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Items: 50

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
BMP2SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIESPathogenic
(Feb 16, 2018)
no assertion criteria provided
2.
BMP2Type A2 brachydactylyPathogenic
(May 1, 2011)
no assertion criteria provided
3.
GRCh37:
Chr20:6750774
GRCh38:
Chr20:6770127
BMP2not providedUncertain significance
(Dec 12, 2017)
criteria provided, single submitter
4.
GRCh37:
Chr20:6750816
GRCh38:
Chr20:6770169
BMP2not providedPathogenic
(Jun 5, 2018)
criteria provided, single submitter
5.
GRCh37:
Chr20:6750852
GRCh38:
Chr20:6770205
BMP2SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIESLikely pathogenic
(Feb 16, 2018)
criteria provided, single submitter
6.
GRCh37:
Chr20:6750882
GRCh38:
Chr20:6770235
BMP2not specifiedBenign
(Oct 8, 2014)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr20:6750951
GRCh38:
Chr20:6770304
BMP2Hearing impairmentUncertain significance
(Oct 8, 2018)
no assertion criteria provided
8.
GRCh37:
Chr20:6750973
GRCh38:
Chr20:6770326
BMP2not providedUncertain significance
(May 18, 2018)
criteria provided, single submitter
9.
GRCh37:
Chr20:6751034
GRCh38:
Chr20:6770387
BMP2not specifiedBenign
(Oct 20, 2014)
criteria provided, multiple submitters, no conflicts
10.
GRCh37:
Chr20:6751048
GRCh38:
Chr20:6770401
BMP2not providedUncertain significance
(May 13, 2016)
criteria provided, single submitter
11.
GRCh37:
Chr20:6751096
GRCh38:
Chr20:6770449
BMP2not providedUncertain significance
(Aug 31, 2016)
criteria provided, single submitter
12.
GRCh37:
Chr20:6758915
GRCh38:
Chr20:6778268
BMP2not providedUncertain significance
(Aug 21, 2018)
criteria provided, single submitter
13.
GRCh37:
Chr20:6759005
GRCh38:
Chr20:6778358
BMP2not provided, SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIESConflicting interpretations of pathogenicity
(Oct 15, 2018)
criteria provided, conflicting interpretations
14.
GRCh37:
Chr20:6759097
GRCh38:
Chr20:6778450
BMP2not specifiedLikely benign
(Apr 16, 2015)
criteria provided, single submitter
15.
GRCh37:
Chr20:6759106
GRCh38:
Chr20:6778459
BMP2not providedUncertain significance
(Nov 22, 2016)
criteria provided, single submitter
16.
GRCh37:
Chr20:6759115
GRCh38:
Chr20:6778468
BMP2not specifiedBenign
(Jan 21, 2015)
criteria provided, multiple submitters, no conflicts
17.
GRCh37:
Chr20:6759175
GRCh38:
Chr20:6778528
BMP2not specifiedLikely benigncriteria provided, single submitter
18.
GRCh37:
Chr20:6759436
GRCh38:
Chr20:6778789
BMP2not providedUncertain significance
(Jul 5, 2018)
criteria provided, single submitter
19.
GRCh37:
Chr20:6759494
GRCh38:
Chr20:6778847
BMP2SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIESPathogenic
(Feb 16, 2018)
no assertion criteria provided
20.
GRCh37:
Chr20:6759532
GRCh38:
Chr20:6778885
BMP2SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIESLikely pathogenic
(Feb 16, 2018)
criteria provided, single submitter
21.
GRCh37:
Chr20:6759586
GRCh38:
Chr20:6778939
BMP2not providedUncertain significance
(Aug 24, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr20:6759706
GRCh38:
Chr20:6779059
BMP2not specifiedBenigncriteria provided, single submitter
23.
GRCh37:
Chr20:7106289
GRCh38:
Chr20:7125642
BMP2Craniosynostosis 7risk factor
(Feb 16, 2018)
no assertion criteria provided
24.
GRCh37:
Chr20:63244-62961294
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5OS, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, C20orf78, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1
not providedPathogenic
(Jan 1, 2013)
no assertion criteria provided
25.
GRCh37:
Chr20:63244-62948788
MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5OS, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, C20orf78, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1, ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3
not providedPathogenic
(Jan 5, 2017)
no assertion criteria provided
26.
