HECTD2[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2459818	NM_182765.6(HECTD2):c.19G>C (p.Val7Leu)	HECTD2, HECTD2-AS1 +1 more (V7L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2222576	NM_182765.6(HECTD2):c.31G>T (p.Ala11Ser)	HECTD2, HECTD2-AS1 +1 more (A11S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104938	NM_182765.6(HECTD2):c.88G>C (p.Glu30Gln)	HECTD2, HECTD2-AS1 +1 more (E30Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2472384	NM_182765.6(HECTD2):c.94G>C (p.Glu32Gln)	HECTD2, HECTD2-AS1 +1 more (E32Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2554438	NM_182765.6(HECTD2):c.112G>C (p.Val38Leu)	HECTD2, HECTD2-AS1 +1 more (V38L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3104933	NM_182765.6(HECTD2):c.119C>T (p.Ala40Val)	HECTD2, HECTD2-AS1 +1 more (A40V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3283865	NM_182765.6(HECTD2):c.155C>T (p.Ala52Val)	HECTD2, HECTD2-AS1 (A52V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3283864	NM_182765.6(HECTD2):c.238G>A (p.Ala80Thr)	HECTD2, HECTD2-AS1 (A80T)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2547661	NM_182765.6(HECTD2):c.313C>T (p.Arg105Cys)	HECTD2, HECTD2-AS1 (R105C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2205826	NM_182765.6(HECTD2):c.314G>A (p.Arg105His)	HECTD2, HECTD2-AS1 (R105H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2516813	NM_182765.6(HECTD2):c.316A>G (p.Thr106Ala)	HECTD2, HECTD2-AS1 (T106A)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2460794	NM_182765.6(HECTD2):c.370A>G (p.Ile124Val)	HECTD2, HECTD2-AS1 (I17V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3283863	NM_182765.6(HECTD2):c.418G>C (p.Glu140Gln)	HECTD2, HECTD2-AS1 (E33Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2325864	NM_182765.6(HECTD2):c.454C>A (p.His152Asn)	HECTD2, HECTD2-AS1 (H45N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542515	NM_182765.6(HECTD2):c.455A>G (p.His152Arg)	HECTD2, HECTD2-AS1 (H45R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283860	NM_182765.6(HECTD2):c.610G>A (p.Val204Ile)	HECTD2, HECTD2-AS1 (V204I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3104939	NM_182765.6(HECTD2):c.913C>T (p.Pro305Ser)	HECTD2, HECTD2-AS1 (P305S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2246488	NM_182765.6(HECTD2):c.1063C>G (p.His355Asp)	HECTD2, HECTD2-AS1 (H248D +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283867	NM_182765.6(HECTD2):c.1109A>G (p.Gln370Arg)	HECTD2, HECTD2-AS1 (Q374R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104934	NM_182765.6(HECTD2):c.1267C>T (p.Arg423Trp)	HECTD2, HECTD2-AS1 (R423W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104935	NM_182765.6(HECTD2):c.1508G>A (p.Arg503Gln)	HECTD2, HECTD2-AS1 (R503Q +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283861	NM_182765.6(HECTD2):c.1630C>A (p.Pro544Thr)	HECTD2, HECTD2-AS1 (P548T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104936	NM_182765.6(HECTD2):c.1646A>G (p.Asn549Ser)	HECTD2, HECTD2-AS1 (N549S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2254823	NM_182765.6(HECTD2):c.1648G>A (p.Val550Ile)	HECTD2, HECTD2-AS1 (V443I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3283866	NM_182765.6(HECTD2):c.1649T>C (p.Val550Ala)	HECTD2, HECTD2-AS1 (V554A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104937	NM_182765.6(HECTD2):c.1711T>C (p.Ser571Pro)	HECTD2, HECTD2-AS1 (S575P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541053	NM_182765.6(HECTD2):c.1714C>T (p.His572Tyr)	HECTD2, HECTD2-AS1 (H465Y +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 791305	NM_182765.6(HECTD2):c.2019G>A (p.Gln673=)	HECTD2-AS1, HECTD2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 768377	NM_182765.6(HECTD2):c.2055C>T (p.Asp685=)	HECTD2, HECTD2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2336340	NM_182765.6(HECTD2):c.2320G>A (p.Gly774Arg)	HECTD2, HECTD2-AS1 (G778R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3063140	GRCh37/hg19 10q23.2-23.32(chr10:88121043-93641582)x1	ACTA2, ADIRF +46 more	Copy number loss	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 1807839	GRCh37/hg19 10q23.31-23.33(chr10:89823147-96056941)x1	ACTA2, ANKRD1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1807623	GRCh37/hg19 10q23.1-23.32(chr10:82595472-93542416)x1	ACTA2, ADIRF +56 more	Copy number loss	not provided	GPathogenic
Select item 1527596	GRCh37/hg19 10q23.31-24.1(chr10:92667881-98970384)	ACSM6, ALDH18A1 +49 more	Copy number loss	not specified	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563795	GRCh37/hg19 10q23.1-23.32(chr10:83379241-93219169)x1	ACTA2, ADIRF +55 more	Copy number loss	not provided	GPathogenic
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443180	GRCh37/hg19 10q23.32-23.33(chr10:93186527-95820286)x1	BTAF1, CEP55 +20 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 377387	GRCh37/hg19 10q23.1-25.1(chr10:85557432-105804295)x1	CYP17A1, KLLN +206 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response

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Items: 47