ClinVar for Gene (Select 25938) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3104841	NM_015473.4(HEATR5A):c.633G>A (p.Met211Ile)	HEATR5A (M211I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104840	NM_015473.4(HEATR5A):c.6017A>T (p.Lys2006Ile)	HEATR5A (K2006I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104839	NM_015473.4(HEATR5A):c.5929C>T (p.His1977Tyr)	HEATR5A (H1977Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104838	NM_015473.4(HEATR5A):c.581G>A (p.Arg194His)	HEATR5A (R194H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104837	NM_015473.4(HEATR5A):c.5699C>G (p.Ser1900Cys)	HEATR5A (S1900C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104836	NM_015473.4(HEATR5A):c.5386C>T (p.Arg1796Trp)	HEATR5A (R1796W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104835	NM_015473.4(HEATR5A):c.5362G>A (p.Gly1788Arg)	HEATR5A (G1788R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104834	NM_015473.4(HEATR5A):c.5312C>T (p.Pro1771Leu)	HEATR5A (P1771L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104833	NM_015473.4(HEATR5A):c.4868G>T (p.Arg1623Ile)	HEATR5A (R1623I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104832	NM_015473.4(HEATR5A):c.4775T>C (p.Leu1592Pro)	HEATR5A (L1592P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104830	NM_015473.4(HEATR5A):c.4679A>G (p.His1560Arg)	HEATR5A (H1560R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104829	NM_015473.4(HEATR5A):c.4400T>C (p.Leu1467Ser)	HEATR5A (L1467S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104828	NM_015473.4(HEATR5A):c.4091G>A (p.Arg1364Gln)	HEATR5A (R1364Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104827	NM_015473.4(HEATR5A):c.3938G>C (p.Gly1313Ala)	HEATR5A (G1313A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104826	NM_015473.4(HEATR5A):c.3905G>A (p.Arg1302Gln)	HEATR5A (R1302Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104825	NM_015473.4(HEATR5A):c.3823C>T (p.Arg1275Cys)	HEATR5A (R1275C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104824	NM_015473.4(HEATR5A):c.3754T>G (p.Leu1252Val)	HEATR5A (L1252V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104823	NM_015473.4(HEATR5A):c.3731A>G (p.Asn1244Ser)	HEATR5A (N1244S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104822	NM_015473.4(HEATR5A):c.3286C>A (p.Gln1096Lys)	HEATR5A (Q1096K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104820	NM_015473.4(HEATR5A):c.241A>G (p.Ser81Gly)	HEATR5A (S81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104819	NM_015473.4(HEATR5A):c.2309A>G (p.Glu770Gly)	HEATR5A (E770G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104818	NM_015473.4(HEATR5A):c.2263G>A (p.Gly755Arg)	HEATR5A (G755R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104817	NM_015473.4(HEATR5A):c.2158C>T (p.Pro720Ser)	HEATR5A (P720S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104816	NM_015473.4(HEATR5A):c.205C>T (p.Arg69Cys)	HEATR5A (R69C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104815	NM_015473.4(HEATR5A):c.1992T>G (p.Ser664Arg)	HEATR5A (S664R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104814	NM_015473.4(HEATR5A):c.1864A>G (p.Ile622Val)	HEATR5A (I622V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104813	NM_015473.4(HEATR5A):c.137G>A (p.Arg46Lys)	HEATR5A (R46K)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104812	NM_015473.4(HEATR5A):c.1117C>T (p.Leu373Phe)	HEATR5A (L373F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063324	GRCh37/hg19 14q12-21.2(chr14:29190489-45325177)x1	AKAP6, AP4S1 +48 more	Copy number loss	not specified	GPathogenic
Select item 2684720	GRCh37/hg19 14q12(chr14:31841456-32165895)x3	DTD2, GPR33 +2 more	Copy number gain	not provided	GUncertain significance