GRCh37:
Chr20:63244-62912463
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5OS, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, C20orf78, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1
not providedPathogenic
(Oct 31, 2014)
no assertion criteria provided
27.
GRCh37:
Chr20:3092739-17091453
not providedPathogenic
(Mar 22, 2018)
no assertion criteria provided
28.
GRCh37:
Chr20:2463101-8185680
See casesPathogenic
(Nov 12, 2013)
no assertion criteria provided
29.
GRCh37:
Chr20:61568-10486106
See casesLikely pathogenic
(May 18, 2015)
no assertion criteria provided
30.
GRCh37:
Chr20:6143179-8611534
BMP2, PLCB1, HAO1, TMX4See casesLikely pathogenic
(Jun 3, 2014)
no assertion criteria provided
31.
GRCh37:
Chr20:61569-62915555
ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5OS, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, C20orf78, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1
See casesPathogenic
(Dec 2, 2014)
no assertion criteria provided
32.
GRCh37:
Chr20:61569-62915555
ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25, OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, ZSWIM3, WFDC10A, BANF2, NANP, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, ADIG, GTSF1L, WFDC5, GNAS-AS1, SHLD1, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB125, DEFB128, WFDC11, WFDC9, WFDC10B, C20orf197, SIRPB2, C20orf203, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, EFCAB8, FAM209B, SPINT4, DEFB132, C20orf202, LINC01597, MIR103A2, MIR1-1, MIR133A2, MIR296, GDF5OS, MIR499A, RAD21L1, NKX2-4, HAR1A, HAR1B, MIR298, LOC100128028, LOC100128310, C20orf78, ZNF840P, DPH3P1, TMEM239, MIR1292, PCNA-AS1, PET117, MTRNR2L3, EPPIN-WFDC6, TGIF2-RAB5IF, TRERNA1, ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B
See casesPathogenic
(Jul 14, 2015)
no assertion criteria provided
33.
GRCh37:
Chr20:67837-29638363
not providedPathogenic
(Jan 4, 2017)
criteria provided, single submitter
34.
GRCh37:
Chr20:6296284-7092386
BMP2See casesLikely pathogenicno assertion criteria provided
35.
GRCh37:
Chr20:4392930-12667768
See casesPathogenicno assertion criteria provided
36.
GRCh37:
Chr20:6713937-7303989
BMP2See casesPathogenicno assertion criteria provided
37.
GRCh37:
Chr20:80198-26075841
See casesPathogenic
(Jan 20, 2016)
criteria provided, single submitter
38.
GRCh37:
Chr20:61569-18668675
GRCh38:
Chr20:80928-18688031
ADRA1D, JAG1, AVP, BFSP1, BMP2, CDC25B, CENPB, CHGB, CSNK2A1, FKBP1A, GNRH2, IDH3B, ITPA, OXT, PCNA, PCSK2, PDYN, PLCB4, PRNP, PTPRA, RRBP1, SIGLEC1, SNAP25, SNRPB, SNRPB2, SOX12, TCF15, TGM3, ZNF133, MKKS, ATRN, CDS2, PSMF1, SNPH, LZTS3, RASSF2, SLC23A2, SIRPB1, SEC23B, NOP56, RBCK1, POLR3F, RBBP9, DSTN, RNF24, UBOX5, BTBD3, PLCB1, PRND, FLRT3, LAMP5, SPEF1, C20orf194, RNU105B, SNORD57, SNORD56, SDCBP2, SNX5, TMEM230, ANGPT4, ESF1, TRMT6, HAO1, SMOX, CRLS1, C20orf27, DZANK1, SPTLC3, AP5S1, TMEM74B, SIRPG, FERMT1, KIF16B, TASP1, NSFL1C, TMX4, GPCPD1, CPXM1, OTOR, PAK5, KAT14, MAVS, EBF4, TRIB3, OVOL2, FASTKD5, ANKEF1, GFRA4, VPS16, PCED1A, MRPS26, DDRGK1, NDUFAF5, ZNF343, NRSN2, PANK2, ADAM33, SEL1L2, DEFB126, FAM110A, SLC4A11, MCM8, ZCCHC3, SCRT2, MGME1, DTD1, SLC52A3, HSPA12B, TMC2, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, C20orf96, MACROD2, SRXN1, BANF2, MACROD2-IT1, DEFB127, ISM1, DEFB129, SIRPA, STK35, PRNT, LINC00654, SHLD1, LRRN4, DEFB125, DEFB128, SIRPB2, LOC339593, RSPO4, TGM6, LOC388780, SMIM26, DEFB132, C20orf202, MIR103A2, LINC00851, LOC613266, RAD21L1, LOC643406, SNORA51, SNORD17, SNORD86, SNORD110, PDYN-AS1, LINC01433, C20orf187, LINC00687, SNORD119, SNAP25-AS1, UBOX5-AS1, TMEM239, MIR1292, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3192, LINC01723, ISM1-AS1, NRSN2-AS1, SDCBP2-AS1, LINC00658, FKBP1A-SDCBP2, PLCB1-IT1, SIRPG-AS1, LINC01730, LINC01729, MCM8-AS1, CASC20, LINC01428, LINC01751, LINC01706, LAMP5-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, LOC101929526, MIR6869, MIR6870, MIR8062, LOC102606466, LOC105372493, LINC01713, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189
See casesPathogenic
(Sep 27, 2013)
no assertion criteria provided
39.
