"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MRPL3"[ - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 425313	NM_007208.4(MRPL3):c.1033A>G (p.Ile345Val)	MRPL3 (I345V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983989	NM_007208.4(MRPL3):c.1009G>A (p.Val337Met)	MRPL3 (V337M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1203624	NM_007208.4(MRPL3):c.985C>T (p.Pro329Ser)	MRPL3 (P329S)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 704125	NM_007208.4(MRPL3):c.954A>G (p.Thr318=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 386054	NM_007208.4(MRPL3):c.945A>G (p.Pro315=)	MRPL3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1905248	NM_007208.4(MRPL3):c.938A>C (p.Asn313Thr)	MRPL3 (N313T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 374558	NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser)	MRPL3 (G311S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 507991	NM_007208.4(MRPL3):c.894+7A>G	MRPL3	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 380562	NM_007208.4(MRPL3):c.886T>C (p.Leu296=)	MRPL3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 507537	NM_007208.4(MRPL3):c.885C>T (p.Cys295=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1027733	NM_007208.4(MRPL3):c.862T>C (p.Ser288Pro)	MRPL3 (S288P)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9 +1 more	GUncertain significance
Select item 1987911	NM_007208.4(MRPL3):c.824G>A (p.Arg275Lys)	MRPL3 (R275K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 380042	NM_007208.4(MRPL3):c.816+12A>C	MRPL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1938087	NM_007208.4(MRPL3):c.816+7_816+8del	MRPL3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 382151	NM_007208.4(MRPL3):c.782T>C (p.Met261Thr)	MRPL3 (M261T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 1968773	NM_007208.4(MRPL3):c.767A>C (p.Lys256Thr)	MRPL3 (K256T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802522	NM_007208.4(MRPL3):c.739-19C>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2188677	NM_007208.4(MRPL3):c.734C>G (p.Thr245Ser)	MRPL3 (T245S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1942948	NM_007208.4(MRPL3):c.724G>A (p.Ala242Thr)	MRPL3 (A242T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416861	NM_007208.4(MRPL3):c.690G>A (p.Thr230=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 384979	NM_007208.4(MRPL3):c.630-15G>A	MRPL3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1384239	NM_007208.4(MRPL3):c.629+15C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2136583	NM_007208.4(MRPL3):c.603A>G (p.Gly201=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1366875	NM_007208.4(MRPL3):c.595C>T (p.Arg199Cys)	MRPL3 (R199C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1992449	NM_007208.4(MRPL3):c.548A>T (p.Asp183Val)	MRPL3 (D183V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2826976	NM_007208.4(MRPL3):c.512C>T (p.Pro171Leu)	MRPL3 (P171L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1488565	NM_007208.4(MRPL3):c.506G>T (p.Gly169Val)	MRPL3 (G169V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170109	NM_007208.4(MRPL3):c.398C>T (p.Thr133Met)	MRPL3 (T133M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2708440	NM_007208.4(MRPL3):c.369+20C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 764812	NM_007208.4(MRPL3):c.357C>T (p.Val119=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1218202	NM_007208.4(MRPL3):c.350A>G (p.His117Arg)	MRPL3 (H117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 388264	NM_007208.4(MRPL3):c.277+18G>A	MRPL3	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 2999495	NM_007208.4(MRPL3):c.277+7A>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 381851	NM_007208.4(MRPL3):c.277+4A>C	MRPL3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 703970	NM_007208.4(MRPL3):c.224G>A (p.Ser75Asn)	MRPL3 (S75N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1948097	NM_007208.4(MRPL3):c.214C>T (p.Gln72Ter)	MRPL3 (Q72*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 706810	NM_007208.4(MRPL3):c.195C>T (p.Val65=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2057374	NM_007208.4(MRPL3):c.189G>T (p.Gln63His)	MRPL3 (Q63H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2038050	NM_007208.4(MRPL3):c.121C>A (p.Leu41Ile)	MRPL3 (L41I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 384709	NM_007208.4(MRPL3):c.102C>T (p.Ile34=)	MRPL3	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2970013	NM_007208.4(MRPL3):c.92+20T>C	LOC105374114, MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1651813	NM_007208.4(MRPL3):c.45G>A (p.Leu15=)	LOC105374114, MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	MBD4, MCM2 +109 more	Deletion	Alkaptonuria	GPathogenic

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Items: 43