ClinVar for Gene (Select 10573) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 95

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3295998	NM_006428.5(MRPL28):c.209A>G (p.Tyr70Cys)	MRPL28 (Y70C)	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 3295996	NM_006428.5(MRPL28):c.511C>T (p.Arg171Trp)	MRPL28 (R171W)	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 3207319	NM_006428.5(MRPL28):c.626A>C (p.Glu209Ala)	MRPL28 (E209A)	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 3207311	NM_006428.5(MRPL28):c.503G>A (p.Arg168Gln)	MRPL28 (R168Q)	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 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 3207278	NM_006428.5(MRPL28):c.22G>C (p.Val8Leu)	MRPL28 (V8L)	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 3207272	NM_006428.5(MRPL28):c.187G>A (p.Glu63Lys)	MRPL28 (E63K)	Single nucleotide variant (missense variant)	not specified	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 2598277	NM_006428.5(MRPL28):c.502C>T (p.Arg168Trp)	MRPL28 (R168W)	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 2528634	NM_006428.5(MRPL28):c.687C>G (p.Ile229Met)	MRPL28 (I229M)	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 2477522	NM_006428.5(MRPL28):c.280A>C (p.Asn94His)	MRPL28 (N94H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2391144	NM_006428.5(MRPL28):c.159C>G (p.Asn53Lys)	MRPL28 (N53K)	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 2366015	NM_006428.5(MRPL28):c.466A>C (p.Lys156Gln)	MRPL28 (K156Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2286754	NM_006428.5(MRPL28):c.681C>G (p.Phe227Leu)	MRPL28 (F227L)	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 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 714602	NM_006428.5(MRPL28):c.423C>G (p.Leu141=)	MRPL28	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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
Select item 155642	GRCh38/hg38 16p13.3(chr16:35880-605262)x1	ARHGDIG, AXIN1 +59 more	Copy number loss	See cases	GUncertain significance
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	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 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 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 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 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 more	Copy number gain	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 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
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 58598	GRCh38/hg38 16p13.3(chr16:239680-589745)x3	ARHGDIG, AXIN1 +34 more	Copy number gain	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 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	ABAT, ABCA3 +822 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 95