RPL19[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 152111	GRCh38/hg38 17q12(chr17:39036037-39694679)x3	ARL5C, CACNB1 +50 more	Copy number gain	See cases	GLikely benign
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2888625	NM_000981.4(RPL19):c.1A>T (p.Met1Leu)	RPL19 (M1L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 964835	NM_000981.4(RPL19):c.2T>G (p.Met1Arg)	RPL19 (M1R)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1922342	NM_000981.4(RPL19):c.3G>C (p.Met1Ile)	RPL19 (M1I)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2419766	NM_000981.4(RPL19):c.5+6G>A	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2176056	NM_000981.4(RPL19):c.5+7G>A	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2159538	NM_000981.4(RPL19):c.5+8C>T	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2893683	NM_000981.4(RPL19):c.5+9G>A	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2901092	NM_000981.4(RPL19):c.5+10A>T	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2425619	NM_000981.4(RPL19):c.5+12C>G	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2428109	NM_000981.4(RPL19):c.5+18_5+20del	RPL19	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2425217	NM_000981.4(RPL19):c.5+17C>G	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1977015	NM_000981.4(RPL19):c.5+17C>T	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1589962	NM_000981.4(RPL19):c.5+18T>A	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1618321	NM_000981.4(RPL19):c.5+19C>T	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2428110	NM_000981.4(RPL19):c.5+20C>G	RPL19	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1618318	NM_000981.4(RPL19):c.6-20_6-18del	RPL19	Deletion (intron variant)	not provided	GLikely benign
Select item 1606888	NM_000981.4(RPL19):c.6-17G>C	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902476	NM_000981.4(RPL19):c.6-12C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893450	NM_000981.4(RPL19):c.6-10G>C	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2169613	NM_000981.4(RPL19):c.6-7dup	RPL19	Duplication (intron variant)	not provided	GLikely benign
Select item 2884059	NM_000981.4(RPL19):c.6-4C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968096	NM_000981.4(RPL19):c.11T>C (p.Leu4Pro)	RPL19 (L4P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2180134	NM_000981.4(RPL19):c.27G>A (p.Arg9=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1378002	NM_000981.4(RPL19):c.31G>T (p.Ala11Ser)	RPL19 (A9S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1913787	NM_000981.4(RPL19):c.33C>T (p.Ala11=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986140	NM_000981.4(RPL19):c.35C>G (p.Ser12Cys)	RPL19 (S12C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1376527	NM_000981.4(RPL19):c.38G>T (p.Ser13Ile)	RPL19 (S11I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1460673	NM_000981.4(RPL19):c.39T>C (p.Ser13=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2175633	NM_000981.4(RPL19):c.46C>T (p.Arg16Cys)	RPL19 (R16C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1035189	NM_000981.4(RPL19):c.46_47delinsAT (p.Arg16Ile)	RPL19 (R14I +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2892234	NM_000981.4(RPL19):c.51T>C (p.Cys17=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647712	NM_000981.4(RPL19):c.54C>G (p.Gly18=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1988388	NM_000981.4(RPL19):c.61A>G (p.Lys21Glu)	RPL19 (K19E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2647713	NM_000981.4(RPL19):c.70T>C (p.Leu24=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2647714	NM_000981.4(RPL19):c.72A>G (p.Leu24=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1589293	NM_000981.4(RPL19):c.90T>C (p.Asn30=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1657006	NM_000981.4(RPL19):c.93A>G (p.Glu31=)	RPL19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1103243	NM_000981.4(RPL19):c.96C>T (p.Ile32=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883643	NM_000981.4(RPL19):c.99C>T (p.Ala33=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1438797	NM_000981.4(RPL19):c.101A>G (p.Asn34Ser)	RPL19 (N32S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423303	NM_000981.4(RPL19):c.109T>G (p.Ser37Ala)	RPL19 (S35A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1578301	NM_000981.4(RPL19):c.112+8C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1428463	NM_000981.4(RPL19):c.112+8C>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902716	NM_000981.4(RPL19):c.112+16C>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2427566	NM_000981.4(RPL19):c.113-19G>A	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1964781	NM_000981.4(RPL19):c.113-12A>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1398346	NM_000981.4(RPL19):c.113-3C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2170371	NM_000981.4(RPL19):c.125G>A (p.Arg42Gln)	RPL19 (R40Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1765094	NM_000981.4(RPL19):c.126G>C (p.Arg42=)	RPL19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2885373	NM_000981.4(RPL19):c.167C>T (p.Thr56Met)	RPL19 (T54M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170733	NM_000981.4(RPL19):c.190C>A (p.Arg64=)	RPL19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign
Select item 2900008	NM_000981.4(RPL19):c.200C>T (p.Thr67Ile)	RPL19 (T65I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699761	NM_000981.4(RPL19):c.204G>C (p.Leu68Phe)	RPL19 (L66F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170760	NM_000981.4(RPL19):c.208C>T (p.Arg70Cys)	RPL19 (R68C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434039	NM_000981.4(RPL19):c.209G>A (p.Arg70His)	RPL19 (R68H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1786050	NM_000981.4(RPL19):c.210C>T (p.Arg70=)	RPL19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 2193610	NM_000981.4(RPL19):c.212G>A (p.Arg71Gln)	RPL19 (R69Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2893589	NM_000981.4(RPL19):c.216G>T (p.Lys72Asn)	RPL19 (K70N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170569	NM_000981.4(RPL19):c.222G>A (p.Arg74=)	RPL19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 3007985	NM_000981.4(RPL19):c.226A>G (p.Met76Val)	RPL19 (M74V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2169998	NM_000981.4(RPL19):c.235+3A>G	RPL19	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1576509	NM_000981.4(RPL19):c.235+9G>C	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987810	NM_000981.4(RPL19):c.235+12_235+13delinsGG	RPL19	Indel (intron variant)	not provided	GUncertain significance
Select item 2987811	NM_000981.4(RPL19):c.235+16T>A	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902714	NM_000981.4(RPL19):c.235+20_235+22del	RPL19	Deletion (intron variant)	not provided	GLikely benign
Select item 1572736	NM_000981.4(RPL19):c.235+18C>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2796221	NM_000981.4(RPL19):c.236-13A>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1600448	NM_000981.4(RPL19):c.236-11C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1654216	NM_000981.4(RPL19):c.236-8C>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886257	NM_000981.4(RPL19):c.291G>A (p.Arg97=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1429929	NM_000981.4(RPL19):c.311G>A (p.Arg104Gln)	RPL19 (R102Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415923	NM_000981.4(RPL19):c.312G>A (p.Arg104=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181950	NM_000981.4(RPL19):c.313C>T (p.Leu105=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2888677	NM_000981.4(RPL19):c.318C>T (p.Leu106=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1156658	NM_000981.4(RPL19):c.318C>G (p.Leu106=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2904991	NM_000981.4(RPL19):c.329G>A (p.Arg110His)	RPL19 (R108H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2002269	NM_000981.4(RPL19):c.332A>G (p.Glu111Gly)	RPL19 (E111G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3016807	NM_000981.4(RPL19):c.346G>A (p.Asp116Asn)	RPL19 (D116N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 960880	NM_000981.4(RPL19):c.350G>A (p.Arg117His)	RPL19 (R115H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1618439	NM_000981.4(RPL19):c.356+20C>A	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902774	NM_000981.4(RPL19):c.357-14C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2902253	NM_000981.4(RPL19):c.357-13G>A	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1348527	NM_000981.4(RPL19):c.357-6C>G	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1078368	NM_000981.4(RPL19):c.369G>A (p.Leu123=)	RPL19	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1990930	NM_000981.4(RPL19):c.380T>C (p.Val127Ala)	RPL19 (V125A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871472	NM_000981.4(RPL19):c.398A>G (p.Lys133Arg)	RPL19 (K131R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1666529	NM_000981.4(RPL19):c.426C>T (p.Ile142=)	RPL19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GLikely benign
Select item 1741550	NM_000981.4(RPL19):c.456G>A (p.Lys152=)	RPL19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia	GLikely benign
Select item 1586044	NM_000981.4(RPL19):c.467+17_467+18del	LOC129390868, RPL19	Microsatellite (intron variant)	not provided	GBenign
Select item 1129280	NM_000981.4(RPL19):c.468-9C>T	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1952839	NM_000981.4(RPL19):c.468-6G>A	RPL19	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1101490	NM_000981.4(RPL19):c.483C>T (p.Ala161=)	RPL19	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2170250	NM_000981.4(RPL19):c.524A>C (p.Glu175Ala)	RPL19 (E175A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1398345	NM_000981.4(RPL19):c.529C>T (p.Leu177Phe)	RPL19 (L177F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1166595	NM_000981.4(RPL19):c.534G>A (p.Gln178=)	RPL19	Single nucleotide variant (synonymous variant)	Diamond-Blackfan anemia +1 more	GBenign/Likely benign
Select item 1167858	NM_000981.4(RPL19):c.536C>T (p.Ala179Val)	RPL19 (A177V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign

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