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Items: 1 to 100 of 219

VariationLocationGene(s)Condition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr1:909238-24706269
ALPL, RERE, C1QA, C1QB, C1QC, CA6, CAPZB, CASP9, TNFRSF8, CDA, CDK11B, CDC42, CLCN6, CLCNKA, CLCNKB, CNR2, CORT, DDOST, DFFA, DFFB, DVL1, E2F2, ECE1, MEGF6, EPHA2, ENO1, EPHA8, EPHB2, MTOR, FUCA1, GABRD, GALE, GNB1, ZBTB48, HMGCL, HSPG2, HTR1D, HTR6, ID3, TNFRSF9, MFAP2, MTHFR, NBL1, NPPA, NPPB, PAX7, PEX10, PEX14, PGD, PIK3CD, PLA2G2A, PLA2G5, PLOD1, EXOSC10, PRKCZ, RAP1GAP, RNU1-4, RPL11, RPL22, RSC1A1, SCNN1D, SDHB, SKI, SLC2A5, SRM, TCEA3, ELOA, TNFRSF1B, TP73, TRE-TTC3-1, TRNAG1, TNFRSF4, ZBTB17, LUZP1, PRDM2, MMP23B, KCNAB2, AKR7A2, ALDH4A1, EIF4G3, TNFRSF25, TNFRSF14, TNFRSF18, PER3, DHRS3, VAMP3, H6PD, ISG15, PLCH2, CROCC, CEP104, KLHL21, SLC35E2A, ZBTB40, MFN2, CELA3A, ANGPTL7, HNRNPR, UBE4B, MAD2L2, PDPN, MASP2, SRSF10, UTS2, RER1, MST1L, PADI2, LYPLA2, PARK7, CTRC, ACOT7, CLSTN1, AKR7A3, SPEN, KDM1A, EMC1, KIF1B, PLEKHM2, OTUD3, KAZN, CAMTA1, DNAJC16, UBR4, ATP13A2, TARDBP, CELA3B, ICMT, PADI4, CHD5, SZRD1, FBXO2, FBXO6, PLA2G2D, HSPB7, ARHGEF16, SSU72, UBIAD1, PADI1, PLA2G2E, WRAP73, SLC45A1, HP1BP3, CELA2B, SDF4, MRTO4, PADI3, ERRFI1, WNT4, FBXO42, RNF186, MXRA8, HES2, FBLIM1, PQLC2, CASZ1, INTS11, C1orf159, AURKAIP1, MRPL20, TMEM51, ARHGEF10L, VPS13D, ATAD3A, PANK4, CAMK2N1, ASAP3, PNRC2, NBPF1, NECAP2, DNAJC11, RCC2, AJAP1, CTNNBIP1, AGTRAP, PITHD1, PLEKHG5, LRRC47, DISP3, KIF17, HES4, GRHL3, IL22RA1, MIIP, CELA2A, PRDM16, PLA2G2F, NMNAT1, VWA1, PINK1, PRAMEF1, PRAMEF2, NADK, EFHD2, MMEL1, CPLANE2, MUL1, NOL9, AGMAT, MORN1, GPR157, SPSB1, CPTP, ZNF436, TAS1R2, TAS1R1, ACTL8, CCNL2, ESPN, TAS1R3, ATAD3B, PLEKHN1, USP48, NBPF3, SLC25A33, DDI2, LZIC, IGSF21, CFAP74, KIAA2013, THAP3, STPG1, C1orf158, FBXO44, FHAD1, RBP7, ACAP3, UBE2J2, LRRC38, AADACL3, PUSL1, B3GALT6, IFFO2, TPRG1L, PRXL2B, MYOM3, KLHDC7A, VWA5B1, UBXN10, ARHGEF19, ACTRT2, MIB2, C1orf127, PHF13, CCDC27, SRARP, SLC2A7, CALML6, IFNLR1, FAM43B, TMEM201, FAAP20, ATAD3C, AKR7L, TTLL10, TMCO4, MDS2, NPHP4, C1orf167, SLC25A34, C1orf174, TMEM240, TMEM52, AADACL4, PRAMEF5, HNRNPCL1, PRAMEF9, PRAMEF10, FAM131C, PADI6, DRAXIN, SPATA21, AGRN, CENPS, GPR153, C1QTNF12, HES5, SMIM1, RNF207, TMEM82, HES3, PRAMEF12, PRAMEF8, PRAMEF18, PRAMEF17, PLA2G2C, PRAMEF4, PRAMEF13, SH2D5, RNF223, LDLRAD2, MIR200A, MIR200B, MIR34A, PRAMEF11, PRAMEF6, HNRNPCL2, MICOS10, ANKRD65, PRAMEF7, MIR429, TMEM88B, FNDC10, PRAMEF19, PRAMEF20, LACTBL1, PRAMEF22, PRAMEF15, PRAMEF16, MIR551A, CDK11A, SLC35E2B, TEX46, LINC01783, TRQ-CTG14-1, TTC34, ENO1-AS1, CENPS-CORT, MICOS10-NBL1
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
2.
