C1842062[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 798207	NM_012470.4(TNPO3):c.2545A>G (p.Thr849Ala)	TNPO3 (T849A +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GConflicting classifications of pathogenicity
Select item 2437156	NM_012470.4(TNPO3):c.2537C>G (p.Pro846Arg)	TNPO3 (P782R +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2186304	NM_012470.4(TNPO3):c.2441A>G (p.Asp814Gly)	TNPO3 (D765G +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 285573	NM_012470.4(TNPO3):c.2431-2A>C	TNPO3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GUncertain significance
Select item 1477609	NM_012470.4(TNPO3):c.2333A>G (p.Gln778Arg)	TNPO3 (Q731R +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1435561	NM_012470.4(TNPO3):c.2185T>G (p.Cys729Gly)	TNPO3 (C665G +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437151	NM_012470.4(TNPO3):c.2145A>T (p.Glu715Asp)	TNPO3 (E651D +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437142	NM_012470.4(TNPO3):c.2080G>A (p.Val694Ile)	TNPO3 (V630I +7 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437148	NM_012470.4(TNPO3):c.1969C>T (p.Arg657Trp)	TNPO3 (R593W +6 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1044746	NM_012470.4(TNPO3):c.1874T>C (p.Ile625Thr)	TNPO3 (I576T +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 286472	NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val)	TNPO3 (I604V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2690247	NM_012470.4(TNPO3):c.1735G>A (p.Glu579Lys)	TNPO3 (E515K +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437154	NM_012470.4(TNPO3):c.1722G>C (p.Leu574Phe)	TNPO3 (L510F +6 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437141	NM_012470.4(TNPO3):c.1632T>G (p.Ile544Met)	TNPO3 (I495M +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1878223	NM_012470.4(TNPO3):c.1616A>G (p.Asn539Ser)	TNPO3 (N491S +5 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 1922909	NM_012470.4(TNPO3):c.1592G>A (p.Arg531Gln)	TNPO3 (R483Q +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1047254	NM_012470.4(TNPO3):c.1585G>C (p.Val529Leu)	TNPO3 (V480L +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 452305	NM_012470.4(TNPO3):c.1562A>G (p.Lys521Arg)	TNPO3 (K521R +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 2437153	NM_012470.4(TNPO3):c.1525G>C (p.Gly509Arg)	TNPO3 (G460R +5 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2434191	NM_012470.4(TNPO3):c.1423dup (p.Thr475fs)	TNPO3 (T426fs +5 more)	Duplication (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GLikely pathogenic
Select item 533435	NM_012470.4(TNPO3):c.1417G>A (p.Val473Ile)	TNPO3 (V473I +5 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 533433	NM_012470.4(TNPO3):c.1402C>T (p.Arg468Cys)	TNPO3 (R468C +5 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437158	NM_012470.4(TNPO3):c.1249A>G (p.Met417Val)	TNPO3 (M368V +3 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 2437152	NM_012470.4(TNPO3):c.1105A>G (p.Ile369Val)	TNPO3 (I321V +2 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GConflicting classifications of pathogenicity
Select item 1206928	NM_012470.4(TNPO3):c.991G>T (p.Ala331Ser)	TNPO3 (A283S +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 497830	NM_012470.4(TNPO3):c.975G>C (p.Glu325Asp)	TNPO3 (E325D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 499381	NM_012470.4(TNPO3):c.965G>A (p.Arg322Gln)	TNPO3 (R322Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 501962	NM_012470.4(TNPO3):c.964C>T (p.Arg322Ter)	TNPO3 (R322* +2 more)	Single nucleotide variant (nonsense +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 500907	NM_012470.4(TNPO3):c.862G>C (p.Asp288His)	TNPO3 (D288H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 285330	NM_012470.4(TNPO3):c.857G>A (p.Arg286His)	TNPO3 (R286H +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GConflicting classifications of pathogenicity
Select item 999931	NM_012470.4(TNPO3):c.856C>T (p.Arg286Cys)	TNPO3 (R238C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2162860	NM_012470.4(TNPO3):c.831G>C (p.Glu277Asp)	TNPO3 (E229D +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GConflicting classifications of pathogenicity
Select item 2437146	NM_012470.4(TNPO3):c.788T>G (p.Leu263Trp)	TNPO3 (L215W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2437150	NM_012470.4(TNPO3):c.761A>G (p.Tyr254Cys)	TNPO3 (Y206C +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 1405552	NM_012470.4(TNPO3):c.713C>T (p.Ser238Leu)	TNPO3 (S238L +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437144	NM_012470.4(TNPO3):c.668_672del (p.Lys223fs)	TNPO3 (K223fs +1 more)	Deletion (frameshift variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437145	NM_012470.4(TNPO3):c.643G>A (p.Asp215Asn)	TNPO3 (D215N +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437155	NM_012470.4(TNPO3):c.619A>G (p.Ser207Gly)	TNPO3 (S207G +1 more)	Single nucleotide variant (missense variant +2 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437147	NM_012470.4(TNPO3):c.533G>A (p.Ser178Asn)	TNPO3 (S178N +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1468240	NM_012470.4(TNPO3):c.525C>G (p.Phe175Leu)	TNPO3 (F175L +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437157	NM_012470.4(TNPO3):c.481A>G (p.Ile161Val)	TNPO3 (I161V +1 more)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2690246	NM_012470.4(TNPO3):c.472del (p.Ser158fs)	TNPO3 (S158fs +1 more)	Deletion (frameshift variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 2437149	NM_012470.4(TNPO3):c.201G>C (p.Met67Ile)	TNPO3 (M67I)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance
Select item 1323699	NM_012470.4(TNPO3):c.163C>T (p.Gln55Ter)	TNPO3 (Q55*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GPathogenic
Select item 594654	NM_012470.4(TNPO3):c.160C>T (p.Arg54Trp)	TNPO3 (R54W)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F +1 more	GUncertain significance
Select item 2437143	NM_012470.4(TNPO3):c.7G>A (p.Gly3Arg)	LOC129999289, TNPO3 (G3R)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant limb-girdle muscular dystrophy type 1F	GUncertain significance

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Items: 46