Select item 2684718	GRCh37/hg19 14q12(chr14:31796875-32027900)x3	DTD2, GPR33 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644156	NM_015473.4(HEATR5A):c.5026G>A (p.Gly1676Arg)	HEATR5A (G1676R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2610984	NM_015473.4(HEATR5A):c.4680T>A (p.His1560Gln)	HEATR5A (H1560Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601971	NM_015473.4(HEATR5A):c.387A>G (p.Ile129Met)	HEATR5A (I129M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598482	NM_015473.4(HEATR5A):c.6069G>T (p.Lys2023Asn)	HEATR5A (K2023N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597757	NM_015473.4(HEATR5A):c.3344A>G (p.Asp1115Gly)	HEATR5A (D1115G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594112	NM_015473.4(HEATR5A):c.1628G>C (p.Cys543Ser)	HEATR5A (C543S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592883	NM_015473.4(HEATR5A):c.1076G>A (p.Arg359His)	HEATR5A (R359H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570045	NM_015473.4(HEATR5A):c.1126A>G (p.Lys376Glu)	HEATR5A (K376E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2567931	NM_015473.4(HEATR5A):c.277G>A (p.Asp93Asn)	HEATR5A (D93N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560018	NM_015473.4(HEATR5A):c.2003C>T (p.Thr668Ile)	HEATR5A (T668I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559920	NM_015473.4(HEATR5A):c.3593G>T (p.Gly1198Val)	HEATR5A (G1198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553593	NM_015473.4(HEATR5A):c.4540A>C (p.Ser1514Arg)	HEATR5A (S1514R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543267	NM_015473.4(HEATR5A):c.998T>C (p.Phe333Ser)	HEATR5A (F333S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539253	NM_015473.4(HEATR5A):c.5281G>C (p.Gly1761Arg)	HEATR5A (G1761R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536819	NM_015473.4(HEATR5A):c.4466C>T (p.Thr1489Ile)	HEATR5A (T1489I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533150	NM_015473.4(HEATR5A):c.2425G>C (p.Glu809Gln)	HEATR5A (E809Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527511	NM_015473.4(HEATR5A):c.3455A>G (p.Lys1152Arg)	HEATR5A (K1152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527053	NM_015473.4(HEATR5A):c.1721T>C (p.Val574Ala)	HEATR5A (V574A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526469	NM_015473.4(HEATR5A):c.3065G>A (p.Ser1022Asn)	HEATR5A (S1022N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524901	NM_015473.4(HEATR5A):c.1432G>A (p.Val478Met)	HEATR5A (V478M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522408	NM_015473.4(HEATR5A):c.1724G>A (p.Ser575Asn)	HEATR5A (S575N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521635	NM_015473.4(HEATR5A):c.5201T>C (p.Val1734Ala)	HEATR5A (V1734A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519150	NM_015473.4(HEATR5A):c.2090T>C (p.Leu697Pro)	HEATR5A (L697P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518911	NM_015473.4(HEATR5A):c.1625T>C (p.Leu542Pro)	HEATR5A (L542P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517366	NM_015473.4(HEATR5A):c.118A>G (p.Thr40Ala)	HEATR5A (T40A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517281	NM_015473.4(HEATR5A):c.1585G>A (p.Gly529Arg)	HEATR5A (G529R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514092	NM_015473.4(HEATR5A):c.5813C>A (p.Thr1938Asn)	HEATR5A (T1938N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511779	NM_015473.4(HEATR5A):c.3308C>T (p.Ala1103Val)	HEATR5A (A1103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488457	NM_015473.4(HEATR5A):c.5147C>T (p.Thr1716Met)	HEATR5A (T1716M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484823	NM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser)	HEATR5A (L989S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483767	NM_015473.4(HEATR5A):c.5672C>T (p.Pro1891Leu)	HEATR5A (P1891L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481699	NM_015473.4(HEATR5A):c.4273A>G (p.Thr1425Ala)	HEATR5A (T1425A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480081	NM_015473.4(HEATR5A):c.3112G>A (p.Val1038Ile)	HEATR5A (V1038I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470852	NM_015473.4(HEATR5A):c.1106T>C (p.Ile369Thr)	HEATR5A (I369T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469777	NM_015473.4(HEATR5A):c.1495A>C (p.Lys499Gln)	HEATR5A (K499Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467677	NM_015473.4(HEATR5A):c.6022C>T (p.Arg2008Cys)	HEATR5A (R2008C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466723	NM_015473.4(HEATR5A):c.3194A>G (p.His1065Arg)	HEATR5A (H1065R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464617	NM_015473.4(HEATR5A):c.1898T>C (p.Leu633Pro)	HEATR5A (L633P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464235	NM_015473.4(HEATR5A):c.4763C>G (p.Ala1588Gly)	HEATR5A (A1588G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460395	NM_015473.4(HEATR5A):c.629T>C (p.Phe210Ser)	HEATR5A (F210S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456895	NM_015473.4(HEATR5A):c.1298A>G (p.His433Arg)	HEATR5A (H433R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411867	NM_015473.4(HEATR5A):c.1072C>T (p.Arg358Cys)	HEATR5A (R358C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410342	NM_015473.4(HEATR5A):c.5500C>A (p.Leu1834Ile)	HEATR5A (L1834I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408360	NM_015473.4(HEATR5A):c.4721G>A (p.Arg1574His)	HEATR5A (R1574H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407728	NM_015473.4(HEATR5A):c.111G>C (p.Leu37Phe)	HEATR5A (L37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406371	NM_015473.4(HEATR5A):c.3874G>T (p.Gly1292Cys)	HEATR5A (G1292C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2399929	NM_015473.4(HEATR5A):c.5165T>C (p.Leu1722Ser)	HEATR5A (L1722S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2393956	NM_015473.4(HEATR5A):c.1916A>G (p.Gln639Arg)	HEATR5A (Q639R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392700	NM_015473.4(HEATR5A):c.5265A>G (p.Ile1755Met)	HEATR5A (I1755M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2392244	NM_015473.4(HEATR5A):c.224A>G (p.Asn75Ser)	HEATR5A (N75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387929	NM_015473.4(HEATR5A):c.5819C>G (p.Ala1940Gly)	HEATR5A (A1940G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386113	NM_015473.4(HEATR5A):c.5794G>A (p.Val1932Ile)	HEATR5A (V1932I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382250	NM_015473.4(HEATR5A):c.1919G>A (p.Arg640His)	HEATR5A (R640H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2377166	NM_015473.4(HEATR5A):c.593C>T (p.Ala198Val)	HEATR5A (A198V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372533	NM_015473.4(HEATR5A):c.2366C>G (p.Ser789Cys)	HEATR5A (S789C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370788	NM_015473.4(HEATR5A):c.3523A>G (p.Lys1175Glu)	HEATR5A (K1175E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352572	NM_015473.4(HEATR5A):c.794G>A (p.Arg265His)	HEATR5A (R265H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352564	NM_015473.4(HEATR5A):c.4634G>A (p.Gly1545Glu)	HEATR5A (G1545E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351969	NM_015473.4(HEATR5A):c.3980C>T (p.Ala1327Val)	HEATR5A (A1327V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351339	NM_015473.4(HEATR5A):c.3904C>G (p.Arg1302Gly)	HEATR5A (R1302G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345552	NM_015473.4(HEATR5A):c.4438G>A (p.Glu1480Lys)	HEATR5A (E1480K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342132	NM_015473.4(HEATR5A):c.4007C>T (p.Thr1336Ile)	HEATR5A (T1336I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337800	NM_015473.4(HEATR5A):c.4397T>C (p.Leu1466Pro)	HEATR5A (L1466P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337243	NM_015473.4(HEATR5A):c.547A>G (p.Arg183Gly)	HEATR5A (R183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336824	NM_015473.4(HEATR5A):c.2803C>T (p.His935Tyr)	HEATR5A (H935Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336400	NM_015473.4(HEATR5A):c.5102C>G (p.Pro1701Arg)	HEATR5A (P1701R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333477	NM_015473.4(HEATR5A):c.4882A>C (p.Ile1628Leu)	HEATR5A (I1628L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331015	NM_015473.4(HEATR5A):c.3092C>T (p.Ser1031Phe)	HEATR5A (S1031F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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