ClinVar for MedGen (Select 855962) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2444901	NM_005612.5(REST):c.1367A>G (p.Asp456Gly)	REST (D456G)	Single nucleotide variant (missense variant)	Wilms tumor 6	GUncertain significance
Select item 2444899	NM_005612.5(REST):c.1583A>G (p.His528Arg)	REST (H528R)	Single nucleotide variant (missense variant)	Wilms tumor 6	GUncertain significance
Select item 2444874	NM_005612.5(REST):c.1701G>C (p.Glu567Asp)	REST (E567D)	Single nucleotide variant (missense variant)	Wilms tumor 6	GUncertain significance
Select item 2444866	NM_005612.5(REST):c.1882G>A (p.Val628Met)	REST (V628M)	Single nucleotide variant (missense variant)	Wilms tumor 6	GUncertain significance
Select item 1691514	NM_005612.5(REST):c.1881G>T (p.Gln627His)	REST (Q627H)	Single nucleotide variant (missense variant)	Wilms tumor 6	GUncertain significance
Select item 1586266	NM_005612.5(REST):c.898+15C>T	REST	Single nucleotide variant (intron variant)	Wilms tumor 6 +3 more	GBenign/Likely benign
Select item 1327569	NM_005612.5(REST):c.2989A>G (p.Met997Val)	REST (M997V)	Single nucleotide variant (missense variant)	Wilms tumor 6 +1 more	GUncertain significance
Select item 1025535	NM_005612.5(REST):c.1639G>T (p.Val547Leu)	REST (V547L)	Single nucleotide variant (missense variant)	Wilms tumor 6 +1 more	GUncertain significance
Select item 942685	NM_005612.5(REST):c.1344A>G (p.Ile448Met)	REST (I448M)	Single nucleotide variant (missense variant)	Wilms tumor 6 +1 more	GUncertain significance
Select item 222004	NM_005612.5(REST):c.965A>G (p.His322Arg)	REST (H322R)	Single nucleotide variant (missense variant)	Wilms tumor 6	Grisk factor
Select item 222003	NM_005612.5(REST):c.773_776del (p.Val258fs)	REST (V258fs)	Deletion (frameshift variant)	Wilms tumor 6	Grisk factor
Select item 222002	NM_005612.5(REST):c.831_832del (p.Cys278fs)	REST (C278fs)	Deletion (frameshift variant)	not provided	GPathogenic