24616[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 146110	GRCh38/hg38 19p13.3(chr19:259395-2068507)x3	LOC130062818, LOC130062819 +332 more	Copy number gain	See cases	GPathogenic
Select item 59078	GRCh38/hg38 19p13.3(chr19:259395-1952650)x3	ABCA7, ABHD17A +321 more	Copy number gain	See cases	GPathogenic
Select item 57357	GRCh38/hg38 19p13.3(chr19:259395-2555149)x3	ABCA7, ABHD17A +429 more	Copy number gain	See cases	GPathogenic
Select item 152851	GRCh38/hg38 19p13.3(chr19:275925-1892276)x3	ABCA7, ABHD17A +301 more	Copy number gain	See cases	GPathogenic
Select item 145542	GRCh38/hg38 19p13.3(chr19:421537-2897921)x3	ABCA7, ABHD17A +453 more	Copy number gain	See cases	GLikely pathogenic
Select item 60066	GRCh38/hg38 19p13.3(chr19:945098-1972299)x1	LOC130062906, LOC130062907 +222 more	Copy number loss	See cases	GPathogenic
Select item 147726	GRCh38/hg38 19p13.3(chr19:1351163-2555149)x3	ABHD17A, ADAMTSL5 +219 more	Copy number gain	See cases	GUncertain significance
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 60069	GRCh38/hg38 19p13.3(chr19:1727562-2306496)x1	ABHD17A, ADAT3 +108 more	Copy number loss	See cases	GPathogenic
Select item 2538620	NM_020695.4(REXO1):c.3641G>A (p.Arg1214Gln)	REXO1 (R1214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620429	NM_020695.4(REXO1):c.3545C>A (p.Ala1182Asp)	REXO1 (A1182D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276106	NM_020695.4(REXO1):c.3532C>T (p.Arg1178Trp)	REXO1 (R1178W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153299	NM_020695.4(REXO1):c.3524G>A (p.Arg1175Gln)	REXO1 (R1175Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313826	NM_020695.4(REXO1):c.3502C>T (p.Arg1168Cys)	REXO1 (R1168C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153297	NM_020695.4(REXO1):c.3356G>T (p.Ser1119Ile)	REXO1 (S1119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266303	NM_020695.4(REXO1):c.3349G>A (p.Asp1117Asn)	REXO1 (D1117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313820	NM_020695.4(REXO1):c.3298A>G (p.Ile1100Val)	REXO1 (I1100V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153296	NM_020695.4(REXO1):c.3293A>G (p.Asn1098Ser)	REXO1 (N1098S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540608	NM_020695.4(REXO1):c.3249C>G (p.Asp1083Glu)	REXO1 (D1083E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612662	NM_020695.4(REXO1):c.3239C>T (p.Thr1080Met)	REXO1 (T1080M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153295	NM_020695.4(REXO1):c.3235G>C (p.Val1079Leu)	REXO1 (V1079L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210155	NM_020695.4(REXO1):c.3214T>G (p.Tyr1072Asp)	REXO1 (Y1072D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153294	NM_020695.4(REXO1):c.3160G>A (p.Gly1054Arg)	REXO1 (G1054R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313822	NM_020695.4(REXO1):c.3119G>A (p.Arg1040His)	REXO1 (R1040H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291302	NM_020695.4(REXO1):c.3061G>A (p.Ala1021Thr)	REXO1 (A1021T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513389	NM_020695.4(REXO1):c.3020C>T (p.Ala1007Val)	REXO1 (A1007V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569838	NM_020695.4(REXO1):c.3008G>A (p.Arg1003Gln)	REXO1 (R1003Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153293	NM_020695.4(REXO1):c.2969G>A (p.Arg990Gln)	REXO1 (R990Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153292	NM_020695.4(REXO1):c.2960G>A (p.Arg987His)	REXO1 (R987H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622775	NM_020695.4(REXO1):c.2941C>G (p.Leu981Val)	REXO1 (L981V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313829	NM_020695.4(REXO1):c.2857G>A (p.Gly953Arg)	REXO1 (G953R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592855	NM_020695.4(REXO1):c.2840C>T (p.Pro947Leu)	REXO1 (P947L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313823	NM_020695.4(REXO1):c.2793G>T (p.Glu931Asp)	REXO1 (E931D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369444	NM_020695.4(REXO1):c.2747G>A (p.Arg916Gln)	REXO1 (R916Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313834	NM_020695.4(REXO1):c.2740A>G (p.Ser914Gly)	REXO1 (S914G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508428	NM_020695.4(REXO1):c.2731C>T (p.Arg911Cys)	REXO1 (R911C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356862	NM_020695.4(REXO1):c.2723C>T (p.Ser908Leu)	REXO1 (S908L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518826	NM_020695.4(REXO1):c.2693G>A (p.Gly898Glu)	REXO1 (G898E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460610	NM_020695.4(REXO1):c.2686G>T (p.Val896Leu)	REXO1 (V896L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 773896	NM_020695.4(REXO1):c.2669T>C (p.Val890Ala)	REXO1 (V890A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2256351	NM_020695.4(REXO1):c.2535C>A (p.Asn845Lys)	REXO1 (N845K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475585	NM_020695.4(REXO1):c.2509C>G (p.Gln837Glu)	REXO1 (Q837E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338707	NM_020695.4(REXO1):c.2479G>A (p.Glu827Lys)	REXO1 (E827K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241413	NM_020695.4(REXO1):c.2446G>A (p.Val816Ile)	REXO1 (V816I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353265	NM_020695.4(REXO1):c.2410A>G (p.Ile804Val)	REXO1 (I804V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620428	NM_020695.4(REXO1):c.2375C>T (p.Ala792Val)	REXO1 (A792V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494679	NM_020695.4(REXO1):c.2359A>G (p.Ile787Val)	REXO1 (I787V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344026	NM_020695.4(REXO1):c.2293C>T (p.Pro765Ser)	REXO1 (P765S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3153289	NM_020695.4(REXO1):c.2287C>T (p.Pro763Ser)	REXO1 (P763S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153287	NM_020695.4(REXO1):c.2282A>G (p.Asn761Ser)	REXO1 (N761S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153286	NM_020695.4(REXO1):c.2271C>G (p.Ser757Arg)	REXO1 (S757R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313819	NM_020695.4(REXO1):c.2218C>T (p.Arg740Cys)	LOC100288123, REXO1 (R740C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153285	NM_020695.4(REXO1):c.2204A>G (p.His735Arg)	LOC100288123, REXO1 (H735R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153284	NM_020695.4(REXO1):c.2137G>A (p.Ala713Thr)	LOC100288123, REXO1 (A713T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2596497	NM_020695.4(REXO1):c.2116G>A (p.Ala706Thr)	LOC100288123, REXO1 (A706T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2367553	NM_020695.4(REXO1):c.2114C>T (p.Ser705Leu)	LOC100288123, REXO1 (S705L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3313817	NM_020695.4(REXO1):c.2102C>T (p.Ala701Val)	LOC100288123, REXO1 (A701V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3153283	NM_020695.4(REXO1):c.2090G>A (p.Arg697Gln)	LOC100288123, REXO1 (R697Q)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2490609	NM_020695.4(REXO1):c.2056C>T (p.Arg686Trp)	LOC100288123, REXO1 (R686W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595255	NM_020695.4(REXO1):c.2047C>T (p.Pro683Ser)	LOC100288123, REXO1 (P683S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153280	NM_020695.4(REXO1):c.2014G>A (p.Glu672Lys)	REXO1 (E672K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153279	NM_020695.4(REXO1):c.1972G>C (p.Gly658Arg)	REXO1 (G658R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153278	NM_020695.4(REXO1):c.1949C>T (p.Ser650Leu)	REXO1 (S650L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153277	NM_020695.4(REXO1):c.1949C>G (p.Ser650Trp)	REXO1 (S650W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377582	