"GeneDx"[submitter] AND "MRPL3"[gene] - ClinVar

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Items: 65

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 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 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 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 374558	NM_007208.4(MRPL3):c.931G>A (p.Gly311Ser)	MRPL3 (G311S)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
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 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 382151	NM_007208.4(MRPL3):c.782T>C (p.Met261Thr)	MRPL3 (M261T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 388273	NM_007208.4(MRPL3):c.739-7C>T	MRPL3	Single nucleotide variant (intron variant)	not specified	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 1314137	NM_007208.4(MRPL3):c.707C>G (p.Thr236Ser)	MRPL3 (T236S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 provided +1 more	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 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 507088	NM_007208.4(MRPL3):c.534C>A (p.Ile178=)	MRPL3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 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 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 1218202	NM_007208.4(MRPL3):c.350A>G (p.His117Arg)	MRPL3 (H117R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1339591	NM_007208.4(MRPL3):c.102C>G (p.Ile34Met)	MRPL3 (I34M)	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 1200234	NM_007208.4(MRPL3):c.93-85T>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1205770	NM_007208.4(MRPL3):c.93-233G>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201968	NM_007208.4(MRPL3):c.93-261T>G	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179579	NM_007208.4(MRPL3):c.92+294C>T	MRPL3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2220031	NM_007208.4(MRPL3):c.61G>C (p.Gly21Arg)	LOC105374114, MRPL3 (G21R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1203433	NM_007208.4(MRPL3):c.-126_-125insCGGCCGT	LOC105374114, MRPL3	Insertion (5 prime UTR variant)	not provided	GLikely benign
Select item 3362012	NM_007208.4(MRPL3):c.851A>G (p.Tyr284Cys)	MRPL3 (Y284C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676388	NM_007208.4(MRPL3):c.918A>G (p.Ala306=)	MRPL3	Single nucleotide variant	not provided	GLikely benign

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Items: 65