GRCh37:
Chr20:1249947-8607558
GRCh38:
Chr20:1269303-8626911
See casesPathogenic
(Oct 24, 2012)
no assertion criteria provided
40.
GRCh37:
Chr20:61568-26305479
GRCh38:
Chr20:80927-26324843
ADRA1D, JAG1, AVP, BFSP1, BMP2, ENTPD6, CDC25B, CENPB, CHGB, CSNK2A1, CST1, CST2, CST3, CST4, CST5, FKBP1A, GNRH2, FOXA2, IDH3B, INSM1, ITPA, NKX2-2, OXT, PAX1, PCNA, PCSK2, PDYN, PLCB4, PRNP, PTPRA, PYGB, RRBP1, SIGLEC1, SNAP25, SNRPB, SNRPB2, SOX12, SSTR4, TCF15, TGM3, THBD, ZNF133, MKKS, ATRN, CST7, CDS2, PSMF1, SNPH, LZTS3, RASSF2, GINS1, SLC23A2, CST8, SIRPB1, SEC23B, NOP56, RBCK1, POLR3F, RBBP9, DSTN, RNF24, XRN2, UBOX5, BTBD3, CD93, NINL, PLCB1, PRND, FLRT3, LAMP5, SPEF1, C20orf194, CFAP61, ABHD12, ZNF337, RNU105B, SNORD57, SNORD56, SDCBP2, SNX5, TMEM230, LINC00652, NXT1, VSX1, NAA20, CRNKL1, ANGPT4, ESF1, TRMT6, HAO1, RIN2, SMOX, CRLS1, C20orf27, DZANK1, SPTLC3, AP5S1, TMEM74B, SIRPG, FERMT1, KIF16B, TASP1, KIZ, NSFL1C, TMX4, GPCPD1, CPXM1, OTOR, APMAP, PAK5, RALGAPA2, KAT14, SLC24A3, MAVS, EBF4, TRIB3, OVOL2, FASTKD5, NAPB, ANKEF1, GFRA4, GZF1, VPS16, PCED1A, MRPS26, DDRGK1, NDUFAF5, ZNF343, SYNDIG1, NRSN2, PANK2, ADAM33, SEL1L2, DEFB126, FAM110A, SLC4A11, MCM8, ACSS1, ZCCHC3, SCRT2, GGTLC1, MGME1, DTD1, SLC52A3, HSPA12B, TMC2, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, C20orf96, MACROD2, SRXN1, LINC00261, BANF2, NANP, MACROD2-IT1, DEFB127, SCP2D1, ISM1, CST11, DEFB129, SIRPA, STK35, PRNT, LINC00654, SHLD1, LRRN4, LINC00656, DEFB125, DEFB128, SIRPB2, LOC284788, LOC284798, FAM182A, MIR663AHG, LOC339593, RSPO4, TGM6, LOC388780, SMIM26, DEFB132, C20orf202, LINC01721, MIR103A2, LINC00851, LOC613266, RAD21L1, LOC643406, NKX2-4, SNORA51, SNORD17, SNORD86, SNORD110, MIR663A, PDYN-AS1, LINC01433, C20orf187, LINC00687, FAM182B, SNORD119, C20orf78, LOC100130264, SNAP25-AS1, UBOX5-AS1, LOC100134868, LINC01432, LINC00653, TMEM239, MIR1292, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3192, LINC01723, ISM1-AS1, LINC01431, NRSN2-AS1, SDCBP2-AS1, LINC00658, FKBP1A-SDCBP2, PLCB1-IT1, LOC101926889, LOC101926935, LINC01733, SIRPG-AS1, LINC01730, LINC01729, MCM8-AS1, CASC20, LINC01428, LINC01751, LINC01706, LAMP5-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, LOC101929526, KIZ-AS1, LINC01726, LINC01727, LINC01427, LNCNEF, MIR6869, MIR6870, MIR8062, LOC102606466, ZNF337-AS1, LOC105372493, LINC01713, LINC00237, LINC01747, LOC105372582, LOC106799846, LOC107457602, LOC107987276, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271
See casesPathogenic
(Aug 1, 2014)
no assertion criteria provided
41.
