Related gene-specific medical variations for Gene (Select 5649) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3362595	NM_005045.4(RELN):c.3136_3140del (p.Gly1046fs)	RELN (G1046fs)	Deletion (frameshift variant)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3362557	NM_005045.4(RELN):c.217G>C (p.Glu73Gln)	RELN (E73Q)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome	GUncertain significance
Select item 3362153	NM_005045.4(RELN):c.5332T>G (p.Cys1778Gly)	RELN (C1778G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360208	NM_005045.4(RELN):c.3847G>T (p.Asp1283Tyr)	RELN (D1283Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359649	NM_005045.4(RELN):c.7679G>A (p.Arg2560Gln)	RELN (R2560Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358942	NM_005045.4(RELN):c.9453del (p.Trp3152fs)	RELN (W3152fs)	Deletion (frameshift variant)	Familial temporal lobe epilepsy 7	GLikely pathogenic
Select item 3351972	NM_005045.4(RELN):c.9277C>T (p.Leu3093Phe)	RELN, SLC26A5-AS1 (L3093F)	Single nucleotide variant (missense variant)	RELN-related disorder	GUncertain significance
Select item 3344161	NM_005045.4(RELN):c.1391dup (p.Ser465fs)	LOC126860131, RELN (S465fs)	Duplication (frameshift variant)	RELN-related disorder	GLikely pathogenic
Select item 3337515	NM_005045.4(RELN):c.9251G>C (p.Gly3084Ala)	RELN, SLC26A5-AS1 (G3084A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337514	NM_005045.4(RELN):c.9875del (p.Gly3292fs)	RELN, SLC26A5-AS1 (G3292fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3313587	NM_005045.4(RELN):c.9109G>A (p.Glu3037Lys)	RELN, SLC26A5-AS1 (E3037K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3313581	NM_005045.4(RELN):c.8268A>T (p.Gln2756His)	RELN, SLC26A5-AS1 (Q2756H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252595	NM_005045.4(RELN):c.8477G>C (p.Ser2826Thr)	RELN, SLC26A5-AS1 (S2826T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245826	NC_000007.13:g.(?_103196019)_(103206706_?)del	RELN	Deletion	Norman-Roberts syndrome +1 more	GLikely pathogenic
Select item 3245825	NC_000007.13:g.(?_103629558)_(103629803_?)del	RELN	Deletion	Norman-Roberts syndrome +1 more	GPathogenic
Select item 3238848	NM_005045.4(RELN):c.10297C>T (p.Gln3433Ter)	RELN, SLC26A5-AS1 (Q3431* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3238807	NM_005045.4(RELN):c.10166_10167del (p.Ser3389fs)	RELN, SLC26A5-AS1 (S3389fs)	Deletion (frameshift variant)	Norman-Roberts syndrome	GLikely pathogenic
Select item 3065514	NM_005045.4(RELN):c.8654C>T (p.Thr2885Ile)	RELN, SLC26A5-AS1 (T2885I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome	GUncertain significance
Select item 3064188	NM_005045.4(RELN):c.3711+2T>C	RELN	Single nucleotide variant (splice donor variant)	Norman-Roberts syndrome	GPathogenic
Select item 3063918	NM_005045.4(RELN):c.9072T>C (p.Pro3024=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3057808	NM_005045.4(RELN):c.9261C>G (p.Gly3087=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	RELN-related disorder	GLikely benign
Select item 3050321	NM_005045.4(RELN):c.8120-12_8120-9del	RELN, SLC26A5-AS1	Deletion (intron variant)	RELN-related disorder	GLikely benign
Select item 3035163	NM_005045.4(RELN):c.8668-7T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	RELN-related disorder	GLikely benign
Select item 2954247	NM_005045.4(RELN):c.8490-24_8490-20dup	RELN, SLC26A5-AS1	Duplication (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2954003	NM_005045.4(RELN):c.8664G>C (p.Leu2888=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2953328	NM_005045.4(RELN):c.8951-4A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952672	NM_005045.4(RELN):c.8534G>T (p.Trp2845Leu)	RELN, SLC26A5-AS1 (W2845L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2952643	NM_005045.4(RELN):c.9480T>G (p.Leu3160=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2952467	NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)	RELN, SLC26A5-AS1 (W3418R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951568	NM_005045.4(RELN):c.9438T>C (p.Asp3146=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951455	