| - GRCh37:
- Chr2:215854076
- GRCh38:
- Chr2:214989352
| ABCA12 | W951S, W1269S | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215854042
- GRCh38:
- Chr2:214989318
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215852398
- GRCh38:
- Chr2:214987674
| ABCA12 | M1317V, M999V | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Feb 3, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215839577
- GRCh38:
- Chr2:214974853
| ABCA12 | P1480L, P1798L | Congenital ichthyosis of skin, Autosomal recessive congenital ichthyosis 4A, Autosomal recessive congenital ichthyosis 4B
| Uncertain significance
(Jan 6, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215838755
- GRCh38:
- Chr2:214974031
| ABCA12 | N1509S, N1827S | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215835130
- GRCh38:
- Chr2:214970406
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215813759
- GRCh38:
- Chr2:214949035
| ABCA12, SNHG31 | | Congenital ichthyosis of skin, not provided | Uncertain significance
(Jun 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215813322
- GRCh38:
- Chr2:214948598
| ABCA12, SNHG31 | E2050K, E2368K | Congenital ichthyosis of skin, not provided | Uncertain significance
(Apr 12, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215809803
- GRCh38:
- Chr2:214945079
| ABCA12, SNHG31 | P2104L, P2422L | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215807696
- GRCh38:
- Chr2:214942972
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796450
- GRCh38:
- Chr2:214931726
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:216003149
- GRCh38:
- Chr2:215138426
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215976331
- GRCh38:
- Chr2:215111608
| ABCA12 | A51E | Inborn genetic diseases, Congenital ichthyosis of skin | Uncertain significance
(Jan 23, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215928825
- GRCh38:
- Chr2:215064102
| ABCA12 | R94H | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215917292
- GRCh38:
- Chr2:215052568
| ABCA12 | | not provided, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(May 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215914533
- GRCh38:
- Chr2:215049809
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215884294
- GRCh38:
- Chr2:215019570
| ABCA12 | D505V, D187V | Inborn genetic diseases, Congenital ichthyosis of skin | Uncertain significance
(Jun 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215884152
- GRCh38:
- Chr2:215019428
| ABCA12 | Q204P, Q522P | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215848589
- GRCh38:
- Chr2:214983865
| ABCA12 | I1070M, I1388M | Inborn genetic diseases, Congenital ichthyosis of skin | Uncertain significance
(Aug 17, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215848510
- GRCh38:
- Chr2:214983786
| ABCA12 | T1097P, T1415P | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215848503
- GRCh38:
- Chr2:214983779
| ABCA12 | R1417Q, R1099Q | Congenital ichthyosis of skin | Uncertain significance
(Jul 14, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215834993
- GRCh38:
- Chr2:214970269
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215834984
- GRCh38:
- Chr2:214970260
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215831607
- GRCh38:
- Chr2:214966883
| ABCA12 | R1950Q, R1632Q | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215821416
- GRCh38:
- Chr2:214956692
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215797083
- GRCh38:
- Chr2:214932359
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215914342
- GRCh38:
- Chr2:215049618
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215882745
- GRCh38:
- Chr2:215018021
| ABCA12 | D272A, D590A | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215880402
- GRCh38:
- Chr2:215015678
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215876291
- GRCh38:
- Chr2:215011567
| ABCA12 | T417I, T735I | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215876191
- GRCh38:
- Chr2:215011467
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215875208
- GRCh38:
- Chr2:215010484
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215848402
- GRCh38:
- Chr2:214983678
| ABCA12 | T1133S, T1451S | Inborn genetic diseases, Congenital ichthyosis of skin | Uncertain significance
(Mar 28, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215845287
- GRCh38:
- Chr2:214980563
| ABCA12 | G1554R, G1236R | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215843598
- GRCh38:
- Chr2:214978874
| ABCA12 | R1636Q, R1318Q | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215820079
- GRCh38:
- Chr2:214955355
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215820049
- GRCh38:
- Chr2:214955325
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215818762
