| - GRCh37:
- Chr9:34648139
- GRCh38:
- Chr9:34648142
| GALT | G179R, G70R | Galactose intolerance | Likely pathogenic
(Aug 14, 2023) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647864
- Chr9:34647920
- GRCh38:
- Chr9:34647867
- Chr9:34647923
| GALT, GALT | T29M, V157I, V48I | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647691
- GRCh38:
- Chr9:34647694
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Likely benign
(Oct 28, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34646691
- GRCh38:
- Chr9:34646694
| GALT | | Galactose intolerance | Uncertain significance
(Sep 4, 2020) | no assertion criteria provided |
| - GRCh37:
- Chr9:34647483
- GRCh38:
- Chr9:34647486
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Likely benign
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647952-34647954
- GRCh38:
- Chr9:34647955-34647957
| GALT | V168del, V59del | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Aug 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649557
- GRCh38:
- Chr9:34649560
| GALT | E243G, E352G | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specified | Uncertain significance
(Aug 27, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648833
- GRCh38:
- Chr9:34648836
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specified | Likely benign
(Aug 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649085
- GRCh38:
- Chr9:34649088
| GALT | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Oct 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34650400
- GRCh38:
- Chr9:34650403
| GALT | H256R, H365R | not specified | Uncertain significance
(Jul 19, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34648844
- GRCh38:
- Chr9:34648847
| GALT | R149H, R258H | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Nov 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648154
- GRCh38:
- Chr9:34648157
| GALT | H184Y, H75Y | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Sep 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647256
- GRCh38:
- Chr9:34647259
| GALT, LOC130001683 | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Jun 27, 2020) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649551
- GRCh38:
- Chr9:34649554
| GALT | T241N, T350N | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Nov 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34650422
- GRCh38:
- Chr9:34650425
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Likely benign
(Dec 31, 2020) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647931
- GRCh38:
- Chr9:34647934
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Likely benign
(Oct 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34649421
- GRCh38:
- Chr9:34649424
| GALT | S307T, S198T | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Oct 10, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34647865
- GRCh38:
- Chr9:34647868
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Likely benign
(Jul 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34648825
- GRCh38:
- Chr9:34648828
| GALT | Q252K, Q143K | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647864
- GRCh38:
- Chr9:34647867
| GALT | T138R, T29R | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Apr 16, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34650434
- GRCh38:
- Chr9:34650437
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specified | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34646733
- GRCh38:
- Chr9:34646736
| GALT | R11H | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Inborn genetic diseases | Uncertain significance
(Nov 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648885
- GRCh38:
- Chr9:34648888
| GALT | R272C, R163C | GALT-related condition, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Jan 31, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34648433
- GRCh38:
- Chr9:34648436
| GALT | R223C, R114C | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Premature ovarian failure
| Conflicting interpretations of pathogenicity
(Sep 17, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34649025
- GRCh38:
- Chr9:34649028
| GALT | T284N, T175N | not provided | Uncertain significance
(May 26, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34648853-34648854
- GRCh38:
- Chr9:34648856-34648857
| GALT | | not provided | Uncertain significance
(Mar 16, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34648786
- GRCh38:
- Chr9:34648789
| GALT | W239R, W130R | not provided | Uncertain significance
(Jul 11, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647709
- GRCh38:
- Chr9:34647712
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34647571
- GRCh38:
- Chr9:34647574
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Oct 9, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34647504
- GRCh38:
- Chr9:34647507
| GALT | D90H | not provided | Uncertain significance
(Feb 19, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647214
- GRCh38:
- Chr9:34647217
| GALT, LOC130001683 | L71V | not provided | Uncertain significance
(Oct 4, 2016) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647175
- GRCh38:
- Chr9:34647178
| LOC130001683, GALT | E58K | not provided | Uncertain significance
(Feb 2, 2016) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34650454
- GRCh38:
- Chr9:34650457
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not specified | Uncertain significance
(May 28, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648406
- GRCh38:
- Chr9:34648409
| GALT | G105R, G214R | not specified | Uncertain significance
(May 1, 2018) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648755
- GRCh38:
- Chr9:34648758
| GALT | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Nov 1, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34648462
- GRCh38:
- Chr9:34648465
| GALT | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Nov 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34648114
- GRCh38:
- Chr9:34648117
| GALT | | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Conflicting interpretations of pathogenicity
(Sep 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34647856
- GRCh38:
- Chr9:34647859
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not provided | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647865
- GRCh38:
- Chr9:34647868
| GALT | | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Benign/Likely benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648847
- GRCh38:
- Chr9:34648850
| GALT | R259Q, R150Q | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, not provided | Pathogenic/Likely pathogenic
(Sep 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647692
- GRCh38:
- Chr9:34647695
| GALT | R123* | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Jun 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649038
- GRCh38:
- Chr9:34649041
| GALT | | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Uncertain significance
(Jun 2, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649551
- GRCh38:
- Chr9:34649554
| GALT | P242fs | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648846
- GRCh38:
- Chr9:34648849
| GALT | R259W, R150W | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Jul 12, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649442
- Chr9:34646583-34646586
- GRCh38:
- Chr9:34649445
- Chr9:34646576-34646579
| GALT, GALT | N314D, N205D | not specified, not provided | Conflicting interpretations of pathogenicity
(Apr 6, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34648895
- GRCh38:
- Chr9:34648898
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647523-34647525
- GRCh38:
- Chr9:34647526-34647528
| GALT | N97del | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648418
- GRCh38:
- Chr9:34648421
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Benign; other
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649053
- GRCh38:
- Chr9:34649056
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649500
- GRCh38:
