Total 15 pathogenic variants reported for Osteopetrosis with renal tubular acidosis

Variant Name	Variant Type	Variant Genomic Location	Clinical Significance	Phenotype Condition	Review Status	ClinGen Allele	dbSNP ID	Variation/condition record
NM_000067.3(CA2):c.319C>T (p.His107Tyr)	SNV Germline	Chr8:85473779	Pathogenic	Osteopetrosis with renal tubular acidosis	No Assertion Criteria Provided	CA114625	rs_118203933	1 SubmittersRCV000000964
NM_000067.3(CA2):c.508-1G>C	SNV Germline	Chr8:85477119	Pathogenic	Osteopetrosis with renal tubular acidosis	No Assertion Criteria Provided		rs_1444065478	1 SubmittersRCV000000965
NM_000067.3(CA2):c.120T>G (p.Tyr40Ter)	SNV Germline	Chr8:85465357	Pathogenic	Osteopetrosis with renal tubular acidosis	No Assertion Criteria Provided	CA114626	rs_118203934	1 SubmittersRCV000000967
NM_000067.3(CA2):c.232+1G>A	SNV Germline	Chr8:85465470	Pathogenic	Osteopetrosis with renal tubular acidosis Condition: not provided	Criteria Provided Multiple Submitters No Conflicts	CA4796434	rs_573750741	8 SubmittersRCV000373455 RCV000726247
NM_000067.3(CA2):c.508-7G>A	SNV Germline	Chr8:85477113	Conflicting classifications of pathogenicity	Osteopetrosis with renal tubular acidosis Condition: not provided	Criteria Provided Conflicting Classifications	CA10625861	rs_886063149	2 SubmittersRCV000277175 RCV003727720
NM_000067.3(CA2):c.21C>A (p.Tyr7Ter)	SNV Germline	Chr8:85464102	Pathogenic	Osteopetrosis with renal tubular acidosis	Criteria Provided Single Submitter	CA371423059	rs_1554709677	1 SubmittersRCV000625902
NM_000067.3(CA2):c.579C>G (p.Tyr193Ter)	SNV Germline	Chr8:85477191	Likely pathogenic	Osteopetrosis with renal tubular acidosis Neurodevelopmental delay	Criteria Provided Multiple Submitters No Conflicts		rs_1203921376	2 SubmittersRCV000991390 RCV002274114
NM_000067.3(CA2):c.462G>A (p.Pro154=)	SNV Germline	Chr8:85475815	Conflicting classifications of pathogenicity	Osteopetrosis with renal tubular acidosis Condition: not provided	Criteria Provided Conflicting Classifications		rs_140623407	2 SubmittersRCV001163962 RCV002067997
NM_000067.3(CA2):c.275A>C (p.Gln92Pro)	SNV Germline	Chr8:85473735	Likely pathogenic	Osteopetrosis with renal tubular acidosis	Criteria Provided Single Submitter		rs_1304160279	1 SubmittersRCV001250415
NM_000067.3(CA2):c.339A>G (p.Lys113=)	SNV Germline	Chr8:85473799	Conflicting classifications of pathogenicity	Condition: not provided Osteopetrosis with renal tubular acidosis	Criteria Provided Conflicting Classifications		rs_370128128	3 SubmittersRCV002025080 RCV002492229
NM_000067.3(CA2):c.610G>T (p.Glu204Ter)	SNV Germline	Chr8:85477222	Pathogenic	Osteopetrosis with renal tubular acidosis	Criteria Provided Single Submitter			1 SubmittersRCV003486498