Total 21 pathogenic variants reported for Autosomal dominant osteopetrosis 2 
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.2299C>T (p.Arg767Trp) SNV
Germline		 Chr16:1447038 Pathogenic Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Condition: not provided		 Criteria Provided
Single Submitter
 CA253987 rs_121434435

3 SubmittersRCV000007266RCV000055846RCV001851716
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.643G>A (p.Gly215Arg) SNV
Germline		 Chr16:1459139 Pathogenic Autosomal dominant osteopetrosis 2
CLCN7-related disorder
Condition: not provided		 Criteria Provided
Multiple Submitters
No Conflicts
 CA344955 rs_397515539

5 SubmittersRCV001843355RCV003415823RCV001781390
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
Autosomal recessive osteopetrosis 4
Hypopigmentation, organomegaly, and delayed myelination and development		 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
Increased bone mineral density
Autosomal recessive osteopetrosis 4
CLCN7-related disorder		 Criteria Provided
Multiple Submitters
No Conflicts
 CA7810545 rs_760956030

8 SubmittersRCV000505540RCV001266783RCV001814174RCV001857236RCV002279283RCV003988848RCV003900059
NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg) SNV
Unknown		 Chr16:1448723 Likely pathogenic Autosomal dominant osteopetrosis 2 Criteria Provided
Single Submitter
 CA394186346 rs_1064794323

1 SubmittersRCV001255865
NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu) SNV
Germline		 Chr16:1455760 Pathogenic Autosomal dominant osteopetrosis 2
CLCN7-related disorder		 Criteria Provided
Single Submitter
 CA394190018 rs_2038825509

2 SubmittersRCV001310220RCV004727123
NM_001287.6(CLCN7):c.2240C>T (p.Thr747Met) SNV
Germline		 Chr16:1447402 Conflicting classifications of pathogenicity Condition: not provided
Hypopigmentation, organomegaly, and delayed myelination and development
Autosomal recessive osteopetrosis 4
Autosomal dominant osteopetrosis 2		 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

3 SubmittersRCV001330544RCV001859278RCV003987835
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp) SNV
Germline		 Chr16:1456173 Pathogenic/Likely pathogenic Condition: not provided
Increased bone mineral density
Autosomal dominant osteopetrosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394190396 rs_1291061962

5 SubmittersRCV001380068RCV002276719RCV001843372
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.812G>A (p.Arg271Gln) SNV
Germline		 Chr16:1457264 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant osteopetrosis 2
Autosomal recessive osteopetrosis 4
Hypopigmentation, organomegaly, and delayed myelination and development		 Criteria Provided
Conflicting Classifications
 CA7810569 rs_541169535

2 SubmittersRCV001911407RCV002482778
NM_001287.6(CLCN7):c.1576C>T (p.Arg526Trp) SNV
Germline		 Chr16:1450538 Pathogenic/Likely pathogenic Condition: not provided
Autosomal dominant osteopetrosis 2		 Criteria Provided
Multiple Submitters
No Conflicts
 CA394187470 rs_1233085260

3 SubmittersRCV001941622RCV004785410
NM_001287.6(CLCN7):c.994A>G (p.Met332Val) SNV
Germline		 Chr16:1455238 Likely pathogenic Autosomal dominant osteopetrosis 2 Criteria Provided
Single Submitter
 CA394189902 rs_2142378539

1 SubmittersRCV002052291
NM_001287.6(CLCN7):c.2274C>G (p.Phe758Leu) SNV
Germline		 Chr16:1447063 Conflicting classifications of pathogenicity Autosomal dominant osteopetrosis 2
Condition: not provided		 Criteria Provided
Conflicting Classifications
 CA394185314 rs_760740877

2 SubmittersRCV002247767RCV003093970
NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala) SNV
Germline		 Chr16:1450552 Pathogenic Autosomal dominant osteopetrosis 2 Criteria Provided
Single Submitter
 CA394187499 rs_1261991162

1 SubmittersRCV002249365
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.1750A>G (p.Met584Val) SNV
Germline		 Chr16:1449013 Conflicting classifications of pathogenicity Condition: not provided
Autosomal dominant osteopetrosis 2		 Criteria Provided
Conflicting Classifications
 CA7810093 rs_749027624

2 SubmittersRCV003031161RCV005416132
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