C0796089[trait identifier] AND "New York Genome Center"[submitter] - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198005	NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	RELN, SLC26A5-AS1 (K3100del)	Microsatellite (inframe_deletion)	RELN-related condition +6 more	GConflicting classifications of pathogenicity
Select item 943051	NM_005045.4(RELN):c.8051G>A (p.Arg2684His)	RELN (R2684H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 358386	NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)	RELN (V2669I)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +3 more	GConflicting classifications of pathogenicity
Select item 859080	NM_005045.4(RELN):c.7963A>G (p.Ile2655Val)	RELN (I2655V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 285255	NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp)	RELN (G2153D)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1047797	NM_005045.4(RELN):c.6440A>C (p.Lys2147Thr)	RELN (K2147T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 197440	NM_005045.4(RELN):c.6278A>C (p.His2093Pro)	RELN (H2093P)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 852456	NM_005045.4(RELN):c.6146C>T (p.Ala2049Val)	RELN (A2049V)	Single nucleotide variant (missense variant)	Autism +3 more	GConflicting classifications of pathogenicity
Select item 196958	NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys)	RELN (R1782C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 977416	NM_005045.4(RELN):c.5210T>C (p.Ile1737Thr)	RELN (I1737T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 449361	NM_005045.4(RELN):c.4495G>C (p.Asp1499His)	RELN (D1499H)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 358408	NM_005045.4(RELN):c.3086T>C (p.Ile1029Thr)	RELN (I1029T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 851546	NM_005045.4(RELN):c.2722C>A (p.Leu908Ile)	RELN (L908I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 1384756	NM_005045.4(RELN):c.2466A>C (p.Arg822Ser)	RELN (R822S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 475951	NM_005045.4(RELN):c.2313G>T (p.Gln771His)	RELN (Q771H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 208482	NM_005045.4(RELN):c.2168A>G (p.Tyr723Cys)	RELN (Y723C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 95211	NM_005045.4(RELN):c.139G>A (p.Glu47Lys)	RELN (E47K)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity