"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC26A5-AS1"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 574190	NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter)	RELN, SLC26A5-AS1 (R3453* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 358375	NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln)	RELN, SLC26A5-AS1 (R3441Q +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 198354	NM_005045.4(RELN):c.10310T>C (p.Met3437Thr)	RELN, SLC26A5-AS1 (M3437T +1 more)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 624297	NM_005045.4(RELN):c.10025C>T (p.Thr3342Met)	RELN, SLC26A5-AS1 (T3342M)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +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)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 358381	NM_005045.4(RELN):c.9524A>C (p.His3175Pro)	LOC126860130, RELN +1 more (H3175P)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 167576	NM_005045.4(RELN):c.9329G>A (p.Arg3110Gln)	RELN, SLC26A5-AS1 (R3110Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167577	NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)	RELN, SLC26A5-AS1 (D2982N)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 1657765	NM_005045.4(RELN):c.8844-20T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GBenign/Likely benign
Select item 197969	NM_005045.4(RELN):c.8843+3A>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +4 more	GConflicting classifications of pathogenicity
Select item 167578	NM_005045.4(RELN):c.8811G>A (p.Ala2937=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 862295	NM_005045.4(RELN):c.8795C>A (p.Ser2932Tyr)	RELN, SLC26A5-AS1 (S2932Y)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 836720	NM_005045.4(RELN):c.8624C>T (p.Pro2875Leu)	RELN, SLC26A5-AS1 (P2875L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 840125	NM_005045.4(RELN):c.8213G>A (p.Arg2738Gln)	RELN, SLC26A5-AS1 (R2738Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 498237	NM_005045.4(RELN):c.8212C>T (p.Arg2738Trp)	RELN, SLC26A5-AS1 (R2738W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity