ClinVar for Gene (Select 57493) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283934	NM_020733.2(HEG1):c.1616G>A (p.Arg539His)	HEG1 (R539H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283933	NM_020733.2(HEG1):c.2147C>T (p.Pro716Leu)	HEG1 (P716L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283931	NM_020733.2(HEG1):c.3227G>T (p.Arg1076Ile)	HEG1 (R1076I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283930	NM_020733.2(HEG1):c.328A>G (p.Lys110Glu)	HEG1 (K110E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283929	NM_020733.2(HEG1):c.3188A>G (p.Asn1063Ser)	HEG1 (N1063S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283928	NM_020733.2(HEG1):c.275A>G (p.Gln92Arg)	HEG1, LOC129937422 (Q92R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283927	NM_020733.2(HEG1):c.4014T>G (p.Asn1338Lys)	HEG1 (N1338K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283926	NM_020733.2(HEG1):c.1100C>T (p.Thr367Met)	HEG1 (T367M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283925	NM_020733.2(HEG1):c.2714G>A (p.Arg905Gln)	HEG1 (R905Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3283924	NM_020733.2(HEG1):c.1547C>T (p.Ser516Leu)	HEG1 (S516L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283923	NM_020733.2(HEG1):c.2785A>G (p.Thr929Ala)	HEG1 (T929A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283922	NM_020733.2(HEG1):c.2536A>T (p.Ile846Phe)	HEG1 (I846F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105052	NM_020733.2(HEG1):c.962C>T (p.Ser321Phe)	HEG1 (S321F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105051	NM_020733.2(HEG1):c.607T>A (p.Leu203Ile)	HEG1 (L203I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105050	NM_020733.2(HEG1):c.596A>G (p.Gln199Arg)	HEG1 (Q199R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105049	NM_020733.2(HEG1):c.3992A>G (p.Tyr1331Cys)	HEG1 (Y1331C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105048	NM_020733.2(HEG1):c.3518C>T (p.Ala1173Val)	HEG1 (A1173V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105047	NM_020733.2(HEG1):c.2894C>G (p.Ser965Cys)	HEG1 (S965C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105046	NM_020733.2(HEG1):c.2795G>T (p.Gly932Val)	HEG1 (G932V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105045	NM_020733.2(HEG1):c.2684C>T (p.Thr895Ile)	HEG1 (T895I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105044	NM_020733.2(HEG1):c.2611A>G (p.Ile871Val)	HEG1 (I871V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105043	NM_020733.2(HEG1):c.2522C>T (p.Thr841Ile)	HEG1 (T841I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105041	NM_020733.2(HEG1):c.2432C>T (p.Thr811Ile)	HEG1 (T811I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105040	NM_020733.2(HEG1):c.2413T>A (p.Ser805Thr)	HEG1 (S805T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105039	NM_020733.2(HEG1):c.229A>C (p.Thr77Pro)	HEG1 (T77P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105038	NM_020733.2(HEG1):c.2131C>G (p.Pro711Ala)	HEG1 (P711A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105037	NM_020733.2(HEG1):c.2084C>T (p.Thr695Ile)	HEG1 (T695I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105036	NM_020733.2(HEG1):c.205C>T (p.Pro69Ser)	HEG1 (P69S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105035	NM_020733.2(HEG1):c.1880T>C (p.Val627Ala)	HEG1 (V627A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105034	NM_020733.2(HEG1):c.187G>A (p.Glu63Lys)	HEG1 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105033	NM_020733.2(HEG1):c.1675T>C (p.Ser559Pro)	HEG1 (S559P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105032	NM_020733.2(HEG1):c.1639A>G (p.Thr547Ala)	HEG1 (T547A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3105031	NM_020733.2(HEG1):c.1591G>T (p.Ala531Ser)	HEG1 (A531S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062736	GRCh37/hg19 3q21.2-21.3(chr3:124119718-127457671)x1	ABTB1, ALDH1L1 +26 more	Copy number loss	not specified	GUncertain significance
Select item 2654091	NM_020733.2(HEG1):c.816C>T (p.Thr272=)	HEG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654090	NM_020733.2(HEG1):c.3505C>T (p.Arg1169Trp)	HEG1, LOC126806797 (R1169W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2654089	NM_020733.2(HEG1):c.4044G>A (p.Pro1348=)	HEG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2617174	NM_020733.2(HEG1):c.3167A>C (p.Gln1056Pro)	HEG1 (Q1056P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605961	NM_020733.2(HEG1):c.2842C>T (p.Pro948Ser)	HEG1 (P948S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2599292	NM_020733.2(HEG1):c.490G>A (p.Ala164Thr)	HEG1 (A164T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2596813	NM_020733.2(HEG1):c.938A>G (p.Asn313Ser)	HEG1 (N313S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2592385	NM_020733.2(HEG1):c.1672T>G (p.Ser558Ala)	HEG1 (S558A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561019	NM_020733.2(HEG1):c.3092C>T (p.Ser1031Leu)	HEG1 (S1031L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2552977	NM_020733.2(HEG1):c.3416C>T (p.Thr1139Met)	HEG1, LOC126806797 (T1139M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543579	NM_020733.2(HEG1):c.76G>C (p.Ala26Pro)	HEG1 (A26P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539822	NM_020733.2(HEG1):c.1574G>A (p.Arg525His)	HEG1 (R525H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529014	NM_020733.2(HEG1):c.1583G>A (p.Arg528His)	HEG1 (R528H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527650	NM_020733.2(HEG1):c.1411G>A (p.Gly471Arg)	HEG1 (G471R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525362	NM_020733.2(HEG1):c.3851T>C (p.Ile1284Thr)	HEG1 (I1284T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521120	NM_020733.2(HEG1):c.3796A>G (p.Ile1266Val)	HEG1 (I1266V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518606	NM_020733.2(HEG1):c.296C>A (p.Ala99Asp)	HEG1, LOC129937422 (A99D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508395	NM_020733.2(HEG1):c.1339G>A (p.Ala447Thr)	HEG1 (A447T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495362	NM_020733.2(HEG1):c.122C>T (p.Ala41Val)	HEG1, LOC129937423 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482455	NM_020733.2(HEG1):c.1697G>A (p.Arg566Gln)	HEG1 (R566Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479471	NM_020733.2(HEG1):c.3438G>C (p.Arg1146Ser)	HEG1, LOC126806797 (R1146S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465525	NM_020733.2(HEG1):c.4028G>A (p.Arg1343Gln)	HEG1 (R1343Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462185	NM_020733.2(HEG1):c.1246T>A (p.Ser416Thr)	HEG1 (S416T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457840	NM_020733.2(HEG1):c.4033G>A (p.Gly1345Arg)	HEG1 (G1345R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2427161	NC_000003.11:g.(?_123003455)_(125313644_?)dup	ADCY5, CCDC14 +12 more	Duplication	Aortic aneurysm, familial thoracic 7	GUncertain significance
Select item 2423002	NC_000003.11:g.(?_121489192)_(125313644_?)dup	CSTA, ADCY5 +32 more	Duplication	Familial hypocalciuric hypercalcemia +1 more	GUncertain significance
Select item 2411897	NM_020733.2(HEG1):c.217C>T (p.Arg73Cys)	HEG1 (R73C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403133	NM_020733.2(HEG1):c.3998C>G (p.Pro1333Arg)	HEG1 (P1333R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2397110	NM_020733.2(HEG1):c.3908G>A (p.Arg1303His)	HEG1 (R1303H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396641	NM_020733.2(HEG1):c.4015C>A (p.Pro1339Thr)	HEG1 (P1339T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387210	NM_020733.2(HEG1):c.1856C>T (p.Ala619Val)	HEG1 (A619V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381538	NM_020733.2(HEG1):c.3611C>T (p.Ser1204Leu)	HEG1 (S1204L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376485	NM_020733.2(HEG1):c.1573C>T (p.Arg525Cys)	HEG1 (R525C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2376237	NM_020733.2(HEG1):c.3536G>A (p.Arg1179Gln)	HEG1 (R1179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364176	NM_020733.2(HEG1):c.2545A>T (p.Thr849Ser)	HEG1 (T849S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364140	NM_020733.2(HEG1):c.268G>C (p.Ala90Pro)	HEG1, LOC129937422 (A90P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364032	NM_020733.2(HEG1):c.151G>A (p.Gly51Arg)	HEG1, LOC129937423 (G51R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353297	NM_020733.2(HEG1):c.413C>T (p.Ser138Phe)	HEG1 (S138F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351534	NM_020733.2(HEG1):c.3233T>G (p.Phe1078Cys)	HEG1 (F1078C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350300	NM_020733.2(HEG1):c.268G>A (p.Ala90Thr)	HEG1, LOC129937422 (A90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349629	NM_020733.2(HEG1):c.2676A>C (p.Gln892His)	HEG1 (Q892H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2347051	NM_020733.2(HEG1):c.3799G>A (p.Ala1267Thr)	HEG1 (A1267T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330788	NM_020733.2(HEG1):c.818C>T (p.Thr273Met)	HEG1 (T273M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2321608	NM_020733.2(HEG1):c.1199C>G (p.Ser400Cys)	HEG1 (S400C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299601	NM_020733.2(HEG1):c.1639A>T (p.Thr547Ser)	HEG1 (T547S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298222	NM_020733.2(HEG1):c.3850A>G (p.Ile1284Val)	HEG1 (I1284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296867	NM_020733.2(HEG1):c.3074A>G (p.Asp1025Gly)	HEG1 (D1025G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292706	NM_020733.2(HEG1):c.2505A>T (p.Leu835Phe)	HEG1 (L835F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292634	NM_020733.2(HEG1):c.881C>T (p.Ala294Val)	HEG1 (A294V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274264	NM_020733.2(HEG1):c.1742T>G (p.Val581Gly)	HEG1 (V581G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269410	NM_020733.2(HEG1):c.4103C>T (p.Pro1368Leu)	HEG1 (P1368L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267193	NM_020733.2(HEG1):c.711G>T (p.Glu237Asp)	HEG1 (E237D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258655	NM_020733.2(HEG1):c.2500A>G (p.Asn834Asp)	HEG1 (N834D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257378	NM_020733.2(HEG1):c.2105T>C (p.Leu702Pro)	HEG1 (L702P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237960	NM_020733.2(HEG1):c.4097A>G (p.Tyr1366Cys)	HEG1 (Y1366C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229470	NM_020733.2(HEG1):c.88A>C (p.Thr30Pro)	HEG1 (T30P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216209	NM_020733.2(HEG1):c.244T>C (p.Tyr82His)	HEG1, LOC129937422 (Y82H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2209910	NM_020733.2(HEG1):c.1648G>A (p.Asp550Asn)	HEG1 (D550N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206755	NM_020733.2(HEG1):c.767C>T (p.Ser256Leu)	HEG1 (S256L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183989	Single allele	ABTB1, ADCY5 +69 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 775904	NM_020733.2(HEG1):c.780G>A (p.Pro260=)	HEG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 775903	NM_020733.2(HEG1):c.1684A>T (p.Thr562Ser)	HEG1 (T562S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 775902	NM_020733.2(HEG1):c.2870C>T (p.Thr957Met)	HEG1 (T957M)	Single nucleotide variant (missense variant)	not provided	GBenign

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