HEATR5A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59932	GRCh38/hg38 14q11.2-21.1(chr14:20000611-38984415)x3	LOC130055392, LOC130055393 +780 more	Copy number gain	See cases	GPathogenic
Select item 155119	GRCh38/hg38 14q11.2-21.2(chr14:20022693-44093672)x3	ABHD4, ACIN1 +814 more	Copy number gain	See cases	GPathogenic
Select item 155681	GRCh38/hg38 14q11.2-21.3(chr14:20043513-48642042)x3	OR10G2, OR10G3 +859 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC125048431, LOC125048432 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	FSCB, FUT8 +3275 more	Copy number gain	See cases	GPathogenic
Select item 57745	GRCh38/hg38 14q11.2-21.2(chr14:20196945-45284802)x1	LOC112214170, LOC112214171 +840 more	Copy number loss	See cases	GPathogenic
Select item 57750	GRCh38/hg38 14q11.2-21.1(chr14:23548960-41983402)x1	MIR4503, MIR624 +399 more	Copy number loss	See cases	GPathogenic
Select item 154183	GRCh38/hg38 14q12-13.1(chr14:28803988-33234266)x1	AKAP6, AP4S1 +73 more	Copy number loss	See cases	GPathogenic
Select item 146008	GRCh38/hg38 14q12-21.1(chr14:30382554-37712341)x1	AKAP6, AP4S1 +179 more	Copy number loss	See cases	GPathogenic
Select item 58523	GRCh38/hg38 14q12-21.2(chr14:30670314-44990595)x3	INSM2, KLHL28 +237 more	Copy number gain	See cases	GPathogenic
Select item 154996	GRCh38/hg38 14q12-21.2(chr14:30792271-44685131)x1	LOC126861917, LOC126861918 +225 more	Copy number loss	See cases	GPathogenic
Select item 560123	Single allele	ARHGAP5-AS1, DTD2 +35 more	Deletion	Mitochondrial complex I deficiency	GUncertain significance
Select item 2297924	NM_015473.4(HEATR5A):c.6109T>C (p.Ser2037Pro)	HEATR5A (S2037P)	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 2292442	NM_015473.4(HEATR5A):c.6023G>A (p.Arg2008His)	HEATR5A (R2008H)	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 3104840	NM_015473.4(HEATR5A):c.6017A>T (p.Lys2006Ile)	HEATR5A (K2006I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207913	NM_015473.4(HEATR5A):c.5993T>C (p.Leu1998Ser)	HEATR5A (L1998S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289677	NM_015473.4(HEATR5A):c.5938G>C (p.Ala1980Pro)	HEATR5A (A1980P)	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 2387929	NM_015473.4(HEATR5A):c.5819C>G (p.Ala1940Gly)	HEATR5A (A1940G)	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 2386113	NM_015473.4(HEATR5A):c.5794G>A (p.Val1932Ile)	HEATR5A (V1932I)	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 2483767	NM_015473.4(HEATR5A):c.5672C>T (p.Pro1891Leu)	HEATR5A (P1891L)	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 2255913	NM_015473.4(HEATR5A):c.5405C>T (p.Thr1802Ile)	HEATR5A (T1802I)	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 2212024	NM_015473.4(HEATR5A):c.5330C>T (p.Ser1777Leu)	HEATR5A (S1777L)	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 2539253	NM_015473.4(HEATR5A):c.5281G>C (p.Gly1761Arg)	HEATR5A (G1761R)	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 2521635	NM_015473.4(HEATR5A):c.5201T>C (p.Val1734Ala)	HEATR5A (V1734A)	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 2488457	NM_015473.4(HEATR5A):c.5147C>T (p.Thr1716Met)	HEATR5A (T1716M)	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 2644156	NM_015473.4(HEATR5A):c.5026G>A (p.Gly1676Arg)	HEATR5A (G1676R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2315862	NM_015473.4(HEATR5A):c.5012A>C (p.Glu1671Ala)	HEATR5A (E1671A)	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 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 2464235	NM_015473.4(HEATR5A):c.4763C>G (p.Ala1588Gly)	HEATR5A (A1588G)	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 2610984	NM_015473.4(HEATR5A):c.4680T>A (p.His1560Gln)	HEATR5A (H1560Q)	