MRPL28[gene] - ClinVar

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Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 148917	GRCh38/hg38 16p13.3(chr16:46766-882211)x1	NHLRC4, NME4 +119 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	See cases	GPathogenic
Select item 145053	GRCh38/hg38 16p13.3(chr16:350651-396961)x3	AXIN1, LOC100134368 +11 more	Copy number gain	See cases	GBenign
Select item 145052	GRCh38/hg38 16p13.3(chr16:350651-396961)x4	AXIN1, LOC100134368 +11 more	Copy number gain	See cases	GBenign
Select item 2528634	NM_006428.5(MRPL28):c.687C>G (p.Ile229Met)	MRPL28 (I229M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286754	NM_006428.5(MRPL28):c.681C>G (p.Phe227Leu)	MRPL28 (F227L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207319	NM_006428.5(MRPL28):c.626A>C (p.Glu209Ala)	MRPL28 (E209A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295997	NM_006428.5(MRPL28):c.620C>T (p.Thr207Met)	MRPL28 (T207M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254104	NM_006428.5(MRPL28):c.610G>A (p.Val204Met)	MRPL28 (V204M)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2343876	NM_006428.5(MRPL28):c.547C>T (p.Arg183Trp)	MRPL28 (R183W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207314	NM_006428.5(MRPL28):c.535G>A (p.Glu179Lys)	MRPL28 (E179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295996	NM_006428.5(MRPL28):c.511C>T (p.Arg171Trp)	MRPL28 (R171W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207311	NM_006428.5(MRPL28):c.503G>A (p.Arg168Gln)	MRPL28 (R168Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598277	NM_006428.5(MRPL28):c.502C>T (p.Arg168Trp)	MRPL28 (R168W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295999	NM_006428.5(MRPL28):c.493A>C (p.Met165Leu)	MRPL28 (M165L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207306	NM_006428.5(MRPL28):c.488G>A (p.Arg163Gln)	MRPL28 (R163Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366015	NM_006428.5(MRPL28):c.466A>C (p.Lys156Gln)	MRPL28 (K156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 714602	NM_006428.5(MRPL28):c.423C>G (p.Leu141=)	MRPL28	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3207298	NM_006428.5(MRPL28):c.386T>C (p.Met129Thr)	MRPL28 (M129T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207294	NM_006428.5(MRPL28):c.323A>G (p.Gln108Arg)	MRPL28 (Q108R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477522	NM_006428.5(MRPL28):c.280A>C (p.Asn94His)	MRPL28 (N94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367080	NM_006428.5(MRPL28):c.262G>A (p.Gly88Ser)	MRPL28 (G88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207275	NM_006428.5(MRPL28):c.228G>C (p.Gln76His)	MRPL28 (Q76H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211921	NM_006428.5(MRPL28):c.214C>T (p.Pro72Ser)	MRPL28 (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3295998	NM_006428.5(MRPL28):c.209A>G (p.Tyr70Cys)	MRPL28 (Y70C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207272	NM_006428.5(MRPL28):c.187G>A (p.Glu63Lys)	MRPL28 (E63K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 254105	NM_006428.5(MRPL28):c.176G>C (p.Arg59Pro)	MRPL28 (R59P)	Single nucleotide variant (missense variant)	Oromandibular-limb hypogenesis spectrum	GLikely benign
Select item 2391144	NM_006428.5(MRPL28):c.159C>G (p.Asn53Lys)	MRPL28 (N53K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555568	NM_006428.5(MRPL28):c.158A>C (p.Asn53Thr)	MRPL28 (N53T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554444	NM_006428.5(MRPL28):c.112C>T (p.Pro38Ser)	MRPL28 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511652	NM_006428.5(MRPL28):c.25T>A (p.Trp9Arg)	MRPL28 (W9R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3207278	NM_006428.5(MRPL28):c.22G>C (p.Val8Leu)	MRPL28 (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 2685537	GRCh37/hg19 16p13.3(chr16:85881-470832)x1	ARHGDIG, AXIN1 +18 more	Copy number loss	not provided	GUncertain significance
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance
Select item 2425969	NC_000016.9:g.(?_256302)_(1657267_?)del	ANTKMT, ARHGDIG +55 more	Deletion	not provided	GPathogenic
Select item 2425037	NC_000016.9:g.(?_256302)_(4852572_?)dup	TIGD7, TMEM204 +170 more	Duplication	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 2425036	NC_000016.9:g.(?_256302)_(633035_?)del	ARHGDIG, AXIN1 +13 more	Deletion	Epilepsy	GPathogenic
Select item 2425034	NC_000016.9:g.(?_289853)_(626274_?)dup	ARHGDIG, AXIN1 +12 more	Duplication	Epilepsy	GUncertain significance
