ClinVar for MedGen (Select 1794135) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1709818	NM_001563.4(IMPG1):c.1079G>A (p.Ser360Asn)	IMPG1 (S282N +1 more)	Single nucleotide variant (missense variant)	Benign concentric annular macular dystrophy	GUncertain significance
Select item 1240018	NM_001563.4(IMPG1):c.1824+1G>A	IMPG1	Single nucleotide variant (splice donor variant)	Benign concentric annular macular dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 1165049	NM_001563.4(IMPG1):c.1552C>G (p.His518Asp)	IMPG1 (H440D +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 1063374	NM_001563.4(IMPG1):c.1876C>T (p.Leu626Phe)	IMPG1 (L548F +1 more)	Single nucleotide variant (missense variant)	Benign concentric annular macular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1048134	NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T]	ABCA4 (N1868I +1 more)	Single nucleotide variant (intron variant +1 more)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 1043806	NM_001563.4(IMPG1):c.1838T>C (p.Leu613Pro)	IMPG1 (L613P +1 more)	Single nucleotide variant (missense variant)	Benign concentric annular macular dystrophy +1 more	GUncertain significance
Select item 1008228	NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro)	IMPG1 (L501P +1 more)	Single nucleotide variant (missense variant)	Benign concentric annular macular dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 424754	NM_015506.2(MMACHC):c.[271dupA];[482G>A]			Cobalamin C disease +1 more	GLikely pathogenic
Select item 218923	NM_000554.6(CRX):c.661del (p.Tyr221fs)	CRX (Y221fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +2 more	GPathogenic
Select item 218922	NM_000554.6(CRX):c.660del (p.Tyr221fs)	CRX (Y221fs)	Deletion (frameshift variant)	Cone-rod dystrophy 2 +2 more	GConflicting classifications of pathogenicity
Select item 218921	NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	CRX (S150*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 2 +3 more	GPathogenic/Likely pathogenic
Select item 99114	NM_000350.3(ABCA4):c.2041C>T (p.Arg681Ter)	ABCA4 (R681*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 92870	NM_000350.3(ABCA4):c.5461-10T>C	ABCA4	Single nucleotide variant (intron variant)	not provided +7 more	GPathogenic/Likely pathogenic