MRPS14[gene] - ClinVar

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Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	ADCY10, ALDH9A1 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	LOC126805925, LOC126805926 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	LOC122149328, LOC122149329 +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	IER5, IVNS1ABP +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ACBD6, ANGPTL1 +513 more	Copy number gain	See cases	GPathogenic
Select item 1321886	NC_000001.11:g.173501975_175305010del	ANKRD45, CACYBP +79 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 1321890	NC_000001.11:g.173686375_176083118del	ANKRD45, CACYBP +88 more	Deletion	Hereditary antithrombin deficiency	GPathogenic
Select item 2151291	NM_022100.3(MRPS14):c.378G>A (p.Ala126=)	MRPS14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1176521	NM_022100.3(MRPS14):c.351T>C (p.His117=)	MRPS14	Single nucleotide variant (synonymous variant +1 more)	MRPS14-related condition +1 more	GBenign/Likely benign
Select item 2985192	NM_022100.3(MRPS14):c.335G>A (p.Arg112His)	MRPS14 (R112H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2719266	NM_022100.3(MRPS14):c.331T>C (p.Phe111Leu)	MRPS14 (F111L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2152554	NM_022100.3(MRPS14):c.330C>A (p.Val110=)	MRPS14	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 625168	NM_022100.3(MRPS14):c.322C>T (p.Arg108Cys)	MRPS14 (R108C)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2357339	NM_022100.3(MRPS14):c.308G>A (p.Arg103His)	MRPS14 (R103H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1988679	NM_022100.3(MRPS14):c.297T>C (p.Gly99=)	MRPS14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2892030	NM_022100.3(MRPS14):c.293G>A (p.Arg98His)	MRPS14 (R98H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2540088	NM_022100.3(MRPS14):c.292C>T (p.Arg98Cys)	MRPS14 (R98C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1549714	NM_022100.3(MRPS14):c.282G>A (p.Thr94=)	MRPS14	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 2180684	NM_022100.3(MRPS14):c.278T>C (p.Met93Thr)	MRPS14 (M93T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2187478	NM_022100.3(MRPS14):c.239G>T (p.Arg80Leu)	MRPS14 (R80L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2619097	NM_022100.3(MRPS14):c.185T>C (p.Ile62Thr)	MRPS14 (I62T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233697	NM_022100.3(MRPS14):c.178A>G (p.Asn60Asp)	MRPS14 (N60D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1929141	NM_022100.3(MRPS14):c.158G>A (p.Arg53His)	MRPS14 (R53H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1445063	NM_022100.3(MRPS14):c.145G>A (p.Asp49Asn)	MRPS14 (D49N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2872248	NM_022100.3(MRPS14):c.116A>G (p.Lys39Arg)	MRPS14 (K39R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2969483	NM_022100.3(MRPS14):c.111T>C (p.Asp37=)	MRPS14	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2044051	NM_022100.3(MRPS14):c.108C>T (p.Arg36=)	MRPS14	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1913283	NM_022100.3(MRPS14):c.106C>T (p.Arg36Cys)	MRPS14 (R36C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2239537	NM_022100.3(MRPS14):c.86A>G (p.Tyr29Cys)	MRPS14 (Y29C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2995750	NM_022100.3(MRPS14):c.77G>A (p.Arg26Gln)	MRPS14 (R26Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2755344	NM_022100.3(MRPS14):c.49G>T (p.Val17Phe)	MRPS14 (V17F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2956079	NM_022100.3(MRPS14):c.46-16T>C	MRPS14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2017535	NM_022100.3(MRPS14):c.45+4A>G	LOC129931958, MRPS14	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3049231	NM_022100.3(MRPS14):c.39C>T (p.Phe13=)	LOC129931958, MRPS14	Single nucleotide variant (synonymous variant +1 more)	MRPS14-related condition	GLikely benign
Select item 2790358	NM_022100.3(MRPS14):c.25C>T (p.Leu9=)	LOC129931958, MRPS14	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2300325	NM_022100.3(MRPS14):c.20G>T (p.Gly7Val)	LOC129931958, MRPS14 (G7V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2191900	NM_022100.3(MRPS14):c.13A>G (p.Met5Val)	LOC129931958, MRPS14 (M5V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 3062833	GRCh37/hg19 1q25.1-25.2(chr1:174833865-176232490)x1	CACYBP, COP1 +5 more	Copy number loss	not specified	GUncertain significance
Select item 3062777	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 979311	GRCh37/hg19 1q25.1-25.3(chr1:173162501-182702252)x3	ABL2, ACBD6 +52 more	Copy number gain	not provided	GPathogenic
Select item 979310	GRCh37/hg19 1q25.1-25.2(chr1:174410914-178743636)x1	CACYBP, TEX35 +13 more	Copy number loss	not provided	GUncertain significance
Select item 814142	GRCh37/hg19 1q25.1-25.2(chr1:174974791-177024710)x1	MRPS14, KIAA0040 +6 more	Copy number loss	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 599187	NC_000001.10:g.172652343_183538289del10885947	ANKRD45, ASTN1 +61 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 443359	GRCh37/hg19 1q25.1-25.3(chr1:173138799-185129406)x3	ABL2, ACBD6 +71 more	Copy number gain	See cases	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	ABL2, ACBD6 +147 more	Copy number loss	See cases	GPathogenic
Select item 253471	GRCh37/hg19 1q24.3-25.3(chr1:172742952-181814496)x1	ABL2, ACBD6 +46 more	Copy number loss	See cases	GPathogenic

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Items: 62