"PreventionGenetics, part of Exact Sciences"[submitter] AND "REPS1"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 638403	NM_001286611.2(REPS1):c.2056C>T (p.Pro686Ser)	REPS1 (P685S +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation 7 +2 more	GBenign/Likely benign
Select item 1166689	NM_001286611.2(REPS1):c.2037A>C (p.Glu679Asp)	REPS1 (E588D +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1588320	NM_001286611.2(REPS1):c.1934A>G (p.Gln645Arg)	REPS1 (Q554R +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1534271	NM_001286611.2(REPS1):c.1786-10_1786-7dup	REPS1	Duplication (intron variant)	not provided +1 more	GLikely benign
Select item 3042928	NM_001286611.2(REPS1):c.1720+10A>G	REPS1	Single nucleotide variant (intron variant)	REPS1-related disorder	GLikely benign
Select item 1634487	NM_001286611.2(REPS1):c.1620G>A (p.Ser540=)	REPS1	Single nucleotide variant (synonymous variant +1 more)	REPS1-related disorder +1 more	GLikely benign
Select item 3035693	NM_001286611.2(REPS1):c.1425C>T (p.Ser475=)	REPS1	Single nucleotide variant (synonymous variant)	REPS1-related disorder	GLikely benign
Select item 715000	NM_001286611.2(REPS1):c.483A>C (p.Ala161=)	REPS1	Single nucleotide variant (synonymous variant)	REPS1-related disorder +1 more	GBenign
Select item 734817	NM_001286611.2(REPS1):c.444G>A (p.Thr148=)	REPS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign