"Eurofins Ntd Llc (ga)"[submitter] AND "RELN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 198353	NM_005045.4(RELN):c.10349A>G (p.Asn3450Ser)	RELN, SLC26A5-AS1 (N3450S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 284023	NM_005045.4(RELN):c.10160G>A (p.Arg3387Lys)	RELN, SLC26A5-AS1 (R3387K)	Single nucleotide variant (missense variant)	RELN-related disorder +1 more	GUncertain significance
Select item 596127	NM_005045.4(RELN):c.10120A>G (p.Ile3374Val)	SLC26A5-AS1, RELN (I3374V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 167574	NM_005045.4(RELN):c.10016T>C (p.Met3339Thr)	RELN, SLC26A5-AS1 (M3339T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286276	NM_005045.4(RELN):c.9837C>G (p.Thr3279=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 95240	NM_005045.4(RELN):c.9825C>T (p.Ser3275=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 95239	NM_005045.4(RELN):c.9763+3C>G	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 290106	NM_005045.4(RELN):c.9750C>T (p.Asp3250=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 497424	NM_005045.4(RELN):c.9725C>T (p.Thr3242Met)	LOC126860130, RELN +1 more (T3242M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 167575	NM_005045.4(RELN):c.9690T>G (p.Ala3230=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 498861	NM_005045.4(RELN):c.9673G>A (p.Val3225Met)	LOC126860130, RELN +1 more (V3225M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 598368	NM_005045.4(RELN):c.9620G>A (p.Arg3207His)	LOC126860130, RELN +1 more (R3207H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 498490	NM_005045.4(RELN):c.9605+6T>A	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	not provided +2 more	GUncertain significance
Select item 198012	NM_005045.4(RELN):c.9414C>T (p.Ser3138=)	SLC26A5-AS1, RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 95238	NM_005045.4(RELN):c.9370-13_9370-8del	RELN, SLC26A5-AS1	Deletion (intron variant)	not provided +3 more	GBenign
Select item 95237	NM_005045.4(RELN):c.9370-10T>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 95236	NM_005045.4(RELN):c.9340A>G (p.Ile3114Val)	RELN, SLC26A5-AS1 (I3114V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 95235	NM_005045.4(RELN):c.9339T>C (p.Ile3113=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
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 198004	NM_005045.4(RELN):c.9321C>T (p.Leu3107=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign/Likely benign
Select item 198005	NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del)	RELN, SLC26A5-AS1 (K3100del)	Microsatellite (inframe_deletion)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 198006	NM_005045.4(RELN):c.9276C>T (p.His3092=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 288993	NM_005045.4(RELN):c.9086A>G (p.Asn3029Ser)	RELN, SLC26A5-AS1 (N3029S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 197982	NM_005045.4(RELN):c.8863C>T (p.Arg2955Cys)	RELN, SLC26A5-AS1 (R2955C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287008	NM_005045.4(RELN):c.8843+9A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 95234	NM_005045.4(RELN):c.8843+7G>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +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 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 197970	NM_005045.4(RELN):c.8809G>T (p.Ala2937Ser)	RELN, SLC26A5-AS1 (A2937S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197971	NM_005045.4(RELN):c.8703C>A (p.Ile2901=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 197972	NM_005045.4(RELN):c.8668-8A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 594573	NM_005045.4(RELN):c.8634A>G (p.Ser2878=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 197952	NM_005045.4(RELN):c.8593G>A (p.Asp2865Asn)	RELN, SLC26A5-AS1 (D2865N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95233	NM_005045.4(RELN):c.8508C>T (p.Phe2836=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 197937	NM_005045.4(RELN):c.8489+4_8489+7del	SLC26A5-AS1, RELN	Microsatellite (splice donor variant)	not provided	GUncertain significance
Select item 288532	NM_005045.4(RELN):c.8347G>A (p.Gly2783Ser)	RELN, SLC26A5-AS1 (G2783S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
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 95231	NM_005045.4(RELN):c.8136A>G (p.Leu2712=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 197926	NM_005045.4(RELN):c.8120-9T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 95230	NM_005045.4(RELN):c.8046T>C (p.His2682=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 598451	NM_005045.4(RELN):c.7787T>C (p.Leu2596Ser)	RELN (L2596S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 500191	NM_005045.4(RELN):c.7719G>C (p.Glu2573Asp)	RELN (E2573D)	Single nucleotide variant (missense variant)	not provided	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 501409	NM_005045.4(RELN):c.7590C>A (p.Asn2530Lys)	RELN (N2530K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 95229	NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser)	RELN (G2480S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 197568	NM_005045.4(RELN):c.7431C>T (p.Ile2477=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 436526	NM_005045.4(RELN):c.7160C>T (p.Ser2387Leu)	RELN (S2387L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 130140	NM_005045.4(RELN):c.7114G>A (p.Val2372Met)	RELN (V2372M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 95228	NM_005045.4(RELN):c.7110T>C (p.Val2370=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GBenign
