ClinVar Miner

Variants from Genetics Department, Polish Mother's Memorial Hospital Research Institute

Location: United States  Primary collection method: research
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign total
32 43 33 5 0 113

Gene and significance breakdown #

Total genes and gene combinations: 59
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Gene or gene combination pathogenic likely pathogenic uncertain significance likely benign total
COL1A1 17 11 1 0 29
COL1A2 1 14 0 0 15
FGFR1 0 2 1 0 3
L1CAM 1 2 0 0 3
LRP5 0 2 1 0 3
PROKR2 0 0 3 0 3
ANOS1 1 1 0 0 2
CNTNAP2 0 0 1 1 2
SEMA7A 0 0 1 1 2
SERPINF1 2 0 0 0 2
AATF, ACACA, C17orf78, DDX52, DHRS11, DUSP14, GGNBP2, HNF1B, LHX1, LHX1-DT, LOC105371756, LOC110120862, LOC110120863, LOC112529910, LOC125177462, LOC125177463, LOC126862543, LOC126862544, LOC126862545, LOC126862546, LOC126862547, LOC126862548, LOC126862549, LOC129390865, LOC129390866, LOC129390867, MIR2909, MIR378J, MRM1, MYO19, PIGW, SNORA90, SYNRG, TADA2A, TBC1D3K, ZNHIT3 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC102723692, LOC111365165, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC112340383, LOC112340385, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, LOC126862301, LOC126862302, LOC126862303, LOC126862304, LOC126862305, LOC129390771, LOC129390772, LOC130058560, LOC130058561, LOC130058562, LOC130058563, LOC130058564, LOC130058565, LOC130058566, LOC130058567, LOC130058568, LOC130058569, LOC130058570, LOC130058571, LOC130058572, LOC130058573, LOC130058574, LOC130058575, LOC130058576, LOC130058577, LOC130058578, LOC130058579, LOC130058580, LOC131696449, MARF1, MIR3179-2, MIR3179-3, MIR3179-4, MIR3180-2, MIR3180-3, MIR3670-2, MIR3670-3, MIR3670-4, MIR484, MIR6506, MIR6511A2, MIR6511A3, MIR6511A4, MIR6770-2, MIR6770-3, MPV17L, MPV17L-BMERB1, MYH11, NDE1, NOMO2, NOMO3, NPIPA5, NPIPA6, NPIPA7, NPIPA8, NPIPA9, XYLT1 1 0 0 0 1
ABCC1, ABCC6, BMERB1, CEP20, LOC112340379, LOC112340380, LOC112340381, LOC112340382, LOC113939949, LOC121587532, LOC121847972, LOC121847973, LOC125146419, LOC125146420, LOC125146421, LOC126862298, LOC126862299, LOC126862300, MARF1, MIR484, MIR6506, MPV17L, MPV17L-BMERB1, MYH11, NDE1 1 0 0 0 1
AFG3L2, CIDEA, LOC105371998, LOC110121440, LOC125368550, LOC130062194, LOC130062195, LOC130062196, LOC130062197, LOC130062198, PRELID3A, SPIRE1, TUBB6 0 0 1 0 1
AMACR, C1QTNF3, C1QTNF3-AMACR, LOC121725199, LOC121725200, LOC123493286, LOC126807353, LOC129389270, LOC129993780, LOC129993781, LOC129993782, LOC129993783, LOC129993784, LOC129993785, LOC129993786, LOC129993787, RAI14, RAI14-DT, SLC45A2 0 0 1 0 1
ANKRD6, GABRR1, GABRR2, LOC113175020, LOC116183066, LOC121740658, LOC123775382, LOC126859737, LOC126859738, LOC126859739, LOC129389574, LOC129389575, LOC129389576, LOC129389577, LOC129389578, LOC129996811, LOC129996812, LOC129996813, LOC129996814, LOC129996815, LOC129996816, LOC129996817, LOC129996818, LOC129996819, LOC129996820, LOC129996821, LOC129996822, LOC129996823, LOC129996824, LOC129996825, LOC129996826, LOC129996827, LOC129996828, LOC129996829, LOC129996830, LOC129996831, LOC129996832, LYRM2, MDN1, PM20D2, PNRC1, PNRC1-DT, RNGTT, RRAGD, SRSF12, UBE2J1 0 0 1 0 1
ANO9, B4GALNT4, CDHR5, DEAF1, DRD4, EPS8L2, HRAS, IFITM1, IFITM3, IRF7, LMNTD2, LOC116216126, LOC124418409, LOC124418411, LOC126861108, LOC126861109, LOC129390246, LOC130005050, LOC130005051, LOC130005052, LOC130005053, LOC130005054, LOC130005055, LOC130005056, LOC130005057, LOC130005058, LOC130005059, LOC130005060, LOC130005061, LOC130005062, LOC130005063, LOC130005064, LOC130005065, LOC130005066, LOC130005067, LOC130005068, LOC130005069, LOC130005070, LOC130005071, LOC130005072, LOC130005073, LOC130005074, LOC130005075, LOC130005076, LOC130005077, LOC130005078, LOC130005079, LOC132090831, LOC143666, LRRC56, MIR210, MIR210HG, PHRF1, PKP3, PTDSS2, RASSF7, RNH1, SCT, SIGIRR, TMEM80 0 0 1 0 1
ARHGAP11A-SCG5, AVEN, CHRM5, EMC4, EMC7, FMN1, GOLGA8A, GREM1, KATNBL1, LOC125078054, LOC126862090, LOC126862091, LOC126862092, LOC126862093, LOC126862094, LOC126862095, LOC126862096, LOC126862097, LOC126862098, LOC129390682, LOC129390683, LOC130056728, LOC130056729, LOC130056730, LOC130056731, LOC130056732, LOC130056733, LOC130056734, LOC130056735, LOC130056736, LOC130056737, LOC130056738, LOC130056739, LOC130056740, LOC130056741, LOC130056742, LOC130056743, LOC130056744, LOC130056745, LOC130056746, LOC130056747, LOC130056748, LOC130056749, LOC130056750, LOC130056751, LOC130056752, LOC130056753, LOC130056754, LOC130056755, LOC130056756, LOC130056757, LOC130056758, LOC132090300, LPCAT4, MIR1233-1, NOP10, NUTM1, PGBD4, RYR3, RYR3-DT, SCG5, SLC12A6 0 0 1 0 1
ASZ1, CAPZA2, CAV1, CAV2, CFTR, COMETT, FOXP2, LINC01392, LINC01393, LOC100506489, LOC102724434, LOC107986838, LOC110120618, LOC110120619, LOC110120753, LOC110120810, LOC110120813, LOC110120822, LOC110120983, LOC110121022, LOC110121207, LOC110121252, LOC111365177, LOC111674463, LOC111674464, LOC111674465, LOC111674466, LOC111674467, LOC111674472, LOC111674473, LOC111674474, LOC111674475, LOC111674476, LOC111674478, LOC113219431, LOC113219432, LOC113219433, LOC113219434, LOC113219436, LOC113219437, LOC113219438, LOC113219439, LOC113219440, LOC113219441, LOC113219442, LOC113219443, LOC113219444, LOC113219445, LOC113219446, LOC113219447, LOC113219471, LOC113219472, LOC113633874, LOC113633875, LOC113633876, LOC113633877, LOC113664106, LOC113664107, LOC113687190, LOC116186911, LOC121175361, LOC121175362, LOC121740694, LOC123956212, LOC123956213, LOC123956214, LOC123956215, LOC126860154, LOC126860155, LOC126860156, LOC126860157, LOC126860158, LOC126860159, LOC126860160, LOC129389847, LOC129999146, LOC129999147, LOC129999148, LOC129999149, LOC129999150, LOC129999151, LOC129999152, LOC129999153, LOC129999154, LOC129999155, LOC129999156, LOC129999157, LOC129999158, LOC129999159, LOC129999160, LOC129999161, LOC129999162, LOC129999163, LOC129999164, LOC129999165, LOC129999166, LOC129999167, LOC129999168, LOC129999169, LOC129999170, LOC129999171, LOC129999172, LOC129999173, LOC129999174, LOC129999175, LOC129999176, LOC129999177, LOC129999178, LOC129999179, LOC129999180, LOC129999181, LOC129999182, LOC129999183, LOC129999184, LOC129999185, LOC129999186, LOC129999187, LOC129999188, MDFIC, MET, MIR3666, MIR6132, PPP1R3A, SNORA25B, ST7, ST7-OT3, ST7-OT4, TES, TFEC, WNT2 1 0 0 0 1
ATP2A1, ATXN2L, CD19, LAT, LOC112340393, LOC129390780, LOC129390781, LOC130058735, LOC130058736, LOC130058737, LOC130058738, LOC130058739, LOC130058740, LOC130058741, LOC130058742, LOC130058743, LOC130058744, LOC130058745, LOC130058746, LOC130058747, LOC130058748, LOC130058749, LOC130058750, LOC130058751, LOC130058752, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM 1 0 0 0 1
BDP1, CARTPT, LINC02197, LOC113002591, LOC121079944, LOC121079945, LOC121725207, LOC123493335, LOC123497905, LOC129389296, LOC129994020, LOC129994021, LOC129994022, LOC129994023, LOC129994024, LOC129994025, LOC129994026, MAP1B, MCCC2, MIR4803, MRPS27, PTCD2 0 0 1 0 1
BMP2K, BMP2K-DT, GK2, LINC00989, LINC01088, LOC101928893, LOC112997535, LOC116158500, LOC129389220, LOC129992731, LOC129992732, LOC129992733, LOC129992734, LOC129992735, LOC129992736, NAA11, PAQR3 0 0 1 0 1
BRAF, LOC129999507, MRPS33 0 0 1 0 1
BRWD3 0 1 0 0 1
CBX3, HNRNPA2B1, LINC02981, LOC110120765, LOC121175338, LOC123956119, LOC129389771, LOC129389772, LOC129998136, LOC129998137, LOC129998138, LOC129998139, LOC129998140, LOC129998141, LOC129998142, LOC129998143, LOC129998144, LOC129998145, LOC129998146, LOC129998147, LOC129998148, LOC129998149, LOC129998150, NFE2L3, SNX10 0 0 1 0 1
CCDC141 0 0 1 0 1
CDK2AP1, KMT5A, LOC112163534, LOC124849272, LOC124849273, LOC129390584, LOC130009080, LOC130009081, LOC130009082, LOC130009083, LOC130009084, LOC130009085, LOC130009086, LOC130009087, LOC130009088, LOC130009089, LOC130009090, LOC130009091, LOC130009092, LOC130009093, LOC130009094, LOC130009095, LOC130009096, LOC130009097, LOC130009098, LOC130009099, LOC130009100, LOC130009101, LOC130009102, LOC130009103, LOC130009104, LOC130009105, LOC130009106, LOC130009107, LOC130009108, LOC130009109, LOC130009110, MIR3908, MIR8072, MPHOSPH9, MTRFR, PITPNM2, RILPL1, RILPL2, SBNO1, SNRNP35 0 0 1 0 1
CETN2, LOC126863347, LOC130068811, NSDHL 0 1 0 0 1
CHD7 1 0 0 0 1
COL1A1, LOC126862586 0 1 0 0 1
CREM, CUL2, LOC129390164, LOC129390165, LOC130003671, LOC130003672, LOC130003673, LOC130003674, LOC130003675, LOC130003676, LOC130003677, LOC130003678, LOC130003679, LOC130003680, MIR3611 0 0 0 1 1
CYFIP1, LOC112272575, LOC112272576, LOC126862074, LOC130056707, LOC130056708, LOC130056709, LOC130056710, LOC130056711, LOC130056712, LOC130056713, LOC130056714, LOC130056715, LOC130056716, LOC130056717, LOC130056718, LOC283683, NIPA1, NIPA2, TUBGCP5 1 0 0 0 1
FAM170A, LOC129994462 0 1 0 0 1
FKBP10 1 0 0 0 1
FOXP1, LOC110121007, MIR1284 0 0 1 0 1
GRIN2A, HAPSTR1, LINC01177, LINC01195, LINC02177, LOC101927026, LOC111776217, LOC112486224, LOC112486225, LOC112486226, LOC121530614, LOC125146397, LOC125146399, LOC125146400, LOC125146401, LOC126862284, LOC126862285, LOC130058405, LOC130058406, LOC130058407, LOC130058408, LOC130058409, LOC130058410, LOC130058411, LOC130058412, LOC130058413, LOC130058414, LOC130058415, LOC130058416, LOC130058417, LOC130058418, LOC130058419, LOC132205950, USP7 1 0 0 0 1
IL1RAPL1 0 0 1 0 1
KIAA1210, LINC03098, LOC114022705, LOC125467776, LOC125467777, LOC125467778, LOC130068586, LOC130068587, LOC130068588, LOC130068589, LOC130068590, LOC130068591, LOC130068592, LOC130068593, LOC130068594, LOC130068595, LOC130068596, LOC130068597, LOC130068598, LOC130068599, LOC130068600, LOC130068601, LOC130068602, LOC130068603, LOC130068604, LOC130068605, LOC130068606, LOC130068607, LOC130068608, LOC130068609, LOC130068610, MIR766, NKRF, PGRMC1, SEPTIN6, SLC25A43, SLC25A5, STEEP1, UBE2A 0 0 1 0 1
LDLR 0 1 0 0 1
LHB 0 0 1 0 1
LIMS3, LIMS3-LOC440895, LIMS4, LINC01106, LINC01123, LOC107305686, LOC112695115, LOC126806305, LOC126806306, LOC128966597, LOC129388899, LOC129934545, LOC129934546, LOC129934547, LOC129934548, LOC129934549, LOC129934550, LOC129934551, LOC129934552, LOC129934553, LOC129934554, LOC129934555, LOC129934556, MALL, MIR4266, MIR4267, MIR4436B1, MIR4436B2, MTLN, NPHP1, RANBP2, RGPD5, SEPTIN10, SH3RF3, SOWAHC 0 0 1 0 1
LINC00871, LOC126861932, LOC129390627, LOC129390628, LOC130055530, MDGA2, RPL10L 0 0 1 0 1
LINC01060, LINC02374, LINC02434, LINC02492, LINC02508, LINC02514, LINC02515, LOC101930028, LOC105377603, LOC121056755, LOC126807261, LOC126807262, LOC126807263, LOC126807264, LOC126807265, LOC126807266, LOC126807267, LOC126807268, LOC126807269, LOC126807270, LOC126807271, LOC129389253, LOC132089108, LOC132089109, LOC132089110, LOC339975, TRIML1, TRIML2, ZFP42 0 0 0 1 1
LINC01724, LOC121725067, LOC126805963, LOC129388707, LOC129388708, LOC129388709, LOC129388710, LOC129388711, LOC129388712, LOC129388713, LOC129388714, LOC129388715, LOC129388716, LOC129388717, LOC129388718, LOC129388719, LOC129932151, LOC129932152, LOC132088601, LOC132088602, LOC132090670 0 0 1 0 1
LOC110121071, LOC129388861, MIR8485, NRXN1 0 1 0 0 1
LOC123924905, LOC123924906, LOC123924907, LOC126859945, LOC126859946, LOC129389750, LOC129389751, LOC129998001, LOC129998002 0 0 0 1 1
LOC125177406, LOC129390821, LOC130059962, LOC130059963, LOC130059964, LOC130059965, LOC130059966, METTL16, PAFAH1B1 0 1 0 0 1
LOC126860797, NSMF 0 0 1 0 1
LOC129932982, MYT1L 0 1 0 0 1
LOC132088905, NAALADL2 0 0 1 0 1
NRXN1 0 0 1 0 1
P4HB 0 0 1 0 1
PCDH19 0 0 1 0 1
POLR2F, SOX10 0 1 0 0 1
PPARG 0 1 0 0 1
SRA1 0 0 1 0 1
TACR3 1 0 0 0 1
THRB 0 1 0 0 1
WNT1 0 0 1 0 1

