Total 38 pathogenic variants reported for Autosomal recessive osteopetrosis 4 
Variant Name Variant Type Variant Genomic Location Clinical Significance Phenotype Condition Review Status ClinGen Allele dbSNP ID Variation/condition record
NM_001287.6(CLCN7):c.1663C>T (p.Gln555Ter) SNV
Germline		 Chr16:1449282 Pathogenic Autosomal recessive osteopetrosis 4 No Assertion Criteria Provided
 CA118538 rs_121434432

1 SubmittersRCV000007263
NM_001287.6(CLCN7):c.2285G>A (p.Arg762Gln) SNV
Germline		 Chr16:1447052 Pathogenic Autosomal recessive osteopetrosis 4 No Assertion Criteria Provided
 CA118540 rs_121434433

1 SubmittersRCV000007264
NM_001287.6(CLCN7):c.2297T>C (p.Leu766Pro) SNV
Germline		 Chr16:1447040 Pathogenic Autosomal recessive osteopetrosis 4 No Assertion Criteria Provided
 CA118541 rs_121434434

1 SubmittersRCV000007265
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) SNV
Germline		 Chr16:1447038 Pathogenic Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA253987 rs_121434435

4 SubmittersRCV000007266RCV000055846RCV001851716
NM_001287.6(CLCN7):c.781A>T (p.Ile261Phe) SNV
Germline		 Chr16:1457295 Pathogenic Autosomal recessive osteopetrosis 4 No Assertion Criteria Provided
 CA118542 rs_121434436

1 SubmittersRCV000007268
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) SNV
Germline		 Chr16:1461460 Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA264215 rs_387907576

5 SubmittersRCV000050235RCV000055847RCV000480176
NM_001287.6(CLCN7):c.2144A>G (p.Tyr715Cys) SNV
Germline		 Chr16:1447498 Pathogenic Condition: not provided
Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal dominant osteopetrosis 2
Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal recessive osteopetrosis 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA16042924 rs_1057517718

4 SubmittersRCV000412760RCV000824813RCV005429016
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln) SNV
Germline		 Chr16:1456172 Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2
Inborn genetic diseases
Abnormality of the skeletal system
Condition: not provided
Autosomal recessive osteopetrosis 4
CLCN7-related disorder
Disorder of bone		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7810545 rs_760956030

9 SubmittersRCV000505540RCV001266783RCV001814174RCV001857236RCV003988848RCV003900059RCV006268823
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln) SNV
Germline		 Chr16:1449081 Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA7810105 rs_757788894

2 SubmittersRCV000578154RCV006463412
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser) SNV
Germline		 Chr16:1459141 Pathogenic/Likely pathogenic Autosomal recessive osteopetrosis 4
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7810682 rs_367567630

3 SubmittersRCV000656495RCV005091880
NM_001287.6(CLCN7):c.2250+1G>T SNV
Germline		 Chr16:1447391 Pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394185445 rs_1567263375

1 SubmittersRCV000710065
NM_001287.6(CLCN7):c.839G>A (p.Arg280His) SNV
Germline		 Chr16:1456190 Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 4
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA394190457 rs_1163577336

2 SubmittersRCV000995510RCV003708555
NM_001287.6(CLCN7):c.1617+119G>A SNV
Germline		 Chr16:1450378 Pathogenic Condition: not provided
Autosomal recessive osteopetrosis 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA276673150 rs_922106856

3 SubmittersRCV003227892RCV001027540
NM_001287.6(CLCN7):c.139C>T (p.Gln47Ter) SNV
Germline		 Chr16:1474836 Pathogenic Condition: not provided
Autosomal recessive osteopetrosis 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA276630015 rs_948980711

3 SubmittersRCV001091434RCV005416121
NM_001287.6(CLCN7):c.838C>T (p.Arg280Cys) SNV
Germline		 Chr16:1456191 Conflicting classifications of pathogenicity Osteopetrosis
Condition: not provided
Autosomal recessive osteopetrosis 4		 Criteria Provided
Conflicting Classifications
 CA394190459 rs_1395527274

4 SubmittersRCV001120326RCV002556579RCV005866812
NM_001287.6(CLCN7):c.2240C>T (p.Thr747Met) SNV
Germline		 Chr16:1447402 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive osteopetrosis 4
Autosomal dominant osteopetrosis 2
Hypopigmentation, organomegaly, and delayed myelination and development		 Criteria Provided
Conflicting Classifications
 CA7809894 rs_201810925

2 SubmittersRCV001316746RCV005014396
NM_001287.6(CLCN7):c.739-18G>A SNV
Germline		 Chr16:1457355 Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2
Condition: not provided
Autosomal recessive osteopetrosis 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7810590 rs_371893553

4 SubmittersRCV001330544RCV001859278RCV003987835
NM_001287.6(CLCN7):c.1561G>A (p.Gly521Arg) SNV
Germline		 Chr16:1450553 Pathogenic Autosomal recessive osteopetrosis 4 No Assertion Criteria Provided
 CA7810179 rs_368190250

1 SubmittersRCV001375477
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe) SNV
Germline		 Chr16:1446717 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394184987 rs_1172932679

1 SubmittersRCV001526494
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) SNV
Germline		 Chr16:1455155 Likely pathogenic Autosomal dominant osteopetrosis 2
Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal recessive osteopetrosis 4		 Criteria Provided
Single Submitter
 CA394189713 rs_2142378398

1 SubmittersRCV001814660
NM_001287.6(CLCN7):c.2284C>T (p.Arg762Trp) SNV
Germline		 Chr16:1447053 Pathogenic/Likely pathogenic Condition: not provided
Autosomal recessive osteopetrosis 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394185256 rs_1490598538

2 SubmittersRCV001987502RCV004816803
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) SNV
Germline		 Chr16:1457264 Conflicting classifications of pathogenicity Condition: not provided
Autosomal recessive osteopetrosis 4
Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal dominant osteopetrosis 2		 Criteria Provided
Conflicting Classifications
 CA7810569 rs_541169535

2 SubmittersRCV001911407RCV002482778
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met) SNV
Germline		 Chr16:1454439 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394189586 rs_1410701535

1 SubmittersRCV002247764
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp) SNV
Germline		 Chr16:1449082 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394186933 rs_2038701489

1 SubmittersRCV002247766
NM_001287.6(CLCN7):c.1448-2A>G SNV
Germline		 Chr16:1450668 Likely pathogenic Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4		 Criteria Provided
Single Submitter
 CA394187881 rs_2505819682

1 SubmittersRCV002465037
NM_001287.6(CLCN7):c.1194G>A (p.Trp398Ter) SNV
Germline		 Chr16:1453854 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant osteopetrosis 2
Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal recessive osteopetrosis 4		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394189368 rs_757198557

3 SubmittersRCV002622619RCV005863711
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu) SNV
Germline		 Chr16:1452804 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394189131 rs_1382966039

1 SubmittersRCV003447463
NM_001287.6(CLCN7):c.1394C>A (p.Ala465Asp) SNV
Germline		 Chr16:1451676 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394188160 rs_2505822019

1 SubmittersRCV003989250
NM_001287.6(CLCN7):c.1669+1G>C SNV
Germline		 Chr16:1449275 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394187017 rs_2505816525

1 SubmittersRCV003990854
NM_001287.6(CLCN7):c.1806C>G (p.Tyr602Ter) SNV
Germline		 Chr16:1448758 Likely pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter
 CA394186426 rs_112753643

1 SubmittersRCV004527525
NM_001287.6(CLCN7):c.1883+1G>A SNV
Germline		 Chr16:1448680 Likely pathogenic Autosomal recessive osteopetrosis 4
Autosomal dominant osteopetrosis 2
Hypopigmentation, organomegaly, and delayed myelination and development		 Criteria Provided
Single Submitter

1 SubmittersRCV005013802
NM_001287.6(CLCN7):c.797C>G (p.Ser266Ter) SNV
Germline		 Chr16:1457279 Pathogenic Autosomal recessive osteopetrosis 4 Criteria Provided
Single Submitter

1 SubmittersRCV005416162