U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 1 to 100 of 421

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr2:121732505
GRCh38:
Chr2:120974929
GLI2V397fsHoloprosencephaly 9Likely pathogenic
(Sep 5, 2023)
criteria provided, single submitter
2.
GRCh37:
Chr2:121745994
GRCh38:
Chr2:120988418
GLI2S694fs, S819fs, S836fsHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromePathogenic
(Nov 9, 2022)
criteria provided, single submitter
3.
GRCh37:
Chr2:121746665-121746666
GRCh38:
Chr2:120989089-120989090
GLI2L1043fs, L1060fs, L918fsHoloprosencephaly 9Likely pathogenic
(Aug 10, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr2:121746284
GRCh38:
Chr2:120988708
GLI2P790S, P915S, P932SHoloprosencephaly 9Uncertain significance
(Dec 22, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr2:121736034
GRCh38:
Chr2:120978458
GLI2G323R, G448R, G465RHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Oct 17, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr2:121746834
GRCh38:
Chr2:120989258
GLI2S1098F, S1115F, S973FPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Feb 11, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr2:121745829
GRCh38:
Chr2:120988253
GLI2A638V, A763V, A780VHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Mar 10, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr2:121728108
GRCh38:
Chr2:120970532
GLI2M204V, M329VHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Inborn genetic diseases
Uncertain significance
(Oct 9, 2022)
criteria provided, multiple submitters, no conflicts
9.
GRCh37:
Chr2:121746288
GRCh38:
Chr2:120988712
GLI2R916H, R791H, R933HPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr2:121555036
GRCh38:
Chr2:120797460
GLI2A47VPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Jul 28, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr2:121747560
GRCh38:
Chr2:120989984
GLI2G1340D, G1215D, G1357DHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Apr 24, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr2:121747795
GRCh38:
Chr2:120990219
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Oct 10, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr2:121747492
GRCh38:
Chr2:120989916
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(May 21, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr2:121748045
GRCh38:
Chr2:120990469
GLI2G1377S, G1519S, G1502SHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 12, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr2:121747730
GRCh38:
Chr2:120990154
GLI2E1272Q, E1414Q, E1397QHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Oct 7, 2022)
criteria provided, single submitter
16.
GRCh37:
Chr2:121742322
GRCh38:
Chr2:120984746
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr2:121736158
GRCh38:
Chr2:120978582
GLI2T364M, T506M, T489Mnot provided, Inborn genetic diseases, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome,
Holoprosencephaly 9
Uncertain significance
(May 14, 2022)
criteria provided, multiple submitters, no conflicts
18.
GRCh37:
Chr2:121740296
GRCh38:
Chr2:120982720
GLI2E366A, E491A, E508AHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr2:121746736
GRCh38:
Chr2:120989160
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Apr 18, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr2:121746292
GRCh38:
Chr2:120988716
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Apr 25, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr2:121746007
GRCh38:
Chr2:120988431
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Jul 26, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr2:121736139
GRCh38:
Chr2:120978563
GLI2E358K, E500K, E483KHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, not provided
Uncertain significance
(Jun 29, 2022)
criteria provided, multiple submitters, no conflicts
23.
GRCh37:
Chr2:121747580
GRCh38:
Chr2:120990004
GLI2A1347T, A1364T, A1222TPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Feb 9, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr2:121748185
GRCh38:
Chr2:120990609
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Jan 1, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr2:121746891
GRCh38:
Chr2:120989315
GLI2P1117L, P1134L, P992LPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Sep 25, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr2:121746523
GRCh38:
Chr2:120988947
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Jan 28, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr2:121747007
GRCh38:
Chr2:120989431
GLI2V1156L, V1173L, V1031LHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jul 8, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr2:121746252-121746253
GRCh38:
Chr2:120988676-120988677
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(May 28, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr2:121747564
GRCh38:
Chr2:120989988
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Jun 3, 2022)
criteria provided, single submitter
30.
GRCh37:
Chr2:121732630
GRCh38:
Chr2:120975054
GLI2N438S, N421S, N296SHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, not provided
Uncertain significance
(Feb 22, 2022)
criteria provided, multiple submitters, no conflicts
31.