- Chr9:34649503
| GALT | R333Q, R224Q | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Jun 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647893
- GRCh38:
- Chr9:34647896
| GALT | R148W, R39W | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Mar 9, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647879
- GRCh38:
- Chr9:34647882
| GALT | S143L, S34L | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Jul 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647845
- GRCh38:
- Chr9:34647848
| GALT | H132Y, H23Y | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Jun 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34649447
- GRCh38:
- Chr9:34649450
| GALT | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Benign/Likely benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649050
- GRCh38:
- Chr9:34649053
| GALT | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648095
- GRCh38:
- Chr9:34648098
| GALT | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Benign
(Nov 1, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647949
- GRCh38:
- Chr9:34647952
| GALT | | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Likely benign
(Nov 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647206
- GRCh38:
- Chr9:34647209
| GALT, LOC130001683 | H68P, M1L | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Conflicting interpretations of pathogenicity
(Oct 29, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34650438
- GRCh38:
- Chr9:34650441
| GALT | I269V | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Oct 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649520
- GRCh38:
- Chr9:34649523
| GALT | E231K | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649516
- GRCh38:
- Chr9:34649519
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Oct 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649485
- GRCh38:
- Chr9:34649488
| GALT | R219H | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649476
- GRCh38:
- Chr9:34649479
| GALT | P325L, P216L | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(May 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34649463
- GRCh38:
- Chr9:34649466
| GALT | H212Y | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Dec 21, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34649460
- GRCh38:
- Chr9:34649463
| GALT | A211T | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Sep 7, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34649449
- GRCh38:
- Chr9:34649452
| GALT | W316*, W207* | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Aug 31, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648904
- GRCh38:
- Chr9:34648907
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Oct 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648864
- GRCh38:
- Chr9:34648867
| GALT | P156A | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Uncertain significance
(Aug 30, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648846-34648857
- GRCh38:
- Chr9:34648849-34648860
| GALT | | not specified | Uncertain significance
(Dec 10, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34648818
- GRCh38:
- Chr9:34648821
| GALT | W249*, W140* | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Sep 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648763
- GRCh38:
- Chr9:34648766
| GALT | R122H | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Aug 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648762
- GRCh38:
- Chr9:34648765
| GALT | R122C | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(May 8, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648418
- GRCh38:
- Chr9:34648421
| GALT | | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Mar 13, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648392
- GRCh38:
- Chr9:34648395
| GALT | Y100S | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Jun 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34648392
- GRCh38:
- Chr9:34648395
| GALT | Y100C | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Aug 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648376
- GRCh38:
- Chr9:34648379
| GALT | R204*, R95* | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Oct 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648368
- GRCh38:
- Chr9:34648371
| GALT | R92H | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Dec 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648367
- GRCh38:
- Chr9:34648370
| GALT | R92C | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Pathogenic/Likely pathogenic
(Apr 27, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648362
- GRCh38:
- Chr9:34648365
| GALT | Q91fs | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Mar 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648350
- GRCh38:
- Chr9:34648353
| GALT | L86P | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Jun 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648169
- GRCh38:
- Chr9:34648172
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Jul 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648158
- GRCh38:
- Chr9:34648161
| GALT | P76L | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Feb 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648156
- GRCh38:
- Chr9:34648159
| GALT | H75Q | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Aug 15, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34648128
- GRCh38:
- Chr9:34648131
| GALT | G66D | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Feb 6, 2017) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648088
- GRCh38:
- Chr9:34648091
| GALT | | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Benign
(Nov 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34648020
- GRCh38:
- Chr9:34648023
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647953
- GRCh38:
- Chr9:34647956
| GALT | V59L | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Sep 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647903
- GRCh38:
- Chr9:34647906
| GALT | V42A | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Conflicting interpretations of pathogenicity
(Jul 13, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr9:34647894
- GRCh38:
- Chr9:34647897
| GALT | R39Q | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Aug 2, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647864
- GRCh38:
- Chr9:34647867
| GALT | T29M | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647851
- GRCh38:
- Chr9:34647854
| GALT | W25fs | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Aug 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647802
- GRCh38:
- Chr9:34647805
| GALT | | not specified, not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
| Benign
(Jul 1, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647703
- GRCh38:
- Chr9:34647706
| GALT | | Galactose intolerance, not provided | Pathogenic
(Jun 9, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647652
- GRCh38:
- Chr9:34647655
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Oct 4, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647528
- GRCh38:
- Chr9:34647531
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic/Likely pathogenic
(Sep 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647521
- GRCh38:
- Chr9:34647524
| GALT | | not specified | Uncertain significance
(Jul 28, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr9:34647487
- GRCh38:
- Chr9:34647490
| GALT | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647202
- GRCh38:
- Chr9:34647205
| GALT, LOC130001683 | | not provided, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Pathogenic
(Jul 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647200
- GRCh38:
- Chr9:34647203
| GALT, LOC130001683 | | not specified, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | Uncertain significance
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr9:34647094
- GRCh38:
- Chr9:34647097
| GALT | | not provided | Uncertain significance
(Sep 9, 2016) | criteria provided, single submitter |