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 2273232	NM_015473.4(HEATR5A):c.4667C>G (p.Thr1556Ser)	HEATR5A (T1556S)	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 2553593	NM_015473.4(HEATR5A):c.4540A>C (p.Ser1514Arg)	HEATR5A (S1514R)	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 2345552	NM_015473.4(HEATR5A):c.4438G>A (p.Glu1480Lys)	HEATR5A (E1480K)	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 2337800	NM_015473.4(HEATR5A):c.4397T>C (p.Leu1466Pro)	HEATR5A (L1466P)	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 2279345	NM_015473.4(HEATR5A):c.4172G>T (p.Ser1391Ile)	HEATR5A (S1391I)	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 2284872	NM_015473.4(HEATR5A):c.4057G>A (p.Ala1353Thr)	HEATR5A (A1353T)	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 2351969	NM_015473.4(HEATR5A):c.3980C>T (p.Ala1327Val)	HEATR5A (A1327V)	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 2351339	NM_015473.4(HEATR5A):c.3904C>G (p.Arg1302Gly)	HEATR5A (R1302G)	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 2319315	NM_015473.4(HEATR5A):c.3826A>G (p.Met1276Val)	HEATR5A (M1276V)	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 2235253	NM_015473.4(HEATR5A):c.3800T>C (p.Val1267Ala)	HEATR5A (V1267A)	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 2296642	NM_015473.4(HEATR5A):c.3680T>C (p.Val1227Ala)	HEATR5A (V1227A)	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 2242229	NM_015473.4(HEATR5A):c.3578T>C (p.Met1193Thr)	HEATR5A (M1193T)	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 2527511	NM_015473.4(HEATR5A):c.3455A>G (p.Lys1152Arg)	HEATR5A (K1152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212320	NM_015473.4(HEATR5A):c.3454A>G (p.Lys1152Glu)	HEATR5A (K1152E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227803	NM_015473.4(HEATR5A):c.3400G>A (p.Ala1134Thr)	HEATR5A (A1134T)	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 2511779	NM_015473.4(HEATR5A):c.3308C>T (p.Ala1103Val)	HEATR5A (A1103V)	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 2466723	NM_015473.4(HEATR5A):c.3194A>G (p.His1065Arg)	HEATR5A (H1065R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327911	NM_015473.4(HEATR5A):c.3151G>A (p.Ala1051Thr)	HEATR5A (A1051T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237810	NM_015473.4(HEATR5A):c.3130G>A (p.Asp1044Asn)	HEATR5A (D1044N)	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 2331015	NM_015473.4(HEATR5A):c.3092C>T (p.Ser1031Phe)	HEATR5A (S1031F)	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 2484823	NM_015473.4(HEATR5A):c.2966T>C (p.Leu989Ser)	HEATR5A (L989S)	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 2274020	NM_015473.4(HEATR5A):c.2771A>G (p.His924Arg)	HEATR5A (H924R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314102	NM_015473.4(HEATR5A):c.2609C>G (p.Pro870Arg)	HEATR5A (P870R)	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 2372533	NM_015473.4(HEATR5A):c.2366C>G (p.Ser789Cys)	HEATR5A (S789C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239281	NM_015473.4(HEATR5A):c.2310G>T (p.Glu770Asp)	HEATR5A (E770D)	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 2207912	NM_015473.4(HEATR5A):c.2208G>C (p.Glu736Asp)	HEATR5A (E736D)	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 2519150	NM_015473.4(HEATR5A):c.2090T>C (p.Leu697Pro)	HEATR5A (L697P)	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 3104815	NM_015473.4(HEATR5A):c.1992T>G (p.Ser664Arg)	HEATR5A (S664R)	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 2393956	NM_015473.4(HEATR5A):c.1916A>G (p.Gln639Arg)	HEATR5A (Q639R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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