NM_005045.4(RELN):c.8130C>A (p.His2710Gln)	RELN, SLC26A5-AS1 (H2710Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951353	NM_005045.4(RELN):c.9887G>A (p.Gly3296Glu)	RELN, SLC26A5-AS1 (G3296E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2951304	NM_005045.4(RELN):c.9447G>T (p.Ser3149=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2951079	NM_005045.4(RELN):c.8516A>G (p.Lys2839Arg)	RELN, SLC26A5-AS1 (K2839R)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2949849	NM_005045.4(RELN):c.8698G>T (p.Glu2900Ter)	RELN, SLC26A5-AS1 (E2900*)	Single nucleotide variant (nonsense)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2949841	NM_005045.4(RELN):c.1441+15A>G	LOC126860131, RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2949827	NM_005045.4(RELN):c.8392C>T (p.Pro2798Ser)	RELN, SLC26A5-AS1 (P2798S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2949796	NM_005045.4(RELN):c.9492T>A (p.Ser3164=)	LOC126860130, RELN +1 more	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2949615	NM_005045.4(RELN):c.8951-15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2949490	NM_005045.4(RELN):c.8398T>C (p.Cys2800Arg)	RELN, SLC26A5-AS1 (C2800R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2948704	NM_005045.4(RELN):c.8537C>T (p.Ala2846Val)	RELN, SLC26A5-AS1 (A2846V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2947732	NM_005045.4(RELN):c.8263A>G (p.Met2755Val)	RELN, SLC26A5-AS1 (M2755V)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2946598	NM_005045.4(RELN):c.10164G>A (p.Val3388=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2946504	NM_005045.4(RELN):c.9444-12dup	LOC126860130, RELN +1 more	Duplication (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GBenign
Select item 2945717	NM_005045.4(RELN):c.8723C>T (p.Ser2908Phe)	RELN, SLC26A5-AS1 (S2908F)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2945373	NM_005045.4(RELN):c.9474dup (p.Cys3159fs)	LOC126860130, RELN +1 more (C3159fs)	Duplication (frameshift variant)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2945220	NM_005045.4(RELN):c.9081C>T (p.Ile3027=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2945209	NM_005045.4(RELN):c.9880G>A (p.Gly3294Ser)	RELN, SLC26A5-AS1 (G3294S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2944004	NM_005045.4(RELN):c.9763+20A>G	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2943990	NM_005045.4(RELN):c.9659G>T (p.Trp3220Leu)	LOC126860130, RELN +1 more (W3220L)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2943833	NM_005045.4(RELN):c.9369+11G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2943162	NM_005045.4(RELN):c.9018A>G (p.Ile3006Met)	RELN, SLC26A5-AS1 (I3006M)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2943072	NM_005045.4(RELN):c.1290-5T>C	LOC126860131, RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2942861	NM_005045.4(RELN):c.8433del (p.Pro2812fs)	RELN, SLC26A5-AS1 (P2812fs)	Deletion (frameshift variant)	Familial temporal lobe epilepsy 7 +1 more	GPathogenic
Select item 2942170	NM_005045.4(RELN):c.9605+16A>T	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2942154	NM_005045.4(RELN):c.9635G>A (p.Gly3212Glu)	LOC126860130, RELN +1 more (G3212E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2942021	NM_005045.4(RELN):c.9783C>T (p.Phe3261=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2941908	NM_005045.4(RELN):c.8314A>C (p.Asn2772His)	RELN, SLC26A5-AS1 (N2772H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2941832	NM_005045.4(RELN):c.10181+15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2941771	NM_005045.4(RELN):c.8205T>C (p.His2735=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GBenign
