Related gene-specific medical variations for Gene (Select 5978) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370397	REST, 2-BP DEL, 1901AG	REST	Deletion	Fibromatosis, gingival, 5	GPathogenic
Select item 3359380	NM_005612.5(REST):c.3063C>A (p.Asp1021Glu)	REST (D1021E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3246739	NC_000004.11:g.(?_57795997)_(57798318_?)dup	REST	Duplication	not provided	GUncertain significance
Select item 3246738	NC_000004.11:g.(?_57785933)_(57793760_?)del	REST	Deletion	not provided	GUncertain significance
Select item 2429888	NM_005612.5(REST):c.2809A>T (p.Lys937Ter)	REST (K937*)	Single nucleotide variant (nonsense)	Fibromatosis, gingival, 5	GPathogenic
Select item 685448	GRCh37/hg19 4q12(chr4:57708847-57780602)x1	REST	Copy number loss	not provided	GUncertain significance
Select item 559567	NM_005612.5(REST):c.2464del (p.Glu822fs)	REST (E822fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 221804	GRCh37/hg19 4q12(chr4:57759221-57795328)x3	REST	Copy number gain	Premature ovarian failure	GUncertain significance

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