GRCh37:
Chr1:17555508-24706269
Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria provided
3.
GRCh37:
Chr1:21880494
GRCh38:
Chr1:21554001
ALPLHypophosphatasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
4.
GRCh37:
Chr1:21880592
GRCh38:
Chr1:21554099
ALPLInfantile hypophosphatasiaPathogenic
(Feb 26, 2018)
no assertion criteria provided
5.
GRCh37:
Chr1:21880614
GRCh38:
Chr1:21554121
ALPLnot specifiedUncertain significance
(Jan 13, 2016)
criteria provided, single submitter
6.
GRCh37:
Chr1:21880620-21880623
GRCh38:
Chr1:21554127-21554130
ALPLInfantile hypophosphatasia, Skeletal dysplasiaPathogenic/Likely pathogenic
(Mar 15, 2016)
criteria provided, multiple submitters, no conflicts
7.
GRCh37:
Chr1:21880635
GRCh38:
Chr1:21554142
ALPLInfantile hypophosphatasiaUncertain significance
(Feb 5, 2018)
criteria provided, single submitter
8.
GRCh37:
Chr1:21880637
GRCh38:
Chr1:21554144
ALPLInfantile hypophosphatasiaLikely pathogenic
(Jan 7, 2016)
criteria provided, single submitter
9.
GRCh37:
Chr1:21887144
GRCh38:
Chr1:21560651
ALPLInfantile hypophosphatasiaLikely pathogenic
(Apr 28, 2017)
criteria provided, single submitter
10.
GRCh37:
Chr1:21887145
GRCh38:
Chr1:21560652
ALPLInfantile hypophosphatasiaLikely pathogenic
(Dec 28, 2015)
criteria provided, single submitter
11.
GRCh37:
Chr1:21887155
GRCh38:
Chr1:21560662
ALPLInfantile hypophosphatasiaPathogenic
(Oct 15, 1992)
no assertion criteria provided
12.
GRCh37:
Chr1:21887164
GRCh38:
Chr1:21560671
ALPLHypophosphatasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
13.
GRCh37:
Chr1:21887171
GRCh38:
Chr1:21560678
ALPLInfantile hypophosphatasiaLikely pathogenic
(Oct 5, 2016)
criteria provided, single submitter
14.
GRCh37:
Chr1:21887186
GRCh38:
Chr1:21560693
ALPLInfantile hypophosphatasiaLikely pathogenic
(Aug 5, 2016)
criteria provided, single submitter
15.
GRCh37:
Chr1:21887187
GRCh38:
Chr1:21560694
ALPLInfantile hypophosphatasiaLikely pathogenic
(Dec 9, 2015)
criteria provided, single submitter
16.
GRCh37:
Chr1:21887204
GRCh38:
Chr1:21560711
ALPLInfantile hypophosphatasiaLikely benign
(Nov 14, 2017)
criteria provided, single submitter
17.
GRCh37:
Chr1:21887217-21887220
GRCh38:
Chr1:21560729-21560731
ALPLInfantile hypophosphatasiaUncertain significance
(Apr 13, 2018)
criteria provided, single submitter
18.
GRCh37:
Chr1:21887231
GRCh38:
Chr1:21560738
ALPLInfantile hypophosphatasiaLikely benign
(Mar 14, 2017)
criteria provided, single submitter
19.
GRCh37:
Chr1:21887584-21887586
GRCh38:
Chr1:21561091-21561093
ALPLnot specifiedLikely benign
(Nov 21, 2017)
criteria provided, single submitter
20.
GRCh37:
Chr1:21887588
GRCh38:
Chr1:21561098
ALPLInfantile hypophosphatasiaLikely pathogenic
(Dec 4, 2017)
criteria provided, single submitter
21.
GRCh37:
Chr1:21887596
GRCh38:
Chr1:21561103
ALPLChildhood hypophosphatasia, Infantile hypophosphatasia, not provided
Uncertain significance
(Feb 17, 2017)
criteria provided, single submitter
22.
GRCh37:
Chr1:21887613-21887620
GRCh38:
Chr1:21561120-21561127
ALPLnot providedLikely pathogenic
(Jan 15, 2018)
criteria provided, single submitter
23.
GRCh37:
Chr1:21887619
GRCh38:
Chr1:21561126
ALPLInfantile hypophosphatasiaLikely pathogenic
(Jan 15, 2018)
criteria provided, single submitter
24.
GRCh37:
Chr1:21887620
GRCh38:
Chr1:21561127
ALPLInfantile hypophosphatasiaPathogenic
(Oct 15, 1992)
no assertion criteria provided
25.
GRCh37:
Chr1:21887623
GRCh38:
Chr1:21561130
ALPLInfantile hypophosphatasiaLikely pathogenic
(Aug 21, 2014)
criteria provided, single submitter
26.
GRCh37:
Chr1:21887631
GRCh38:
Chr1:21561140-21561143
ALPLInfantile hypophosphatasiaLikely pathogenic
(Jun 4, 2018)
criteria provided, single submitter
27.
GRCh37:
Chr1:21887635
GRCh38:
Chr1:21561142
ALPLnot specifiedUncertain significance
(Jul 15, 2016)
criteria provided, single submitter
28.
GRCh37:
Chr1:21887670
GRCh38:
Chr1:21561177
ALPLInfantile hypophosphatasiaUncertain significance
(Jan 9, 2017)
criteria provided, single submitter
29.
GRCh37:
Chr1:21887691
GRCh38:
Chr1:21561198
ALPLLow alkaline phosphataseLikely pathogenicno assertion criteria provided
30.
GRCh37:
Chr1:21887707
GRCh38:
Chr1:21561214
ALPLInfantile hypophosphatasiaLikely pathogenic
(Oct 3, 2016)
criteria provided, single submitter
31.
GRCh37:
Chr1:21889608
GRCh38:
Chr1:21563115
ALPLnot providedLikely pathogenic
(Jun 20, 2017)
criteria provided, single submitter
32.
GRCh37:
Chr1:21889623
GRCh38:
Chr1:21563130
ALPLInfantile hypophosphatasiaUncertain significance
(Sep 13, 2017)
criteria provided, single submitter
33.
GRCh37:
Chr1:21889628
GRCh38:
Chr1:21563135
ALPLOdontohypophosphatasiaPathogenic
(Aug 1, 2003)
no assertion criteria provided
34.
GRCh37:
Chr1:21889635
GRCh38:
Chr1:21563142
ALPLnot specified, not providedBenign/Likely benign
(Jan 17, 2018)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr1:21889635
GRCh38:
Chr1:21563142
ALPLnot specifiedBenign
(Jun 5, 2018)
criteria provided, single submitter
36.
GRCh37:
Chr1:21889639
GRCh38:
Chr1:21563146
ALPLInfantile hypophosphatasiaUncertain significance
(Dec 21, 2017)
criteria provided, single submitter
37.
GRCh37:
Chr1:21889640-21889645
GRCh38:
Chr1:21563147-21563152
ALPLnot providedUncertain significance
(Oct 17, 2017)
criteria provided, single submitter
38.
GRCh37:
Chr1:21889645
GRCh38:
Chr1:21563152
ALPLHypophosphatasia, not specifiedUncertain significance
(Sep 14, 2017)
criteria provided, single submitter
39.
GRCh37:
Chr1:21889651
GRCh38:
Chr1:21563158
ALPLAdult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
Odontohypophosphatasia, Hypophosphatasia, not provided
Pathogenic/Likely pathogenic
(Mar 2, 2017)
criteria provided, multiple submitters, no conflicts
40.
