HECTD3[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 57429	GRCh38/hg38 1p34.1(chr1:44713837-45282899)x3	ARMH1, BEST4 +39 more	Copy number gain	See cases	GUncertain significance
Select item 154768	GRCh38/hg38 1p34.1(chr1:44817130-45230407)x3	EIF2B3, HECTD3 +12 more	Copy number gain	See cases	GUncertain significance
Select item 145560	GRCh38/hg38 1p34.1(chr1:44962358-45585262)x3	AKR1A1, CCDC163 +48 more	Copy number gain	See cases	GUncertain significance
Select item 2536464	NM_024602.6(HECTD3):c.2495A>C (p.Tyr832Ser)	HECTD3 (Y832S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757624	NM_024602.6(HECTD3):c.2446G>A (p.Ala816Thr)	HECTD3 (A816T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2302749	NM_024602.6(HECTD3):c.2301C>G (p.Asp767Glu)	HECTD3 (D767E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264357	NM_024602.6(HECTD3):c.2289C>G (p.Phe763Leu)	HECTD3 (F763L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613988	NM_024602.6(HECTD3):c.2214G>C (p.Glu738Asp)	HECTD3 (E738D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398158	NM_024602.6(HECTD3):c.2192T>A (p.Leu731Gln)	HECTD3 (L731Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2358947	NM_024602.6(HECTD3):c.2189T>C (p.Val730Ala)	HECTD3 (V730A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347337	NM_024602.6(HECTD3):c.2152A>G (p.Met718Val)	HECTD3 (M718V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2225713	NM_024602.6(HECTD3):c.2086C>T (p.Arg696Cys)	HECTD3 (R696C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559785	NM_024602.6(HECTD3):c.1835A>C (p.Lys612Thr)	HECTD3 (K612T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335706	NM_024602.6(HECTD3):c.1804G>A (p.Gly602Arg)	HECTD3 (G602R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267391	NM_024602.6(HECTD3):c.1778G>A (p.Arg593Gln)	HECTD3 (R593Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711828	NM_024602.6(HECTD3):c.1730A>G (p.Asn577Ser)	HECTD3 (N577S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2548611	NM_024602.6(HECTD3):c.1709T>C (p.Val570Ala)	HECTD3 (V570A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 711829	NM_024602.6(HECTD3):c.1686C>T (p.Thr562=)	HECTD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2334889	NM_024602.6(HECTD3):c.1525T>A (p.Ser509Thr)	HECTD3 (S509T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267192	NM_024602.6(HECTD3):c.1474C>G (p.Pro492Ala)	HECTD3 (P492A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 757625	NM_024602.6(HECTD3):c.1455T>G (p.Arg485=)	HECTD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2548185	NM_024602.6(HECTD3):c.1417C>T (p.Arg473Cys)	HECTD3 (R473C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2306691	NM_024602.6(HECTD3):c.1324G>A (p.Val442Met)	HECTD3 (V442M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329260	NM_024602.6(HECTD3):c.1316T>G (p.Ile439Ser)	HECTD3 (I439S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360675	NM_024602.6(HECTD3):c.1287G>C (p.Trp429Cys)	HECTD3 (W429C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333335	NM_024602.6(HECTD3):c.1245C>G (p.Ile415Met)	HECTD3 (I415M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638784	NM_024602.6(HECTD3):c.1162dup (p.Thr388fs)	HECTD3 (T388fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2638785	NM_024602.6(HECTD3):c.987C>T (p.Asp329=)	HECTD3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2331215	NM_024602.6(HECTD3):c.956A>G (p.Asn319Ser)	HECTD3 (N319S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287663	NM_024602.6(HECTD3):c.698A>T (p.Glu233Val)	HECTD3 (E233V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 777749	NM_024602.6(HECTD3):c.615A>G (p.Gln205=)	HECTD3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2280057	NM_024602.6(HECTD3):c.601G>A (p.Ala201Thr)	HECTD3 (A201T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2514337	NM_024602.6(HECTD3):c.575C>G (p.Ser192Trp)	HECTD3 (S192W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292203	NM_024602.6(HECTD3):c.575C>T (p.Ser192Leu)	HECTD3 (S192L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330913	NM_024602.6(HECTD3):c.526C>T (p.Leu176Phe)	HECTD3 (L176F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456376	NM_024602.6(HECTD3):c.478C>T (p.His160Tyr)	HECTD3 (H160Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2529632	NM_024602.6(HECTD3):c.441G>C (p.Glu147Asp)	HECTD3 (E147D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558003	NM_024602.6(HECTD3):c.367A>G (p.Lys123Glu)	HECTD3 (K123E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242423	NM_024602.6(HECTD3):c.278G>T (p.Arg93Leu)	HECTD3 (R93L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217868	NM_024602.6(HECTD3):c.208G>A (p.Gly70Ser)	HECTD3, LOC129930430 (G70S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2618970	NM_024602.6(HECTD3):c.116C>T (p.Ala39Val)	HECTD3, LOC129930430 (A39V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2348898	NM_024602.6(HECTD3):c.35C>T (p.Ser12Phe)	HECTD3 (S12F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307133	NM_024602.6(HECTD3):c.17C>T (p.Pro6Leu)	HECTD3, LOC129930431 (P6L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2425557	NC_000001.10:g.(?_44257753)_(46663493_?)dup	AKR1A1, ARMH1 +39 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1684561	GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3	AKR1A1, ARMH1 +36 more	Copy number gain	See cases	GUncertain significance
Select item 1526949	GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)	AGBL4, AKR1A1 +58 more	Copy number loss	not specified	GLikely pathogenic
Select item 1526762	GRCh37/hg19 1p35.1-33(chr1:33285582-47891811)	A3GALT2, ADPRS +202 more	Copy number gain	not specified	GPathogenic
Select item 830540	NC_000001.11:g.(?_44822405)_(45340264_?)dup	MUTYH, PTCH2 +6 more	Duplication	Familial adenomatous polyposis 2	GUncertain significance
Select item 814071	GRCh37/hg19 1p34.1(chr1:45386263-45982314)x1	MUTYH, PRDX1 +8 more	Copy number loss	not provided	GUncertain significance
Select item 814070	GRCh37/hg19 1p34.1(chr1:45337007-45554100)x3	EIF2B3, HECTD3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 584069	NC_000001.10:g.(?_33241563)_(46663513_?)dup	CLSPN, COL8A2 +179 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate C	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 55