"PreventionGenetics, part of Exact Sciences"[submitter] AND "VPS13C"[g - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1440373	NM_020821.3(VPS13C):c.10955G>A (p.Arg3652Gln)	VPS13C (R3609Q +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 740199	NM_020821.3(VPS13C):c.10554C>T (p.Ala3518=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3049735	NM_020821.3(VPS13C):c.10414+6T>G	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 727687	NM_020821.3(VPS13C):c.10413A>G (p.Val3471=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 789076	NM_020821.3(VPS13C):c.10164A>G (p.Arg3388=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2199008	NM_020821.3(VPS13C):c.10029C>T (p.Ser3343=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder +1 more	GLikely benign
Select item 3034742	NM_020821.3(VPS13C):c.9889-3C>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 3047271	NM_020821.3(VPS13C):c.9707-5C>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 1468194	NM_020821.3(VPS13C):c.9661G>T (p.Val3221Leu)	VPS13C (V3178L +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GUncertain significance
Select item 3051268	NM_020821.3(VPS13C):c.9555A>T (p.Ser3185=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 717716	NM_020821.3(VPS13C):c.9526C>G (p.Arg3176Gly)	VPS13C (R3133G +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GLikely benign
Select item 787428	NM_020821.3(VPS13C):c.9165G>A (p.Leu3055=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder +1 more	GBenign
Select item 3054791	NM_020821.3(VPS13C):c.9105+8T>C	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 1288720	NM_020821.3(VPS13C):c.8988A>T (p.Pro2996=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1592520	NM_020821.3(VPS13C):c.8716-10A>G	VPS13C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 773562	NM_020821.3(VPS13C):c.8366T>C (p.Ile2789Thr)	VPS13C (I2746T +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign/Likely benign
Select item 3054058	NM_020821.3(VPS13C):c.8340G>T (p.Arg2780=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3047702	NM_020821.3(VPS13C):c.8160C>A (p.Gly2720=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 3036172	NM_020821.3(VPS13C):c.8080G>A (p.Ala2694Thr)	VPS13C (A2651T +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 3037685	NM_020821.3(VPS13C):c.8061A>C (p.Thr2687=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 1400890	NM_020821.3(VPS13C):c.7914A>G (p.Ile2638Met)	VPS13C (I2638M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2633726	NM_020821.3(VPS13C):c.7378C>T (p.Gln2460Ter)	VPS13C (Q2417* +1 more)	Single nucleotide variant (nonsense)	VPS13C-related disorder	GLikely pathogenic
Select item 3034183	NM_020821.3(VPS13C):c.7311G>A (p.Lys2437=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 708604	NM_020821.3(VPS13C):c.7276G>A (p.Val2426Ile)	VPS13C (V2383I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1280048	NM_020821.3(VPS13C):c.7128A>G (p.Gln2376=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3033061	NM_020821.3(VPS13C):c.6972A>G (p.Leu2324=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 1576976	NM_020821.3(VPS13C):c.6636G>C (p.Val2212=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3057362	NM_020821.3(VPS13C):c.6552T>C (p.Cys2184=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 770787	NM_020821.3(VPS13C):c.6469C>T (p.Leu2157Phe)	VPS13C (L2157F +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign
Select item 732933	NM_020821.3(VPS13C):c.6128C>G (p.Ala2043Gly)	VPS13C (A2000G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1571282	NM_020821.3(VPS13C):c.6024G>C (p.Glu2008Asp)	VPS13C (E1965D +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign/Likely benign
Select item 1229141	NM_020821.3(VPS13C):c.5863A>C (p.Asn1955His)	VPS13C (N1912H +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign
Select item 1238842	NM_020821.3(VPS13C):c.4362C>T (p.Val1454=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2054205	NM_020821.3(VPS13C):c.3777C>G (p.Thr1259=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 770247	NM_020821.3(VPS13C):c.3584A>C (p.Lys1195Thr)	VPS13C (K1195T +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign
Select item 1970850	NM_020821.3(VPS13C):c.3531G>A (p.Val1177=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1226093	NM_020821.3(VPS13C):c.3394A>G (p.Ile1132Val)	VPS13C (I1089V +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign
Select item 777017	NM_020821.3(VPS13C):c.3234T>C (p.Asp1078=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 3036004	NM_020821.3(VPS13C):c.3106A>G (p.Ile1036Val)	VPS13C (I1036V +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder	GUncertain significance
Select item 2061002	NM_020821.3(VPS13C):c.3018A>G (p.Gln1006=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3037077	NM_020821.3(VPS13C):c.2550T>A (p.Ile850=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 781292	NM_020821.3(VPS13C):c.2297C>A (p.Thr766Asn)	VPS13C (T766N +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign
Select item 1559135	NM_020821.3(VPS13C):c.2030-9C>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder +1 more	GBenign
Select item 3038453	NM_020821.3(VPS13C):c.1875G>C (p.Leu625=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder	GLikely benign
Select item 781293	NM_020821.3(VPS13C):c.1625C>T (p.Thr542Met)	VPS13C (T542M +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GBenign
Select item 742310	NM_020821.3(VPS13C):c.1368G>A (p.Gly456=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder +1 more	GLikely benign
Select item 758093	NM_020821.3(VPS13C):c.1362G>A (p.Arg454=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder +1 more	GBenign
Select item 1674055	NM_020821.3(VPS13C):c.1291-9T>A	VPS13C	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1272790	NM_020821.3(VPS13C):c.1194A>C (p.Ile398=)	VPS13C	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 748641	NM_020821.3(VPS13C):c.1132A>G (p.Ile378Val)	VPS13C (I335V +1 more)	Single nucleotide variant (missense variant)	VPS13C-related disorder +1 more	GLikely benign
Select item 3059789	NM_020821.3(VPS13C):c.1118+9G>T	VPS13C	Single nucleotide variant (intron variant)	VPS13C-related disorder	GLikely benign
Select item 2073351	NM_020821.3(VPS13C):c.1098T>A (p.Leu366=)	VPS13C	Single nucleotide variant (synonymous variant)	VPS13C-related disorder +1 more	GLikely benign
Select item 2629141	NM_020821.3(VPS13C):c.826-1G>A	VPS13C	Single nucleotide variant (splice acceptor variant)	VPS13C-related disorder	GLikely pathogenic
Select item 773747	NM_020821.3(VPS13C):c.511A>G (p.Lys171Glu)	VPS13C (K171E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 1258234	NM_020821.3(VPS13C):c.458G>A (p.Arg153His)	VPS13C (R153H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign

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Items: 55