Related gene-specific medical variations for Gene (Select 143279) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2205826	NM_182765.6(HECTD2):c.314G>A (p.Arg105His)	HECTD2-AS1, HECTD2 (R105H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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

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Links from Gene

Items: 30