ClinVar for Gene (Select 54497) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283830	NM_019024.3(HEATR5B):c.545C>G (p.Ala182Gly)	HEATR5B (A182G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283829	NM_019024.3(HEATR5B):c.4913G>A (p.Gly1638Asp)	HEATR5B (G1638D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283828	NM_019024.3(HEATR5B):c.1482G>C (p.Leu494Phe)	HEATR5B (L494F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283827	NM_019024.3(HEATR5B):c.5582T>C (p.Leu1861Pro)	HEATR5B (L1861P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283826	NM_019024.3(HEATR5B):c.5579T>A (p.Met1860Lys)	HEATR5B (M1860K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283825	NM_019024.3(HEATR5B):c.4189G>A (p.Asp1397Asn)	HEATR5B (D1397N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283824	NM_019024.3(HEATR5B):c.1435C>G (p.Gln479Glu)	HEATR5B (Q479E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283823	NM_019024.3(HEATR5B):c.1831C>T (p.Arg611Cys)	HEATR5B (R611C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283822	NM_019024.3(HEATR5B):c.4357G>A (p.Asp1453Asn)	HEATR5B (D1453N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283821	NM_019024.3(HEATR5B):c.3625A>G (p.Ser1209Gly)	HEATR5B (S1209G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283820	NM_019024.3(HEATR5B):c.2965C>A (p.Pro989Thr)	HEATR5B (P989T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283819	NM_019024.3(HEATR5B):c.1577A>T (p.Lys526Ile)	HEATR5B (K526I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283818	NM_019024.3(HEATR5B):c.1174G>A (p.Val392Ile)	HEATR5B (V392I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283817	NM_019024.3(HEATR5B):c.2453G>A (p.Arg818His)	HEATR5B (R818H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283816	NM_019024.3(HEATR5B):c.451C>A (p.Gln151Lys)	HEATR5B (Q151K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283815	NM_019024.3(HEATR5B):c.1468C>T (p.Arg490Trp)	HEATR5B (R490W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283814	NM_019024.3(HEATR5B):c.5839A>G (p.Ile1947Val)	HEATR5B (I1947V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283813	NM_019024.3(HEATR5B):c.5281A>G (p.Ile1761Val)	HEATR5B (I1761V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283812	NM_019024.3(HEATR5B):c.3657A>T (p.Lys1219Asn)	HEATR5B (K1219N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283810	NM_019024.3(HEATR5B):c.1327T>C (p.Ser443Pro)	HEATR5B (S443P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283809	NM_019024.3(HEATR5B):c.4952C>G (p.Thr1651Ser)	HEATR5B (T1651S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283808	NM_019024.3(HEATR5B):c.6035A>G (p.His2012Arg)	HEATR5B (H2012R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104868	NM_019024.3(HEATR5B):c.865G>A (p.Gly289Ser)	HEATR5B (G289S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104867	NM_019024.3(HEATR5B):c.817C>G (p.Leu273Val)	HEATR5B (L273V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104866	NM_019024.3(HEATR5B):c.73T>C (p.Phe25Leu)	HEATR5B (F25L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104865	NM_019024.3(HEATR5B):c.6155G>A (p.Arg2052Lys)	HEATR5B (R2052K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104864	NM_019024.3(HEATR5B):c.5852C>T (p.Ala1951Val)	HEATR5B (A1951V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104863	NM_019024.3(HEATR5B):c.5458A>T (p.Met1820Leu)	HEATR5B (M1820L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104862	NM_019024.3(HEATR5B):c.5417G>A (p.Ser1806Asn)	HEATR5B (S1806N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104859	NM_019024.3(HEATR5B):c.5218C>G (p.His1740Asp)	HEATR5B (H1740D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104858	NM_019024.3(HEATR5B):c.518C>T (p.Ser173Phe)	HEATR5B (S173F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104857	NM_019024.3(HEATR5B):c.4889A>G (p.His1630Arg)	HEATR5B (H1630R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104856	NM_019024.3(HEATR5B):c.4848G>T (p.Gln1616His)	HEATR5B (Q1616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104855	NM_019024.3(HEATR5B):c.4730C>T (p.Ala1577Val)	HEATR5B (A1577V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104854	NM_019024.3(HEATR5B):c.442G>A (p.Ala148Thr)	HEATR5B (A148T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104853	NM_019024.3(HEATR5B):c.4217C>G (p.Ser1406Cys)	HEATR5B (S1406C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104852	NM_019024.3(HEATR5B):c.4091C>T (p.Ala1364Val)	HEATR5B (A1364V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104851	NM_019024.3(HEATR5B):c.4057G>A (p.Ala1353Thr)	HEATR5B (A1353T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104850	NM_019024.3(HEATR5B):c.3986C>G (p.Pro1329Arg)	HEATR5B (P1329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104849	NM_019024.3(HEATR5B):c.3848C>T (p.Pro1283Leu)	HEATR5B (P1283L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104848	NM_019024.3(HEATR5B):c.3509A>G (p.His1170Arg)	HEATR5B (H1170R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104847	NM_019024.3(HEATR5B):c.3184G>C (p.Val1062Leu)	HEATR5B (V1062L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104846	NM_019024.3(HEATR5B):c.2116T>A (p.Ser706Thr)	HEATR5B (S706T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104845	NM_019024.3(HEATR5B):c.208A>G (p.Lys70Glu)	HEATR5B (K70E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104844	NM_019024.3(HEATR5B):c.190C>T (p.Pro64Ser)	HEATR5B (P64S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104843	NM_019024.3(HEATR5B):c.1441A>G (p.Thr481Ala)	HEATR5B (T481A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104842	NM_019024.3(HEATR5B):c.1073C>T (p.Ser358Phe)	HEATR5B (S358F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062647	GRCh37/hg19 2p23.1-21(chr2:30814984-42798684)x1	ARHGEF33, ATL2 +52 more	Copy number loss	not specified	GPathogenic
Select item 3062619	GRCh37/hg19 2p22.2(chr2:36971076-38294436)x3	CDC42EP3, CEBPZ +10 more	Copy number gain	not specified	GUncertain significance
Select item 2650830	NM_019024.3(HEATR5B):c.1650G>A (p.Gln550=)	HEATR5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650829	NM_019024.3(HEATR5B):c.2904G>A (p.Pro968=)	HEATR5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650828	NM_019024.3(HEATR5B):c.3756C>T (p.Ala1252=)	HEATR5B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2611103	NM_019024.3(HEATR5B):c.6110C>T (p.Thr2037Ile)	HEATR5B (T2037I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604143	NM_019024.3(HEATR5B):c.638C>G (p.Thr213Ser)	HEATR5B (T213S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604017	NM_019024.3(HEATR5B):c.3841C>G (p.Arg1281Gly)	HEATR5B (R1281G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594911	NM_019024.3(HEATR5B):c.3055G>A (p.Ala1019Thr)	HEATR5B (A1019T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593565	NM_019024.3(HEATR5B):c.4445G>A (p.Arg1482His)	HEATR5B (R1482H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589322	NM_019024.3(HEATR5B):c.5636A>T (p.Gln1879Leu)	HEATR5B (Q1879L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588580	NM_019024.3(HEATR5B):c.5750G>A (p.Arg1917His)	HEATR5B (R1917H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2565151	NM_019024.3(HEATR5B):c.1171G>A (p.Ala391Thr)	HEATR5B (A391T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549452	NM_019024.3(HEATR5B):c.3198C>G (p.Ser1066Arg)	HEATR5B (S1066R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548027	NM_019024.3(HEATR5B):c.5794G>T (p.Val1932Phe)	HEATR5B (V1932F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547850	NM_019024.3(HEATR5B):c.5887G>A (p.Val1963Ile)	HEATR5B (V1963I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2546650	NM_019024.3(HEATR5B):c.4634C>T (p.Thr1545Met)	HEATR5B (T1545M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545746	NM_019024.3(HEATR5B):c.4537A>G (p.Thr1513Ala)	HEATR5B (T1513A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537432	NM_019024.3(HEATR5B):c.5382A>G (p.Ile1794Met)	HEATR5B (I1794M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535883	NM_019024.3(HEATR5B):c.995C>G (p.Ser332Cys)	HEATR5B (S332C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532168	NM_019024.3(HEATR5B):c.3559C>T (p.His1187Tyr)	HEATR5B (H1187Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526118	NM_019024.3(HEATR5B):c.3251G>A (p.Arg1084Gln)	HEATR5B (R1084Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525199	NM_019024.3(HEATR5B):c.5491T>G (p.Trp1831Gly)	HEATR5B (W1831G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2524387	NM_019024.3(HEATR5B):c.5788A>G (p.Ile1930Val)	HEATR5B (I1930V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515167	NM_019024.3(HEATR5B):c.5410C>T (p.Pro1804Ser)	HEATR5B (P1804S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506452	NM_019024.3(HEATR5B):c.4905+3A>G	HEATR5B	Single nucleotide variant (intron variant)	Cerebellar atrophy with seizures and variable developmental delay	GUncertain significance
Select item 2488582	NM_019024.3(HEATR5B):c.1796G>A (p.Gly599Asp)	HEATR5B (G599D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473936	NM_019024.3(HEATR5B):c.340G>T (p.Ala114Ser)	HEATR5B (A114S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464293	NM_019024.3(HEATR5B):c.5594C>T (p.Ala1865Val)	HEATR5B (A1865V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462147	NM_019024.3(HEATR5B):c.1228A>G (p.Ile410Val)	HEATR5B (I410V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457262	NM_019024.3(HEATR5B):c.1939A>G (p.Met647Val)	HEATR5B (M647V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2429105	NM_019024.3(HEATR5B):c.1615C>T (p.Arg539Ter)	HEATR5B (R539*)	Single nucleotide variant (nonsense)	Neurological syndrome with pontocerebellar hypoplasia	GLikely pathogenic
Select item 2410026	NM_019024.3(HEATR5B):c.4040G>C (p.Gly1347Ala)	HEATR5B (G1347A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402306	NM_019024.3(HEATR5B):c.3605T>C (p.Met1202Thr)	HEATR5B (M1202T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2395754	NM_019024.3(HEATR5B):c.6115G>A (p.Val2039Ile)	HEATR5B (V2039I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393594	NM_019024.3(HEATR5B):c.4658C>T (p.Ala1553Val)	HEATR5B (A1553V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390410	NM_019024.3(HEATR5B):c.2137C>G (p.Leu713Val)	HEATR5B (L713V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2386393	NM_019024.3(HEATR5B):c.5078G>A (p.Cys1693Tyr)	HEATR5B (C1693Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364531	NM_019024.3(HEATR5B):c.826A>G (p.Thr276Ala)	HEATR5B (T276A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346323	NM_019024.3(HEATR5B):c.229G>A (p.Ala77Thr)	HEATR5B (A77T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345525	NM_019024.3(HEATR5B):c.4869C>G (p.Asp1623Glu)	HEATR5B (D1623E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340487	NM_019024.3(HEATR5B):c.6160C>T (p.Pro2054Ser)	HEATR5B (P2054S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337088	NM_019024.3(HEATR5B):c.4681C>T (p.Arg1561Cys)	HEATR5B (R1561C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335499	NM_019024.3(HEATR5B):c.4848G>C (p.Gln1616His)	HEATR5B (Q1616H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327839	NM_019024.3(HEATR5B):c.1702T>A (p.Ser568Thr)	HEATR5B (S568T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321650	NM_019024.3(HEATR5B):c.5389G>A (p.Ala1797Thr)	HEATR5B (A1797T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2320628	NM_019024.3(HEATR5B):c.5148G>A (p.Met1716Ile)	HEATR5B (M1716I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310842	NM_019024.3(HEATR5B):c.2843C>A (p.Ser948Tyr)	HEATR5B (S948Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305756	NM_019024.3(HEATR5B):c.35A>C (p.Glu12Ala)	HEATR5B (E12A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303196	NM_019024.3(HEATR5B):c.6080C>T (p.Ala2027Val)	HEATR5B (A2027V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282916	NM_019024.3(HEATR5B):c.1088C>T (p.Ala363Val)	HEATR5B (A363V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278420	NM_019024.3(HEATR5B):c.4786A>G (p.Ile1596Val)	HEATR5B (I1596V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276089	NM_019024.3(HEATR5B):c.1867G>C (p.Ala623Pro)	HEATR5B (A623P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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