RPL18[gene] - ClinVar

Search results

Items: 100

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 146386	GRCh38/hg38 19q13.33(chr19:48577651-48839042)x3	BCAT2, CA11 +45 more	Copy number gain	See cases	GUncertain significance
Select item 2881433	NM_000979.4(RPL18):c.564C>T (p.Asn188=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876415	NM_000979.4(RPL18):c.550C>T (p.Arg184Ter)	RPL18 (R184* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2416443	NM_000979.4(RPL18):c.539G>A (p.Arg180Gln)	RPL18 (R151Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2763024	NM_000979.4(RPL18):c.526C>T (p.Arg176Cys)	RPL18 (R176C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2058557	NM_000979.4(RPL18):c.522C>T (p.Phe174=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2030120	NM_000979.4(RPL18):c.516G>A (p.Arg172=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2875572	NM_000979.4(RPL18):c.514C>T (p.Arg172Trp)	RPL18 (R172W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869545	NM_000979.4(RPL18):c.499G>A (p.Val167Ile)	RPL18 (V167I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2812366	NM_000979.4(RPL18):c.493C>T (p.Pro165Ser)	RPL18 (P165S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2781170	NM_000979.4(RPL18):c.492-3C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2841361	NM_000979.4(RPL18):c.492-8C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1995313	NM_000979.4(RPL18):c.492-12C>G	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2868779	NM_000979.4(RPL18):c.492-13C>G	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972306	NM_000979.4(RPL18):c.492-15del	RPL18	Deletion (intron variant)	not provided	GBenign
Select item 1971450	NM_000979.4(RPL18):c.492-16C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2086402	NM_000979.4(RPL18):c.492-19C>A	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781687	NM_000979.4(RPL18):c.491+13C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2182064	NM_000979.4(RPL18):c.480C>T (p.His160=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2748833	NM_000979.4(RPL18):c.478C>T (p.His160Tyr)	RPL18 (H160Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2776002	NM_000979.4(RPL18):c.476C>T (p.Pro159Leu)	RPL18 (P130L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2802058	NM_000979.4(RPL18):c.472A>G (p.Thr158Ala)	RPL18 (T129A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2600658	NM_000979.4(RPL18):c.457G>A (p.Gly153Ser)	RPL18 (G124S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2413928	NM_000979.4(RPL18):c.449G>A (p.Arg150Gln)	RPL18 (R121Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2293393	NM_000979.4(RPL18):c.448C>T (p.Arg150Trp)	RPL18 (R150W +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2895168	NM_000979.4(RPL18):c.437G>A (p.Arg146Gln)	RPL18 (R146Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2796154	NM_000979.4(RPL18):c.426T>A (p.Pro142=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 742006	NM_000979.4(RPL18):c.422-5C>A	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972116	NM_000979.4(RPL18):c.422-15C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011601	NM_000979.4(RPL18):c.421+17C>G	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1972320	NM_000979.4(RPL18):c.421+17C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2002124	NM_000979.4(RPL18):c.421+9T>G	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2899432	NM_000979.4(RPL18):c.420C>T (p.Ser140=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2893028	NM_000979.4(RPL18):c.402T>C (p.Cys134=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2754104	NM_000979.4(RPL18):c.369C>G (p.Phe123Leu)	RPL18 (F123L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2549899	NM_000979.4(RPL18):c.341T>G (p.Leu114Arg)	RPL18 (L114R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2535973	NM_000979.4(RPL18):c.334C>T (p.Arg112Cys)	RPL18 (R83C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2869957	NM_000979.4(RPL18):c.329G>A (p.Arg110His)	RPL18 (R110H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2198214	NM_000979.4(RPL18):c.323G>A (p.Arg108Gln)	RPL18 (R79Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2778215	NM_000979.4(RPL18):c.322C>T (p.Arg108Trp)	RPL18 (R79W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2870782	NM_000979.4(RPL18):c.320G>C (p.Ser107Thr)	RPL18 (S107T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 932434	NM_000979.4(RPL18):c.312C>T (p.Arg104=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2796542	NM_000979.4(RPL18):c.298-9C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851862	NM_000979.4(RPL18):c.298-19G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1286119	NM_000979.4(RPL18):c.297+48TGCTG[11]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1231533	NM_000979.4(RPL18):c.297+48TGCTG[10]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1226288	NM_000979.4(RPL18):c.297+48TGCTG[8]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 1223034	NM_000979.4(RPL18):c.297+48TGCTG[9]	RPL18	Microsatellite (intron variant)	not provided	GBenign