Select item 1808731	GRCh37/hg19 16p13.3(chr16:85881-1350186)x1	ANTKMT, ARHGDIG +53 more	Copy number loss	not provided	GPathogenic
Select item 1710928	GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 1526481	GRCh37/hg19 16p13.3(chr16:85880-1468828)	ANTKMT, MRPL28 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526480	GRCh37/hg19 16p13.3(chr16:85880-754083)	WDR90, WFIKKN1 +34 more	Copy number loss	not specified	GPathogenic
Select item 1180508	GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	JPT2, KCTD5 +188 more	Copy number gain	not provided	GPathogenic
Select item 980576	GRCh37/hg19 16p13.3(chr16:256384-542814)x3	MRPL28, FAM234A +9 more	Copy number gain	not provided	GUncertain significance
Select item 980573	GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	ABCA3, ADCY9 +188 more	Copy number gain	not provided	GPathogenic
Select item 815769	GRCh37/hg19 16p13.3(chr16:364182-1186480)x3	PRR25, LMF1 +33 more	Copy number gain	not provided	GUncertain significance
Select item 815768	GRCh37/hg19 16p13.3(chr16:205271-589830)x3	NME4, CAPN15 +14 more	Copy number gain	not provided	GUncertain significance
Select item 815767	GRCh37/hg19 16p13.3(chr16:106988-735154)x3	PRR35, AXIN1 +32 more	Copy number gain	not provided	GUncertain significance
Select item 815766	GRCh37/hg19 16p13.3(chr16:85880-1166355)x1	SNRNP25, C1QTNF8 +48 more	Copy number loss	not provided	GPathogenic
Select item 688969	GRCh37/hg19 16p13.3(chr16:390858-546267)x1	AXIN1, DECR2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 688348	GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	ANTKMT, ARHGDIG +89 more	Copy number loss	not provided	GPathogenic
Select item 687431	GRCh37/hg19 16p13.3(chr16:85880-1468459)x1	ANTKMT, ARHGDIG +58 more	Copy number loss	not provided	GPathogenic
Select item 685952	GRCh37/hg19 16p13.3(chr16:85880-830613)x1	ANTKMT, ARHGDIG +40 more	Copy number loss	not provided	GPathogenic
Select item 625723	GRCh37/hg19 16p13.3(chr16:109978-4316797)	ABCA3, ADCY9 +159 more	Copy number gain	Chromosome 16p13.3 duplication syndrome	GPathogenic
Select item 564255	GRCh37/hg19 16p13.3(chr16:293387-614930)x1	PGAP6, PDIA2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 564254	GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	ABAT, ABCA3 +206 more	Copy number gain	not provided	GPathogenic
Select item 564253	GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	ABCA3, AMDHD2 +139 more	Copy number gain	not provided	GPathogenic
Select item 564252	GRCh37/hg19 16p13.3(chr16:85880-1875694)x1	PDIA2, POLR3K +75 more	Copy number loss	not provided	GPathogenic
Select item 564251	GRCh37/hg19 16p13.3(chr16:85880-1498731)x1	PGAP6, TSR3 +61 more	Copy number loss	not provided	GPathogenic
Select item 443477	GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	ABAT, ABCA3 +198 more	Copy number gain	See cases	GPathogenic
Select item 443353	GRCh37/hg19 16p13.3(chr16:85880-546267)x3	ARHGDIG, AXIN1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 443183	GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	ABAT, ABCA3 +295 more	Copy number gain	See cases	GPathogenic
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442872	GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	PRSS27, PRSS33 +263 more	Copy number gain	See cases	GPathogenic
Select item 442602	GRCh37/hg19 16p13.3(chr16:106859-735154)x3	ARHGDIG, AXIN1 +32 more	Copy number gain	See cases	GUncertain significance
Select item 441754	GRCh37/hg19 16p13.3(chr16:85880-643107)x1	HBA1, HBA2 +24 more	Copy number loss	See cases	GPathogenic
Select item 395719	GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	CLDN6, CLDN9 +196 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394840	GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	ABCA3, ADCY9 +187 more	Copy number gain	See cases	GPathogenic
Select item 253809	GRCh37/hg19 16p13.3(chr16:239130-841725)x3	STUB1, CIAO3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 253622	GRCh37/hg19 16p13.3(chr16:72769-1511716)x1	CCDC154, CCDC78 +61 more	Copy number loss	See cases	GPathogenic
Select item 252979	GRCh37/hg19 16p13.3(chr16:88165-1715454)x1	ANTKMT, ARHGDIG +66 more	Copy number loss	See cases	GPathogenic
Select item 221508	GRCh37/hg19 16p13.3(chr16:324072-705832)x3	PRR35, AXIN1 +16 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221390	GRCh37/hg19 16p13.3(chr16:97494-1257060)x3	ANTKMT, ARHGDIG +49 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 219021	GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	ABAT, ABCA3 +330 more	Copy number gain	See cases	GPathogenic

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Items: 95