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Items: 1 to 100 of 154

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr17:10795576-17867596
GRCh38:
Chr17:10892259-17964282
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
2.
GRCh38:
Chr17:11915997-17892664
not specifiedPathogenic
(Sep 28, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr17:14970116-17375771
GRCh38:
Chr17:15066799-17472457
See casesPathogenic
(Sep 21, 2012)
no assertion criteria provided
4.
GRCh37:
Chr17:15113717-18184130
GRCh38:
Chr17:15210400-18280816
See casesPathogenic
(Dec 22, 2010)
no assertion criteria provided
5.
GRCh37:
Chr17:15138002-20524013
GRCh38:
Chr17:15234685-20620700
ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LLGL1, LOC102724624, LOC105371566, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899, LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR4731, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
6.
GRCh37:
Chr17:15162481-20828612
GRCh38:
Chr17:15259164-20925299
LOC112529900, LOC113939958, LOC116276455, LOC121587576, LOC121587577, LOC121587578, LOC121587579, LOC121587580, LOC121852924, LOC121852925, LOC121852926, LOC125177427, LOC125177428, LOC125177429, LOC125177430, LOC125177431, LOC125177432, LOC125177433, LOC125177434, LOC125177435, LOC125177436, LOC125177437, LOC125177438, LOC125177439, LOC126862513, LOC126862514, LOC126862515, LOC126862516, LOC126862517, LOC284191, LOC388436, LRRC75A, MAPK7, MED9, MFAP4, MIEF2, MIR1180, MIR1288, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NCOR1, NT5M, PEMT, PIGL, PLD6, PMP22, PRPSAP2, RAI1, RAI1-AS1, RASD1, RNF112, SHMT1, SLC47A1, SLC47A2, SLC5A10, SMCR2, SMCR5, SMCR8, SNHG29, SNORA59B, SNORD163, SNORD3A, SNORD3B-1, SNORD3B-2, SNORD3C, SNORD3D, SNORD49A, SNORD49B, SNORD65, SPECC1, SREBF1, TBC1D26, TBC1D26-AS1, TBC1D28, TEKT3, TNFRSF13B, TOM1L2, TOP3A, TRG-CCC3-1, TRIM16, TRIM16L, TRPV2, TRW-CCA2-1, TTC19, TVP23B, TVP23C, TVP23C-CDRT4, UBB, ULK2, ZNF286A, ZNF286A-TBC1D26, ZNF287, ZNF624, ZSWIM7, ADORA2B, AKAP10, ALDH3A1, ALDH3A2, ALKBH5, ATPAF2, B9D1, CCDC144A, CCDC144NL-AS1, CDRT15L2, CDRT3, CDRT4, CENPV, COPS3, DRC3, DRG2, EPN2, EPN2-AS1, EPN2-IT1, EVPLL, FAM106A, FAM106B, FAM106C, FAM83G, FBXW10, FBXW10B, FLCN, FLII, FOXO3B, GID4, GRAP, GRAPL, GRAPL-AS1, LGALS9B, LGALS9C, LINC02076, LINC02087, LINC02088, LINC02090, LLGL1, LOC102724624, LOC105371566, LOC105943587, LOC106020709, LOC106020710, LOC106020711, LOC106020712, LOC108745275, LOC108745276, LOC110121461, LOC111556156, LOC112529896, LOC112529897, LOC112529898, LOC112529899
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
7.
GRCh37:
Chr17:15455676-18917513
GRCh38:
Chr17:15552362-19014200
See casesPathogenic
(Nov 5, 2013)
no assertion criteria provided
8.
GRCh37:
Chr17:15633207-20413564
GRCh38:
Chr17:15729893-20510251
See casesPathogenic
(Jun 25, 2013)
no assertion criteria provided
9.
GRCh37:
Chr17:15680229-18675066
GRCh38:
Chr17:15776915-18771753
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
10.
GRCh37:
Chr17:15688146-16763457
GRCh38:
Chr17:15784832-16860143
See casesUncertain significance
(May 7, 2013)
no assertion criteria provided
11.
GRCh37:
Chr17:15754173-20552548
GRCh38:
Chr17:15850859-20649235
See casesPathogenic
(Oct 22, 2013)
no assertion criteria provided
12.
GRCh37:
Chr17:15786351-20561331
GRCh38:
Chr17:15883037-20658018
See casesPathogenic
(Dec 10, 2012)
no assertion criteria provided
13.
GRCh37:
Chr17:15786351-20524013
GRCh38:
Chr17:15883037-20620700
See casesPathogenic
(Jun 20, 2011)
no assertion criteria provided
14.
GRCh37:
Chr17:15801346-20524013
GRCh38:
Chr17:15898032-20620700
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
15.
GRCh37:
Chr17:15855385-18266133
GRCh38:
Chr17:15952071-18362819
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
16.
GRCh37:
Chr17:16021199-18266133
GRCh38:
Chr17:16117885-18362819
See casesPathogenic
(Aug 12, 2011)
criteria provided, single submitter
17.
GRCh37:
Chr17:16119887-16120690
GRCh38:
Chr17:16216573-16217376
PIGLnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr17:16120544
GRCh38:
Chr17:16217230
PIGLE2Knot provided, CHIME syndromeUncertain significance
(Aug 31, 2022)
criteria provided, multiple submitters, no conflicts
19.
GRCh37:
Chr17:16120546
GRCh38:
Chr17:16217232
PIGLE2Dnot providedUncertain significance
(Oct 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr17:16120557
GRCh38:
Chr17:16217243
PIGLL6Rnot providedUncertain significance
(Aug 20, 2021)
criteria provided, single submitter
21.
GRCh37:
Chr17:16120561
GRCh38:
Chr17:16217247
PIGLnot providedLikely benign
(May 16, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr17:16120564
GRCh38:
Chr17:16217250
PIGLC8Wnot providedUncertain significance
(Apr 29, 2020)
criteria provided, single submitter
23.
GRCh37:
Chr17:16120565
GRCh38:
Chr17:16217251
PIGLV9Lnot providedUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr17:16120570
GRCh38:
Chr17:16217256
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
25.
GRCh37:
Chr17:16120575
GRCh38:
Chr17:16217261
PIGLA12EInborn genetic diseasesUncertain significance
(Sep 16, 2021)
criteria provided, single submitter
26.
GRCh37:
Chr17:16120600
GRCh38:
Chr17:16217286
PIGLW20*not providedPathogenic
(Mar 24, 2020)
criteria provided, single submitter
27.
GRCh37:
Chr17:16120629
GRCh38:
Chr17:16217315
PIGLS30Nnot provided, Inborn genetic diseasesConflicting interpretations of pathogenicity
(Aug 19, 2022)
criteria provided, conflicting interpretations
28.
GRCh37:
Chr17:16120670
GRCh38:
Chr17:16217356
PIGLCHIME syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
29.
GRCh37:
Chr17:16120672
GRCh38:
Chr17:16217358
PIGLnot providedLikely benign
(Oct 7, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr17:16120684
GRCh38:
Chr17:16217370
PIGLnot providedLikely benign
(Jun 10, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr17:16120693-16120700
GRCh38:
Chr17:16217379-16217386
PIGLD52fsCHIME syndromeLikely pathogenic
(Mar 22, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr17:16120694
GRCh38:
Chr17:16217380
PIGLD52Nnot providedLikely pathogenic
(Jun 17, 2019)
no assertion criteria provided
33.
GRCh37:
Chr17:16120701
GRCh38:
Chr17:16217387
PIGLA54Vnot providedUncertain significance
(Mar 28, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr17:16120703
GRCh38:
Chr17:16217389
PIGLM55VInborn genetic diseases, not providedUncertain significance
(Sep 16, 2022)
criteria provided, multiple submitters, no conflicts
35.
GRCh37:
Chr17:16120709
GRCh38:
Chr17:16217395
PIGLF57LCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
36.
GRCh37:
Chr17:16120716
GRCh38:
Chr17:16217402
PIGLP59HWide intermamillary distance, Low-set ears, Scrotal hypoplasia,
Camptodactyly of finger, Hypertelorism, Postaxial hand polydactyly,
Premature birth, Bilateral cleft lip and palate, CHIME syndrome
Uncertain significance
(Jan 1, 2016)
criteria provided, single submitter
37.
GRCh37:
Chr17:16120758
GRCh38:
Chr17:16217444
PIGLL73Pnot providedUncertain significance
(Jul 25, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr17:16137245
GRCh38:
Chr17:16233931
PIGLnot providedBenign
(May 24, 2021)
criteria provided, single submitter
39.
GRCh37:
Chr17:16137303-16137304
GRCh38:
Chr17:16233989-16233990
PIGLE86fsCHIME syndrome, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) SyndromeUncertain significance
(Apr 27, 2017)
criteria provided, single submitter
40.
GRCh37:
Chr17:16137311
GRCh38:
Chr17:16233997
PIGLR88GCHIME syndromeUncertain significance
(May 22, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr17:16137311
GRCh38:
Chr17:16233997
PIGLR88Cnot providedLikely pathogenic
(Mar 24, 2020)
criteria provided, single submitter
42.
GRCh37:
Chr17:16137312
GRCh38:
Chr17:16233998
PIGLR88Hnot provided, CHIME syndromeUncertain significance
(Aug 24, 2021)
criteria provided, multiple submitters, no conflicts
43.
