Related gene-specific medical variations for Gene (Select 27151) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362554	NM_015692.5(CPAMD8):c.4396del (p.Gln1466fs)	CPAMD8 (Q1466fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 3065437	NM_015692.5(CPAMD8):c.1759-1G>A	CPAMD8	Single nucleotide variant (splice acceptor variant)	Anterior segment dysgenesis 8	GUncertain significance
Select item 3065142	NM_015692.5(CPAMD8):c.4710T>A (p.Asn1570Lys)	CPAMD8 (N1570K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 8	GUncertain significance
Select item 2971767	NM_015692.5(CPAMD8):c.5004C>T (p.Ala1668=)	CPAMD8, LOC130063904	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2442072	NM_015692.5(CPAMD8):c.-55G>A	CPAMD8	Single nucleotide variant (5 prime UTR variant +1 more)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 2440522	NM_015692.5(CPAMD8):c.1994C>T (p.Thr665Met)	CPAMD8 (T665M)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis 8	GUncertain significance
Select item 1260417	NM_015692.5(CPAMD8):c.4989C>G (p.Thr1663=)	CPAMD8, LOC130063904	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 932293	NM_015692.5(CPAMD8):c.3008G>T (p.Gly1003Val)	CPAMD8 (G1003V)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis	GLikely pathogenic

ClinVar