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

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 416250	NM_024589.3(ROGDI):c.822+8C>T	ROGDI	Single nucleotide variant (intron variant)	ROGDI-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 530801	NM_024589.3(ROGDI):c.810G>A (p.Gln270=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder +2 more	GLikely benign
Select item 241507	NM_024589.3(ROGDI):c.783C>T (p.Phe261=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 697126	NM_024589.3(ROGDI):c.747C>T (p.Cys249=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder +1 more	GLikely benign
Select item 319399	NM_024589.3(ROGDI):c.713G>A (p.Arg238His)	ROGDI (R238H)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome +2 more	GBenign/Likely benign
Select item 261744	NM_024589.3(ROGDI):c.646-5C>T	ROGDI	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 319401	NM_024589.3(ROGDI):c.625C>G (p.Leu209Val)	ROGDI (L209V)	Single nucleotide variant (missense variant +1 more)	Amelocerebrohypohidrotic syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1099612	NM_024589.3(ROGDI):c.558C>T (p.Ser186=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder +1 more	GLikely benign
Select item 319404	NM_024589.3(ROGDI):c.522C>T (p.Ser174=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +2 more	GBenign/Likely benign
Select item 416252	NM_024589.3(ROGDI):c.489C>T (p.Pro163=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder +2 more	GBenign/Likely benign
Select item 261743	NM_024589.3(ROGDI):c.433-15C>T	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome +1 more	GBenign/Likely benign
Select item 461611	NM_024589.3(ROGDI):c.417C>T (p.Gly139=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 130160	NM_024589.3(ROGDI):c.414G>A (p.Thr138=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 261742	NM_024589.3(ROGDI):c.393C>G (p.Asp131Glu)	ROGDI (D131E)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 461610	NM_024589.3(ROGDI):c.348C>T (p.Ala116=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	Amelocerebrohypohidrotic syndrome +1 more	GLikely benign
Select item 3035792	NM_024589.3(ROGDI):c.318G>A (p.Lys106=)	ROGDI	Single nucleotide variant (synonymous variant +1 more)	ROGDI-related disorder	GLikely benign
Select item 241506	NM_024589.3(ROGDI):c.243C>T (p.Ala81=)	ROGDI	Single nucleotide variant (synonymous variant)	ROGDI-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 461606	NM_024589.3(ROGDI):c.117+9C>G	ROGDI	Single nucleotide variant (intron variant)	Amelocerebrohypohidrotic syndrome +1 more	GLikely benign
Select item 3047846	NM_024589.3(ROGDI):c.46-27G>A	ROGDI	Single nucleotide variant (intron variant)	ROGDI-related disorder	GLikely benign
Select item 3045869	NM_024589.3(ROGDI):c.46-33_46-31dup	ROGDI	Duplication (intron variant)	ROGDI-related disorder	GLikely benign

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Items: 20