GRCh37:
Chr2:121743882
GRCh38:
Chr2:120986306
GLI2S645L, S662L, S520LPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Oct 29, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr2:121744110
GRCh38:
Chr2:120986534
GLI2K596R, K738R, K721RPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Aug 23, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr2:121726279
GRCh38:
Chr2:120968703
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Apr 24, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr2:121726339
GRCh38:
Chr2:120968763
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Sep 3, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr2:121554904-121554905
GRCh38:
Chr2:120797328-120797329
GLI2S4fsHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromePathogenic
(Apr 8, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr2:121740361
GRCh38:
Chr2:120982785
GLI2E513Q, E388Q, E530QHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 16, 2022)
criteria provided, single submitter
37.
GRCh37:
Chr2:121747093
GRCh38:
Chr2:120989517
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeBenign
(Sep 7, 2022)
criteria provided, single submitter
38.
GRCh37:
Chr2:121742311
GRCh38:
Chr2:120984735
GLI2S508R, S633R, S650RHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr2:121742033
GRCh38:
Chr2:120984457
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Aug 3, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr2:121746771
GRCh38:
Chr2:120989195
GLI2S1094F, S952F, S1077FPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Feb 28, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr2:121746424
GRCh38:
Chr2:120988848
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Jul 2, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr2:121740280
GRCh38:
Chr2:120982704
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Mar 20, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr2:121728094
GRCh38:
Chr2:120970518
GLI2L324P, L199PHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(May 4, 2022)
criteria provided, single submitter
44.
GRCh37:
Chr2:121747118
GRCh38:
Chr2:120989542
GLI2G1210R, G1068R, G1193RHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 24, 2022)
criteria provided, single submitter
45.
GRCh37:
Chr2:121728202
GRCh38:
Chr2:120970626
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Aug 16, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr2:121742313
GRCh38:
Chr2:120984737
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Aug 16, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr2:121748050
GRCh38:
Chr2:120990474
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr2:121747382
GRCh38:
Chr2:120989806
GLI2R1281C, R1156C, R1298CHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Apr 29, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr2:121747165
GRCh38:
Chr2:120989589
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Sep 19, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr2:121728091
GRCh38:
Chr2:120970515
GLI2F198S, F323SHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr2:121746121
GRCh38:
Chr2:120988545
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr2:121745832
GRCh38:
Chr2:120988256
GLI2G781E, G639E, G764EPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Apr 4, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr2:121746905
GRCh38:
Chr2:120989329
GLI2K1139E, K1122E, K997EPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Jun 30, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr2:121744037
GRCh38:
Chr2:120986461
GLI2A572S, A714S, A697SPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Mar 4, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr2:121747420
GRCh38:
Chr2:120989844
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Sep 8, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr2:121745784
GRCh38:
Chr2:120988208
GLI2G623A, G765A, G748APostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Feb 4, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr2:121747945
GRCh38:
Chr2:120990369
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Dec 24, 2021)
criteria provided, single submitter
58.
GRCh37:
Chr2:121746330
GRCh38:
Chr2:120988754
GLI2G947D, G805D, G930DHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr2:121713022
GRCh38:
Chr2:120955446
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Jul 2, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr2:121742316
GRCh38:
Chr2:120984740
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Dec 20, 2020)
criteria provided, single submitter
61.
GRCh37:
Chr2:121740423
GRCh38:
Chr2:120982847
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Jul 2, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr2:121708835
GRCh38:
Chr2:120951259
GLI2G91SPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Jun 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr2:121747380
GRCh38:
Chr2:120989804
GLI2N1155S, N1280S, N1297SHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jul 21, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr2:121744012
GRCh38:
Chr2:120986436
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Sep 7, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr2:121747237
GRCh38:
Chr2:120989661
GLI2Q1232H, Q1249H, Q1107HPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Oct 24, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr2:121744125
GRCh38:
Chr2:120986549
GLI2S601F, S726F, S743FPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Sep 10, 2022)
criteria provided, single submitter
67.
