| - GRCh37:
- Chr8:94805484
- Chr8:94811986
- GRCh38:
- Chr8:93793256
- Chr8:93799758
| TMEM67, TMEM67 | G545E, G464E | Joubert syndrome 6 | Pathogenic
(Jan 1, 2007) | no assertion criteria provided |
| - GRCh37:
- Chr12:88520219
- Chr12:88520223
- GRCh38:
- Chr12:88126442
- Chr12:88126446
| CEP290, CEP290 | | Senior-Loken syndrome 6, Joubert syndrome 5, Meckel syndrome, type 4,
Leber congenital amaurosis 10 | Uncertain significance
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88519072
- GRCh38:
- Chr12:88125295
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Likely benign
(Mar 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135759655-135759656
- GRCh38:
- Chr6:135438517-135438518
| AHI1 | | Familial aplasia of the vermis | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53726183
- GRCh38:
- Chr16:53692271
| RPGRIP1L | M108I | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53682870
- GRCh38:
- Chr16:53648958
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15538601
- GRCh38:
- Chr4:15536978
| CC2D2A | I507V, I556V | Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135788702
- GRCh38:
- Chr6:135467564
| AHI1 | | Familial aplasia of the vermis | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:56296553
- GRCh38:
- Chr17:58219192
| MKS1, LOC130061271 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(Jun 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53730177
- GRCh38:
- Chr16:53696265
| RPGRIP1L | R39L | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94808184-94818223
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Jun 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94767143-94828680
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94770691-94777894
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Oct 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94821048-94821409
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Jun 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94767143-94935901
| PDP1, TMEM67 | | Meckel-Gruber syndrome, Familial aplasia of the vermis | Pathogenic
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88465051-88508979
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Likely pathogenic
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88465051-88465723
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Pathogenic
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88452605-88494960
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Pathogenic
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88510800-88510932
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Pathogenic
(Jul 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:124189059-124192260
| TCTN2 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135749747-135784464
| AHI1 | | Familial aplasia of the vermis | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135644280-135813375
| AHI1 | | Familial aplasia of the vermis | Uncertain significance
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135679250-135754414
| AHI1 | | Familial aplasia of the vermis | Pathogenic
(Sep 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:138392557-141016451
| ABCA2, AGPAT2, AJM1, ANAPC2, ARRDC1, C8G, C9orf163, CACNA1B, CAMSAP1, CARD9, CCDC183, CIMIP2A, CLIC3, CYSRT1, DIPK1B, DNLZ, DPH7, DPP7, EDF1, EGFL7, EHMT1, ENTPD2, ENTPD8, ENTR1, EXD3, FBXW5, FUT7, GLT6D1, GPSM1, GRIN1, INPP5E, KCNT1, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC02908, LOC651337, LRRC26, MAMDC4, MAN1B1, MIR126, MRPL41, MRPS2, NACC2, NDOR1, NELFB, NOTCH1, NOXA1, NPDC1, NRARP, NSMF, OBP2A, PAEP, PAXX, PHPT1, PMPCA, PNPLA7, PTGDS, QSOX2, RABL6, RNF208, RNF224, SAPCD2, SEC16A, SLC34A3, SNAPC4, SNHG7, SOHLH1, SSNA1, STPG3, TMEM141, TMEM203, TMEM210, TMEM250, TOR4A, TPRN, TRAF2, TUBB4B, UAP1L1, UBAC1, ZMYND19 | | Familial aplasia of the vermis, Developmental and epileptic encephalopathy, 14, Autosomal dominant nocturnal frontal lobe epilepsy 5,
Adams-Oliver syndrome 5 | Conflicting interpretations of pathogenicity
(Jul 6, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr17:19263613-19265882
| B9D1 | | Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(Mar 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53656111-53656288
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53720345-53721877
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Feb 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53721798-53724290
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely pathogenic
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53635988-54967785
| FTO, IRX3, IRX5, RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53706762-53709054
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(May 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53705412-53721887
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Sep 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53691355-53692800
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(May 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53692306-53698941
| RPGRIP1L | | Meckel-Gruber syndrome, Familial aplasia of the vermis | Pathogenic
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53705412-53705505
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Apr 3, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53721765-53721887
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Apr 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53644869-53644973