- GRCh38:
- Chr2:214954038
| ABCA12, SNHG31 | G2155S, G1837S | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215797014
- GRCh38:
- Chr2:214932290
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796993
- GRCh38:
- Chr2:214932269
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Feb 9, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796980
- GRCh38:
- Chr2:214932256
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796893
- GRCh38:
- Chr2:214932169
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215890383
- GRCh38:
- Chr2:215025659
| ABCA12 | | Congenital ichthyosis of skin, not provided | Benign/Likely benign
(Aug 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215884397
- GRCh38:
- Chr2:215019673
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215875143
- GRCh38:
- Chr2:215010419
| ABCA12 | P477L, P795L | Congenital ichthyosis of skin | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215862405
- GRCh38:
- Chr2:214997681
| ABCA12 | | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Apr 12, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215843563
- GRCh38:
- Chr2:214978839
| ABCA12 | G1648R, G1330R | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215843148
- GRCh38:
- Chr2:214978424
| ABCA12 | M1356V, M1674V | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215843082
- GRCh38:
- Chr2:214978358
| ABCA12 | D1378N, D1696N | Congenital ichthyosis of skin, Inborn genetic diseases | Uncertain significance
(Jul 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215840776
- GRCh38:
- Chr2:214976052
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215840509
- GRCh38:
- Chr2:214975785
| ABCA12 | A1476V, A1794V | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215818741
- GRCh38:
- Chr2:214954017
| SNHG31, ABCA12 | Q1844K, Q2162K | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215818614
- GRCh38:
- Chr2:214953890
| ABCA12, SNHG31 | R2204Q, R1886Q | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Sep 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215818604
- GRCh38:
- Chr2:214953880
| SNHG31, ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215815787
- GRCh38:
- Chr2:214951063
| ABCA12, SNHG31 | N2223S, N1905S | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215815751
- GRCh38:
- Chr2:214951027
| ABCA12, SNHG31 | E1917A, E2235A | Congenital ichthyosis of skin | Uncertain significance
(Apr 27, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796784
- GRCh38:
- Chr2:214932060
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796645
- GRCh38:
- Chr2:214931921
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796634
- GRCh38:
- Chr2:214931910
| SNHG31, ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215796626
- GRCh38:
- Chr2:214931902
| ABCA12, SNHG31 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215852417
- GRCh38:
- Chr2:214987693
| ABCA12 | | not provided, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(May 25, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215833534
- GRCh38:
- Chr2:214968810
| ABCA12 | | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Apr 20, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215813807
- GRCh38:
- Chr2:214949083
| ABCA12, SNHG31 | I2307V, I1989V | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215818724
- GRCh38:
- Chr2:214954000
| ABCA12, SNHG31 | | Congenital ichthyosis of skin, not provided | Benign/Likely benign
(Oct 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215798886
- GRCh38:
- Chr2:214934162
| ABCA12, SNHG31 | | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Jul 6, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215815760
- GRCh38:
- Chr2:214951036
| ABCA12, SNHG31 | D2232G, D1914G | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215891670
- GRCh38:
- Chr2:215026946
| ABCA12 | | Congenital ichthyosis of skin, not provided | Benign/Likely benign
(Sep 1, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215901688
- GRCh38:
- Chr2:215036964
| ABCA12 | S325F | Congenital ichthyosis of skin, not provided | Benign/Likely benign
(Dec 31, 2019) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215798851
- GRCh38:
- Chr2:214934127
| ABCA12, SNHG31 | T2544I, T2226I | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215821412
- GRCh38:
- Chr2:214956688
| ABCA12, SNHG31 | V2070I, V1752I | not provided, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(Jul 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215914494
- GRCh38:
- Chr2:215049770
| ABCA12 | | Congenital ichthyosis of skin, not provided | Benign/Likely benign
(Jul 17, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:57324215
- GRCh38:
- Chr12:56930431
| SDR9C7 | E119K | Congenital ichthyosis of skin | Likely pathogenic