GRCh37:
Chr20:60747-13010049
GRCh38:
Chr20:80106-13029401
See casesPathogenic
(May 7, 2012)
no assertion criteria provided
42.
GRCh37:
Chr20:6166723-8784975
GRCh38:
Chr20:6186076-8804328
See casesUncertain significance
(Jan 3, 2012)
no assertion criteria provided
43.
GRCh37:
Chr20:4323680-6892377
GRCh38:
Chr20:4343033-6911730
See casesPathogenic
(Jan 13, 2012)
no assertion criteria provided
44.
GRCh37:
Chr20:80198-62908674
GRCh38:
Chr20:99557-64277321
OCSTAMP, TSHZ2, C20orf85, ZNF831, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, MIR1-1HG, DUSP15, BPIFB6, BPIFA3, C20orf144, CHMP4B, PIGU, FAM83C, GATA5, SLC32A1, C20orf96, BPIFA2, ZBTB46, WFDC3, GCNT7, NOL4L, CBLN4, CTCFL, MROH8, SAMD10, ABHD16B, CCM2L, SOGA1, TLDC2, RIMS4, ANKRD60, SUN5, MACROD2, SRXN1, ROMO1, NEURL2, LINC00261, ZSWIM3, WFDC10A, LINC01620, BANF2, NANP, FAM83C-AS1, MACROD2-IT1, DEFB127, SCP2D1, ISM1, WFDC6, C20orf173, LINC00028, RIPOR3, CST11, DEFB129, SIRPA, RBBP8NL, CNBD2, STK35, R3HDML, LOC149684, ADIG, GTSF1L, WFDC5, APCDD1L-DT, GNAS-AS1, PRNT, LINC00654, SHLD1, NOL4L-DT, COMMD7, BPIFB4, LSM14B, WFDC13, APCDD1L, LRRN4, TTLL9, ACTL10, ASXL1, LKAAEAR1, FAM209A, LINC00656, DEFB115, DEFB116, DEFB119, DEFB121, DEFB123, DEFB124, DEFB128, MIR1-1HG-AS1, WFDC11, WFDC9, WFDC10B, C20orf204, LINC00494, LINC01270, C20orf197, MIR646HG, SIRPB2, LOC284788, LOC284798, FAM182A, MIR663AHG, C20orf203, LINC01734, LOC339593, ARHGAP40, RSPO4, TGM6, XKR7, BPIFB3, TMEM189, TMEM189-UBE2V1, LOC388780, SMIM26, EFCAB8, SNHG17, FAM209B, SPINT4, DEFB132, C20orf202, LINC01721, LINC01597, MIR103A2, MIR1-1, MIR124-3, MIR133A2, MIR296, LINC00851, ZFAS1, GDF5OS, MIR499A, LOC613266, RAD21L1, LOC643406, NKX2-4, NORAD, SNORA71E, SNORA51, SNORA60, SNORA71C, SNORA71D, SNORD12, SNORD17, SNORD86, SNORD110, MIR644A, MIR645, MIR646, MIR647, MIR663A, PDYN-AS1, LINC01433, C20orf187, LINC00687, FAM182B, LOC729296, SYS1-DBNDD2, HAR1A, HAR1B, SNORD119, UCKL1-AS1, SNORD12B, MIR298, MIR941-1, MIR941-4, MIR941-2, MIR941-3, SLCO4A1-AS1, LOC100128028, LOC100128310, C20orf78, LOC100128988, C20orf181, LOC100130264, LOC100130373, LOC100130587, ZNF840P, SNAP25-AS1, LOC100131496, DPH3P1, UBOX5-AS1, LOC100134868, LINC00029, LINC01056, FLJ16779, LINC01432, LINC00653, LOC100287792, TMEM239, LOC100291105, MIR1289-1, MIR1914, MIR1292, MIR1302-5, MIR1257, MIR1825, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3195, MIR3192, MIR4325, MIR3194, MIR3193, MIR4326, MIR3196, MTRNR2L3, MIR3646, MIR3616, MIR3617, LINC01723, ISM1-AS1, LINC01370, LINC01431, MHENCR, OSER1-DT, STK4-AS1, SMIM25, LOC100506