GRCh37:
Chr17:16137320
GRCh38:
Chr17:16234006
PIGLE91fsnot providedPathogenic
(Oct 5, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr17:16137323
GRCh38:
Chr17:16234009
PIGLL92fsCHIME syndromePathogenic
(Apr 6, 2012)
no assertion criteria provided
45.
GRCh37:
Chr17:16137345
GRCh38:
Chr17:16234031
PIGLL99WCHIME syndromeUncertain significance
(Sep 5, 2018)
criteria provided, single submitter
46.
GRCh37:
Chr17:16137382
GRCh38:
Chr17:16234068
PIGLN111Knot providedLikely benign
(Jul 26, 2017)
criteria provided, single submitter
47.
GRCh37:
Chr17:16137382
GRCh38:
Chr17:16234068
PIGLnot providedLikely benign
(Aug 24, 2018)
criteria provided, single submitter
48.
GRCh37:
Chr17:16137393
GRCh38:
Chr17:16234079
PIGLnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr17:16203188
GRCh38:
Chr17:16299874
PIGLnot providedLikely benign
(Apr 18, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr17:16203199
GRCh38:
Chr17:16299885
PIGLnot providedUncertain significance
(May 11, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr17:16203200
GRCh38:
Chr17:16299886
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Apr 28, 2022)
criteria provided, conflicting interpretations
52.
GRCh37:
Chr17:16203203
GRCh38:
Chr17:16299889
PIGLD113Ynot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Sep 21, 2022)
criteria provided, conflicting interpretations
53.
GRCh37:
Chr17:16203212
GRCh38:
Chr17:16299898
PIGLD116Nnot providedUncertain significance
(Sep 1, 2021)
criteria provided, single submitter
54.
GRCh37:
Chr17:16203220
GRCh38:
Chr17:16299906
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Jul 6, 2022)
criteria provided, conflicting interpretations
55.
GRCh37:
Chr17:16203250
GRCh38:
Chr17:16299936
PIGLnot providedLikely benign
(Jul 30, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr17:16203251
GRCh38:
Chr17:16299937
PIGLR129Gnot providedUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
57.
GRCh37:
Chr17:16203264
GRCh38:
Chr17:16299950
PIGLQ133RCHIME syndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
58.
GRCh37:
Chr17:16203286
GRCh38:
Chr17:16299972
PIGLCHIME syndrome, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) SyndromeUncertain significance
(Jan 12, 2018)
criteria provided, single submitter
59.
GRCh37:
Chr17:16203290
GRCh38:
Chr17:16299976
PIGLL142MColoboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not specified, CHIME syndrome,
not provided
Conflicting interpretations of pathogenicity
(Oct 28, 2022)
criteria provided, conflicting interpretations
60.
GRCh37:
Chr17:16203300
GRCh38:
Chr17:16299986
PIGLnot providedLikely benign
(Mar 2, 2021)
criteria provided, single submitter
61.
GRCh37:
Chr17:16203300
GRCh38:
Chr17:16299986
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
62.
GRCh37:
Chr17:16203302
GRCh38:
Chr17:16299988
PIGLnot providedLikely benign
(Dec 23, 2020)
criteria provided, single submitter
63.
GRCh37:
Chr17:16203306
GRCh38:
Chr17:16299992
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
64.
GRCh37:
Chr17:16216605
GRCh38:
Chr17:16313291
PIGLnot providedBenign
(Jul 27, 2018)
criteria provided, single submitter
65.
GRCh37:
Chr17:16216860
GRCh38:
Chr17:16313546
PIGLCHIME syndromePathogenic
(Apr 6, 2012)
no assertion criteria provided
66.
GRCh37:
Chr17:16216872
GRCh38:
Chr17:16313558
PIGLF146LCHIME syndrome, Hyperphosphatasia with intellectual disability syndrome 1Likely pathogenic
(Sep 29, 2021)
no assertion criteria provided
67.
GRCh37:
Chr17:16216873
GRCh38:
Chr17:16313559
PIGLD147NInborn genetic diseases, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, not provided,
CHIME syndrome
Uncertain significance
(Nov 1, 2022)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr17:16216880
GRCh38:
Chr17:16313566
PIGLG149ACHIME syndrome, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) SyndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
69.
GRCh37:
Chr17:16216907
GRCh38:
Chr17:16313593
PIGLI158Tnot providedUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr17:16216914
GRCh38:
Chr17:16313600
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
71.
GRCh37:
Chr17:16216927
GRCh38:
Chr17:16313613
PIGLCHIME syndrome, not providedUncertain significance
(Aug 11, 2022)
criteria provided, multiple submitters, no conflicts
72.
GRCh37:
Chr17:16216929
GRCh38:
Chr17:16313615
PIGLCHIME syndromeLikely pathogenic
(Jan 22, 2019)
criteria provided, single submitter
73.