Select item 2871486	NM_000979.4(RPL18):c.297+18G>C	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2852944	NM_000979.4(RPL18):c.297+15G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971379	NM_000979.4(RPL18):c.297+11G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2037536	NM_000979.4(RPL18):c.297+10C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1971305	NM_000979.4(RPL18):c.285A>G (p.Val95=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 725853	NM_000979.4(RPL18):c.240C>T (p.Ala80=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2052563	NM_000979.4(RPL18):c.239C>T (p.Ala80Val)	RPL18 (A51V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2210444	NM_000979.4(RPL18):c.236C>T (p.Thr79Met)	RPL18 (T50M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2268815	NM_000979.4(RPL18):c.227A>G (p.Glu76Gly)	RPL18 (E47G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1971970	NM_000979.4(RPL18):c.204G>A (p.Arg68=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1972785	NM_000979.4(RPL18):c.202C>T (p.Arg68Trp)	RPL18 (R39W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 741689	NM_000979.4(RPL18):c.199-6C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2876211	NM_000979.4(RPL18):c.199-12C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1266891	NM_000979.4(RPL18):c.199-182dup	RPL18	Duplication (intron variant)	not provided	GBenign
Select item 1229438	NM_000979.4(RPL18):c.198+139G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2067459	NM_000979.4(RPL18):c.186C>A (p.Ser62=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	RPL18-related condition +1 more	GLikely benign
Select item 2169210	NM_000979.4(RPL18):c.183G>T (p.Leu61=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2871912	NM_000979.4(RPL18):c.181C>G (p.Leu61Val)	RPL18 (L61V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2852809	NM_000979.4(RPL18):c.177G>A (p.Pro59=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 617666	NM_000979.4(RPL18):c.152T>C (p.Leu51Ser)	RPL18 (L51S +1 more)	Single nucleotide variant (missense variant +1 more)	Diamond-Blackfan anemia 18	GPathogenic
Select item 750987	NM_000979.4(RPL18):c.142T>C (p.Leu48=)	RPL18	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 709321	NM_000979.4(RPL18):c.91-4C>T	RPL18	Single nucleotide variant (intron variant)	RPL18-related condition +1 more	GLikely benign
Select item 2183549	NM_000979.4(RPL18):c.91-6C>G	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2163143	NM_000979.4(RPL18):c.91-10G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867568	NM_000979.4(RPL18):c.91-11C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870058	NM_000979.4(RPL18):c.91-18G>A	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222351	NM_000979.4(RPL18):c.91-94A>C	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2188601	NM_000979.4(RPL18):c.51G>A (p.Glu17=)	RPL18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 726616	NM_000979.4(RPL18):c.42G>C (p.Arg14=)	RPL18	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2071115	NM_000979.4(RPL18):c.30C>A (p.Asp10Glu)	RPL18 (D10E)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GLikely benign
Select item 2532570	NM_000979.4(RPL18):c.16C>T (p.Arg6Cys)	RPL18 (R6C)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2036609	NM_000979.4(RPL18):c.8T>C (p.Val3Ala)	RPL18 (V3A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 756702	NM_000979.4(RPL18):c.6A>G (p.Gly2=)	RPL18	Single nucleotide variant (synonymous variant +2 more)	RPL18-related condition +1 more	GBenign/Likely benign
Select item 2746661	NM_000979.4(RPL18):c.4-3C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2804924	NM_000979.4(RPL18):c.4-5del	RPL18	Deletion (intron variant)	not provided	GBenign
Select item 3030413	NM_000979.4(RPL18):c.4-7C>T	RPL18	Single nucleotide variant (intron variant)	RPL18-related condition	GLikely benign
Select item 1257922	NM_000979.4(RPL18):c.4-173C>T	RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278074	NM_000979.4(RPL18):c.3+150A>G	LOC130064867, RPL18	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3034834	NM_000979.4(RPL18):c.-4C>T	LOC130064867, RPL18	Single nucleotide variant (5 prime UTR variant +1 more)	RPL18-related condition	GLikely benign
Select item 3062398	GRCh37/hg19 19q13.33-13.41(chr19:48905537-51614930)x3	ACP4, ADM5 +118 more	Copy number gain	not specified	GLikely pathogenic
Select item 2423445	NC_000019.9:g.(?_49118629)_(49120101_?)dup	RPL18	Duplication	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 980767	GRCh37/hg19 19q13.33(chr19:48854319-49430535)x3	BCAT2, CA11 +26 more	Copy number gain	not provided	GLikely pathogenic
Select item 972980	GRCh37/hg19 19q13.32-13.42(chr19:47939842-54626871)	FUZ, GARIN5A +228 more	Copy number gain	not provided	Gnot provided
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 688109	GRCh37/hg19 19q13.33(chr19:48119589-49595956)x3	BAX, BCAT2 +58 more	Copy number gain	not provided	GUncertain significance
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic

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Items: 100