GRCh37:
Chr1:21889665-21889666
GRCh38:
Chr1:21563172-21563173
ALPLSkeletal dysplasiaPathogenic
(Mar 15, 2016)
criteria provided, single submitter
41.
GRCh37:
Chr1:21889673
GRCh38:
Chr1:21563180
ALPLInfantile hypophosphatasiaUncertain significance
(Nov 30, 2017)
criteria provided, single submitter
42.
GRCh37:
Chr1:21889696-21889697
GRCh38:
Chr1:21563204
ALPLInfantile hypophosphatasiaLikely pathogenic
(May 22, 2018)
criteria provided, single submitter
43.
GRCh37:
Chr1:21889700
GRCh38:
Chr1:21563207
ALPLnot providedLikely pathogenic
(Nov 27, 2017)
criteria provided, single submitter
44.
GRCh37:
Chr1:21889703
GRCh38:
Chr1:21563210
ALPLnot providedUncertain significance
(Oct 20, 2014)
criteria provided, single submitter
45.
GRCh37:
Chr1:21889705-21889706
GRCh38:
Chr1:21563212-21563213
ALPLInfantile hypophosphatasia, not providedPathogenic/Likely pathogenic
(Aug 24, 2016)
criteria provided, multiple submitters, no conflicts
46.
GRCh37:
Chr1:21889712
GRCh38:
Chr1:21563219
ALPLInfantile hypophosphatasiaUncertain significance
(May 4, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr1:21889712
GRCh38:
Chr1:21563219
ALPLChildhood hypophosphatasia, Infantile hypophosphatasia, Hypophosphatasia
Pathogenic/Likely pathogenic
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
48.
GRCh37:
Chr1:21889718
GRCh38:
Chr1:21563225
ALPLHypophosphatasia, not specifiedUncertain significance
(Nov 7, 2016)
criteria provided, multiple submitters, no conflicts
49.
GRCh37:
Chr1:21889727
GRCh38:
Chr1:21563234
ALPLInfantile hypophosphatasiaUncertain significance
(May 12, 2017)
criteria provided, single submitter
50.
GRCh37:
Chr1:21889729-21889730
GRCh38:
Chr1:21563239
ALPLInfantile hypophosphatasiaLikely pathogenic
(Oct 24, 2017)
criteria provided, single submitter
51.
GRCh37:
Chr1:21889741
GRCh38:
Chr1:21563248
ALPLnot providedUncertain significance
(Sep 12, 2017)
criteria provided, single submitter
52.
GRCh37:
Chr1:21889754
GRCh38:
Chr1:21563261
ALPLnot specifiedUncertain significance
(Nov 7, 2016)
criteria provided, single submitter
53.
GRCh37:
Chr1:21889760
GRCh38:
Chr1:21563267
ALPLHypophosphatasia, not specified, not provided
Benign/Likely benign
(Jul 14, 2017)
criteria provided, multiple submitters, no conflicts
54.
GRCh37:
Chr1:21889782
GRCh38:
Chr1:21563289
ALPLLow alkaline phosphataseUncertain significanceno assertion criteria provided
55.
GRCh37:
Chr1:21889789
GRCh38:
Chr1:21563296
ALPLHypophosphatasia, not specified, not provided
Benign/Likely benign
(Apr 24, 2017)
criteria provided, multiple submitters, no conflicts
56.
GRCh37:
Chr1:21890546
GRCh38:
Chr1:21564053
ALPLChildhood hypophosphatasia, Infantile hypophosphatasiaUncertain significance
(Nov 21, 2017)
criteria provided, single submitter
57.
GRCh37:
Chr1:21890558
GRCh38:
Chr1:21564065
ALPLInfantile hypophosphatasiaUncertain significance
(Apr 25, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr1:21890560
GRCh38:
Chr1:21564067
ALPLnot providedUncertain significance
(Jul 12, 2017)
criteria provided, single submitter
59.
GRCh37:
Chr1:21890583
GRCh38:
Chr1:21564090
ALPLInfantile hypophosphatasia, not providedLikely pathogenic
(Dec 21, 2017)
criteria provided, multiple submitters, no conflicts
60.