Select item 197525	NM_005045.4(RELN):c.6969G>A (p.Leu2323=)	RELN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 212044	NM_005045.4(RELN):c.6939T>C (p.Ile2313=)	RELN	Single nucleotide variant (synonymous variant)	not specified +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 95227	NM_005045.4(RELN):c.6702T>C (p.Cys2234=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
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 197465	NM_005045.4(RELN):c.6519C>T (p.Phe2173=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 285255	NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp)	RELN (G2153D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 197440	NM_005045.4(RELN):c.6278A>C (p.His2093Pro)	RELN (H2093P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 197438	NM_005045.4(RELN):c.6163C>T (p.Leu2055=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 197439	NM_005045.4(RELN):c.6141C>T (p.Phe2047=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 498311	NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr)	RELN (A2036T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 287835	NM_005045.4(RELN):c.6089C>T (p.Ser2030Leu)	RELN (S2030L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 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 197418	NM_005045.4(RELN):c.6072+4C>G	RELN	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GUncertain significance
Select item 498860	NM_005045.4(RELN):c.6027C>T (p.Thr2009=)	RELN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 287985	NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn)	RELN (K1987N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 167581	NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser)	RELN (G1975S)	Single nucleotide variant (missense variant)	not provided +3 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 95222	NM_005045.4(RELN):c.5643G>A (p.Leu1881=)	RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +2 more	GConflicting classifications of pathogenicity
Select item 167582	NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile)	RELN (T1873I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 499745	NM_005045.4(RELN):c.5465G>C (p.Gly1822Ala)	RELN (G1822A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 281580	NM_005045.4(RELN):c.5418C>T (p.Asp1806=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196983	NM_005045.4(RELN):c.5360G>C (p.Arg1787Pro)	RELN (R1787P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196957	NM_005045.4(RELN):c.5350G>A (p.Val1784Met)	RELN (V1784M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 196958	NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys)	RELN (R1782C)	Single nucleotide variant (missense variant)	See cases +3 more	GConflicting classifications of pathogenicity
Select item 196956	NM_005045.4(RELN):c.5338G>A (p.Ala1780Thr)	RELN (A1780T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 167583	NM_005045.4(RELN):c.5274G>T (p.Ala1758=)	RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 281452	NM_005045.4(RELN):c.5211-7dup	RELN	Duplication (intron variant)	Lissencephaly, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 282752	NM_005045.4(RELN):c.5211-9_5211-7del	RELN	Deletion (intron variant)	not specified	GBenign
Select item 196901	NM_005045.4(RELN):c.5200C>G (p.Leu1734Val)	RELN (L1734V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 130126	NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu)	RELN (S1719L)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +3 more	GConflicting classifications of pathogenicity
Select item 358397	NM_005045.4(RELN):c.5136G>A (p.Thr1712=)	RELN	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 130125	NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg)	RELN (P1703R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 167584	NM_005045.4(RELN):c.5044G>A (p.Val1682Ile)	RELN (V1682I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 284901	NM_005045.4(RELN):c.5002A>G (p.Met1668Val)	RELN (M1668V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 475969	NM_005045.4(RELN):c.4937-5_4937-4dup	RELN	Duplication (intron variant)	not specified +3 more	GBenign
Select item 196903	NM_005045.4(RELN):c.4937-4del	RELN	Deletion (intron variant)	Norman-Roberts syndrome +2 more	GBenign
Select item 594896	NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr)	RELN (I1645T)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GBenign/Likely benign
Select item 598606	NM_005045.4(RELN):c.4903A>G (p.Met1635Val)	RELN (M1635V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GConflicting classifications of pathogenicity
Select item 196867	NM_005045.4(RELN):c.4872A>G (p.Gln1624=)	RELN	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity

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