C0008373[trait identifier] AND "Phenosystems SA"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1322001	NM_000130.5(F5):c.5599+261A>G	F5	Single nucleotide variant (intron variant)	Cholesteatoma	GUncertain significance
Select item 1322002	NM_000130.5(F5):c.5509C>A (p.Gln1837Lys)	F5 (Q1837K)	Single nucleotide variant (missense variant)	Cholesteatoma	GUncertain significance
Select item 1322003	NM_001122770.3(ZBTB37):c.*17408A>C	ZBTB37	Single nucleotide variant (3 prime UTR variant)	Cholesteatoma	GUncertain significance
Select item 1322004	NM_001122770.3(ZBTB37):c.*17411G>A	ZBTB37	Single nucleotide variant (3 prime UTR variant)	Cholesteatoma	GLikely benign
Select item 1322005	NM_001366446.1(RABGAP1L):c.-34+24490G>A	RABGAP1L	Single nucleotide variant (intron variant)	Cholesteatoma	GLikely pathogenic
Select item 1322006	NM_001994.3(F13B):c.1505C>G (p.Ser502Cys)	F13B (S502C)	Single nucleotide variant (missense variant)	Cholesteatoma	GPathogenic

ClinVar