GRCh37:
Chr1:21890587
GRCh38:
Chr1:21564094
ALPLChildhood hypophosphatasia, Infantile hypophosphatasiaLikely pathogenic
(Jan 2, 2014)
criteria provided, single submitter
61.
GRCh37:
Chr1:21890590
GRCh38:
Chr1:21564097
ALPLInfantile hypophosphatasiaUncertain significance
(Mar 8, 2018)
criteria provided, single submitter
62.
GRCh37:
Chr1:21890591
GRCh38:
Chr1:21564098
ALPLLow alkaline phosphataseUncertain significanceno assertion criteria provided
63.
GRCh37:
Chr1:21890595
GRCh38:
Chr1:21564102
ALPLHypophosphatasiaLikely benign
(Jun 14, 2016)
criteria provided, single submitter
64.
GRCh37:
Chr1:21890596
GRCh38:
Chr1:21564103
ALPLInfantile hypophosphatasiaLikely pathogenic
(Aug 1, 2014)
criteria provided, single submitter
65.
GRCh37:
Chr1:21890603
GRCh38:
Chr1:21564110
ALPLInfantile hypophosphatasia, not providedLikely pathogenic
(Sep 12, 2017)
criteria provided, multiple submitters, no conflicts
66.
GRCh37:
Chr1:21890611
GRCh38:
Chr1:21564118
ALPLInfantile hypophosphatasia, Inborn genetic diseasesConflicting interpretations of pathogenicity
(May 3, 2018)
criteria provided, conflicting interpretations
67.
GRCh37:
Chr1:21890632
GRCh38:
Chr1:21564139
ALPLAdult hypophosphatasia, Childhood hypophosphatasia, Infantile hypophosphatasia,
Hypophosphatasia, not provided
Pathogenic/Likely pathogenic
(Oct 31, 2017)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr1:21890647
GRCh38:
Chr1:21564154
ALPLnot specifiedUncertain significance
(Jul 25, 2016)
criteria provided, single submitter
69.
GRCh37:
Chr1:21890671
GRCh38:
Chr1:21564178
ALPLnot providedUncertain significance
(Sep 16, 2018)
criteria provided, single submitter
70.
GRCh37:
Chr1:21890673
GRCh38:
Chr1:21564180
ALPLnot providedUncertain significance
(Jun 26, 2016)
criteria provided, single submitter
71.
GRCh37:
Chr1:21890681
GRCh38:
Chr1:21564188
ALPLInfantile hypophosphatasia, not providedPathogenic
(May 6, 2016)
criteria provided, single submitter
72.
GRCh37:
Chr1:21890690
GRCh38:
Chr1:21564197
ALPLInfantile hypophosphatasiaUncertain significance
(Feb 22, 2018)
criteria provided, single submitter
73.
GRCh37:
Chr1:21890709
GRCh38:
Chr1:21564216
ALPLHypophosphatasiaUncertain significance
(Jun 14, 2016)
criteria provided, single submitter
74.
GRCh37:
Chr1:21890710
GRCh38:
Chr1:21564217
ALPLInfantile hypophosphatasia, Hypophosphatasia, perinatal lethalPathogenic
(Jan 2, 2017)
criteria provided, single submitter
75.
GRCh37:
Chr1:21894586
GRCh38:
Chr1:21568093
ALPLInfantile hypophosphatasiaUncertain significance
(Jan 3, 2017)
criteria provided, single submitter
76.
GRCh37:
Chr1:21894597-21894598
GRCh38:
Chr1:21568105
ALPLInfantile hypophosphatasiaUncertain significance
(Nov 17, 2017)
criteria provided, single submitter
77.
GRCh37:
Chr1:21894606
GRCh38:
Chr1:21568113
ALPLInfantile hypophosphatasiaUncertain significance
(Oct 17, 2017)
criteria provided, single submitter
78.
GRCh37:
Chr1:21894609
GRCh38:
Chr1:21568116
ALPLInfantile hypophosphatasiaUncertain significance
(May 31, 2018)
criteria provided, single submitter
79.
GRCh37:
Chr1:21894610
GRCh38:
Chr1:21568117
ALPLInfantile hypophosphatasiaLikely pathogenic
(Jan 28, 2016)
criteria provided, single submitter
80.
GRCh37:
Chr1:21894615
GRCh38:
Chr1:21568122
ALPLInfantile hypophosphatasiaLikely pathogenic
(Oct 9, 2014)
criteria provided, single submitter
81.
GRCh37:
Chr1:21894616
GRCh38:
Chr1:21568123
ALPLnot providedLikely pathogenic
(Mar 24, 2016)
criteria provided, single submitter
82.
GRCh37:
Chr1:21894618
GRCh38:
Chr1:21568125
ALPLInfantile hypophosphatasiaUncertain significance
(Jan 9, 2017)
criteria provided, single submitter
83.
GRCh37:
Chr1:21894621
GRCh38:
Chr1:21568128
ALPLnot providedUncertain significance
(Mar 30, 2016)
criteria provided, single submitter
84.
GRCh37:
Chr1:21894682
GRCh38:
Chr1:21568189
ALPLnot providedUncertain significance
(Mar 16, 2016)
criteria provided, single submitter
85.
GRCh37:
Chr1:21894692
GRCh38:
Chr1:21568199
ALPLnot specifiedLikely benigncriteria provided, single submitter
86.
GRCh37:
Chr1:21894694
GRCh38:
Chr1:21568201
ALPLChildhood hypophosphatasia, Infantile hypophosphatasia, Odontohypophosphatasia,
not provided
Conflicting interpretations of pathogenicity
(Jun 29, 2017)
criteria provided, conflicting interpretations
87.
GRCh37:
Chr1:21894705
GRCh38:
Chr1:21568212
ALPLnot specifiedUncertain significance
(Nov 7, 2016)
criteria provided, single submitter
88.
GRCh37:
Chr1:21894730
GRCh38:
Chr1:21568237
ALPLnot specifiedUncertain significance
(Aug 4, 2016)
criteria provided, single submitter
89.
GRCh37:
Chr1:21894735
GRCh38:
Chr1:21568242
ALPLHypophosphatasia, not specifiedBenign
(Jun 14, 2016)
criteria provided, multiple submitters, no conflicts
90.
GRCh37:
Chr1:21894739
GRCh38:
Chr1:21568246
ALPLInfantile hypophosphatasiaLikely pathogenic
(Apr 9, 2014)
criteria provided, single submitter
91.
GRCh37:
Chr1:21894785
GRCh38:
Chr1:21568292
ALPLnot specifiedBenigncriteria provided, single submitter
92.
GRCh37:
Chr1:21896767
GRCh38:
Chr1:21570274
ALPLnot specifiedBenigncriteria provided, single submitter
93.
GRCh37:
Chr1:21896788
GRCh38:
Chr1:21570295
ALPLLow alkaline phosphataseUncertain significanceno assertion criteria provided
94.
GRCh37:
Chr1:21896814
GRCh38:
Chr1:21570321
ALPLInfantile hypophosphatasiaLikely pathogenic
(Oct 21, 2014)
criteria provided, single submitter
95.
GRCh37:
Chr1:21896815
GRCh38:
Chr1:21570322
ALPLnot providedUncertain significance
(Sep 16, 2018)
criteria provided, single submitter
96.
GRCh37:
Chr1:21896819
GRCh38:
Chr1:21570326
ALPLChildhood hypophosphatasia, Infantile hypophosphatasiaPathogenic
(Sep 1, 2008)
no assertion criteria provided
97.
GRCh37:
Chr1:21896820
GRCh38:
Chr1:21570327
ALPLInfantile hypophosphatasia, HypophosphatasiaLikely pathogenic
(May 9, 2018)
criteria provided, multiple submitters, no conflicts
98.
GRCh37:
Chr1:21896823
GRCh38:
Chr1:21570330
ALPLHypophosphatasia, not specified, not provided
Conflicting interpretations of pathogenicity
(Sep 30, 2017)
criteria provided, conflicting interpretations
99.
GRCh37:
Chr1:21896846
GRCh38:
Chr1:21570353
ALPLInfantile hypophosphatasiaLikely pathogenic
(Feb 18, 2016)
criteria provided, single submitter
100.
GRCh37:
Chr1:21896863
GRCh38:
Chr1:21570370
ALPLnot providedBenign
(Dec 21, 2017)
criteria provided, single submitter
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