ClinVar for Gene (Select 25831) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3283859	NM_015382.4(HECTD1):c.4279G>T (p.Val1427Phe)	HECTD1 (V1380F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283858	NM_015382.4(HECTD1):c.1651A>G (p.Met551Val)	HECTD1 (M551V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283857	NM_015382.4(HECTD1):c.3154G>C (p.Val1052Leu)	HECTD1 (V1052L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283856	NM_015382.4(HECTD1):c.4876A>G (p.Thr1626Ala)	HECTD1 (T1579A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283855	NM_015382.4(HECTD1):c.5153C>G (p.Ser1718Cys)	HECTD1 (S1671C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283854	NM_015382.4(HECTD1):c.2365G>C (p.Val789Leu)	HECTD1 (V789L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283853	NM_015382.4(HECTD1):c.4241A>G (p.His1414Arg)	HECTD1 (H1367R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283852	NM_015382.4(HECTD1):c.5767G>T (p.Ala1923Ser)	HECTD1 (A1876S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283850	NM_015382.4(HECTD1):c.4117T>A (p.Ser1373Thr)	HECTD1 (S1373T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283849	NM_015382.4(HECTD1):c.4028T>C (p.Val1343Ala)	HECTD1 (V1343A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283848	NM_015382.4(HECTD1):c.4024A>T (p.Thr1342Ser)	HECTD1 (T1342S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283847	NM_015382.4(HECTD1):c.5779C>T (p.Arg1927Cys)	HECTD1 (R1880C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283846	NM_015382.4(HECTD1):c.6709G>A (p.Glu2237Lys)	HECTD1 (E2190K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283845	NM_015382.4(HECTD1):c.6861T>G (p.Ile2287Met)	HECTD1 (I2287M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283844	NM_015382.4(HECTD1):c.5624T>C (p.Met1875Thr)	HECTD1 (M1828T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243950	NC_000014.8:g.(?_30046444)_(32635573_?)del	AP4S1, ARHGAP5 +10 more	Deletion	Spastic paraplegia	GPathogenic
Select item 3104932	NM_015382.4(HECTD1):c.6863A>G (p.Tyr2288Cys)	HECTD1 (Y2288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104931	NM_015382.4(HECTD1):c.6302G>A (p.Arg2101Gln)	HECTD1 (R2054Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104930	NM_015382.4(HECTD1):c.617C>G (p.Ala206Gly)	HECTD1 (A206G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104929	NM_015382.4(HECTD1):c.5573A>G (p.Asn1858Ser)	HECTD1 (N1811S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104928	NM_015382.4(HECTD1):c.5483C>T (p.Thr1828Met)	HECTD1 (T1828M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104927	NM_015382.4(HECTD1):c.5139A>T (p.Gln1713His)	HECTD1 (Q1713H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104926	NM_015382.4(HECTD1):c.4726A>G (p.Asn1576Asp)	HECTD1 (N1576D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104924	NM_015382.4(HECTD1):c.2923A>G (p.Ile975Val)	HECTD1 (I975V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104923	NM_015382.4(HECTD1):c.2794A>G (p.Met932Val)	HECTD1 (M932V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104922	NM_015382.4(HECTD1):c.2706T>A (p.Asp902Glu)	HECTD1 (D902E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104921	NM_015382.4(HECTD1):c.2693T>C (p.Val898Ala)	HECTD1 (V898A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104920	NM_015382.4(HECTD1):c.2625T>G (p.Asn875Lys)	HECTD1 (N875K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104917	NM_015382.4(HECTD1):c.2501G>A (p.Arg834Gln)	HECTD1 (R834Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104916	NM_015382.4(HECTD1):c.1873T>C (p.Ser625Pro)	HECTD1 (S625P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104915	NM_015382.4(HECTD1):c.1666T>C (p.Ser556Pro)	HECTD1 (S556P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104914	NM_015382.4(HECTD1):c.1246T>C (p.Cys416Arg)	HECTD1 (C416R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104913	NM_015382.4(HECTD1):c.1072T>C (p.Ser358Pro)	HECTD1 (S358P)	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 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644155	NM_015382.4(HECTD1):c.7521T>C (p.Thr2507=)	HECTD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2629749	NM_015382.4(HECTD1):c.3214G>A (p.Asp1072Asn)	HECTD1 (D1072N)	Single nucleotide variant (missense variant)	HECTD1-related disorder	GUncertain significance
Select item 2626867	NM_015382.4(HECTD1):c.5893C>T (p.Gln1965Ter)	HECTD1 (Q1918* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2623921	NM_015382.4(HECTD1):c.2542G>A (p.Val848Ile)	HECTD1 (V848I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2620457	NM_015382.4(HECTD1):c.809C>G (p.Ser270Cys)	HECTD1 (S270C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616683	NM_015382.4(HECTD1):c.2584A>G (p.Ile862Val)	HECTD1 (I862V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614209	NM_015382.4(HECTD1):c.4999C>T (p.Arg1667Cys)	HECTD1 (R1667C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612279	NM_015382.4(HECTD1):c.2618A>G (p.His873Arg)	HECTD1 (H873R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609704	NM_015382.4(HECTD1):c.6068G>A (p.Gly2023Asp)	HECTD1 (G1976D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605090	NM_015382.4(HECTD1):c.7302T>G (p.Asp2434Glu)	HECTD1 (D2387E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596454	NM_015382.4(HECTD1):c.5686A>G (p.Ile1896Val)	HECTD1 (I1896V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593922	NM_015382.4(HECTD1):c.5061A>T (p.Glu1687Asp)	HECTD1 (E1687D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591959	NM_015382.4(HECTD1):c.4130G>A (p.Gly1377Asp)	HECTD1 (G1330D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572182	NM_015382.4(HECTD1):c.2774_2777del (p.Asn925fs)	HECTD1 (N925fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2545563	NM_015382.4(HECTD1):c.3013C>T (p.Arg1005Cys)	HECTD1 (R1005C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544694	NM_015382.4(HECTD1):c.1058G>A (p.Arg353Gln)	HECTD1 (R353Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539589	NM_015382.4(HECTD1):c.1618A>G (p.Ile540Val)	HECTD1 (I540V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538663	NM_015382.4(HECTD1):c.3295G>T (p.Val1099Leu)	HECTD1 (V1099L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2538393	NM_015382.4(HECTD1):c.3877G>T (p.Gly1293Cys)	HECTD1 (G1293C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537905	NM_015382.4(HECTD1):c.7060C>T (p.Pro2354Ser)	HECTD1 (P2354S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2529555	NM_015382.4(HECTD1):c.2876G>A (p.Arg959Gln)	HECTD1 (R959Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521001	NM_015382.4(HECTD1):c.5975A>G (p.Gln1992Arg)	HECTD1 (Q1992R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520529	NM_015382.4(HECTD1):c.4412G>A (p.Arg1471His)	HECTD1 (R1424H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508833	NM_015382.4(HECTD1):c.1527G>T (p.Glu509Asp)	HECTD1 (E509D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2505276	NM_015382.4(HECTD1):c.7245C>A (p.Cys2415Ter)	HECTD1 (C2368* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2494757	NM_015382.4(HECTD1):c.2138G>T (p.Gly713Val)	HECTD1 (G713V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476506	NM_015382.4(HECTD1):c.1504A>C (p.Lys502Gln)	HECTD1 (K502Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459211	NM_015382.4(HECTD1):c.3196C>T (p.Arg1066Trp)	HECTD1 (R1066W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456086	NM_015382.4(HECTD1):c.7787A>C (p.Glu2596Ala)	HECTD1 (E2596A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411858	NM_015382.4(HECTD1):c.6676C>G (p.Leu2226Val)	HECTD1 (L2226V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2402645	NM_015382.4(HECTD1):c.2782A>G (p.Met928Val)	HECTD1 (M928V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400276	NM_015382.4(HECTD1):c.6445A>C (p.Met2149Leu)	HECTD1 (M2102L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377062	NM_015382.4(HECTD1):c.5227A>G (p.Ile1743Val)	HECTD1 (I1696V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376962	NM_015382.4(HECTD1):c.5141G>A (p.Arg1714His)	HECTD1 (R1667H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330787	NM_015382.4(HECTD1):c.2768T>C (p.Val923Ala)	HECTD1 (V923A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326079	NM_015382.4(HECTD1):c.6820A>G (p.Met2274Val)	HECTD1 (M2227V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316629	NM_015382.4(HECTD1):c.5927T>C (p.Ile1976Thr)	HECTD1 (I1976T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316289	NM_015382.4(HECTD1):c.1744A>G (p.Thr582Ala)	HECTD1 (T582A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311686	NM_015382.4(HECTD1):c.166G>T (p.Ala56Ser)	HECTD1 (A56S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308437	NM_015382.4(HECTD1):c.47G>A (p.Gly16Glu)	HECTD1 (G16E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292956	NM_015382.4(HECTD1):c.1798A>G (p.Ile600Val)	HECTD1 (I600V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288272	NM_015382.4(HECTD1):c.66C>G (p.Asp22Glu)	HECTD1 (D22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281297	NM_015382.4(HECTD1):c.5138A>G (p.Gln1713Arg)	HECTD1 (Q1666R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273058	NM_015382.4(HECTD1):c.5011C>G (p.Leu1671Val)	HECTD1 (L1624V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265964	NM_015382.4(HECTD1):c.5453C>T (p.Ala1818Val)	HECTD1 (A1771V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261083	NM_015382.4(HECTD1):c.5392C>T (p.Pro1798Ser)	HECTD1 (P1751S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248310	NM_015382.4(HECTD1):c.1088A>G (p.His363Arg)	HECTD1 (H363R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2246126	NM_015382.4(HECTD1):c.1144A>G (p.Ile382Val)	HECTD1 (I382V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242792	NM_015382.4(HECTD1):c.7292G>A (p.Ser2431Asn)	HECTD1 (S2384N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242674	NM_015382.4(HECTD1):c.2285G>A (p.Cys762Tyr)	HECTD1 (C762Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230613	NM_015382.4(HECTD1):c.731G>C (p.Gly244Ala)	HECTD1 (G244A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224311	NM_015382.4(HECTD1):c.2942A>G (p.His981Arg)	HECTD1 (H981R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222686	NM_015382.4(HECTD1):c.7771G>C (p.Glu2591Gln)	HECTD1 (E2591Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218916	NM_015382.4(HECTD1):c.6845A>G (p.Asn2282Ser)	HECTD1 (N2235S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212321	NM_015382.4(HECTD1):c.568T>G (p.Ser190Ala)	HECTD1 (S190A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208547	NM_015382.4(HECTD1):c.5128C>G (p.Pro1710Ala)	HECTD1 (P1710A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809348	GRCh37/hg19 14q12-13.1(chr14:24959823-33415359)x1	AKAP6, AP4S1 +19 more	Copy number loss	not provided	GPathogenic
Select item 1703540	GRCh37/hg19 14q11.2-21.3(chr14:20511672-47481203)	ABHD4, ACIN1 +197 more	Copy number gain	Seizure	GPathogenic
Select item 1679752	NM_015382.4(HECTD1):c.5266G>A (p.Gly1756Arg)	HECTD1 (G1756R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676204	NC_000014.8:g.(21162263_36986276)_(36987308_50713602)del	DHRS1, NYNRIN +190 more	Deletion	Brain-lung-thyroid syndrome	GPathogenic
Select item 1338873	NM_015382.4(HECTD1):c.6021A>G (p.Leu2007=)	HECTD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1286114	NM_015382.4(HECTD1):c.153C>T (p.Arg51=)	HECTD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1178217	NM_015382.4(HECTD1):c.360C>T (p.Ala120=)	HECTD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 973024	GRCh37/hg19 14q11.2-21.1(chr14:20511672-42881888)x3	AKAP6, MDP1 +187 more	Copy number gain	not provided	Gnot provided
Select item 815628	GRCh37/hg19 14q11.2-21.2(chr14:20511672-44829030)x3	ABHD4, ACIN1 +187 more	Copy number gain	not provided	GPathogenic

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