"Ambry Genetics"[submitter] AND "SLC26A5-AS1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 838111	NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln)	RELN, SLC26A5-AS1 (R3453Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 432578	NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys)	RELN, SLC26A5-AS1 (R3452K +1 more)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GUncertain significance
Select item 2308677	NM_005045.4(RELN):c.10151A>G (p.Gln3384Arg)	RELN, SLC26A5-AS1 (Q3384R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1061134	NM_005045.4(RELN):c.10060G>A (p.Ala3354Thr)	RELN, SLC26A5-AS1 (A3354T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GLikely benign
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 835843	NM_005045.4(RELN):c.9832G>C (p.Val3278Leu)	RELN, SLC26A5-AS1 (V3278L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 568369	NM_005045.4(RELN):c.9753G>C (p.Glu3251Asp)	LOC126860130, RELN +1 more (E3251D)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 958771	NM_005045.4(RELN):c.9730G>C (p.Gly3244Arg)	SLC26A5-AS1, LOC126860130 +1 more (G3244R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 844081	NM_005045.4(RELN):c.9643A>G (p.Thr3215Ala)	LOC126860130, RELN +1 more (T3215A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2541161	NM_005045.4(RELN):c.9628C>G (p.Gln3210Glu)	LOC126860130, RELN +1 more (Q3210E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 580355	NM_005045.4(RELN):c.9478C>G (p.Leu3160Val)	LOC126860130, RELN +1 more (L3160V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2231475	NM_005045.4(RELN):c.9328C>G (p.Arg3110Gly)	RELN, SLC26A5-AS1 (R3110G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 198005	NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	RELN, SLC26A5-AS1 (K3100del)	Microsatellite (inframe_deletion)	Familial temporal lobe epilepsy 7 +6 more	GConflicting classifications of pathogenicity
Select item 1285576	NM_005045.4(RELN):c.9281A>G (p.Tyr3094Cys)	RELN, SLC26A5-AS1 (Y3094C)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 908255	NM_005045.4(RELN):c.9095T>C (p.Val3032Ala)	RELN, SLC26A5-AS1 (V3032A)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 2338439	NM_005045.4(RELN):c.9087T>A (p.Asn3029Lys)	RELN, SLC26A5-AS1 (N3029K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231644	NM_005045.4(RELN):c.9075T>G (p.Phe3025Leu)	RELN, SLC26A5-AS1 (F3025L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1434834	NM_005045.4(RELN):c.9016A>C (p.Ile3006Leu)	RELN, SLC26A5-AS1 (I3006L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 843400	NM_005045.4(RELN):c.8809G>A (p.Ala2937Thr)	RELN, SLC26A5-AS1 (A2937T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 2615908	NM_005045.4(RELN):c.8725T>G (p.Leu2909Val)	RELN, SLC26A5-AS1 (L2909V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2542899	NM_005045.4(RELN):c.8561C>T (p.Pro2854Leu)	RELN, SLC26A5-AS1 (P2854L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286605	NM_005045.4(RELN):c.8481A>C (p.Leu2827Phe)	RELN, SLC26A5-AS1 (L2827F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 942671	NM_005045.4(RELN):c.8389G>A (p.Asp2797Asn)	RELN, SLC26A5-AS1 (D2797N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 2317410	NM_005045.4(RELN):c.8308G>T (p.Ala2770Ser)	RELN, SLC26A5-AS1 (A2770S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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
Select item 2417884	NM_005045.4(RELN):c.8181T>A (p.Asp2727Glu)	RELN, SLC26A5-AS1 (D2727E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 572620	NM_005045.4(RELN):c.8181T>G (p.Asp2727Glu)	SLC26A5-AS1, RELN (D2727E)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 28