"Genetic Services Laboratory, University of Chicago"[submitter] AND "S - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 433104	NM_005045.4(RELN):c.10093G>A (p.Val3365Ile)	RELN, SLC26A5-AS1 (V3365I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95209	NM_005045.4(RELN):c.10074A>G (p.Ala3358=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign
Select item 130147	NM_005045.4(RELN):c.9903C>T (p.Tyr3301=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign
Select item 95240	NM_005045.4(RELN):c.9825C>T (p.Ser3275=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	RELN-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 130146	NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser)	LOC126860130, RELN +1 more (G3244S)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 130145	NM_005045.4(RELN):c.9714C>T (p.His3238=)	SLC26A5-AS1, LOC126860130 +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 212050	NM_005045.4(RELN):c.9708C>T (p.Ser3236=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 212049	NM_005045.4(RELN):c.9531C>T (p.Ala3177=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 475994	NM_005045.4(RELN):c.9406C>G (p.Leu3136Val)	RELN, SLC26A5-AS1 (L3136V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 198005	NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	RELN, SLC26A5-AS1 (K3100del)	Microsatellite (inframe_deletion)	Norman-Roberts syndrome +6 more	GConflicting classifications of pathogenicity
Select item 95234	NM_005045.4(RELN):c.8843+7G>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 197969	NM_005045.4(RELN):c.8843+3A>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 130144	NM_005045.4(RELN):c.8798C>T (p.Thr2933Ile)	RELN, SLC26A5-AS1 (T2933I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 197971	NM_005045.4(RELN):c.8703C>A (p.Ile2901=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 436520	NM_005045.4(RELN):c.8667+9_8667+13del	RELN, SLC26A5-AS1	Deletion (intron variant)	RELN-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 95233	NM_005045.4(RELN):c.8508C>T (p.Phe2836=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 95231	NM_005045.4(RELN):c.8136A>G (p.Leu2712=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GBenign
Select item 436525	NM_005045.4(RELN):c.8121G>A (p.Val2707=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 197926	NM_005045.4(RELN):c.8120-9T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign