"NEI Ophthalmic Genomics Laboratory, National Institutes of Health"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 96207	NM_031935.3(HMCN1):c.4586A>G (p.Asn1529Ser)	HMCN1 (N1529S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 100598	NM_031935.3(HMCN1):c.5482A>G (p.Ile1828Val)	HMCN1 (I1828V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 100599	NM_031935.3(HMCN1):c.6917G>A (p.Arg2306Gln)	HMCN1 (R2306Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 100600	NM_031935.3(HMCN1):c.9397A>G (p.Ile3133Val)	HMCN1 (I3133V)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GBenign
Select item 100596	NM_031935.3(HMCN1):c.13313-4G>A	HMCN1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 100597	NM_031935.3(HMCN1):c.14158G>A (p.Ala4720Thr)	HMCN1 (A4720T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

ClinVar