Variants in gene PCCA with conflicting interpretations "likely pathogenic" and "uncertain significance"

Submission 1 (likely pathogenic) minimum review status:		Submission 1 (likely pathogenic) method:
Submission 2 (uncertain significance) minimum review status:		Submission 2 (uncertain significance) method:
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants with conflicting interpretations: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000282.4(PCCA):c.782A>G (p.Glu261Gly)	rs1169861687	0.00004
NM_000282.4(PCCA):c.802C>T (p.Arg268Cys)	rs774738181	0.00003
NM_000282.4(PCCA):c.1593_1595del (p.Leu532del)	rs937519016	0.00001
NM_000282.4(PCCA):c.1746G>A (p.Ser582=)	rs192171304	0.00001
NM_000282.4(PCCA):c.1997T>A (p.Met666Lys)	rs999241357	0.00001
NM_000282.4(PCCA):c.230G>A (p.Arg77Gln)	rs1387778734	0.00001
NM_000282.4(PCCA):c.2dup (p.Met1fs)	rs1179536678	0.00001
NM_000282.4(PCCA):c.437T>C (p.Leu146Pro)	rs774457925	0.00001
NM_000282.4(PCCA):c.688C>T (p.Arg230Cys)	rs778530330	0.00001
NM_000282.4(PCCA):c.893A>G (p.Lys298Arg)	rs1444049793	0.00001
NM_000282.4(PCCA):c.1353+5_1353+9del	rs764045674
NM_000282.4(PCCA):c.1643+1_1643+2dup	rs1555425626
NM_000282.4(PCCA):c.1682T>G (p.Leu561Arg)	rs2152811823
NM_000282.4(PCCA):c.2162_2163insAG (p.Asp722fs)	rs749875940
NM_000282.4(PCCA):c.659C>A (p.Ala220Asp)	rs1555396108
NM_000282.4(PCCA):c.947T>A (p.Met316Lys)	rs137861347

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.