"PreventionGenetics, part of Exact Sciences"[submitter] AND "CA4"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17607	NM_000717.5(CA4):c.40C>T (p.Arg14Trp)	CA4 (R14W)	Single nucleotide variant (missense variant +1 more)	CA4-related condition +2 more	GConflicting classifications of pathogenicity
Select item 736549	NM_000717.5(CA4):c.58+10C>G	CA4	Single nucleotide variant (intron variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 1669094	NM_000717.5(CA4):c.75C>T (p.Tyr25=)	CA4	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1154893	NM_000717.5(CA4):c.87C>T (p.Ala29=)	CA4	Single nucleotide variant (synonymous variant +1 more)	CA4-related condition +1 more	GLikely benign
Select item 324231	NM_000717.5(CA4):c.415A>T (p.Met139Leu)	CA4 (M139L)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 324238	NM_000717.5(CA4):c.807T>C (p.Asn269=)	CA4	Single nucleotide variant (synonymous variant +1 more)	CA4-related condition +2 more	GLikely benign
Select item 514425	NM_000717.5(CA4):c.869C>T (p.Pro290Leu)	CA4 (P290L)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 445984	NM_000717.5(CA4):c.*59G>A	CA4	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity

ClinVar