(Jun 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr12:57327934
- GRCh38:
- Chr12:56934150
| SDR9C7 | G38R | Ichthyosis, congenital, autosomal recessive 13, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(Jun 8, 2018) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215914349
- GRCh38:
- Chr2:215049625
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Oct 18, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215896573
- GRCh38:
- Chr2:215031849
| ABCA12 | T345P, T27P | Congenital ichthyosis of skin | Uncertain significance
(Apr 28, 2017) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215815723-215815729
- GRCh38:
- Chr2:214950999-214951005
| ABCA12, SNHG31 | E1927fs, E2245fs | Congenital ichthyosis of skin | Uncertain significance
(Dec 8, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215890462
- GRCh38:
- Chr2:215025738
| ABCA12 | S408P, S90P | not provided, Congenital ichthyosis of skin | Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215855569
- GRCh38:
- Chr2:214990845
| ABCA12 | M1161L, M843L | Congenital ichthyosis of skin, not provided | Benign/Likely benign
(Sep 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr12:57323240
- GRCh38:
- Chr12:56929456
| SDR9C7 | R220* | Ichthyosis, congenital, autosomal recessive 13, Congenital ichthyosis of skin, not provided
| Pathogenic
(Aug 25, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215891583
- GRCh38:
- Chr2:215026859
| ABCA12 | V381L, V63L | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Jul 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:216002939
- GRCh38:
- Chr2:215138216
| ABCA12 | | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215914491
- GRCh38:
- Chr2:215049767
| ABCA12 | | Congenital ichthyosis of skin, not provided | Benign
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215914446
- GRCh38:
- Chr2:215049722
| ABCA12 | W199C | Congenital ichthyosis of skin, not provided | Benign
(Sep 29, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215910724
- GRCh38:
- Chr2:215046000
| ABCA12 | N237H | Congenital ichthyosis of skin, not provided | Benign
(Oct 31, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215910600
- GRCh38:
- Chr2:215045876
| ABCA12 | S278L | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215901782
- GRCh38:
- Chr2:215037058
| ABCA12 | L294V | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215891592
- GRCh38:
- Chr2:215026868
| ABCA12 | | not provided, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(Dec 31, 2019) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215891558
- GRCh38:
- Chr2:215026834
| ABCA12 | A389V, A71V | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215891550
- GRCh38:
- Chr2:215026826
| ABCA12 | S392P, S74P | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215890498
- GRCh38:
- Chr2:215025774
| ABCA12 | L396V, L78V | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215890388
- GRCh38:
- Chr2:215025664
| ABCA12 | | not provided, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(Feb 24, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215884512
- GRCh38:
- Chr2:215019788
| ABCA12 | | Congenital ichthyosis of skin, not provided | Conflicting interpretations of pathogenicity
(Jul 28, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215884388
- GRCh38:
- Chr2:215019664
| ABCA12 | L474F, L156F | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215884381
- GRCh38:
- Chr2:215019657
| ABCA12 | A476V, A158V | not provided, Congenital ichthyosis of skin | Conflicting interpretations of pathogenicity
(Jun 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215884380
- GRCh38:
- Chr2:215019656
| ABCA12 | | not provided, Congenital ichthyosis of skin | Benign
(Aug 22, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215884346
- GRCh38:
- Chr2:215019622
| ABCA12 | | not specified, not provided, Congenital ichthyosis of skin
| Conflicting interpretations of pathogenicity
(May 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr2:215884293
- GRCh38:
- Chr2:215019569
| ABCA12 | D505E, D187E | Congenital ichthyosis of skin | Uncertain significance
(Jan 13, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215884092
- GRCh38:
- Chr2:215019368
| ABCA12 | V542A, V224A | not provided, Congenital ichthyosis of skin | Benign
(Oct 10, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr2:215882771
- GRCh38:
- Chr2:215018047
| ABCA12 | D581E, D263E | Congenital ichthyosis of skin | Uncertain significance
(Jan 12, 2018) | criteria provided, single submitter |
| - GRCh37:
- Chr2:215880247
- GRCh38:
- Chr2:215015523
| ABCA12 | | not provided, Congenital ichthyosis of skin | Benign/Likely benign
(Sep 27, 2022) | criteria provided, multiple submitters, no conflicts |