ClinVar for Gene (Select 283450) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234542	NM_001388303.1(HECTD4):c.1579T>C (p.Tyr527His)	HECTD4 (Y527H)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 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 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 3104980	NM_001388303.1(HECTD4):c.7687G>A (p.Ala2563Thr)	HECTD4 (A2563T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104979	NM_001388303.1(HECTD4):c.7675G>A (p.Ala2559Thr)	HECTD4 (A2559T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104977	NM_001388303.1(HECTD4):c.7139C>T (p.Ser2380Phe)	HECTD4 (S108F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104976	NM_001388303.1(HECTD4):c.6919T>C (p.Cys2307Arg)	HECTD4 (C2307R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104975	NM_001388303.1(HECTD4):c.6511G>A (p.Glu2171Lys)	HECTD4 (E2171K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104973	NM_001388303.1(HECTD4):c.6079G>A (p.Val2027Ile)	HECTD4 (V2037I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104972	NM_001388303.1(HECTD4):c.5664C>A (p.Ser1888Arg)	HECTD4 (S1888R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104971	NM_001388303.1(HECTD4):c.5660C>T (p.Pro1887Leu)	HECTD4 (P1887L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104970	NM_001388303.1(HECTD4):c.5189G>A (p.Ser1730Asn)	HECTD4 (S1730N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104969	NM_001388303.1(HECTD4):c.844A>T (p.Ile282Leu)	HECTD4 (I282L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104968	NM_001388303.1(HECTD4):c.4319A>G (p.Asn1440Ser)	HECTD4 (N1450S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104967	NM_001388303.1(HECTD4):c.725T>C (p.Val242Ala)	HECTD4 (V242A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104966	NM_001388303.1(HECTD4):c.3448-18C>G	HECTD4 (P1154A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104965	NM_001388303.1(HECTD4):c.2363A>G (p.Asn788Ser)	HECTD4 (N788S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104963	NM_001388303.1(HECTD4):c.2080G>A (p.Glu694Lys)	HECTD4 (E694K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3104962	NM_001388303.1(HECTD4):c.579T>G (p.Asn193Lys)	HECTD4 (N193K)	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 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 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 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 3104956	NM_001388303.1(HECTD4):c.1595A>G (p.Tyr532Cys)	HECTD4 (Y532C)	Single nucleotide variant (missense variant)	not specified	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 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 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 3068165	NM_001388303.1(HECTD4):c.5075T>C (p.Ile1692Thr)	HECTD4 (I1692T +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	GUncertain significance
Select item 3065696	NM_001388303.1(HECTD4):c.3113T>C (p.Leu1038Pro)	HECTD4 (L1038P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	GUncertain significance
Select item 3065662	NM_001388303.1(HECTD4):c.6887A>G (p.Asp2296Gly)	HECTD4 (D2296G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	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 3054680	NM_001388303.1(HECTD4):c.10566G>A (p.Pro3522=)	HECTD4	Single nucleotide variant (synonymous variant)	HECTD4-related disorder	GLikely benign
Select item 3050654	NM_001388303.1(HECTD4):c.3448-17dup	HECTD4 (S1155fs)	Duplication (frameshift variant +1 more)	HECTD4-related disorder	GLikely benign
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 3038847	NM_001388303.1(HECTD4):c.2864G>A (p.Arg955His)	HECTD4 (R955H)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GLikely benign
Select item 3038357	NM_001388303.1(HECTD4):c.5749A>T (p.Thr1917Ser)	HECTD4 (T1917S +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GLikely benign
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 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 3031633	NM_001388303.1(HECTD4):c.2448T>A (p.Ala816=)	HECTD4	Single nucleotide variant (synonymous variant)	HECTD4-related disorder	GLikely benign
Select item 3029476	NM_001388303.1(HECTD4):c.3767C>T (p.Pro1256Leu)	HECTD4 (P1256L +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	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 2643339	NM_001388303.1(HECTD4):c.300G>T (p.Leu100=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643338	NM_001388303.1(HECTD4):c.4864G>A (p.Val1622Met)	HECTD4 (V1622M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2643337	NM_001388303.1(HECTD4):c.6984A>G (p.Ala2328=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	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 2643335	NM_001388303.1(HECTD4):c.11328G>A (p.Pro3776=)	HECTD4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2643334	NM_001388303.1(HECTD4):c.12726G>A (p.Ala4242=)	HECTD4	Single nucleotide variant (synonymous 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 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 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 2634251	NM_001388303.1(HECTD4):c.786G>T (p.Arg262Ser)	HECTD4 (R262S)	Single nucleotide variant (missense variant)	HECTD4-related disorder	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 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 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 2629929	NM_001388303.1(HECTD4):c.884A>G (p.Asp295Gly)	HECTD4 (D295G)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2629601	NM_001388303.1(HECTD4):c.1376G>T (p.Arg459Leu)	HECTD4 (R459L)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2628413	NM_001388303.1(HECTD4):c.6805T>G (p.Ser2269Ala)	HECTD4 (S2269A +1 more)	Single nucleotide variant (missense variant)	HECTD4-related disorder	GUncertain significance
Select item 2623197	NM_001388303.1(HECTD4):c.4583T>A (p.Met1528Lys)	HECTD4 (M1538K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 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 2619900	NM_001388303.1(HECTD4):c.6604C>T (p.Pro2202Ser)	HECTD4 (P2212S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617484	NM_001388303.1(HECTD4):c.1565G>A (p.Arg522Gln)	HECTD4 (R522Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617001	NM_001388303.1(HECTD4):c.4484G>C (p.Ser1495Thr)	HECTD4 (S1495T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611019	NM_001388303.1(HECTD4):c.6149A>G (p.Lys2050Arg)	HECTD4 (K2050R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596736	NM_001388303.1(HECTD4):c.2949G>T (p.Met983Ile)	HECTD4 (M983I)	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 2593364	NM_001388303.1(HECTD4):c.5866C>T (p.His1956Tyr)	HECTD4 (H1966Y +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 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 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 2570658	NM_001388303.1(HECTD4):c.4958+1G>A	HECTD4	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum	GLikely pathogenic
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 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 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 2540510	NM_001388303.1(HECTD4):c.1321A>G (p.Ile441Val)	HECTD4 (I441V)	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 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 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 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 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 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 2525543	NM_001388303.1(HECTD4):c.7007G>A (p.Arg2336Gln)	HECTD4 (R2346Q +2 more)	Single nucleotide variant (missense variant)	not specified	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 2519662	NM_001388303.1(HECTD4):c.2504A>G (p.Asn835Ser)	HECTD4 (N835S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511371	NM_001388303.1(HECTD4):c.7306G>T (p.Val2436Phe)	HECTD4 (V2436F +2 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 2485020	NM_001388303.1(HECTD4):c.5636C>T (p.Ser1879Phe)	HECTD4 (S1889F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483298	NM_001388303.1(HECTD4):c.6467T>C (p.Leu2156Pro)	HECTD4 (L2156P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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