175, LOC100506384, LINC01718, NRSN2-AS1, SDCBP2-AS1, LINC00658, EPPIN-WFDC6, TGIF2-RAB5IF, FKBP1A-SDCBP2, RTEL1-TNFRSF6B, SLMO2-ATP5E, STX16-NPEPL1, MIR499B, MIR548O2, MIR4756, MIR4758, MIR4532, MIR4533, MIR4755, MIR548AG2, LINC00659, LINC00489, HM13-AS1, PLCB1-IT1, TRERNA1, LINC01523, OGFR-AS1, MMP24OS, RALY-AS1, LOC101926889, LOC101926935, LINC01733, DLGAP4-AS1, PLCG1-AS1, LOC101927138, LOC101927159, HNF4A-AS1, LINC01430, LOC101927377, LINC01522, LINC01275, LINC01273, CEBPB-AS1, LINC01271, ADNP-AS1, LINC01429, LINC01524, LOC101927770, LINC01441, LOC101927932, LOC101928048, LAMA5-AS1, ZBTB46-AS1, SIRPG-AS1, LINC01730, LINC01729, MCM8-AS1, CASC20, LINC01428, LINC01751, LINC01706, LAMP5-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, LOC101929526, KIZ-AS1, LINC01726, LINC01727, LINC01427, LNCNEF, LOC101929698, ZNF341-AS1, MIR6812, MIR6869, MIR6870, MIR8062, MIR6813, MIR6871, LOC102606466, LINC01754, CSE1L-AS1, LINC01440, BMP7-AS1, ZNF337-AS1, ABALON, MIR941-5, LOC105369209, LOC105372493, LINC01713, LINC00237, LINC01747, LOC105372582, FAM242A, LINC01746, LINC01728, LOC105372631, LOC105372633, LOC105372653, LOC105372672, LINC01716, LOC105372695, LINC01742, LOC105379477, FAM242B, NKILA, KCNK15-AS1, LOC106799846, LOC106992256, LOC107080552, LOC107303343, LOC107457602, LOC107985433, LOC107987276, LOC108167311, LOC108167312, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC108254667, LOC108281116, LOC108353820, LOC109363676, LOC109461473, LOC109461476, LOC109504727, LOC109621227, SNORA117, SNORD154, SLC12A5-AS1, LOC110120877, LOC110120914, LOC110120921, LOC110120949, LOC110121317, LOC110121321, LOC110121332, LOC110121338, LOC110121370, LOC110121454, LOC110121469, LOC110121477, LOC110121484, LOC110121494, LOC110121497, LOC110594337, MMP24-AS1-EDEM2, LOC111240478, LOC111240479, LOC111365159, LOC111365169, LOC111365189, LOC111365218, LOC111413042, LOC111465001, LOC111562371, LOC112268271, ADA, ADRA1D, JAG1, AHCY, ASIP, ATP5F1E, AVP, BCL2L1, BFSP1, BMP2, BMP7, BPI, ENTPD6, CD40, CDC25B, CDH4, CEBPB, CENPB, CHGB, CHRNA4, COL9A3, CSE1L, CSNK2A1, CST1, CST2, CST3, CST4, CST5, CSTF1, CTSZ, CYP24A1, DNMT3B, E2F1, EDN3, EEF1A2, EPB41L1, EYA2, FKBP1A, FOXS1, GGT7, GHRH, GNAS, GNRH2, NPBWR2, GSS, HCK, FOXA2, HNF4A, ID1, IDH3B, INSM1, EIF6, ITPA, KCNB1, KCNG1, KCNQ2, KCNS1, LAMA5, LBP, MC3R, MMP9, MYBL2, MYT1, NFATC2, NKX2-2, NNAT, NTSR1, OPRL1, OXT, PAX1, PCK1, PCNA, PCSK2, PDYN, PFDN4, PI3, PLAGL2, PLCB4, PLCG1, PLTP, CTSA, PPP1R3D, PRNP, PSMA7, PTGIS, PTK6, PTPN1, PTPRA, PYGB, RBL1, RPN2, RPS21, RRBP1, SDC4, SEMG1, SEMG2, SRSF6, SLPI, SIGLEC1, SNAI1, SNAP25, SNRPB, SNRPB2, SNTA1, SOX12, SPAG4, SRC, SRMS, SSTR4, STAU1, STK4, AURKA, TAF4, TCEA2, TCF15, TFAP2C, TGM2, TGM3, THBD, TNNC2, TOP1, TPD52L2, UBE2V1, YWHAB, ZNF133, ZNF217, MKKS, GDF5, NCOA3, ATRN, RAE1, CST7, BCAS1, STX16, CDS2, TNFRSF6B, MATN4, DPM1, CCN5, EIF2S2, CPNE1, NFS1, CBFA2T2, VAPB, B4GALT5, KIF3B, PSMF1, RBM39, TTI1, SNPH, LZTS3, RASSF2, TM9SF4, SPATA2, GINS1, OSBPL2, MAFB, SLC23A2, ACOT8, CST8, ATP9A, SGK2, RBM12, ARFRP1, RGS19, SIRPB1, SYCP2, MYL9, WFDC2, SEC23B, NOP56, PROCR, ARFGEF2, RBCK1, POLR3F, TCFL5, RBBP9, SPINT3, MMP24, BLCAP, TOMM34, SERINC3, DSTN, ADRM1, OGFR, UBE2C, DIDO1, PTPRT, PKIG, CEP250, RNF24, HRH3, PXMP4, RBPJL, XRN2, DLGAP4, UBOX5, BTBD3, RALY, CD93, MAPRE1, TPX2, NINL, ZHX3, NCOA6, PLCB1, SLC9A8, ADNP, POFUT1, ZMYND8, SPO11, PRND, FLRT3, LAMP5, PRPF6, SPEF1, SAMHD1, C20orf194, AAR2, L3MBTL1, SS18L1, PPP1R16B, CFAP61, ABHD12, TRPC4AP, ZNF337, MTG2, GMEB2, SNORD12C, RNU105B, SNORA71B, SNORA71A, SNORD57, SNORD56, SDCBP2, SNX5, TP53TG5, MOCS3, SLCO4A1, REM1, TMEM230, LINC00652, NXT1, VSX1, STMN3, SLC35C2, PRELID3B, IFT52, NAA20, PHF20, SCAND1, BPIFA1, CRNKL1, ANGPT4, NELFCD, RTF2, OSER1, ESF1, PIGT, TRMT6, ERGIC3, CDK5RAP1, RTEL1, SOX18, HAO1, RIN2, SMOX, CRLS1, YTHDF1, LIME1, UCKL1, C20orf27, GID8, DZANK1, UQCC1, PCMTD2, MRGBP, SPTLC3, AP5S1, TMEM74B, SIRPG, RBM38, FERMT1, KIF16B, TASP1, BCAS4, DDX27, ZNF334, ZFP64, ARFGAP1, EDEM2, DOK5, KIZ, DBNDD2, ACSS2, RNF114, SULF2, NSFL1C, RAB5IF, TMX4, CTNNBL1, GPCPD1, CPXM1, SLC2A4RG, OTOR, PMEPA1, CASS4, EPPIN, APMAP, PAK5, RALGAPB, JPH2, SALL4, ZNFX1, RALGAPA2, KAT14, RAB22A, SLC24A3, NDRG3, SLC12A5, ZNF512B, MAVS, PREX1, EBF4, COL20A1, MYH7B, NCOA5, TRIB3, TP53INP2, RPRD1B, OVOL2, TGIF2, CDH26, FASTKD5, KCNK15, DHX35, MANBAL, NAPB, SLC17A9, ELMO2, ZNF335, ANKEF1, LINC01749, PCIF1, FAM217B, NECAB3, GFRA4, CDH22, GZF1, VPS16, PCED1A, SLC13A3, LPIN3, MRPS26, DDRGK1, GDAP1L1, LINC01260, FNDC11, NDUFAF5, PPDPF, LINC01711, ZNF343, TTPAL, BIRC7, NPEPL1, ACTR5, SYNDIG1, DSN1, NRSN2, PANK2, DNAJC5, ADAM33, PABPC1L, BPIFB2, SEL1L2, TUBB1, ZBP1, SLC2A10, HM13, PDRG1, FAM83D, DEFB126, CABLES2, FAM110A, DYNLRB1, ITCH, C20orf57, SLC4A11, SLA2, CHD6, MCM8, ACSS1, MAP1LC3A, PARD6B, ZGPAT, COX4I2, ZNF341, TOX2, ZCCHC3, MYLK2, HELZ2, KIAA1755, SCRT2, EMILIN3, SYS1, WFDC8, SNX21, ZSWIM1, GGTLC1, MGME1, DTD1, BPIFB1, TP53RK, SLC52A3, DNTTIP1, FAM210B, PHACTR3, HSPA12B, DEFB118, TMC2, BHLHE23, NKAIN4, VSTM2L, SNHG11, FITM2, WFDC12, SPATA25
See casesPathogenic
(Oct 19, 2010)
no assertion criteria provided
45.
