MIR4685[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	See cases	GPathogenic
Select item 5278	NM_000195.5(HPS1):c.972dup (p.Met325fs)	HPS1, MIR4685 (M238fs +6 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1122839	NM_000195.5(HPS1):c.508-7T>C	HPS1, MIR4685	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 1994458	NM_000195.5(HPS1):c.508-9C>G	HPS1, MIR4685	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1536205	NM_000195.5(HPS1):c.508-10C>T	HPS1, MIR4685	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2841218	NM_000195.5(HPS1):c.508-19C>T	HPS1, MIR4685	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign

ClinVar