"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HMCN1"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294191	NM_031935.3(HMCN1):c.7818C>T (p.Thr2606=)	HMCN1	Single nucleotide variant (synonymous variant)	Age related macular degeneration 1 +1 more	GBenign/Likely benign
Select item 790495	NM_031935.3(HMCN1):c.10618G>A (p.Val3540Ile)	HMCN1 (V3540I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GLikely benign
Select item 294255	NM_031935.3(HMCN1):c.12941T>C (p.Val4314Ala)	HMCN1 (V4314A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1550843	NM_031935.3(HMCN1):c.14266+19_14266+22del	HMCN1	Deletion (intron variant)	Age related macular degeneration 1 +1 more	GLikely benign
Select item 875905	NM_031935.3(HMCN1):c.14738C>A (p.Thr4913Asn)	HMCN1 (T4913N)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +1 more	GConflicting classifications of pathogenicity
Select item 199238	NM_031935.3(HMCN1):c.15010A>T (p.Thr5004Ser)	HMCN1, LOC129388665 (T5004S)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign
Select item 199239	NM_031935.3(HMCN1):c.15011C>T (p.Thr5004Ile)	HMCN1, LOC129388665 (T5004I)	Single nucleotide variant (missense variant)	Age related macular degeneration 1 +2 more	GBenign/Likely benign

ClinVar