GRCh37:
Chr20:6598342-13373206
GRCh38:
Chr20:6617695-13392559
See casesPathogenic
(Nov 30, 2010)
no assertion criteria provided
46.
GRCh37:
Chr20:60747-29462103
GRCh38:
Chr20:80106-30227427
ADRA1D, JAG1, AVP, BFSP1, BMP2, ENTPD6, CDC25B, CENPB, CHGB, CSNK2A1, CST1, CST2, CST3, CST4, CST5, FKBP1A, GNRH2, FOXA2, IDH3B, INSM1, ITPA, NKX2-2, OXT, PAX1, PCNA, PCSK2, PDYN, PLCB4, PRNP, PTPRA, PYGB, RRBP1, SIGLEC1, SNAP25, SNRPB, SNRPB2, SOX12, SSTR4, TCF15, TGM3, THBD, ZNF133, MKKS, ATRN, CST7, CDS2, PSMF1, SNPH, LZTS3, RASSF2, GINS1, SLC23A2, CST8, SIRPB1, SEC23B, NOP56, RBCK1, POLR3F, RBBP9, DSTN, RNF24, XRN2, UBOX5, BTBD3, CD93, NINL, PLCB1, PRND, FLRT3, LAMP5, SPEF1, C20orf194, CFAP61, ABHD12, ZNF337, RNU105B, SNORD57, SNORD56, SDCBP2, SNX5, TMEM230, LINC00652, NXT1, VSX1, NAA20, CRNKL1, ANGPT4, ESF1, TRMT6, HAO1, RIN2, SMOX, CRLS1, C20orf27, DZANK1, SPTLC3, AP5S1, TMEM74B, SIRPG, FERMT1, KIF16B, TASP1, KIZ, NSFL1C, TMX4, GPCPD1, CPXM1, OTOR, APMAP, PAK5, RALGAPA2, KAT14, SLC24A3, MAVS, EBF4, TRIB3, OVOL2, FASTKD5, NAPB, ANKEF1, GFRA4, GZF1, VPS16, PCED1A, MRPS26, DDRGK1, NDUFAF5, ZNF343, SYNDIG1, NRSN2, PANK2, ADAM33, SEL1L2, DEFB126, FAM110A, SLC4A11, MCM8, ACSS1, ZCCHC3, SCRT2, GGTLC1, MGME1, DTD1, SLC52A3, HSPA12B, TMC2, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, CSTL1, CST9L, CST9, C20orf96, MACROD2, SRXN1, LINC00261, BANF2, NANP, MACROD2-IT1, DEFB127, SCP2D1, ISM1, CST11, DEFB129, SIRPA, STK35, PRNT, LINC00654, SHLD1, LRRN4, LINC00656, DEFB125, DEFB128, SIRPB2, LOC284788, LOC284798, FAM182A, MIR663AHG, LOC339593, RSPO4, TGM6, LOC388780, SMIM26, DEFB132, C20orf202, LINC01721, MIR103A2, LINC00851, LOC613266, RAD21L1, LOC643406, NKX2-4, SNORA51, SNORD17, SNORD86, SNORD110, MIR663A, PDYN-AS1, LINC01433, C20orf187, LINC00687, FAM182B, SNORD119, C20orf78, LOC100130264, SNAP25-AS1, UBOX5-AS1, LOC100134868, LINC01432, LINC00653, TMEM239, MIR1292, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3192, LINC01723, ISM1-AS1, LINC01431, NRSN2-AS1, SDCBP2-AS1, LINC00658, FKBP1A-SDCBP2, PLCB1-IT1, LOC101926889, LOC101926935, LINC01733, SIRPG-AS1, LINC01730, LINC01729, MCM8-AS1, CASC20, LINC01428, LINC01751, LINC01706, LAMP5-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, LOC101929526, KIZ-AS1, LINC01726, LINC01727, LINC01427, LNCNEF, MIR6869, MIR6870, MIR8062, LOC102606466, ZNF337-AS1, LOC105372493, LINC01713, LINC00237, LINC01747, LOC105372582, LOC105379477, FAM242B, LOC106799846, LOC107457602, LOC107987276, LOC108178991, LOC108178992, LOC108228200, LOC108228202, LOC109363676, LOC109504727, LOC110120914, LOC110120921, LOC110120949, LOC110121332, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, LOC111465001, LOC112268271
See casesPathogenic
(Apr 30, 2010)
no assertion criteria provided
47.
