| - GRCh37:
- Chr6:24174958-24178880
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Apr 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205338
- GRCh38:
- Chr6:24205110
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205339-24205342
- GRCh38:
- Chr6:24205111-24205114
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Dec 19, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178660
- GRCh38:
- Chr6:24178432
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Nov 23, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205216
- GRCh38:
- Chr6:24204988
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Apr 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178677
- GRCh38:
- Chr6:24178449
| DCDC2 | R403C | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Jan 15, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178828
- GRCh38:
- Chr6:24178600
| DCDC2 | D352E | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Jan 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302037
- GRCh38:
- Chr6:24301809
| DCDC2 | R155C | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Apr 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278258
- GRCh38:
- Chr6:24278030
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24289107
- GRCh38:
- Chr6:24288879
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Dec 16, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24175077
- GRCh38:
- Chr6:24174849
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Jan 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178612
- GRCh38:
- Chr6:24178384
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Jan 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24357666
- GRCh38:
- Chr6:24357438
| DCDC2, KAAG1 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Feb 2, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24291203-24291204
- GRCh38:
- Chr6:24290975-24290976
| DCDC2 | S221G | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Apr 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178664
- GRCh38:
- Chr6:24178436
| DCDC2 | G407V | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Apr 30, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302280
- GRCh38:
- Chr6:24302052
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(May 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178566
- GRCh38:
- Chr6:24178338
| DCDC2 | Q440* | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Mar 14, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178876
- GRCh38:
- Chr6:24178648
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Jul 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24357956
- GRCh38:
- Chr6:24357728
| KAAG1, DCDC2 | S8F | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Feb 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178719
- GRCh38:
- Chr6:24178491
| DCDC2 | E389K | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Jul 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24291312
- GRCh38:
- Chr6:24291084
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Mar 1, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24174983
- GRCh38:
- Chr6:24174755
| DCDC2 | N469T | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Oct 18, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178663
- GRCh38:
- Chr6:24178435
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Jul 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178609
- GRCh38:
- Chr6:24178381
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Aug 8, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302255
- GRCh38:
- Chr6:24302027
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Oct 4, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24291168
- GRCh38:
- Chr6:24290940
| DCDC2 | R232S | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(May 29, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24353862
- GRCh38:
- Chr6:24353634
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178571
- GRCh38:
- Chr6:24178343
| DCDC2 | S438I | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(May 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278333
- GRCh38:
- Chr6:24278105
| DCDC2 | T289M | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Aug 19, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278313
- GRCh38:
- Chr6:24278085
| DCDC2 | K296E | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Oct 17, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302033
- GRCh38:
- Chr6:24301805
| DCDC2 | L156H | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Mar 11, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24291174
- GRCh38:
- Chr6:24290946
| DCDC2 | M230I | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Aug 9, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24289063
- GRCh38:
- Chr6:24288835
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Feb 20, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205261
- GRCh38:
- Chr6:24205033
| DCDC2 | E331V | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Jun 10, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24357880
- GRCh38:
- Chr6:24357652
| DCDC2, KAAG1 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Oct 24, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205340
- GRCh38:
- Chr6:24205112
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Dec 2, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24289084
- GRCh38:
- Chr6:24288856
| DCDC2 | G252A | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Aug 31, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302233
- GRCh38:
- Chr6:24302005
| DCDC2 | R130C | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Oct 25, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24357854
- GRCh38:
- Chr6:24357626
| DCDC2, KAAG1 | S42F | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(May 12, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24301929
- GRCh38:
- Chr6:24301701
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Jun 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302044
- GRCh38:
- Chr6:24301816
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Feb 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205342
- GRCh38:
- Chr6:24205114
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Sep 23, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205348
- GRCh38:
- Chr6:24205120
| DCDC2 | | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66,
Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Apr 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24289144
- GRCh38:
- Chr6:24288916
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Jul 5, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278281
- GRCh38:
- Chr6:24278053
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Apr 6, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302287-24302288
- GRCh38:
- Chr6:24302059-24302060
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66,
Isolated neonatal sclerosing cholangitis, Nephronophthisis 19 | Benign/Likely benign
(Oct 26, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24289145
- GRCh38:
- Chr6:24288917
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Jul 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24357886
- GRCh38:
- Chr6:24357658
| DCDC2, KAAG1 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Aug 16, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302287
- GRCh38:
- Chr6:24302059
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19, Isolated neonatal sclerosing cholangitis,
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Oct 5, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178681
- GRCh38:
- Chr6:24178453
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Sep 6, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24357894
- GRCh38:
- Chr6:24357666
| DCDC2, KAAG1 | Y29H | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Aug 27, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302076
- GRCh38:
- Chr6:24301848
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely pathogenic
(Oct 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178665
- GRCh38:
- Chr6:24178437
| DCDC2 | G407R | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178601
- GRCh38:
- Chr6:24178373
| DCDC2 | D428V | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Sep 20, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302220
- GRCh38:
- Chr6:24301992
| DCDC2 | P134L | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Uncertain significance
(Nov 8, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178813
- GRCh38:
- Chr6:24178585
| DCDC2 | N357K | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Jul 26, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178647
- GRCh38:
- Chr6:24178419
| DCDC2 | G413S | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Oct 9, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278397
- GRCh38:
- Chr6:24278169
| DCDC2 | N268D | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Sep 24, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178661
- GRCh38:
- Chr6:24178433
| DCDC2 | T408I | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178643
- GRCh38:
- Chr6:24178415
| DCDC2 | E414A | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Sep 29, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205286
- GRCh38:
- Chr6:24205058
| DCDC2 | G323R | Autosomal recessive nonsyndromic hearing loss 66, Inborn genetic diseases | Uncertain significance
(Mar 7, 2023) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24278354-24278356
- GRCh38:
- Chr6:24278126-24278128
| DCDC2 | E281del | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis,
Autosomal recessive nonsyndromic hearing loss 66, Nephronophthisis 19, not specified,
not provided | Uncertain significance
(Jun 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24302087
- GRCh38:
- Chr6:24301859
| DCDC2 | | not provided, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19,
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
| Benign
(Oct 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24302182
- GRCh38:
- Chr6:24301954
| DCDC2 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Benign
(Oct 3, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24174955
- GRCh38:
- Chr6:24174727
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided,
Nephronophthisis 19 | Benign
(Jul 30, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24357934
- GRCh38:
- Chr6:24357706
| DCDC2, KAAG1 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Likely benign
(Sep 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24174967
- GRCh38:
- Chr6:24174739
| DCDC2 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Likely benign
(Jul 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24289138
- GRCh38:
- Chr6:24288910
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Jan 26, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302029
- GRCh38:
- Chr6:24301801
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(May 29, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178785
- GRCh38:
- Chr6:24178557
| DCDC2 | S367T | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity
(Jun 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24291179
- GRCh38:
- Chr6:24290951
| DCDC2 | T229A | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66,
Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Feb 23, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24357701
- GRCh38:
- Chr6:24357473
| DCDC2, KAAG1 | A93D | Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66,
Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Dec 7, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24289111
- GRCh38:
- Chr6:24288883
| DCDC2 | P243R | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(May 27, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205283
- GRCh38:
- Chr6:24205055
| DCDC2 | A324S | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Apr 4, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178808
- GRCh38:
- Chr6:24178580
| DCDC2 | D359V | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Sep 1, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24302272
- GRCh38:
- Chr6:24302044
| DCDC2 | V117I | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19,
Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Mar 18, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24301950-24301951
- GRCh38:
- Chr6:24301722-24301723
| DCDC2 | V184fs | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19
| Likely pathogenic
(Jun 20, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278370
- GRCh38:
- Chr6:24278142
| DCDC2 | K277* | Autosomal recessive nonsyndromic hearing loss 66 | Likely pathogenic
(May 28, 2019) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24289089
- GRCh38:
- Chr6:24288861
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity
(Aug 4, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24175045
- GRCh38:
- Chr6:24174817
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66 | Likely benign
(Dec 14, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178720
- GRCh38:
- Chr6:24178492
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Likely benign
(Sep 17, 2021) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24178730
- GRCh38:
- Chr6:24178502
| DCDC2 | P385L | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Aug 22, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24278414
- GRCh38:
- Chr6:24278186
| DCDC2 | T262I | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis | Uncertain significance
(Sep 13, 2022) | criteria provided, single submitter |
| - GRCh37:
- Chr6:24205299
- GRCh38:
- Chr6:24205071
| DCDC2 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Conflicting interpretations of pathogenicity
(Sep 13, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24205254
- GRCh38:
- Chr6:24205026
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity
(Aug 23, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24302219
- GRCh38:
- Chr6:24301991
| DCDC2 | | not provided, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis
| Conflicting interpretations of pathogenicity
(Oct 25, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24178860
- GRCh38:
- Chr6:24178632
| DCDC2 | R342W | not provided, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
| Uncertain significance
(Aug 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24178818
- GRCh38:
- Chr6:24178590
| DCDC2 | A356T | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66,
Nephronophthisis 19, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity
(Feb 1, 2023) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24278429
- GRCh38:
- Chr6:24278201
| DCDC2 | R257H | Isolated neonatal sclerosing cholangitis, Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66,
not provided, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66,
Inborn genetic diseases | Uncertain significance
(Mar 20, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24301957
- GRCh38:
- Chr6:24301729
| DCDC2 | | not provided, Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66
| Conflicting interpretations of pathogenicity
(Oct 3, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24302281
- GRCh38:
- Chr6:24302053
| DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, not provided
| Conflicting interpretations of pathogenicity
(Sep 29, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24205288
- GRCh38:
- Chr6:24205060
| DCDC2 | R322P | not provided, Isolated neonatal sclerosing cholangitis, Nephronophthisis 19,
Autosomal recessive nonsyndromic hearing loss 66 | Uncertain significance
(Jan 7, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24205282-24205283
- GRCh38:
- Chr6:24205054-24205055
| DCDC2 | A324fs | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis,
Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, not provided
| Pathogenic/Likely pathogenic
(Oct 28, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24357828
- GRCh38:
- Chr6:24357600
| DCDC2, KAAG1 | V51L | Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis,
not provided | Uncertain significance
(Mar 21, 2022) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24357922
- GRCh38:
- Chr6:24357694
| KAAG1, DCDC2 | | Isolated neonatal sclerosing cholangitis, Autosomal recessive nonsyndromic hearing loss 66, not provided
| Conflicting interpretations of pathogenicity
(Jun 24, 2021) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24175025
- GRCh38:
- Chr6:24174797
| DCDC2 | V455A | Nephronophthisis 19, Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis,
not provided | Uncertain significance
(Jul 20, 2021) | criteria provided, multiple submitters, no conflicts |
| - GRCh37:
- Chr6:24289124
- GRCh38:
- Chr6:24288896
| DCDC2 | S239A | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24301957
- GRCh38:
- Chr6:24301729
| DCDC2 | S181R | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, Inborn genetic diseases,
not provided | Conflicting interpretations of pathogenicity
(Oct 27, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24291168
- GRCh38:
- Chr6:24290940
| DCDC2 | | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not provided
| Conflicting interpretations of pathogenicity
(Jun 14, 2022) | criteria provided, conflicting interpretations |
| - GRCh37:
- Chr6:24278382
- GRCh38:
- Chr6:24278154
| DCDC2 | P273S | Autosomal recessive nonsyndromic hearing loss 66, Isolated neonatal sclerosing cholangitis, not specified,
not provided | Conflicting interpretations of pathogenicity
(Oct 1, 2022) | criteria provided, conflicting interpretations |