MRPL3[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 150380	GRCh38/hg38 3q22.1-23(chr3:130401265-139005019)x1	A4GNT, ACAD11 +212 more	Copy number loss	See cases	GPathogenic
Select item 1193072	NM_007208.4(MRPL3):c.*86C>T	MRPL3	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 3207331	NM_007208.4(MRPL3):c.1021G>C (p.Gly341Arg)	MRPL3 (G341R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331996	NM_007208.4(MRPL3):c.1019C>T (p.Pro340Leu)	MRPL3 (P340L)	Single nucleotide variant (missense variant)	not specified	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 681599	NM_007208.4(MRPL3):c.981A>G (p.Glu327=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 704125	NM_007208.4(MRPL3):c.954A>G (p.Thr318=)	MRPL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 30643	NM_007208.4(MRPL3):c.950C>G (p.Pro317Arg)	MRPL3 (P317R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 2294630	NM_007208.4(MRPL3):c.902A>G (p.Asp301Gly)	MRPL3 (D301G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1239761	NM_007208.4(MRPL3):c.894+41del	MRPL3	Deletion (intron variant)	not provided	GBenign
Select item 1292149	NM_007208.4(MRPL3):c.894+27del	MRPL3	Deletion (intron variant)	not provided	GBenign
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 441035	NM_007208.4(MRPL3):c.884G>C (p.Cys295Ser)	MRPL3 (C295S)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	Gnot provided
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 1211509	NM_007208.4(MRPL3):c.816+282A>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217728	NM_007208.4(MRPL3):c.816+222T>C	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198044	NM_007208.4(MRPL3):c.816+139GT[13]	MRPL3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1259936	NM_007208.4(MRPL3):c.816+139GT[11]	MRPL3	Microsatellite (intron variant)	not provided	GBenign
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 2509787	NM_007208.4(MRPL3):c.806A>G (p.Tyr269Cys)	MRPL3 (Y269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3052105	NM_007208.4(MRPL3):c.804A>G (p.Glu268=)	MRPL3	Single nucleotide variant (synonymous variant)	MRPL3-related disorder	GLikely benign
Select item 2582496	NM_007208.4(MRPL3):c.793T>C (p.Tyr265His)	MRPL3 (Y265H)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	GUncertain significance
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 388273	NM_007208.4(MRPL3):c.739-7C>T	MRPL3	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 2802522	NM_007208.4(MRPL3):c.739-19C>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195623	NM_007208.4(MRPL3):c.738+267T>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247719	NM_007208.4(MRPL3):c.738+68C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 675563	NM_007208.4(MRPL3):c.738+43A>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1314137	NM_007208.4(MRPL3):c.707C>G (p.Thr236Ser)	MRPL3 (T236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2524558	NM_007208.4(MRPL3):c.692A>G (p.His231Arg)	MRPL3 (H231R)	Single nucleotide variant (missense variant)	not specified	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 1800810	NM_007208.4(MRPL3):c.665G>A (p.Trp222Ter)	MRPL3 (W222*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
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 1205615	NM_007208.4(MRPL3):c.630-302C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178224	NM_007208.4(MRPL3):c.629+222dup	MRPL3	Duplication (intron variant)	not provided	GLikely benign
Select item 1211757	NM_007208.4(MRPL3):c.629+231del	MRPL3	Deletion (intron variant)	not provided	GLikely benign
Select item 1384239	NM_007208.4(MRPL3):c.629+15C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 489330	NM_007208.4(MRPL3):c.629+1G>A	MRPL3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1304961	NM_007208.4(MRPL3):c.611T>G (p.Val204Gly)	MRPL3 (V204G)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2486620	NM_007208.4(MRPL3):c.607T>C (p.Tyr203His)	MRPL3 (Y203H)	Single nucleotide variant (missense variant)	not specified	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 418312	NM_007208.4(MRPL3):c.571A>C (p.Thr191Pro)	MRPL3 (T191P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 678609	NM_007208.4(MRPL3):c.568+232G>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245756	NM_007208.4(MRPL3):c.568+141del	MRPL3	Deletion (intron variant)	not provided	GBenign
Select item 3296000	NM_007208.4(MRPL3):c.556G>A (p.Ala186Thr)	MRPL3 (A186T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207356	NM_007208.4(MRPL3):c.554C>T (p.Ala185Val)	MRPL3 (A185V)	Single nucleotide variant (missense variant)	not provided +1 more	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 507088	NM_007208.4(MRPL3):c.534C>A (p.Ile178=)	MRPL3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 2488053	NM_007208.4(MRPL3):c.497G>A (p.Arg166Gln)	MRPL3 (R166Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2574363	NM_007208.4(MRPL3):c.467G>A (p.Arg156His)	MRPL3 (R156H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3207345	NM_007208.4(MRPL3):c.460C>T (p.Arg154Cys)	MRPL3 (R154C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2444448	NM_007208.4(MRPL3):c.413_414del (p.Asn137_Cys138insTer)	MRPL3	Deletion (nonsense)	Neonatal encephalopathy	GLikely pathogenic
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 2244767	NM_007208.4(MRPL3):c.395A>G (p.Tyr132Cys)	MRPL3 (Y132C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3341348	NM_007208.4(MRPL3):c.379T>C (p.Cys127Arg)	MRPL3 (C127R)	Single nucleotide variant (missense variant)	Combined oxidative phosphorylation defect type 9	GUncertain significance
Select item 2213722	NM_007208.4(MRPL3):c.370G>A (p.Val124Ile)	MRPL3 (V124I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1185729	NM_007208.4(MRPL3):c.370-75G>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270448	NM_007208.4(MRPL3):c.370-87A>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678513	NM_007208.4(MRPL3):c.370-197C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257016	NM_007208.4(MRPL3):c.369+235_369+237del	MRPL3	Deletion (intron variant)	not provided	GBenign
Select item 678512	NM_007208.4(MRPL3):c.369+204G>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679100	NM_007208.4(MRPL3):c.369+192C>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676946	NM_007208.4(MRPL3):c.369+148T>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3207337	NM_007208.4(MRPL3):c.328T>C (p.Trp110Arg)	MRPL3 (W110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619363	NM_007208.4(MRPL3):c.284T>C (p.Phe95Ser)	MRPL3 (F95S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3050878	NM_007208.4(MRPL3):c.278-4C>T	MRPL3	Single nucleotide variant (intron variant)	MRPL3-related disorder	GLikely benign
Select item 1201483	NM_007208.4(MRPL3):c.277+254C>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 682626	NM_007208.4(MRPL3):c.277+251A>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 676830	NM_007208.4(MRPL3):c.277+147T>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268680	NM_007208.4(MRPL3):c.277+122G>A	MRPL3	Single nucleotide variant (intron variant)	not provided	GBenign
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 1707943	NM_007208.4(MRPL3):c.217T>A (p.Leu73Ile)	MRPL3 (L73I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1948097	NM_007208.4(MRPL3):c.214C>T (p.Gln72Ter)	MRPL3 (Q72*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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