MRPS30[gene] - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	LOC123497907, LOC123497908 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	CLPTM1L, CMBL +953 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	LOC129993840, LOC129993841 +952 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 148227	GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3	ACTBL2, ANKRD55 +518 more	Copy number gain	See cases	GPathogenic
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1707451	Single allele	FGF10, FGF10-AS1 +5 more	Duplication	not specified	GUncertain significance
Select item 2620271	NM_016640.4(MRPS30):c.7G>C (p.Ala3Pro)	MRPS30 (A3P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354900	NM_016640.4(MRPS30):c.8C>T (p.Ala3Val)	MRPS30 (A3V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226007	NM_016640.4(MRPS30):c.14G>A (p.Arg5Lys)	MRPS30 (R5K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475792	NM_016640.4(MRPS30):c.155C>T (p.Thr52Ile)	MRPS30 (T52I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2518446	NM_016640.4(MRPS30):c.190G>A (p.Glu64Lys)	MRPS30 (E64K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309145	NM_016640.4(MRPS30):c.238C>A (p.Leu80Met)	MRPS30 (L80M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552271	NM_016640.4(MRPS30):c.311G>A (p.Arg104His)	MRPS30 (R104H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209299	NM_016640.4(MRPS30):c.334A>G (p.Thr112Ala)	MRPS30 (T112A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2655453	NM_016640.4(MRPS30):c.372GCCCGA[4] (p.Pro135_Ala136insGluPro)	MRPS30	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2300129	NM_016640.4(MRPS30):c.376G>A (p.Glu126Lys)	MRPS30 (E126K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351419	NM_016640.4(MRPS30):c.484C>G (p.Arg162Gly)	MRPS30 (R162G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281558	NM_016640.4(MRPS30):c.635G>T (p.Arg212Leu)	MRPS30 (R212L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 585040	NM_016640.4(MRPS30):c.674G>A (p.Arg225Gln)	MRPS30 (R225Q)	Single nucleotide variant (missense variant)	not provided	Gnot provided
Select item 2609456	NM_016640.4(MRPS30):c.720G>T (p.Gln240His)	MRPS30 (Q240H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456840	NM_016640.4(MRPS30):c.742G>A (p.Ala248Thr)	MRPS30 (A248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543848	NM_016640.4(MRPS30):c.787A>T (p.Thr263Ser)	MRPS30 (T263S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209318	NM_016640.4(MRPS30):c.898C>T (p.His300Tyr)	MRPS30 (H300Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209320	NM_016640.4(MRPS30):c.985A>G (p.Ile329Val)	MRPS30 (I329V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495995	NM_016640.4(MRPS30):c.988G>T (p.Ala330Ser)	MRPS30 (A330S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209263	NM_016640.4(MRPS30):c.1034T>G (p.Phe345Cys)	MRPS30 (F345C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461566	NM_016640.4(MRPS30):c.1057C>G (p.Arg353Gly)	MRPS30 (R353G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480721	NM_016640.4(MRPS30):c.1156A>C (p.Asn386His)	MRPS30 (N386H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209270	NM_016640.4(MRPS30):c.1186A>G (p.Thr396Ala)	MRPS30 (T396A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2559687	NM_016640.4(MRPS30):c.1213A>G (p.Ile405Val)	MRPS30 (I405V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473977	NM_016640.4(MRPS30):c.1249G>A (p.Val417Ile)	MRPS30 (V417I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062867	GRCh37/hg19 5p12(chr5:44724513-45359250)x3	HCN1, MRPS30	Copy number gain	not specified	GUncertain significance
Select item 3062821	GRCh37/hg19 5p12-11(chr5:43949281-46116307)x1	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 2684413	GRCh37/hg19 5p12(chr5:43680944-45642977)x3	FGF10, HCN1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1705919	GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3	ANXA2R, C5orf34 +45 more	Copy number gain	musculoskeletal system issues	GPathogenic
Select item 1527162	GRCh37/hg19 5p12-11(chr5:43972062-46101844)	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527161	GRCh37/hg19 5p12-11(chr5:43855245-46389339)	FGF10, HCN1 +1 more	Copy number loss	not specified	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1042586	NC_000005.9:g.(?_44305097)_(45696195_?)dup	FGF10, HCN1 +1 more	Duplication	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 979499	GRCh37/hg19 5p12-11(chr5:44541478-46389339)x3	HCN1, MRPS30	Copy number gain	not provided	GUncertain significance
Select item 814684	GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3	GHR, CARD6 +31 more	Copy number gain	not provided	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 686281	GRCh37/hg19 5p12(chr5:44677459-45399633)x3	HCN1, MRPS30	Copy number gain	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	ABLIM3, ACOT12 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	FAT2, FAXDC2 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 55