C2678046[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 25

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2432667	NM_031407.7(HUWE1):c.11410C>G (p.Arg3804Gly)	HUWE1 (R3804G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432675	NM_031407.7(HUWE1):c.11221A>G (p.Asn3741Asp)	HUWE1 (N3741D)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432668	NM_031407.7(HUWE1):c.10654G>T (p.Gly3552Cys)	HUWE1 (G3552C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432665	NM_031407.7(HUWE1):c.10237G>A (p.Val3413Met)	HUWE1 (V3413M)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 280723	NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys)	HUWE1 (R3070C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +3 more	GPathogenic/Likely pathogenic
Select item 1314720	NM_031407.7(HUWE1):c.8840C>T (p.Pro2947Leu)	HUWE1 (P2947L)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +1 more	GUncertain significance
Select item 2432669	NM_031407.7(HUWE1):c.8686G>C (p.Ala2896Pro)	HUWE1 (A2896P)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432679	NM_031407.7(HUWE1):c.8653G>A (p.Ala2885Thr)	HUWE1 (A2885T)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432670	NM_031407.7(HUWE1):c.8529T>A (p.Asp2843Glu)	HUWE1 (D2843E)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432672	NM_031407.7(HUWE1):c.8458A>G (p.Thr2820Ala)	HUWE1 (T2820A)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432666	NM_031407.7(HUWE1):c.8208T>G (p.Asp2736Glu)	HUWE1 (D2736E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2689227	NM_031407.7(HUWE1):c.8159A>G (p.Gln2720Arg)	HUWE1 (Q2720R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432662	NM_031407.7(HUWE1):c.8152A>C (p.Ser2718Arg)	HUWE1 (S2718R)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432677	NM_031407.7(HUWE1):c.6447G>T (p.Gln2149His)	HUWE1 (Q2149H)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432680	NM_031407.7(HUWE1):c.6317_6318delinsTG (p.Cys2106Leu)	HUWE1 (C2106L)	Indel (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432676	NM_031407.7(HUWE1):c.6071C>G (p.Ser2024Cys)	HUWE1 (S2024C)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2689228	NM_031407.7(HUWE1):c.6062C>T (p.Thr2021Ile)	HUWE1 (T2021I)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432681	NM_031407.7(HUWE1):c.5885-1G>C	HUWE1	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432682	NM_031407.7(HUWE1):c.5494T>G (p.Cys1832Gly)	HUWE1 (C1832G)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 2432671	NM_031407.7(HUWE1):c.5122A>C (p.Lys1708Gln)	HUWE1 (K1708Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 981446	NM_031407.7(HUWE1):c.4094G>A (p.Arg1365Gln)	HUWE1 (R1365Q)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type +1 more	GUncertain significance
Select item 1924513	NM_031407.7(HUWE1):c.3727G>A (p.Val1243Met)	LOC126863263, HUWE1 (V1243M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2432674	NM_031407.7(HUWE1):c.2521C>T (p.Leu841Phe)	HUWE1 (L841F)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance
Select item 1687643	NM_031407.7(HUWE1):c.473C>T (p.Pro158Leu)	HUWE1 (P158L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2432678	NM_031407.7(HUWE1):c.353A>G (p.His118Arg)	HUWE1 (H118R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked syndromic, Turner type	GUncertain significance

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Items: 25