C0796089[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

Search results

Items: 78

	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)	SLC26A5-AS1, RELN (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)	not provided +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)	not provided +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)	Norman-Roberts syndrome +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)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 167577	NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn)	SLC26A5-AS1, RELN (D2982N)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 1657765	NM_005045.4(RELN):c.8844-20T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Epilepsy, familial temporal lobe, 1 +2 more	GBenign/Likely benign
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 167578	NM_005045.4(RELN):c.8811G>A (p.Ala2937=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not specified +4 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)	not provided +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)	Norman-Roberts syndrome +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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130143	NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr)	RELN (A2696T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 358386	NM_005045.4(RELN):c.8005G>A (p.Val2669Ile)	RELN (V2669I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 858657	NM_005045.4(RELN):c.7916G>A (p.Arg2639His)	RELN (R2639H)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +2 more	GConflicting classifications of pathogenicity
Select item 547863	NM_005045.4(RELN):c.7757C>T (p.Thr2586Ile)	RELN (T2586I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GUncertain significance
Select item 287125	NM_005045.4(RELN):c.7634C>T (p.Ala2545Val)	RELN (A2545V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +4 more	GConflicting classifications of pathogenicity
Select item 542566	NM_005045.4(RELN):c.7423G>A (p.Val2475Ile)	RELN (V2475I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 1097359	NM_005045.4(RELN):c.7182G>A (p.Ala2394=)	RELN	Single nucleotide variant (synonymous variant)	Epilepsy, familial temporal lobe, 1 +2 more	GLikely benign
Select item 130139	NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr)	RELN (A2371T)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 651420	NM_005045.4(RELN):c.6976G>A (p.Asp2326Asn)	RELN (D2326N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167579	NM_005045.4(RELN):c.6925G>A (p.Asp2309Asn)	RELN (D2309N)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GUncertain significance
Select item 130135	NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser)	RELN (R2242S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1289838	NM_005045.4(RELN):c.6672-16C>T	RELN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 95226	NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln)	RELN (R2216Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197485	NM_005045.4(RELN):c.6553A>T (p.Met2185Leu)	RELN (M2185L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GLikely benign
Select item 197466	NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys)	RELN (E2174K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 130133	NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser)	RELN (G2115S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 167580	NM_005045.4(RELN):c.6193G>A (p.Val2065Ile)	RELN (V2065I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95225	NM_005045.4(RELN):c.6084C>T (p.Gly2028=)	RELN	Single nucleotide variant (synonymous variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 281632	NM_005045.4(RELN):c.5822T>C (p.Val1941Ala)	RELN (V1941A)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 95223	NM_005045.4(RELN):c.5711C>T (p.Thr1904Met)	RELN (T1904M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 497204	NM_005045.4(RELN):c.5668A>G (p.Ile1890Val)	RELN (I1890V)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GConflicting classifications of pathogenicity
Select item 1284273	NM_005045.4(RELN):c.5530-18A>G	RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +3 more	GLikely benign
Select item 475972	NM_005045.4(RELN):c.5468C>A (p.Ala1823Glu)	RELN (A1823E)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +2 more	GUncertain significance
Select item 1025539	NM_005045.4(RELN):c.5377T>G (p.Tyr1793Asp)	RELN (Y1793D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +3 more	GUncertain significance
Select item 130128	NM_005045.4(RELN):c.5351+3A>G	RELN	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 130127	NM_005045.4(RELN):c.5284G>A (p.Val1762Ile)	RELN (V1762I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +4 more	GBenign/Likely benign
