Total 16 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 SubmittersRCV000007266 RCV000055846 RCV001851716
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 SubmittersRCV000050235 RCV000055847 RCV000480176
NM_001287.6(CLCN7):c.643G>A (p.Gly215Arg)	SNV Germline	Chr16:1459139	Pathogenic	Condition: not provided Autosomal dominant osteopetrosis 2 CLCN7-related disorder	Criteria Provided Multiple Submitters No Conflicts	CA344955	rs_397515539	4 SubmittersRCV001781390 RCV001843355 RCV003415823
NM_001287.6(CLCN7):c.857G>A (p.Arg286Gln)	SNV Germline	Chr16:1456172	Conflicting classifications of pathogenicity	Autosomal dominant osteopetrosis 2 Inborn genetic diseases Abnormality of the skeletal system Condition: not provided Increased bone mineral density CLCN7-related disorder Autosomal recessive osteopetrosis 4	Criteria Provided Conflicting Classifications	CA7810545	rs_760956030	8 SubmittersRCV000505540 RCV001266783 RCV001814174 RCV001857236 RCV002279283 RCV003900059 RCV003988848
NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg)	SNV Unknown	Chr16:1448723	Likely pathogenic	Autosomal dominant osteopetrosis 2	Criteria Provided Single Submitter		rs_1064794323	1 SubmittersRCV001255865
NM_001287.6(CLCN7):c.952T>C (p.Phe318Leu)	SNV Germline	Chr16:1455760	Pathogenic	Autosomal dominant osteopetrosis 2	Criteria Provided Single Submitter		rs_2038825509	1 SubmittersRCV001310220
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		rs_371893553	3 SubmittersRCV001330544 RCV001859278 RCV003987835
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)	SNV Germline	Chr16:1456173	Pathogenic/Likely pathogenic	Condition: not provided Autosomal dominant osteopetrosis 2 Increased bone mineral density	Criteria Provided Multiple Submitters No Conflicts		rs_1291061962	4 SubmittersRCV001380068 RCV001843372 RCV002276719
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)	SNV Germline	Chr16:1455155	Likely pathogenic	Hypopigmentation, organomegaly, and delayed myelination and development Autosomal dominant osteopetrosis 2 Autosomal recessive osteopetrosis 4	Criteria Provided Single Submitter		rs_2142378398	1 SubmittersRCV001814660
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln)	SNV Germline	Chr16:1457264	Conflicting classifications of pathogenicity	Condition: not provided Hypopigmentation, organomegaly, and delayed myelination and development Autosomal dominant osteopetrosis 2 Autosomal recessive osteopetrosis 4	Criteria Provided Conflicting Classifications		rs_541169535	2 SubmittersRCV001911407 RCV002482778
NM_001287.6(CLCN7):c.994A>G (p.Met332Val)	SNV Germline	Chr16:1455238	Likely pathogenic	Autosomal dominant osteopetrosis 2	Criteria Provided Single Submitter		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		rs_760740877	2 SubmittersRCV002247767 RCV003093970
NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala)	SNV Germline	Chr16:1450552	Pathogenic	Autosomal dominant osteopetrosis 2	Criteria Provided Single Submitter		rs_1261991162	1 SubmittersRCV002249365
NM_001287.6(CLCN7):c.1448-2A>G	SNV Germline	Chr16:1450668	Likely pathogenic	Autosomal recessive osteopetrosis 4 Autosomal dominant osteopetrosis 2	Criteria Provided Single Submitter			1 SubmittersRCV002465037