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53734541-53734645
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Jan 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53635988-55539614
| FTO, IRX3, IRX5, IRX6, MMP2, RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Aug 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:16842861-19578885
| ALDH3A2, ALKBH5, ATPAF2, B9D1, COPS3, DRC3, DRG2, EPN2, EVPLL, FAM83G, FBXW10, FLCN, FLII, GID4, GRAP, GRAPL, LGALS9C, LLGL1, MAPK7, MED9, MFAP4, MIEF2, MIR33B, MPRIP, MYO15A, NT5M, PEMT, PLD6, PRPSAP2, RAI1, RASD1, RNF112, SHMT1, SLC47A1, SLC5A10, SMCR8, SNORD3A, SREBF1, TBC1D28, TNFRSF13B, TOM1L2, TOP3A, TRIM16L, TVP23B | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Immunodeficiency, common variable, 2
| Uncertain significance
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13734103-13787227
| OFD1, TRAPPC2 | | Orofaciodigital syndrome I, Familial aplasia of the vermis | Uncertain significance
(Oct 7, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61165722-61197674
| CPSF7, SDHAF2, TMEM216 | | Familial aplasia of the vermis | Uncertain significance
(May 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr11:61160094-61161458
| TMEM216 | | Familial aplasia of the vermis | Pathogenic
(Apr 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111079754-111082915
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely pathogenic
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111064147-111074326
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Feb 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15480327-15482471
| CC2D2A | | Meckel-Gruber syndrome, Familial aplasia of the vermis | Pathogenic
(Aug 12, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15565496-15581640
| CC2D2A | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Sep 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15477557-16228080
| BST1, CC2D2A, CD38, FAM200B, FBXL5, FGFBP1, FGFBP2, PROM1, TAPT1 | | not provided | Uncertain significance
(Oct 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15568980-15569429
| CC2D2A | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Feb 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15529050-15530369
| CC2D2A | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:12885698-13787227
| ATXN3L, EGFL6, FAM9C, OFD1, RAB9A, TCEANC, TLR7, TLR8, TMSB4X, TRAPPC2 | | Familial aplasia of the vermis, Orofaciodigital syndrome I | Pathogenic
(Aug 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53686680
- GRCh38:
- Chr16:53652768
| RPGRIP1L | F640C | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Jan 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94811841
- GRCh38:
- Chr8:93799613
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88510942
- GRCh38:
- Chr12:88117165
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Likely benign
(Feb 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88508343
- GRCh38:
- Chr12:88114566
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Likely benign
(Feb 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139325529
- GRCh38:
- Chr9:136431077
| INPP5E | | Familial aplasia of the vermis | Likely benign
(Mar 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88478448
- GRCh38:
- Chr12:88084671
| CEP290 | Q1540R, Q600R | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Uncertain significance
(Feb 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13762624
- GRCh38:
- ChrX:13744505
| OFD1 | N168S, N28S | Familial aplasia of the vermis, Orofaciodigital syndrome I | Uncertain significance
(Jul 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15539780
- GRCh38:
- Chr4:15538157
| CC2D2A | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(Apr 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88510877
- GRCh38:
- Chr12:88117100
| CEP290 | G586E | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Uncertain significance
(Jun 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333342
- GRCh38:
- Chr9:136438890
| INPP5E | A177V | Familial aplasia of the vermis | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15517484
- GRCh38:
- Chr4:15515861
| CC2D2A | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(Jul 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88465139
- GRCh38:
- Chr12:88071362
| CEP290 | | Familial aplasia of the vermis, Nephronophthisis, Meckel-Gruber syndrome
| Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111064188
- GRCh38:
- Chr12:110626383
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(Jun 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135759610
- GRCh38:
- Chr6:135438472
| AHI1 | M647L | Familial aplasia of the vermis | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15512903
- GRCh38:
- Chr4:15511280
| CC2D2A | Y143N, Y192N | Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88465614-88465615
- GRCh38:
- Chr12:88071837-88071838
| CEP290 | E1933fs | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Pathogenic
(Jan 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53653088
- GRCh38:
- Chr16:53619176
| RPGRIP1L | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(May 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr17:56291222
- GRCh38:
- Chr17:58213861
| MKS1 | Y15C, Y218C | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(May 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88500672
- GRCh38:
- Chr12:88106895
| CEP290 | N866S | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis
| Uncertain significance
(Oct 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88465115
- GRCh38:
- Chr12:88071338
| CEP290 | L1049F, L1989F | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88512325
- GRCh38:
- Chr12:88118548
| CEP290 | R549L | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis
| Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139327750
- GRCh38:
- Chr9:136433298
| INPP5E | | Familial aplasia of the vermis | Likely benign
(Mar 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15538579
- GRCh38:
- Chr4:15536956
| CC2D2A | Y499*, Y548* | Meckel-Gruber syndrome, Familial aplasia of the vermis | Pathogenic
(Aug 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88449508-88449509
- GRCh38:
- Chr12:88055731-88055732
| CEP290 | | Nephronophthisis, Familial aplasia of the vermis, Meckel-Gruber syndrome
| Benign
(Mar 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94794701
- GRCh38:
- Chr8:93782473
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely benign
(Sep 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94807659
- GRCh38:
- Chr8:93795431
| TMEM67 | Y485C, Y566C | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Jun 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15560846
- GRCh38:
- Chr4:15559223
| CC2D2A | T914I, T963I | Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88512327
- GRCh38:
- Chr12:88118550
| CEP290 | E548D | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis
| Uncertain significance
(Apr 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94767155
- GRCh38:
- Chr8:93754927
| TMEM67 | G5C | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Jul 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88465712
- GRCh38:
- Chr12:88071935
| CEP290 | | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis
| Likely benign
(Mar 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333275
- GRCh38:
- Chr9:136438823
| INPP5E | | Familial aplasia of the vermis | Likely benign
(Aug 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15516446
- GRCh38:
- Chr4:15514823
| CC2D2A | | Meckel-Gruber syndrome, Familial aplasia of the vermis | Likely benign
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111078956
- GRCh38:
- Chr12:110641151
| TCTN1 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Likely pathogenic
(Apr 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139333160
- GRCh38:
- Chr9:136438708
| INPP5E | R238W | Familial aplasia of the vermis | Uncertain significance
(Mar 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88482978
- GRCh38:
- Chr12:88089201
| CEP290 | S1287F, S347F | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis
| Uncertain significance
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88442990
- GRCh38:
- Chr12:88049213
| CEP290, RLIG1 | E1531K, E2471K | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis
| Uncertain significance
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:111057752
- GRCh38:
- Chr12:110619947
| TCTN1 | P111L, P51L, P55L | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Jul 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr4:15517577
- GRCh38:
- Chr4:15515954
| CC2D2A | A274T, A323T | Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(Jul 21, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88523473
- GRCh38:
- Chr12:88129696
| CEP290 | Q284E | Familial aplasia of the vermis, Meckel-Gruber syndrome, Nephronophthisis
| Uncertain significance
(Jul 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135752447
- GRCh38:
- Chr6:135431309
| AHI1 | H758Y | Familial aplasia of the vermis | Uncertain significance
(Mar 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94817092
- GRCh38:
- Chr8:93804864
| TMEM67 | L728V, L809V | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94794619-94794620
- GRCh38:
- Chr8:93782391-93782392
| TMEM67 | | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(Jan 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:135752470-135752471
- GRCh38:
- Chr6:135431332-135431333
| AHI1 | | Familial aplasia of the vermis | Likely benign
(Sep 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr8:94811910
- GRCh38:
- Chr8:93799682
| TMEM67 | S641T, S722T | Familial aplasia of the vermis, Meckel-Gruber syndrome | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:139324800
- GRCh38:
- Chr9:136430348
| INPP5E | | Familial aplasia of the vermis | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88490687
- GRCh38:
- Chr12:88096910
| CEP290 | | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis
| Likely benign
(Aug 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- ChrX:13774737
- GRCh38:
- ChrX:13756618
| OFD1 | T281R, T381R, T421R | Familial aplasia of the vermis, Orofaciodigital syndrome I | Uncertain significance
(Oct 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88490650
- GRCh38:
- Chr12:88096873
| CEP290 | | Nephronophthisis, Meckel-Gruber syndrome, Familial aplasia of the vermis
| Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr16:53692344
- GRCh38:
- Chr16:53658432
| RPGRIP1L | E461D | Meckel-Gruber syndrome, Familial aplasia of the vermis | Uncertain significance
(Mar 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr12:88474128
- GRCh38:
- Chr12:88080351
| CEP290 | E1686G, E746G | Meckel-Gruber syndrome, Familial aplasia of the vermis, Nephronophthisis
| Uncertain significance
(Feb 19, 2022) | criteria provided, single submitter |