HECTD4[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 57157	GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1	LOC130008692, LOC130008693 +316 more	Copy number loss	See cases	GPathogenic
Select item 773266	NM_001388303.1(HECTD4):c.13083G>A (p.Pro4361=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 2466556	NM_001388303.1(HECTD4):c.12889T>G (p.Phe4297Val)	HECTD4 (F4307V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261084	NM_001388303.1(HECTD4):c.12875A>G (p.Tyr4292Cys)	HECTD4 (Y4292C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315761	NM_001388303.1(HECTD4):c.12829A>G (p.Met4277Val)	HECTD4 (M4277V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213197	NM_001388303.1(HECTD4):c.12788G>A (p.Arg4263Gln)	HECTD4 (R4263Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229290	NM_001388303.1(HECTD4):c.12779C>T (p.Thr4260Met)	HECTD4 (T4260M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104961	NM_001388303.1(HECTD4):c.12743T>G (p.Leu4248Arg)	HECTD4 (L4248R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643334	NM_001388303.1(HECTD4):c.12726G>A (p.Ala4242=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2221349	NM_001388303.1(HECTD4):c.12718A>G (p.Ile4240Val)	HECTD4 (I4240V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104960	NM_001388303.1(HECTD4):c.12694C>G (p.Leu4232Val)	HECTD4 (L4232V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589920	NM_001388303.1(HECTD4):c.12686G>A (p.Arg4229Gln)	HECTD4 (R4239Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539374	NM_001388303.1(HECTD4):c.12596C>T (p.Thr4199Met)	HECTD4 (T4209M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3060705	NM_001388303.1(HECTD4):c.12533G>C (p.Ser4178Thr)	HECTD4 (S4178T +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2411123	NM_001388303.1(HECTD4):c.12517G>A (p.Val4173Ile)	HECTD4 (V4173I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048931	NM_001388303.1(HECTD4):c.12488A>G (p.Gln4163Arg)	HECTD4 (Q4163R +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GLikely benign
Select item 2277244	NM_001388303.1(HECTD4):c.12460G>A (p.Glu4154Lys)	HECTD4 (E4154K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787932	NM_001388303.1(HECTD4):c.12459C>T (p.Gly4153=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714185	NM_001388303.1(HECTD4):c.12408C>T (p.Asp4136=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3104959	NM_001388303.1(HECTD4):c.12350G>C (p.Gly4117Ala)	HECTD4 (G4127A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104958	NM_001388303.1(HECTD4):c.12344C>T (p.Thr4115Ile)	HECTD4 (T4115I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588485	NM_001388303.1(HECTD4):c.12269C>T (p.Ser4090Leu)	HECTD4 (S4090L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104957	NM_001388303.1(HECTD4):c.12257G>T (p.Ser4086Ile)	HECTD4 (S4086I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259095	NM_001388303.1(HECTD4):c.12257G>A (p.Ser4086Asn)	HECTD4 (S4086N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308393	NM_001388303.1(HECTD4):c.12239T>C (p.Val4080Ala)	HECTD4 (V4080A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3026058	NM_001388303.1(HECTD4):c.12210C>T (p.Ser4070=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2292803	NM_001388303.1(HECTD4):c.12043A>G (p.Ile4015Val)	HECTD4 (I4015V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234176	NM_001388303.1(HECTD4):c.11962G>A (p.Val3988Met)	HECTD4 (V3988M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3104955	NM_001388303.1(HECTD4):c.11944T>C (p.Tyr3982His)	HECTD4 (Y3982H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104954	NM_001388303.1(HECTD4):c.11863C>A (p.Pro3955Thr)	HECTD4 (P3965T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352682	NM_001388303.1(HECTD4):c.11773G>A (p.Ala3925Thr)	HECTD4 (A3935T +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2567936	NM_001388303.1(HECTD4):c.11770G>A (p.Val3924Met)	HECTD4 (V3924M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3234332	NM_001388303.1(HECTD4):c.11748C>T (p.Pro3916=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3104953	NM_001388303.1(HECTD4):c.11693G>A (p.Arg3898His)	HECTD4 (R3898H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2277954	NM_001388303.1(HECTD4):c.11644A>G (p.Thr3882Ala)	HECTD4 (T3882A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345682	NM_001388303.1(HECTD4):c.11548G>A (p.Val3850Ile)	HECTD4 (V3860I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398968	NM_001388303.1(HECTD4):c.11525G>A (p.Arg3842Gln)	HECTD4 (R3852Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2531630	NM_001388303.1(HECTD4):c.11479G>A (p.Glu3827Lys)	HECTD4 (E3827K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643335	NM_001388303.1(HECTD4):c.11328G>A (p.Pro3776=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2279378	NM_001388303.1(HECTD4):c.11306C>T (p.Thr3769Ile)	HECTD4 (T3769I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361185	NM_001388303.1(HECTD4):c.11182A>G (p.Lys3728Glu)	HECTD4 (K3728E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596169	NM_001388303.1(HECTD4):c.11092G>A (p.Val3698Ile)	HECTD4 (V3708I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622459	NM_001388303.1(HECTD4):c.11086A>G (p.Ile3696Val)	HECTD4 (I3706V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104952	NM_001388303.1(HECTD4):c.11015A>G (p.Glu3672Gly)	HECTD4 (E3682G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316630	NM_001388303.1(HECTD4):c.10961A>G (p.Asp3654Gly)	HECTD4 (D3664G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636846	NM_001388303.1(HECTD4):c.10877T>C (p.Met3626Thr)	HECTD4 (M3626T +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2474799	NM_001388303.1(HECTD4):c.10744G>A (p.Ala3582Thr)	HECTD4 (A3582T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2643336	NM_001388303.1(HECTD4):c.10726C>G (p.Leu3576Val)	HECTD4 (L3576V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2637394	NM_001388303.1(HECTD4):c.10632CAGCCTGGG[1] (p.3545SLG[1])	HECTD4	Microsatellite (inframe_deletion)	HECTD4-related disorder	GUncertain significance
Select item 2530569	NM_001388303.1(HECTD4):c.10586C>T (p.Ala3529Val)	HECTD4 (A3529V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3054680	NM_001388303.1(HECTD4):c.10566G>A (p.Pro3522=)	HECTD4	Single nucleotide variant (synonymous variant)	HECTD4-related disorder	GLikely benign
Select item 2340309	NM_001388303.1(HECTD4):c.10532C>T (p.Pro3511Leu)	HECTD4 (P3511L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234848	NM_001388303.1(HECTD4):c.10526T>C (p.Val3509Ala)	HECTD4 (V3519A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104989	NM_001388303.1(HECTD4):c.10514G>T (p.Ser3505Ile)	HECTD4 (S3505I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104988	NM_001388303.1(HECTD4):c.10449C>G (p.Ile3483Met)	HECTD4 (I3483M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264773	NM_001388303.1(HECTD4):c.10331C>G (p.Pro3444Arg)	HECTD4 (P3454R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444474	NM_001388303.1(HECTD4):c.10219C>T (p.His3407Tyr)	HECTD4 (H3407Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	GPathogenic
Select item 2631742	NM_001388303.1(HECTD4):c.10100T>C (p.Leu3367Pro)	HECTD4 (L3367P +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 446245	NM_001388303.1(HECTD4):c.9985C>T (p.Gln3329Ter)	HECTD4 (Q3339* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	GPathogenic
Select item 2622460	NM_001388303.1(HECTD4):c.9936G>T (p.Arg3312Ser)	HECTD4 (R3312S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227151	NM_001388303.1(HECTD4):c.9832A>G (p.Ser3278Gly)	HECTD4 (S3278G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367324	NM_001388303.1(HECTD4):c.9772A>T (p.Met3258Leu)	HECTD4 (M3268L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343350	NM_001388303.1(HECTD4):c.9755C>T (p.Thr3252Met)	HECTD4 (T3262M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313592	NM_001388303.1(HECTD4):c.9731C>T (p.Ala3244Val)	HECTD4 (A3244V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2430068	NM_001388303.1(HECTD4):c.9724dup (p.Ala3242fs)	HECTD4 (A3242fs +1 more)	Duplication (frameshift variant)	Autism spectrum disorder	GLikely pathogenic
Select item 2407480	NM_001388303.1(HECTD4):c.9719G>C (p.Gly3240Ala)	HECTD4 (G3250A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2632153	NM_001388303.1(HECTD4):c.9716C>T (p.Ser3239Phe)	HECTD4 (S3239F +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2556863	NM_001388303.1(HECTD4):c.9713G>A (p.Gly3238Asp)	HECTD4 (G3248D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550866	NM_001388303.1(HECTD4):c.9703G>A (p.Ala3235Thr)	HECTD4 (A3235T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104987	NM_001388303.1(HECTD4):c.9700G>A (p.Gly3234Ser)	HECTD4 (G3244S +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3104986	NM_001388303.1(HECTD4):c.9684G>C (p.Gln3228His)	HECTD4 (Q3238H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2572202	NM_001388303.1(HECTD4):c.9647A>C (p.Gln3216Pro)	HECTD4 (Q3216P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2538801	NM_001388303.1(HECTD4):c.9590T>C (p.Leu3197Pro)	HECTD4 (L3197P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104985	NM_001388303.1(HECTD4):c.9570G>C (p.Gln3190His)	HECTD4 (Q3190H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2221509	NM_001388303.1(HECTD4):c.9445G>A (p.Val3149Ile)	HECTD4 (V3159I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234899	NM_001388303.1(HECTD4):c.9415G>A (p.Glu3139Lys)	HECTD4 (E3149K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384526	NM_001388303.1(HECTD4):c.9193C>T (p.Arg3065Trp)	HECTD4 (R3065W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3032279	NM_001388303.1(HECTD4):c.9118G>T (p.Val3040Leu)	HECTD4 (V3040L +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2274209	NM_001388303.1(HECTD4):c.9107C>T (p.Pro3036Leu)	HECTD4 (P3036L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533359	NM_001388303.1(HECTD4):c.9079C>T (p.Arg3027Cys)	HECTD4 (R3027C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3031709	NM_001388303.1(HECTD4):c.9074G>C (p.Gly3025Ala)	HECTD4 (G3025A +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2520797	NM_001388303.1(HECTD4):c.8992A>G (p.Ile2998Val)	HECTD4 (I3008V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222438	NM_001388303.1(HECTD4):c.8930C>T (p.Thr2977Met)	HECTD4 (T2977M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2393577	NM_001388303.1(HECTD4):c.8905G>T (p.Gly2969Cys)	HECTD4 (G2969C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510642	NM_001388303.1(HECTD4):c.8901C>G (p.His2967Gln)	HECTD4 (H2967Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104983	NM_001388303.1(HECTD4):c.8824G>A (p.Ala2942Thr)	HECTD4 (A2942T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2322699	NM_001388303.1(HECTD4):c.8769C>G (p.Ser2923Arg)	HECTD4 (S2923R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2621218	NM_001388303.1(HECTD4):c.8662C>T (p.Arg2888Cys)	HECTD4 (R2888C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104982	NM_001388303.1(HECTD4):c.8579G>A (p.Arg2860His)	HECTD4 (R2860H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204965	NM_001388303.1(HECTD4):c.8578C>T (p.Arg2860Cys)	HECTD4 (R2870C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300201	NM_001388303.1(HECTD4):c.8425G>A (p.Val2809Ile)	HECTD4 (V2809I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327582	NM_001388303.1(HECTD4):c.8306A>T (p.Asn2769Ile)	HECTD4 (N2779I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541372	NM_001388303.1(HECTD4):c.8096C>T (p.Ser2699Leu)	HECTD4 (S2699L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477863	NM_001388303.1(HECTD4):c.8003A>G (p.Gln2668Arg)	HECTD4 (Q2678R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104981	NM_001388303.1(HECTD4):c.7903G>A (p.Glu2635Lys)	HECTD4 (E2645K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2630947	NM_001388303.1(HECTD4):c.7826G>A (p.Gly2609Glu)	HECTD4 (G2609E +2 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2527219	NM_001388303.1(HECTD4):c.7798A>G (p.Ser2600Gly)	HECTD4 (S2600G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2635941	NM_001388303.1(HECTD4):c.7697A>G (p.Asn2566Ser)	HECTD4 (N2566S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3104980	NM_001388303.1(HECTD4):c.7687G>A (p.Ala2563Thr)	HECTD4 (A2563T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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