ClinVar for MedGen (Select 934589) - ClinVar - NCBI

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Items: 18

	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 3250462	NM_015692.5(CPAMD8):c.2932C>T (p.Arg978Ter)	CPAMD8 (R978*)	Single nucleotide variant (nonsense)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 3235245	NM_015692.5(CPAMD8):c.534G>A (p.Trp178Ter)	CPAMD8 (W178*)	Single nucleotide variant (nonsense +1 more)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 3235244	NM_015692.5(CPAMD8):c.4825C>T (p.Arg1609Ter)	CPAMD8 (R1609*)	Single nucleotide variant (nonsense)	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 2692330	NM_015692.5(CPAMD8):c.2066T>C (p.Phe689Ser)	CPAMD8 (F689S)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis 8	GUncertain significance
Select item 2628068	NM_001123385.2(BCOR):c.716C>T (p.Thr239Ile)	BCOR, LOC126863239 (T239I)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 8	GUncertain significance
Select item 2580881	NM_015692.5(CPAMD8):c.4028-1030T>C	CPAMD8	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 8	GUncertain significance
Select item 2574039	NM_015692.5(CPAMD8):c.1758+1_1758+4del	CPAMD8	Deletion (splice donor variant)	Anterior segment dysgenesis 8 +1 more	GLikely pathogenic
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 1333413	NM_015692.5(CPAMD8):c.2070+1G>C	CPAMD8	Single nucleotide variant (non-coding transcript variant +1 more)	Anterior segment dysgenesis 8	GLikely pathogenic
Select item 1027997	NM_015692.5(CPAMD8):c.173G>T (p.Arg58Met)	CPAMD8 (R58M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1027996	NM_015692.5(CPAMD8):c.1916A>G (p.Gln639Arg)	CPAMD8 (Q639R)	Single nucleotide variant (missense variant +1 more)	Anterior segment dysgenesis 8	GUncertain significance
Select item 375311	NM_015692.5(CPAMD8):c.4408-1G>A	CPAMD8	Single nucleotide variant (splice acceptor variant)	Anterior segment dysgenesis +1 more	GPathogenic
Select item 375310	NM_015692.5(CPAMD8):c.2211dup (p.Arg738fs)	CPAMD8 (R738fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 375309	NM_015692.5(CPAMD8):c.4210T>C (p.Ser1404Pro)	CPAMD8 (S1404P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 8	GPathogenic