GRCh37:
Chr17:16216941
GRCh38:
Chr17:16313627
PIGLnot providedLikely benign
(May 9, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr17:16216988
GRCh38:
Chr17:16313674
PIGLnot providedBenign
(Jun 17, 2019)
criteria provided, single submitter
75.
GRCh37:
Chr17:16219792
GRCh38:
Chr17:16316478
PIGLnot providedBenign
(Jul 27, 2018)
criteria provided, single submitter
76.
GRCh37:
Chr17:16219930
GRCh38:
Chr17:16316616
PIGLnot providedLikely benign
(Nov 20, 2021)
criteria provided, single submitter
77.
GRCh37:
Chr17:16220000
GRCh38:
Chr17:16316686
PIGLL167Pnot provided, CHIME syndrome, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome,
Inborn genetic diseases, Bilateral cleft lip and palate, Low-set ears,
Hypertelorism, Camptodactyly of finger, Postaxial hand polydactyly,
Wide intermamillary distance, Scrotal hypoplasiaPremature birth,
...see more
Conflicting interpretations of pathogenicity
(Sep 29, 2022)
criteria provided, conflicting interpretations
78.
GRCh37:
Chr17:16220036
GRCh38:
Chr17:16316722
PIGLColoboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome, CHIME syndrome, not provided
Conflicting interpretations of pathogenicity
(Oct 4, 2022)
criteria provided, conflicting interpretations
79.
GRCh37:
Chr17:16221072
GRCh38:
Chr17:16317758
PIGLnot providedLikely benign
(Oct 25, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr17:16221080
GRCh38:
Chr17:16317766
PIGLnot providedLikely benign
(Jul 10, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr17:16221084
GRCh38:
Chr17:16317770
PIGLnot providedLikely benign
(May 20, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr17:16221096
GRCh38:
Chr17:16317782
PIGLCHIME syndromeUncertain significance
(Mar 4, 2013)
criteria provided, single submitter
83.
GRCh37:
Chr17:16221097
GRCh38:
Chr17:16317783
PIGLV179LCHIME syndromeUncertain significance
(Jan 13, 2018)
criteria provided, single submitter
84.
GRCh37:
Chr17:16221097
GRCh38:
Chr17:16317783
PIGLV179MCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
85.
GRCh37:
Chr17:16221102
GRCh38:
Chr17:16317788
PIGLCHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
86.
GRCh37:
Chr17:16221104
GRCh38:
Chr17:16317790
PIGLT181Mnot provided, CHIME syndrome, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies (CHIME) Syndrome
Uncertain significance
(Jun 27, 2022)
criteria provided, multiple submitters, no conflicts
87.
GRCh37:
Chr17:16221105
GRCh38:
Chr17:16317791
PIGLA171Tnot providedLikely benign
(Jun 14, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr17:16221129
GRCh38:
Chr17:16317815
PIGLQ179Knot providedLikely benign
(Jul 5, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr17:16221157
GRCh38:
Chr17:16317843
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Sep 6, 2022)
criteria provided, conflicting interpretations
90.
GRCh37:
Chr17:16221158
GRCh38:
Chr17:16317844
PIGLL199SInborn genetic diseasesUncertain significance
(May 10, 2021)
criteria provided, single submitter
91.
GRCh37:
Chr17:16221167
GRCh38:
Chr17:16317853
PIGLL202Pnot provided, Inborn genetic diseasesUncertain significance
(Nov 19, 2021)
criteria provided, multiple submitters, no conflicts
92.
GRCh37:
Chr17:16221169
GRCh38:
Chr17:16317855
PIGLS192*, H203Dnot providedUncertain significance
(Aug 31, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr17:16221173
GRCh38:
Chr17:16317859
PIGLT204K, Y193*Inborn genetic diseasesUncertain significance
(Apr 7, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr17:16221173
GRCh38:
Chr17:16317859
PIGLT204Mnot providedUncertain significance
(Jun 11, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr17:16221189
GRCh38:
Chr17:16317875
PIGLnot provided, CHIME syndromeConflicting interpretations of pathogenicity
(Mar 21, 2022)
criteria provided, conflicting interpretations
96.
GRCh37:
Chr17:16221190
GRCh38:
Chr17:16317876
PIGLV210M, R199Hnot providedUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr17:16221194
GRCh38:
Chr17:16317880
PIGLL211Pnot providedUncertain significance
(Aug 15, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr17:16221198
GRCh38:
Chr17:16317884
PIGLQ202*not providedLikely benign
(Apr 8, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr17:16221214
GRCh38:
Chr17:16317900
PIGLQ218ECHIME syndromeUncertain significance
(Feb 8, 2013)
criteria provided, single submitter
100.
GRCh37:
Chr17:16221214
GRCh38:
Chr17:16317900
PIGLQ218*CHIME syndromePathogenic
(Apr 6, 2012)
no assertion criteria provided
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