.Ser94=) GRCh37: Chr19:6362468 GRCh38: Chr19:6362457	CLPP		not provided	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 133281270.	NM_006012.4(CLPP):c.299T>C (p.Ile100Thr) GRCh37: Chr19:6362485 GRCh38: Chr19:6362474	CLPP	I100T	Perrault syndrome 3	Likely pathogenic	criteria provided, single submitter
Select item 190238471.	NM_006012.4(CLPP):c.300C>T (p.Ile100=) GRCh37: Chr19:6362486 GRCh38: Chr19:6362475	CLPP		not provided	Likely benign (Oct 28, 2022)	criteria provided, single submitter
Select item 22725472.	NM_006012.4(CLPP):c.306G>A (p.Gln102=) GRCh37: Chr19:6362492 GRCh38: Chr19:6362481	CLPP		not specified, not provided	Likely benign (Jul 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218002473.	NM_006012.4(CLPP):c.321A>G (p.Gln107=) GRCh37: Chr19:6362507 GRCh38: Chr19:6362496	CLPP		not provided	Likely benign (Aug 28, 2022)	criteria provided, single submitter
Select item 120383974.	NM_006012.4(CLPP):c.340C>T (p.Pro114Ser) GRCh37: Chr19:6362526 GRCh38: Chr19:6362515	CLPP	P114S	Inborn genetic diseases, not provided	Conflicting interpretations of pathogenicity (Sep 1, 2022)	criteria provided, conflicting interpretations
Select item 254356975.	NM_006012.4(CLPP):c.365C>T (p.Pro122Leu) GRCh37: Chr19:6362551 GRCh38: Chr19:6362540	CLPP	P122L	Inborn genetic diseases	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 59370376.	NM_006012.4(CLPP):c.367+2T>C GRCh37: Chr19:6362555 GRCh38: Chr19:6362544	CLPP		not provided	Pathogenic (Aug 16, 2017)	criteria provided, single submitter
Select item 202351877.	NM_006012.4(CLPP):c.367+16C>G GRCh37: Chr19:6362569 GRCh38: Chr19:6362558	CLPP		not provided	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 190792478.	NM_006012.4(CLPP):c.367+17C>T GRCh37: Chr19:6362570 GRCh38: Chr19:6362559	CLPP		not provided	Likely benign (Mar 17, 2022)	criteria provided, single submitter
Select item 118943279.	NM_006012.4(CLPP):c.367+148G>A GRCh37: Chr19:6362701 GRCh38: Chr19:6362690	CLPP		not provided	Likely benign (Jun 20, 2019)	criteria provided, single submitter
Select item 128195580.	NM_006012.4(CLPP):c.367+171C>T GRCh37: Chr19:6362724 GRCh38: Chr19:6362713	CLPP		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 125074181.	NM_006012.4(CLPP):c.367+234C>T GRCh37: Chr19:6362787 GRCh38: Chr19:6362776	CLPP		not provided	Benign (Dec 14, 2018)	criteria provided, single submitter
Select item 125028882.	NM_006012.4(CLPP):c.368-297G>C GRCh37: Chr19:6364166 GRCh38: Chr19:6364155	CLPP		not provided	Benign (Dec 10, 2018)	criteria provided, single submitter
Select item 125955183.	NM_006012.4(CLPP):c.368-179G>T GRCh37: Chr19:6364284 GRCh38: Chr19:6364273	CLPP		not provided	Benign (Dec 24, 2018)	criteria provided, single submitter
Select item 121417084.	NM_006012.4(CLPP):c.368-173C>T GRCh37: Chr19:6364290 GRCh38: Chr19:6364279	CLPP		not provided	Likely benign (Dec 21, 2018)	criteria provided, single submitter
Select item 121971985.	NM_006012.4(CLPP):c.368-97G>T GRCh37: Chr19:6364366 GRCh38: Chr19:6364355	CLPP		not provided	Likely benign (Jun 22, 2018)	criteria provided, single submitter
Select item 125468286.	NM_006012.4(CLPP):c.368-44C>G GRCh37: Chr19:6364419 GRCh38: Chr19:6364408	CLPP		not provided	Likely benign (Jan 18, 2021)	criteria provided, single submitter
Select item 123817887.	NM_006012.4(CLPP):c.368-43G>T GRCh37: Chr19:6364420 GRCh38: Chr19:6364409	CLPP		not provided	Benign (Jun 29, 2018)	criteria provided, single submitter
Select item 22651888.	NM_006012.4(CLPP):c.368-10C>T GRCh37: Chr19:6364453 GRCh38: Chr19:6364442	CLPP		not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22651989.	NM_006012.4(CLPP):c.368-8G>A GRCh37: Chr19:6364455 GRCh38: Chr19:6364444	CLPP		not provided, not specified	Benign/Likely benign (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 72345590.	NM_006012.4(CLPP):c.369T>C (p.Gly123=) GRCh37: Chr19:6364464 GRCh38: Chr19:6364453	CLPP		not provided	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 241434691.	NM_006012.4(CLPP):c.381C>T (p.Thr127=) GRCh37: Chr19:6364476 GRCh38: Chr19:6364465	CLPP		not provided	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 257974992.	NM_006012.4(CLPP):c.383_399dup (p.Asp134fs) GRCh37: Chr19:6364477-6364478 GRCh38: Chr19:6364466-6364467	CLPP	D134fs	Perrault syndrome 1	Pathogenic (Sep 19, 2023)	criteria provided, single submitter
Select item 135201793.	NM_006012.4(CLPP):c.382G>A (p.Ala128Thr) GRCh37: Chr19:6364477 GRCh38: Chr19:6364466	CLPP	A128T	not provided	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 144498594.	NM_006012.4(CLPP):c.384G>A (p.Ala128=) GRCh37: Chr19:6364479 GRCh38: Chr19:6364468	CLPP		not provided	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 119566895.	NM_006012.4(CLPP):c.384G>T (p.Ala128=) GRCh37: Chr19:6364479 GRCh38: Chr19:6364468	CLPP		not provided	Likely benign (Jun 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 76995196.	NM_006012.4(CLPP):c.399C>T (p.Tyr133=) GRCh37: Chr19:6364494 GRCh38: Chr19:6364483	CLPP		not specified, not provided	Benign/Likely benign (Sep 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 22652097.	NM_006012.4(CLPP):c.405G>A (p.Thr135=) GRCh37: Chr19:6364500 GRCh38: Chr19:6364489	CLPP		not specified, not provided	Benign (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 226459298.	NM_006012.4(CLPP):c.416T>C (p.Ile139Thr) GRCh37: Chr19:6364511 GRCh38: Chr19:6364500	CLPP	I139T	Inborn genetic diseases	Uncertain significance (Dec 3, 2021)	criteria provided, single submitter
Select item 5586899.	NM_006012.4(CLPP):c.433A>C (p.Thr145Pro) GRCh37: Chr19:6364528 GRCh38: Chr19:6364517	CLPP	T145P	Perrault syndrome 3	Pathogenic (Jun 17, 2013)	no assertion criteria provided
Select item 869195100.	NM_006012.4(CLPP):c.439T>A (p.Cys147Ser) GRCh37: Chr19:6364534 GRCh38: Chr19:6364523	CLPP	C147S	Perrault syndrome 3	Likely pathogenic (Oct 21, 2019)	no assertion criteria provided

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