GRCh37:
Chr20:70580-19052139
GRCh38:
Chr20:89939-19071495
LAMP5, SPEF1, C20orf194, RNU105B, SNORD57, SNORD56, SDCBP2, SNX5, TMEM230, LINC00652, ANGPT4, ESF1, TRMT6, HAO1, SMOX, CRLS1, C20orf27, DZANK1, SPTLC3, AP5S1, TMEM74B, SIRPG, FERMT1, KIF16B, TASP1, NSFL1C, TMX4, GPCPD1, CPXM1, OTOR, PAK5, KAT14, MAVS, EBF4, TRIB3, OVOL2, FASTKD5, ANKEF1, GFRA4, VPS16, PCED1A, MRPS26, DDRGK1, NDUFAF5, ZNF343, NRSN2, PANK2, ADAM33, SEL1L2, DEFB126, FAM110A, SLC4A11, MCM8, ZCCHC3, SCRT2, MGME1, DTD1, SLC52A3, HSPA12B, TMC2, TBC1D20, SIRPD, C20orf141, PROKR2, SLX4IP, C20orf96, MACROD2, SRXN1, BANF2, MACROD2-IT1, DEFB127, SCP2D1, ISM1, DEFB129, SIRPA, STK35, PRNT, LINC00654, SHLD1, LRRN4, DEFB125, DEFB128, SIRPB2, LOC339593, RSPO4, TGM6, LOC388780, SMIM26, DEFB132, C20orf202, MIR103A2, LINC00851, LOC613266, RAD21L1, LOC643406, SNORA51, SNORD17, SNORD86, SNORD110, PDYN-AS1, LINC01433, C20orf187, LINC00687, SNORD119, C20orf78, SNAP25-AS1, UBOX5-AS1, LINC00653, TMEM239, MIR1292, MIR103B2, PCNA-AS1, PET117, MACROD2-AS1, MIR3192, LINC01723, ISM1-AS1, NRSN2-AS1, SDCBP2-AS1, LINC00658, FKBP1A-SDCBP2, PLCB1-IT1, SIRPG-AS1, LINC01730, LINC01729, MCM8-AS1, CASC20, LINC01428, LINC01751, LINC01706, LAMP5-AS1, PARAL1, LINC01752, LOC101929413, LINC01722, LOC101929526, MIR6869, MIR6870, MIR8062, LOC102606466, LOC105372493, LINC01713, LOC106799846, LOC107457602, LOC108178991, LOC108178992, LOC109363676, LOC109504727, LOC110120914, LOC110121338, LOC111240478, LOC111240479, LOC111365169, LOC111365189, ADRA1D, JAG1, AVP, BFSP1, BMP2, CDC25B, CENPB, CHGB, CSNK2A1, FKBP1A, GNRH2, IDH3B, ITPA, OXT, PCNA, PCSK2, PDYN, PLCB4, PRNP, PTPRA, RRBP1, SIGLEC1, SNAP25, SNRPB, SNRPB2, SOX12, TCF15, TGM3, ZNF133, MKKS, ATRN, CDS2, PSMF1, SNPH, LZTS3, RASSF2, SLC23A2, SIRPB1, SEC23B, NOP56, RBCK1, POLR3F, RBBP9, DSTN, RNF24, UBOX5, BTBD3, PLCB1, PRND, FLRT3
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
48.
GRCh37:
Chr20:70580-25678200
GRCh38:
Chr20:89939-25697564