NM_020695.4(REXO1):c.1883C>T (p.Thr628Met)	REXO1 (T628M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591585	NM_020695.4(REXO1):c.1876G>A (p.Val626Ile)	REXO1 (V626I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541557	NM_020695.4(REXO1):c.1875C>G (p.Ser625Arg)	REXO1 (S625R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217810	NM_020695.4(REXO1):c.1799C>T (p.Ser600Leu)	REXO1 (S600L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397642	NM_020695.4(REXO1):c.1778C>T (p.Ala593Val)	REXO1 (A593V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300842	NM_020695.4(REXO1):c.1777G>A (p.Ala593Thr)	REXO1 (A593T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282190	NM_020695.4(REXO1):c.1769C>T (p.Thr590Ile)	REXO1 (T590I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569430	NM_020695.4(REXO1):c.1768A>T (p.Thr590Ser)	REXO1 (T590S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313825	NM_020695.4(REXO1):c.1727C>G (p.Pro576Arg)	REXO1 (P576R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392691	NM_020695.4(REXO1):c.1721C>T (p.Pro574Leu)	REXO1 (P574L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153275	NM_020695.4(REXO1):c.1697C>T (p.Pro566Leu)	REXO1 (P566L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231728	NM_020695.4(REXO1):c.1688C>T (p.Ala563Val)	REXO1 (A563V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153274	NM_020695.4(REXO1):c.1607C>T (p.Pro536Leu)	REXO1 (P536L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330063	NM_020695.4(REXO1):c.1597C>T (p.Pro533Ser)	REXO1 (P533S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153273	NM_020695.4(REXO1):c.1591G>T (p.Ala531Ser)	REXO1 (A531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153272	NM_020695.4(REXO1):c.1523C>T (p.Ala508Val)	REXO1 (A508V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531766	NM_020695.4(REXO1):c.1506G>C (p.Glu502Asp)	REXO1 (E502D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392191	NM_020695.4(REXO1):c.1484G>A (p.Arg495Gln)	REXO1 (R495Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1685062	NM_020695.4(REXO1):c.1446_1449del (p.Lys483fs)	REXO1 (K483fs)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3153271	NM_020695.4(REXO1):c.1417C>T (p.Pro473Ser)	REXO1 (P473S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403600	NM_020695.4(REXO1):c.1408G>A (p.Gly470Ser)	REXO1 (G470S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313828	NM_020695.4(REXO1):c.1393T>C (p.Ser465Pro)	REXO1 (S465P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295345	NM_020695.4(REXO1):c.1385G>C (p.Ser462Thr)	REXO1 (S462T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153270	NM_020695.4(REXO1):c.1379C>G (p.Pro460Arg)	REXO1 (P460R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590609	NM_020695.4(REXO1):c.1370G>A (p.Arg457Gln)	REXO1 (R457Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3313818	NM_020695.4(REXO1):c.1366C>T (p.Arg456Trp)	REXO1 (R456W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3313832	NM_020695.4(REXO1):c.1340G>A (p.Gly447Glu)	REXO1 (G447E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3153269	NM_020695.4(REXO1):c.1289C>T (p.Pro430Leu)	REXO1 (P430L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153268	NM_020695.4(REXO1):c.1274G>A (p.Arg425His)	REXO1 (R425H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342527	NM_020695.4(REXO1):c.1270C>T (p.Arg424Trp)	REXO1 (R424W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308808	NM_020695.4(REXO1):c.1261A>G (p.Ser421Gly)	REXO1 (S421G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3153267	NM_020695.4(REXO1):c.1253C>T (p.Pro418Leu)	REXO1 (P418L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315564	NM_020695.4(REXO1):c.1235G>A (p.Arg412His)	REXO1 (R412H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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