"GeneDx"[submitter] AND "SPEN"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 111

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59885	GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	AADACL3, AADACL4 +462 more	Copy number loss	See cases	GPathogenic
Select item 59892	GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	AADACL3, AADACL4 +337 more	Copy number loss	See cases	GPathogenic
Select item 59894	GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	LOC112577504, LOC112577505 +316 more	Copy number loss	See cases	GPathogenic
Select item 59895	GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	AADACL3, AADACL4 +288 more	Copy number loss	See cases	GPathogenic
Select item 58056	GRCh38/hg38 1p36.21-36.13(chr1:13619979-18466172)x3	LOC129929515, LOC129929516 +211 more	Copy number gain	See cases	GPathogenic
Select item 1320457	NM_015001.3(SPEN):c.100A>G (p.Ser34Gly)	SPEN (S34G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500429	NM_015001.3(SPEN):c.326G>A (p.Gly109Glu)	SPEN (G109E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505710	NM_015001.3(SPEN):c.455A>C (p.His152Pro)	SPEN (H152P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363297	NM_015001.3(SPEN):c.562A>T (p.Ser188Cys)	SPEN (S188C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723034	NM_015001.3(SPEN):c.634C>T (p.Pro212Ser)	SPEN (P212S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370108	NM_015001.3(SPEN):c.889T>C (p.Ser297Pro)	SPEN (S297P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 744144	NM_015001.3(SPEN):c.908A>G (p.Asp303Gly)	SPEN (D303G)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 3253124	NM_015001.3(SPEN):c.956C>T (p.Thr319Ile)	SPEN (T319I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366202	NM_015001.3(SPEN):c.991C>A (p.Pro331Thr)	SPEN (P331T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698196	NM_015001.3(SPEN):c.1167A>C (p.Gln389His)	SPEN (Q389H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317319	NM_015001.3(SPEN):c.1201T>C (p.Phe401Leu)	SPEN (F401L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577769	NM_015001.3(SPEN):c.1309A>G (p.Thr437Ala)	SPEN (T437A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369610	NM_015001.3(SPEN):c.1454A>T (p.Asp485Val)	SPEN (D485V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723702	NM_015001.3(SPEN):c.1577C>T (p.Ser526Leu)	SPEN (S526L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992599	NM_015001.3(SPEN):c.1603C>T (p.Arg535Ter)	SPEN (R535*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2430922	NM_015001.3(SPEN):c.1703C>T (p.Ala568Val)	SPEN (A568V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502742	NM_015001.3(SPEN):c.1766G>A (p.Arg589Gln)	SPEN (R589Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363393	NM_015001.3(SPEN):c.1850G>A (p.Arg617Lys)	SPEN (R617K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502736	NM_015001.3(SPEN):c.1903A>G (p.Ser635Gly)	SPEN (S635G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699614	NM_015001.3(SPEN):c.2017T>C (p.Tyr673His)	SPEN (Y673H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662110	NM_015001.3(SPEN):c.2138G>A (p.Arg713Gln)	SPEN (R713Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711973	NM_015001.3(SPEN):c.2210C>G (p.Pro737Arg)	SPEN (P737R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320782	NM_015001.3(SPEN):c.2288G>A (p.Ser763Asn)	SPEN (S763N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 984592	NM_015001.3(SPEN):c.2417_2418dup (p.Arg807fs)	SPEN (R807fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1683931	NM_015001.3(SPEN):c.2420G>C (p.Arg807Pro)	SPEN (R807P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2571913	NM_015001.3(SPEN):c.2701G>A (p.Ala901Thr)	SPEN (A901T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317334	NM_015001.3(SPEN):c.2857_2859del (p.Glu953del)	SPEN (E953del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1233038	NM_015001.3(SPEN):c.2909C>T (p.Ala970Val)	SPEN (A970V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1800840	NM_015001.3(SPEN):c.2948C>T (p.Ala983Val)	SPEN (A983V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315906	NM_015001.3(SPEN):c.3455C>A (p.Ser1152Ter)	SPEN (S1152*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 992606	NM_015001.3(SPEN):c.3508C>T (p.Arg1170Ter)	SPEN (R1170*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1318773	NM_015001.3(SPEN):c.3631G>A (p.Val1211Ile)	SPEN (V1211I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2473706	NM_015001.3(SPEN):c.3721C>T (p.Arg1241Ter)	SPEN (R1241*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 985376	NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter)	SPEN (R1265*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic
Select item 3373032	NM_015001.3(SPEN):c.4021G>T (p.Asp1341Tyr)	SPEN (D1341Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343958	NM_015001.3(SPEN):c.4246C>T (p.Arg1416Cys)	SPEN (R1416C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505690	NM_015001.3(SPEN):c.4289A>G (p.Lys1430Arg)	SPEN (K1430R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3372624	NM_015001.3(SPEN):c.4325C>T (p.Pro1442Leu)	SPEN (P1442L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342038	NM_015001.3(SPEN):c.4408C>T (p.Arg1470Ter)	SPEN (R1470*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2580708	NM_015001.3(SPEN):c.4420T>G (p.Phe1474Val)	SPEN (F1474V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1800857	NM_015001.3(SPEN):c.4454C>G (p.Ser1485Cys)	SPEN (S1485C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369446	NM_015001.3(SPEN):c.4525G>T (p.Asp1509Tyr)	SPEN (D1509Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698149	NM_015001.3(SPEN):c.4636C>A (p.Leu1546Ile)	SPEN (L1546I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343246	NM_015001.3(SPEN):c.4731A>C (p.Gln1577His)	SPEN (Q1577H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3322149	NM_015001.3(SPEN):c.4904C>T (p.Pro1635Leu)	SPEN (P1635L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2430473	NM_015001.3(SPEN):c.5020G>A (p.Val1674Met)	SPEN (V1674M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370227	NM_015001.3(SPEN):c.5159A>G (p.Glu1720Gly)	SPEN (E1720G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683932	NM_015001.3(SPEN):c.5209A>C (p.Thr1737Pro)	SPEN (T1737P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3367613	NM_015001.3(SPEN):c.5471C>T (p.Ser1824Leu)	SPEN (S1824L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364583	NM_015001.3(SPEN):c.5669C>G (p.Pro1890Arg)	SPEN (P1890R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504254	NM_015001.3(SPEN):c.5684C>T (p.Pro1895Leu)	SPEN (P1895L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371840	NM_015001.3(SPEN):c.5702G>A (p.Arg1901His)	SPEN (R1901H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446311	NM_015001.3(SPEN):c.5732_5737del (p.Met1911_Asp1913delinsAsn)	SPEN	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 1800558	NM_015001.3(SPEN):c.5782A>G (p.Arg1928Gly)	SPEN (R1928G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1320486	NM_015001.3(SPEN):c.6016dup (p.Val2006fs)	SPEN (V2006fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 1712007	NM_015001.3(SPEN):c.6159C>A (p.Asn2053Lys)	SPEN (N2053K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573924	NM_015001.3(SPEN):c.6307del (p.Arg2103fs)	SPEN (R2103fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3378085	NM_015001.3(SPEN):c.6342del (p.Val2116fs)	SPEN (V2116fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1223225	NM_015001.3(SPEN):c.6364G>T (p.Glu2122Ter)	SPEN (E2122*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1710844	NM_015001.3(SPEN):c.6399ATC[1] (p.Ser2135del)	SPEN (S2135del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 992614	NM_015001.3(SPEN):c.6799G>T (p.Glu2267Ter)	SPEN (E2267*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 1698053	NM_015001.3(SPEN):c.6861T>G (p.Asn2287Lys)	SPEN (N2287K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502524	NM_015001.3(SPEN):c.6961G>C (p.Val2321Leu)	SPEN (V2321L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 992615	NM_015001.3(SPEN):c.7024C>T (p.Arg2342Ter)	SPEN (R2342*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1268492	NM_015001.3(SPEN):c.7078A>G (p.Asn2360Asp)	SPEN (N2360D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1317440	NM_015001.3(SPEN):c.7502G>A (p.Trp2501Ter)	SPEN (W2501*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2579407	NM_015001.3(SPEN):c.7558C>G (p.Pro2520Ala)	SPEN (P2520A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500457	NM_015001.3(SPEN):c.7763C>G (p.Pro2588Arg)	SPEN (P2588R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253063	NM_015001.3(SPEN):c.7768G>A (p.Val2590Met)	SPEN (V2590M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2571682	NM_015001.3(SPEN):c.7879G>A (p.Val2627Ile)	SPEN (V2627I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446681	NM_015001.3(SPEN):c.7946G>A (p.Gly2649Asp)	SPEN (G2649D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368437	NM_015001.3(SPEN):c.7987G>C (p.Val2663Leu)	SPEN (V2663L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582123	NM_015001.3(SPEN):c.8065C>T (p.Pro2689Ser)	SPEN (P2689S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1342068	NM_015001.3(SPEN):c.8181C>T (p.Ala2727=)	SPEN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2580645	NM_015001.3(SPEN):c.8297T>G (p.Val2766Gly)	SPEN (V2766G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1703336	NM_015001.3(SPEN):c.8303C>T (p.Ala2768Val)	SPEN (A2768V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368522	NM_015001.3(SPEN):c.8419C>T (p.Arg2807Cys)	SPEN (R2807C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367899	NM_015001.3(SPEN):c.8420G>A (p.Arg2807His)	SPEN (R2807H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706121	NM_015001.3(SPEN):c.8532C>G (p.Asp2844Glu)	SPEN (D2844E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343428	NM_015001.3(SPEN):c.8588C>T (p.Ala2863Val)	SPEN (A2863V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367428	NM_015001.3(SPEN):c.8605A>G (p.Lys2869Glu)	SPEN (K2869E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1806677	NM_015001.3(SPEN):c.8886C>G (p.Asp2962Glu)	SPEN (D2962E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363325	NM_015001.3(SPEN):c.9032G>C (p.Arg3011Pro)	SPEN (R3011P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365067	NM_015001.3(SPEN):c.9068C>T (p.Ala3023Val)	SPEN (A3023V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580009	NM_015001.3(SPEN):c.9094G>T (p.Gly3032Trp)	SPEN (G3032W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367722	NM_015001.3(SPEN):c.9223C>G (p.Gln3075Glu)	SPEN (Q3075E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370092	NM_015001.3(SPEN):c.9484T>C (p.Tyr3162His)	SPEN (Y3162H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2442727	NM_015001.3(SPEN):c.9604C>A (p.His3202Asn)	SPEN (H3202N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580014	NM_015001.3(SPEN):c.9631A>G (p.Arg3211Gly)	SPEN (R3211G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3373017	NM_015001.3(SPEN):c.9722C>T (p.Ala3241Val)	SPEN (A3241V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2502064	NM_015001.3(SPEN):c.9946C>G (p.Pro3316Ala)	SPEN (P3316A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430646	NM_015001.3(SPEN):c.10031C>A (p.Pro3344His)	SPEN (P3344H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365304	NM_015001.3(SPEN):c.10177A>C (p.Lys3393Gln)	SPEN (K3393Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369438	NM_015001.3(SPEN):c.10292T>C (p.Phe3431Ser)	SPEN (F3431S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364964	NM_015001.3(SPEN):c.10465C>T (p.His3489Tyr)	SPEN (H3489Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 2