5649[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 57092	GRCh38/hg38 7q22.1-22.3(chr7:101525795-105432462)x3	ALKBH4, ARMC10 +149 more	Copy number gain	See cases	GPathogenic
Select item 57255	GRCh38/hg38 7q22.1-31.1(chr7:101807149-112414850)x1	ALKBH4, ARMC10 +292 more	Copy number loss	See cases	GPathogenic
Select item 148448	GRCh38/hg38 7q22.1-31.31(chr7:102196924-121278641)x1	ALKBH4, ANKRD7 +474 more	Copy number loss	See cases	GPathogenic
Select item 60283	GRCh38/hg38 7q22.1-22.3(chr7:102808199-105701108)x1	ARMC10, ATXN7L1 +86 more	Copy number loss	See cases	GPathogenic
Select item 144348	GRCh38/hg38 7q22.1(chr7:103326703-103763175)x1	DNAJC2, LOC121175357 +11 more	Copy number loss	See cases	GUncertain significance
Select item 912193	NM_005045.4(RELN):c.*857T>C	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 358366	NM_005045.4(RELN):c.*803AG[1]	RELN, SLC26A5-AS1	Microsatellite (3 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 358367	NM_005045.4(RELN):c.*660C>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Lissencephaly, Recessive	GUncertain significance
Select item 358368	NM_005045.4(RELN):c.*576G>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GLikely benign
Select item 908183	NM_005045.4(RELN):c.*563C>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GBenign
Select item 908184	NM_005045.4(RELN):c.*526A>G	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 908185	NM_005045.4(RELN):c.*487C>T	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 358369	NM_005045.4(RELN):c.*397G>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GBenign
Select item 908186	NM_005045.4(RELN):c.*374G>C	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 908187	NM_005045.4(RELN):c.*263T>C	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 358370	NM_005045.4(RELN):c.*151T>C	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome +1 more	GBenign
Select item 358371	NM_005045.4(RELN):c.*136G>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 910130	NM_005045.4(RELN):c.*135C>T	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 910131	NM_005045.4(RELN):c.*109G>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 910132	NM_005045.4(RELN):c.*94T>C	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 358372	NM_005045.4(RELN):c.*82T>C	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 910133	NM_005045.4(RELN):c.*81A>G	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 910134	NM_005045.4(RELN):c.*68C>T	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 358373	NM_005045.4(RELN):c.*67G>A	RELN, SLC26A5-AS1	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome +1 more	GBenign
Select item 358374	NM_005045.4(RELN):c.*37G>A	SLC26A5-AS1, RELN	Single nucleotide variant (3 prime UTR variant)	Norman-Roberts syndrome	GUncertain significance
Select item 2924803	NM_005045.4(RELN):c.10381T>C (p.Ter3461Arg)	RELN, SLC26A5-AS1	Single nucleotide variant (stop lost)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1014284	NM_005045.4(RELN):c.10373G>A (p.Arg3458Gln)	RELN, SLC26A5-AS1 (R3456Q +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 843393	NM_005045.4(RELN):c.10372C>T (p.Arg3458Ter)	RELN, SLC26A5-AS1 (R3456* +1 more)	Single nucleotide variant (nonsense)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1156070	NM_005045.4(RELN):c.10368T>C (p.Leu3456=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 838111	NM_005045.4(RELN):c.10358G>A (p.Arg3453Gln)	SLC26A5-AS1, RELN (R3453Q +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +2 more	GUncertain significance
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 432578	NM_005045.4(RELN):c.10355G>A (p.Arg3452Lys)	RELN, SLC26A5-AS1 (R3452K +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1467018	NM_005045.4(RELN):c.10352G>T (p.Arg3451Ile)	RELN, SLC26A5-AS1 (R3451I +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
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 2682990	NM_005045.4(RELN):c.10340A>G (p.His3447Arg)	RELN, SLC26A5-AS1 (H3445R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2932717	NM_005045.4(RELN):c.10332G>A (p.Gly3444=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 838832	NM_005045.4(RELN):c.10322_10324del (p.Arg3441del)	RELN, SLC26A5-AS1 (R3439del +1 more)	Deletion (inframe_deletion)	Norman-Roberts syndrome +1 more	GUncertain significance
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 2580816	NM_005045.4(RELN):c.10314T>G (p.Asn3438Lys)	RELN, SLC26A5-AS1 (N3436K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 475948	NM_005045.4(RELN):c.10307TGA[1] (p.Met3437del)	SLC26A5-AS1, RELN (M3437del +1 more)	Microsatellite (inframe_deletion)	Familial temporal lobe epilepsy 7 +1 more	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)	Familial temporal lobe epilepsy 7 +3 more	GConflicting classifications of pathogenicity
Select item 981443	NM_005045.4(RELN):c.10306A>G (p.Met3436Val)	RELN, SLC26A5-AS1 (M3434V +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GUncertain significance
Select item 1395482	NM_005045.4(RELN):c.10303T>C (p.Tyr3435His)	RELN, SLC26A5-AS1 (Y3435H +1 more)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1507711	NM_005045.4(RELN):c.10292G>A (p.Arg3431His)	RELN, SLC26A5-AS1 (R3429H +1 more)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1414828	NM_005045.4(RELN):c.10288A>C (p.Thr3430Pro)	RELN, SLC26A5-AS1 (T3430P +1 more)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2139122	NM_005045.4(RELN):c.10287-6T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 358376	NM_005045.4(RELN):c.10287-7T>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome	GUncertain significance
Select item 1203642	NM_005045.4(RELN):c.10287-59G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201604	NM_005045.4(RELN):c.10287-77G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1230898	NM_005045.4(RELN):c.10286+283G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295488	NM_005045.4(RELN):c.10286+112del	RELN, SLC26A5-AS1	Deletion (intron variant)	not provided	GBenign
