"PreventionGenetics, part of Exact Sciences"[submitter] AND "IMPG2"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 709664	NM_016247.4(IMPG2):c.3600A>G (p.Arg1200=)	IMPG2	Single nucleotide variant (synonymous variant)	IMPG2-related disorder +1 more	GLikely benign
Select item 3027554	NM_016247.4(IMPG2):c.2517G>A (p.Ser839=)	IMPG2	Single nucleotide variant (synonymous variant)	IMPG2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1666774	NM_016247.4(IMPG2):c.2094G>A (p.Ala698=)	IMPG2	Single nucleotide variant (synonymous variant)	IMPG2-related disorder +1 more	GLikely benign
Select item 1139530	NM_016247.4(IMPG2):c.1705T>C (p.Leu569=)	IMPG2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 342350	NM_016247.4(IMPG2):c.1382C>G (p.Thr461Arg)	IMPG2 (T461R)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 342353	NM_016247.4(IMPG2):c.1169G>A (p.Arg390His)	IMPG2 (R390H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 860389	NM_016247.4(IMPG2):c.1154-3C>T	IMPG2	Single nucleotide variant (intron variant)	IMPG2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 850725	NM_016247.4(IMPG2):c.1151A>G (p.Asn384Ser)	IMPG2 (N384S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1105459	NM_016247.4(IMPG2):c.618C>T (p.Asp206=)	IMPG2	Single nucleotide variant (synonymous variant)	IMPG2-related disorder +1 more	GLikely benign