Select item 2941407	NM_005045.4(RELN):c.8950+12G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2940492	NM_005045.4(RELN):c.8653A>T (p.Thr2885Ser)	RELN, SLC26A5-AS1 (T2885S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2940243	NM_005045.4(RELN):c.1290-16C>T	LOC126860131, RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2939774	NM_005045.4(RELN):c.8539A>G (p.Ile2847Val)	RELN, SLC26A5-AS1 (I2847V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2939513	NM_005045.4(RELN):c.9369+6G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2939299	NM_005045.4(RELN):c.9606-10G>A	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2938767	NM_005045.4(RELN):c.8882A>C (p.Asn2961Thr)	RELN, SLC26A5-AS1 (N2961T)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2938747	NM_005045.4(RELN):c.9027T>G (p.Pro3009=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2938679	NM_005045.4(RELN):c.10280+19G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2938373	NM_005045.4(RELN):c.9793C>A (p.Leu3265Ile)	RELN, SLC26A5-AS1 (L3265I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2937876	NM_005045.4(RELN):c.8950+11G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2937457	NM_005045.4(RELN):c.9194-17C>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2936451	NM_005045.4(RELN):c.9443+13A>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2936342	NM_005045.4(RELN):c.10266T>C (p.His3422=)	SLC26A5-AS1, RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GBenign
Select item 2936333	NM_005045.4(RELN):c.8271C>T (p.Phe2757=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2936143	NM_005045.4(RELN):c.8683C>A (p.Arg2895Ser)	RELN, SLC26A5-AS1 (R2895S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2935373	NM_005045.4(RELN):c.9233A>G (p.Asn3078Ser)	RELN, SLC26A5-AS1 (N3078S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2935110	NM_005045.4(RELN):c.9443+3T>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2934824	NM_005045.4(RELN):c.8274+16C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2934816	NM_005045.4(RELN):c.8605G>C (p.Glu2869Gln)	RELN, SLC26A5-AS1 (E2869Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2934773	NM_005045.4(RELN):c.8274+8G>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2934571	NM_005045.4(RELN):c.9794T>C (p.Leu3265Pro)	RELN, SLC26A5-AS1 (L3265P)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2934356	NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)	RELN, SLC26A5-AS1 (R3397W)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2934348	NM_005045.4(RELN):c.8121G>C (p.Val2707=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2934204	NM_005045.4(RELN):c.8490-11A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2934105	NM_005045.4(RELN):c.8327T>G (p.Val2776Gly)	RELN, SLC26A5-AS1 (V2776G)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2933954	NM_005045.4(RELN):c.9448G>T (p.Asp3150Tyr)	LOC126860130, RELN +1 more (D3150Y)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2933686	NM_005045.4(RELN):c.8438C>A (p.Thr2813Asn)	RELN, SLC26A5-AS1 (T2813N)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2933438	NM_005045.4(RELN):c.9466C>G (p.Gln3156Glu)	LOC126860130, RELN +1 more (Q3156E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2933126	NM_005045.4(RELN):c.10182-18C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2932771	NM_005045.4(RELN):c.1290-10T>G	LOC126860131, RELN	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2932717	NM_005045.4(RELN):c.10332G>A (p.Gly3444=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2932144	NM_005045.4(RELN):c.9370-20A>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2931665	NM_005045.4(RELN):c.8247C>A (p.Pro2749=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2931621	NM_005045.4(RELN):c.9442A>C (p.Arg3148=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2931301	NM_005045.4(RELN):c.9095T>A (p.Val3032Glu)	RELN, SLC26A5-AS1 (V3032E)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2931191	NM_005045.4(RELN):c.1401C>T (p.Asp467=)	LOC126860131, RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2931158	NM_005045.4(RELN):c.1299C>T (p.Val433=)	LOC126860131, RELN	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2930658	NM_005045.4(RELN):c.9764-5T>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2930408	NM_005045.4(RELN):c.9605+9C>G	LOC126860130, RELN +1 more	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign

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