GRCh37:
Chr2:121736022
GRCh38:
Chr2:120978446
GLI2E461K, E444K, E319KPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Feb 3, 2022)
criteria provided, single submitter
68.
GRCh37:
Chr2:121736085
GRCh38:
Chr2:120978509
GLI2K482*, K465*, K340*Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromePathogenic
(Dec 6, 2021)
criteria provided, single submitter
69.
GRCh37:
Chr2:121747725
GRCh38:
Chr2:120990149
GLI2T1270I, T1395I, T1412IHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jul 11, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr2:121729505
GRCh38:
Chr2:120971929
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Sep 17, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr2:121743976
GRCh38:
Chr2:120986400
GLI2D676E, D551E, D693EPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Aug 19, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr2:121747852
GRCh38:
Chr2:120990276
GLI2Y1312*, Y1437*, Y1454*Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Pathogenic
(Jul 21, 2022)
criteria provided, single submitter
73.
GRCh37:
Chr2:121748093
GRCh38:
Chr2:120990517
GLI2H1393Y, H1518Y, H1535YHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(May 15, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr2:121736033
GRCh38:
Chr2:120978457
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Sep 27, 2022)
criteria provided, single submitter
75.
GRCh37:
Chr2:121747242
GRCh38:
Chr2:120989666
GLI2H1109P, H1251P, H1234PHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Sep 29, 2022)
criteria provided, single submitter
76.
GRCh37:
Chr2:121746964
GRCh38:
Chr2:120989388
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Aug 5, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr2:121746796
GRCh38:
Chr2:120989220
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Jun 30, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr2:121747000
GRCh38:
Chr2:120989424
GLI2N1170K, N1028K, N1153KHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Dec 8, 2021)
criteria provided, single submitter
79.
GRCh37:
Chr2:121744190
GRCh38:
Chr2:120986614
GLI2G623S, G748S, G765SHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jan 5, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr2:121743880
GRCh38:
Chr2:120986304
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Mar 29, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr2:121728031
GRCh38:
Chr2:120970455
GLI2Q178P, Q303PHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jul 26, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr2:121726295
GRCh38:
Chr2:120968719
GLI2R217C, R92CHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 22, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr2:121736168
GRCh38:
Chr2:120978592
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Aug 16, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr2:121747009
GRCh38:
Chr2:120989433
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(May 6, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr2:121748017
GRCh38:
Chr2:120990441
GLI2Q1367H, Q1492H, Q1509HHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 23, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr2:121747185
GRCh38:
Chr2:120989609
GLI2S1215N, S1090N, S1232NHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 5, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr2:121554979
GRCh38:
Chr2:120797403
GLI2P28QHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr2:121748101
GRCh38:
Chr2:120990525
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Feb 23, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr2:121748218
GRCh38:
Chr2:120990642
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Benign
(Oct 7, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr2:121740413
GRCh38:
Chr2:120982837
GLI2A405V, A530V, A547VHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Oct 8, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr2:121554962
GRCh38:
Chr2:120797386
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Benign
(Sep 16, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr2:121726508
GRCh38:
Chr2:120968932
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Mar 29, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr2:121708849
GRCh38:
Chr2:120951273
GLI2I95MHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Jun 9, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr2:121729594
GRCh38:
Chr2:120972018
GLI2Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Likely benign
(Sep 17, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr2:121732486
GRCh38:
Chr2:120974910
GLI2Holoprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeLikely benign
(Aug 23, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr2:121746561
GRCh38:
Chr2:120988985
GLI2Y1007C, Y1024C, Y882CHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Oct 16, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr2:121746338
GRCh38:
Chr2:120988762
GLI2H808D, H933D, H950DHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Sep 17, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr2:121747975
GRCh38:
Chr2:120990399
GLI2Q1353H, Q1478H, Q1495HHoloprosencephaly 9, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndromeUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr2:121712871
GRCh38:
Chr2:120955295
GLI2G170R, G45RPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Jul 23, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr2:121747124
GRCh38:
Chr2:120989548
GLI2P1070S, P1195S, P1212SPostaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9Uncertain significance
(Aug 2, 2022)
criteria provided, single submitter
Format
Items per page
Sort by
Choose Destination