ClinVar for MedGen (Select 1624392) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2429888	NM_005612.5(REST):c.2809A>T (p.Lys937Ter)	REST (K937*)	Single nucleotide variant (nonsense)	Fibromatosis, gingival, 5	GPathogenic
Select item 1586266	NM_005612.5(REST):c.898+15C>T	REST	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 1189032	NM_005612.5(REST):c.2771_2793dup (p.Glu932delinsLysThrTer)	REST	Duplication (nonsense)	Fibromatosis, gingival, 5	GPathogenic
Select item 1189031	NM_005612.5(REST):c.2449C>T (p.Arg817Ter)	REST (R817*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GUncertain significance
Select item 998295	NM_005612.5(REST):c.238G>A (p.Gly80Arg)	REST (G80R)	Single nucleotide variant (missense variant)	Fibromatosis, gingival, 5	GUncertain significance
Select item 944664	NM_005612.5(REST):c.3098A>G (p.His1033Arg)	REST (H1033R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 807670	NM_005612.5(REST):c.2770C>T (p.Gln924Ter)	REST (Q924*)	Single nucleotide variant (nonsense)	Fibromatosis, gingival, 5	GLikely pathogenic
Select item 427773	NM_005612.5(REST):c.2413del (p.Leu805fs)	REST (L805fs)	Deletion (frameshift variant)	Fibromatosis, gingival, 1	GLikely pathogenic
Select item 427772	NM_005612.5(REST):c.1310T>A (p.Leu437Ter)	REST (L437*)	Single nucleotide variant (nonsense)	Fibromatosis, gingival, 1	GLikely pathogenic
Select item 427771	NM_005612.5(REST):c.2865_2866del (p.Asn958fs)	REST (N958fs)	Deletion (frameshift variant)	Fibromatosis, gingival, 1 +1 more	GConflicting classifications of pathogenicity