Condition and significance breakdown #

Total conditions: 21
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Condition pathogenic likely pathogenic uncertain significance likely benign total
Osteogenesis imperfecta 20 26 2 0 48
Autism spectrum disorder 7 6 20 4 37
Hypogonadotropic hypogonadism 2 with or without anosmia 0 2 1 0 3
Hypogonadotropic hypogonadism 3 with or without anosmia 0 0 3 0 3
X-linked hydrocephalus syndrome 1 2 0 0 3
Hypogonadotropic hypogonadism 1 with or without anosmia 1 1 0 0 2
John Milton Hagen blood group system 0 0 1 1 2
Osteoporosis with pseudoglioma 0 2 0 0 2
Autosomal dominant osteopetrosis 1 0 0 1 0 1
Bruck syndrome 1 0 0 0 1
Cole-Carpenter syndrome 0 0 1 0 1
Hypercholesterolemia, familial, 1 0 1 0 0 1
Hypogonadism with anosmia 0 0 1 0 1
Hypogonadotropic hypogonadism 11 with or without anosmia 1 0 0 0 1
Hypogonadotropic hypogonadism 5 with or without anosmia 1 0 0 0 1
Hypogonadotropic hypogonadism 7 with or without anosmia 0 0 1 0 1
Hypogonadotropic hypogonadism 9 with or without anosmia 0 0 1 0 1
Isolated lutropin deficiency 0 0 1 0 1
PPARG-related familial partial lipodystrophy 0 1 0 0 1
Thyroid hormone resistance, generalized, autosomal dominant 0 1 0 0 1
Waardenburg syndrome type 2E 0 1 0 0 1

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