Select item 1118554	NM_005045.4(RELN):c.10286+10_10286+12del	RELN, SLC26A5-AS1	Microsatellite (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 2165494	NM_005045.4(RELN):c.10286+8C>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2629190	NM_005045.4(RELN):c.10286+1G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant +1 more)	RELN-related condition	GUncertain significance
Select item 1651376	NM_005045.4(RELN):c.10281-10T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 1535314	NM_005045.4(RELN):c.10281-15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1211611	NM_005045.4(RELN):c.10281-293A>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1200310	NM_005045.4(RELN):c.10280+89C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2938679	NM_005045.4(RELN):c.10280+19G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1654527	NM_005045.4(RELN):c.10280+12T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1590813	NM_005045.4(RELN):c.10280+11A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 932041	NM_005045.4(RELN):c.10280+7A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1438362	NM_005045.4(RELN):c.10273GTC[1] (p.Val3426del)	RELN, SLC26A5-AS1 (V3426del)	Microsatellite (inframe_deletion)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 475947	NM_005045.4(RELN):c.10276G>A (p.Val3426Ile)	RELN, SLC26A5-AS1 (V3426I)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 798063	NM_005045.4(RELN):c.10275C>T (p.Val3425=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1464839	NM_005045.4(RELN):c.10273G>A (p.Val3425Ile)	RELN, SLC26A5-AS1 (V3425I)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1023132	NM_005045.4(RELN):c.10267G>A (p.Val3423Met)	RELN, SLC26A5-AS1 (V3423M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2936342	NM_005045.4(RELN):c.10266T>C (p.His3422=)	SLC26A5-AS1, RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GBenign
Select item 1485514	NM_005045.4(RELN):c.10255G>T (p.Ala3419Ser)	SLC26A5-AS1, RELN (A3419S)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2952467	NM_005045.4(RELN):c.10252T>C (p.Trp3418Arg)	RELN, SLC26A5-AS1 (W3418R)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 2927681	NM_005045.4(RELN):c.10251A>C (p.Gln3417His)	RELN, SLC26A5-AS1 (Q3417H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2657889	NM_005045.4(RELN):c.10250A>G (p.Gln3417Arg)	RELN, SLC26A5-AS1 (Q3417R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042752	NM_005045.4(RELN):c.10248T>A (p.Asp3416Glu)	RELN, SLC26A5-AS1 (D3416E)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1139491	NM_005045.4(RELN):c.10233T>C (p.Asn3411=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Familial temporal lobe epilepsy 7 +1 more	GLikely benign
Select item 968994	NM_005045.4(RELN):c.10232A>G (p.Asn3411Ser)	RELN, SLC26A5-AS1 (N3411S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1978096	NM_005045.4(RELN):c.10231A>G (p.Asn3411Asp)	RELN, SLC26A5-AS1 (N3411D)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2182202	NM_005045.4(RELN):c.10226G>A (p.Arg3409His)	RELN, SLC26A5-AS1 (R3409H)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 2928371	NM_005045.4(RELN):c.10225C>T (p.Arg3409Cys)	RELN, SLC26A5-AS1 (R3409C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 1496328	NM_005045.4(RELN):c.10211G>A (p.Arg3404His)	RELN, SLC26A5-AS1 (R3404H)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 841644	NM_005045.4(RELN):c.10210C>T (p.Arg3404Cys)	RELN, SLC26A5-AS1 (R3404C)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 1381153	NM_005045.4(RELN):c.10207C>G (p.Leu3403Val)	RELN, SLC26A5-AS1 (L3403V)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 2579026	NM_005045.4(RELN):c.10205T>C (p.Leu3402Ser)	RELN, SLC26A5-AS1 (L3402S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1604953	NM_005045.4(RELN):c.10191G>A (p.Arg3397=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 999253	NM_005045.4(RELN):c.10190G>A (p.Arg3397Gln)	RELN, SLC26A5-AS1 (R3397Q)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +2 more	GUncertain significance
Select item 2934356	NM_005045.4(RELN):c.10189C>T (p.Arg3397Trp)	RELN, SLC26A5-AS1 (R3397W)	Single nucleotide variant (missense variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 511943	NM_005045.4(RELN):c.10182-9G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +2 more	GLikely benign
Select item 358377	NM_005045.4(RELN):c.10182-11G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2933126	NM_005045.4(RELN):c.10182-18C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 676919	NM_005045.4(RELN):c.10182-40C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202243	NM_005045.4(RELN):c.10182-50del	RELN, SLC26A5-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 1227724	NM_005045.4(RELN):c.10182-182G>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295484	NM_005045.4(RELN):c.10181+109A>G	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2941832	NM_005045.4(RELN):c.10181+15T>C	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 382037	NM_005045.4(RELN):c.10181+11C>T	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 475946	NM_005045.4(RELN):c.10181+7G>A	RELN, SLC26A5-AS1	Single nucleotide variant (intron variant)	Norman-Roberts syndrome +1 more	GUncertain significance
Select item 660465	NM_005045.4(RELN):c.10177C>T (p.Pro3393Ser)	RELN, SLC26A5-AS1 (P3393S)	Single nucleotide variant (missense variant)	Familial temporal lobe epilepsy 7 +1 more	GUncertain significance
Select item 1113847	NM_005045.4(RELN):c.10176C>T (p.Val3392=)	RELN, SLC26A5-AS1	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome +1 more	GLikely benign
Select item 911021	NM_005045.4(RELN):c.10173T>C (p.Asn3391=)	SLC26A5-AS1, RELN	Single nucleotide variant (synonymous variant)	Norman-Roberts syndrome	GUncertain significance

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