Select item 1040242	NM_005045.4(RELN):c.5246A>G (p.Asn1749Ser)	RELN (N1749S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 475970	NM_005045.4(RELN):c.5225G>A (p.Arg1742Gln)	RELN (R1742Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1206020	NM_005045.4(RELN):c.5211-7del	RELN	Deletion (intron variant)	Epilepsy, familial temporal lobe, 1 +3 more	GBenign
Select item 130124	NM_005045.4(RELN):c.5095G>A (p.Glu1699Lys)	RELN (E1699K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130123	NM_005045.4(RELN):c.4907A>G (p.Asp1636Gly)	RELN (D1636G)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 358400	NM_005045.4(RELN):c.4748-11T>C	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +3 more	GBenign/Likely benign
Select item 449361	NM_005045.4(RELN):c.4495G>C (p.Asp1499His)	RELN (D1499H)	Single nucleotide variant (missense variant)	Autism +4 more	GConflicting classifications of pathogenicity
Select item 212038	NM_005045.4(RELN):c.4484C>T (p.Thr1495Met)	RELN (T1495M)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GUncertain significance
Select item 95220	NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser)	RELN (N1446S)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +3 more	GConflicting classifications of pathogenicity
Select item 542594	NM_005045.4(RELN):c.4257T>C (p.His1419=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GLikely benign
Select item 436529	NM_005045.4(RELN):c.3667A>G (p.Lys1223Glu)	RELN (K1223E)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 542565	NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu)	RELN (P1066L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1571438	NM_005045.4(RELN):c.3147-15C>T	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 195757	NM_005045.4(RELN):c.3123C>T (p.Gly1041=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +4 more	GBenign/Likely benign
Select item 195682	NM_005045.4(RELN):c.2954C>G (p.Ala985Gly)	RELN (A985G)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95216	NM_005045.4(RELN):c.2446C>T (p.Leu816Phe)	RELN (L816F)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GConflicting classifications of pathogenicity
Select item 284590	NM_005045.4(RELN):c.2260C>T (p.Arg754Trp)	RELN (R754W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 834878	NM_005045.4(RELN):c.2252A>C (p.Lys751Thr)	RELN (K751T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 194853	NM_005045.4(RELN):c.2125A>G (p.Met709Val)	RELN (M709V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 208481	NM_005045.4(RELN):c.2015C>T (p.Pro672Leu)	RELN (P672L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 597601	NM_005045.4(RELN):c.1913C>T (p.Pro638Leu)	RELN (P638L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 194518	NM_005045.4(RELN):c.1817C>T (p.Thr606Ile)	RELN (T606I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 95213	NM_005045.4(RELN):c.1799C>T (p.Ser600Phe)	RELN (S600F)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +4 more	GBenign/Likely benign
Select item 1054930	NM_005045.4(RELN):c.1669T>G (p.Phe557Val)	RELN (F557V)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +3 more	GConflicting classifications of pathogenicity
Select item 854349	NM_005045.4(RELN):c.1649G>T (p.Arg550Met)	RELN (R550M)	Single nucleotide variant (missense variant)	Epilepsy, familial temporal lobe, 1 +2 more	GConflicting classifications of pathogenicity
Select item 212032	NM_005045.4(RELN):c.1483A>G (p.Ile495Val)	RELN (I495V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 965291	NM_005045.4(RELN):c.1480A>G (p.Ile494Val)	RELN (I494V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 194219	NM_005045.4(RELN):c.1442-8T>C	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +4 more	GBenign/Likely benign
Select item 542574	NM_005045.4(RELN):c.1336G>C (p.Glu446Gln)	LOC126860131, RELN (E446Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 235530	NM_005045.4(RELN):c.1231C>A (p.Leu411Ile)	RELN (L411I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +5 more	GConflicting classifications of pathogenicity
Select item 212029	NM_005045.4(RELN):c.1108G>C (p.Gly370Arg)	RELN (G370R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +4 more	GConflicting classifications of pathogenicity
Select item 287147	NM_005045.4(RELN):c.1001G>A (p.Arg334His)	RELN (R334H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +5 more	GConflicting classifications of pathogenicity
Select item 198526	NM_005045.4(RELN):c.697G>A (p.Ala233Thr)	RELN (A233T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1026220	NM_005045.4(RELN):c.491G>A (p.Arg164Gln)	RELN (R164Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 130121	NM_005045.4(RELN):c.416C>G (p.Thr139Ser)	RELN (T139S)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
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
Select item 542588	NM_005045.4(RELN):c.59C>T (p.Thr20Met)	RELN (T20M)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 78