MRPS23[gene] and "single gene"[properties] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239385	NM_016070.4(MRPS23):c.549G>A (p.Gln183=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3030896	NM_016070.4(MRPS23):c.540T>C (p.Pro180=)	MRPS23	Single nucleotide variant (synonymous variant)	MRPS23-related disorder	GLikely benign
Select item 2170237	NM_016070.4(MRPS23):c.539_540delinsGG (p.Pro180Arg)	MRPS23 (P180R)	Indel (missense variant)	not provided	GUncertain significance
Select item 2354361	NM_016070.4(MRPS23):c.539C>G (p.Pro180Arg)	MRPS23 (P180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209083	NM_016070.4(MRPS23):c.499A>G (p.Thr167Ala)	MRPS23 (T167A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547862	NM_016070.4(MRPS23):c.486G>T (p.Leu162Phe)	MRPS23 (L162F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2721950	NM_016070.4(MRPS23):c.480T>C (p.Thr160=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3015744	NM_016070.4(MRPS23):c.453C>T (p.Ser151=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2204045	NM_016070.4(MRPS23):c.445C>T (p.Arg149Trp)	MRPS23 (R149W)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3296093	NM_016070.4(MRPS23):c.439G>A (p.Val147Ile)	MRPS23 (V147I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2917984	NM_016070.4(MRPS23):c.438C>T (p.His146=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1501180	NM_016070.4(MRPS23):c.438C>G (p.His146Gln)	MRPS23 (H146Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 778718	NM_016070.4(MRPS23):c.426C>T (p.His142=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1967604	NM_016070.4(MRPS23):c.421-8C>A	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2052525	NM_016070.4(MRPS23):c.420+20A>G	MRPS23	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804871	NM_016070.4(MRPS23):c.420+11_420+14del	MRPS23	Deletion (intron variant)	not provided	GLikely benign
Select item 3209080	NM_016070.4(MRPS23):c.416G>A (p.Arg139Lys)	MRPS23 (R139K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1380770	NM_016070.4(MRPS23):c.412G>A (p.Ala138Thr)	MRPS23 (A138T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1529603	NM_016070.4(MRPS23):c.408C>T (p.Gly136=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2172470	NM_016070.4(MRPS23):c.400C>T (p.Arg134Ter)	MRPS23 (R134*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2476946	NM_016070.4(MRPS23):c.368A>G (p.Lys123Arg)	MRPS23 (K123R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209074	NM_016070.4(MRPS23):c.345G>T (p.Glu115Asp)	MRPS23 (E115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2963075	NM_016070.4(MRPS23):c.337G>T (p.Asp113Tyr)	MRPS23 (D113Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3035966	NM_016070.4(MRPS23):c.315G>A (p.Glu105=)	MRPS23	Single nucleotide variant (synonymous variant)	MRPS23-related disorder	GLikely benign
Select item 1479427	NM_016070.4(MRPS23):c.292C>T (p.Arg98Trp)	MRPS23 (R98W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1613404	NM_016070.4(MRPS23):c.285C>T (p.Thr95=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3352127	NM_016070.4(MRPS23):c.241G>A (p.Gly81Ser)	MRPS23 (G81S)	Single nucleotide variant (missense variant)	MRPS23-related disorder	GLikely benign
Select item 2555474	NM_016070.4(MRPS23):c.218A>G (p.Lys73Arg)	MRPS23 (K73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1559406	NM_016070.4(MRPS23):c.215+14C>T	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1568719	NM_016070.4(MRPS23):c.215+12G>C	MRPS23	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2965929	NM_016070.4(MRPS23):c.207G>T (p.Arg69=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2469149	NM_016070.4(MRPS23):c.205C>T (p.Arg69Trp)	MRPS23 (R69W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296095	NM_016070.4(MRPS23):c.184G>A (p.Asp62Asn)	MRPS23 (D62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1553580	NM_016070.4(MRPS23):c.176C>A (p.Pro59His)	MRPS23 (P59H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2745247	NM_016070.4(MRPS23):c.166G>A (p.Ala56Thr)	MRPS23 (A56T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2017907	NM_016070.4(MRPS23):c.156A>G (p.Arg52=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012993	NM_016070.4(MRPS23):c.139C>G (p.Gln47Glu)	MRPS23 (Q47E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2150697	NM_016070.4(MRPS23):c.132C>G (p.Pro44=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1356580	NM_016070.4(MRPS23):c.125G>A (p.Arg42Lys)	MRPS23 (R42K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 985200	NM_016070.4(MRPS23):c.119C>T (p.Pro40Leu)	MRPS23 (P40L)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 46 +2 more	GConflicting classifications of pathogenicity
Select item 973976	NM_016070.4(MRPS23):c.119C>G (p.Pro40Arg)	MRPS23 (P40R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation deficiency 46	GPathogenic
Select item 3053497	NM_016070.4(MRPS23):c.111C>T (p.Ala37=)	MRPS23	Single nucleotide variant (synonymous variant)	MRPS23-related disorder	GLikely benign
Select item 1632663	NM_016070.4(MRPS23):c.63G>T (p.Arg21=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2309551	NM_016070.4(MRPS23):c.61C>G (p.Arg21Gly)	MRPS23 (R21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1596101	NM_016070.4(MRPS23):c.51G>A (p.Arg17=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2790664	NM_016070.4(MRPS23):c.45-19G>A	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978884	NM_016070.4(MRPS23):c.44+20G>A	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2119718	NM_016070.4(MRPS23):c.44+14G>C	MRPS23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1348587	NM_016070.4(MRPS23):c.41C>T (p.Ser14Phe)	MRPS23 (S14F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2169133	NM_016070.4(MRPS23):c.37T>A (p.Phe13Ile)	MRPS23 (F13I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589915	NM_016070.4(MRPS23):c.36C>T (p.Ile12=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3209069	NM_016070.4(MRPS23):c.33C>A (p.Ser11Arg)	MRPS23 (S11R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1521643	NM_016070.4(MRPS23):c.16C>T (p.Leu6=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1917337	NM_016070.4(MRPS23):c.6A>G (p.Ala2=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1900553	NM_016070.4(MRPS23):c.6A>C (p.Ala2=)	MRPS23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2426264	NC_000017.10:g.(?_55917144)_(55918641_?)dup	MRPS23	Duplication	not provided	GUncertain significance
Select item 2426263	NC_000017.10:g.(?_55926581)_(55927371_?)del	MRPS23	Deletion	not provided	GUncertain significance
Select item 1412017	NC_000017.10:g.(?_55926581)_(55927371_?)dup	MRPS23	Duplication	not provided	GUncertain significance

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Items: 58