MRPS9[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 57183	GRCh38/hg38 2q11.2-12.3(chr2:100378510-108472871)x3	C2orf49, C2orf49-DT +205 more	Copy number gain	See cases	GPathogenic
Select item 152946	GRCh38/hg38 2q11.2-12.2(chr2:100478285-106498909)x3	C2orf49, C2orf49-DT +176 more	Copy number gain	See cases	GUncertain significance
Select item 154902	GRCh38/hg38 2q11.2-12.2(chr2:101234070-105679157)x1	C2orf49, C2orf49-DT +111 more	Copy number loss	See cases	GPathogenic
Select item 149662	GRCh38/hg38 2q11.2-13(chr2:101710825-110791418)x3	ACOXL, BUB1 +241 more	Copy number gain	See cases	GPathogenic
Select item 145646	GRCh38/hg38 2q11.2-12.2(chr2:102084275-106085903)x1	TMEM182, C2orf49 +113 more	Copy number loss	See cases	GLikely pathogenic
Select item 145956	GRCh38/hg38 2q12.1-12.3(chr2:104381722-107312459)x1	C2orf49, C2orf49-DT +90 more	Copy number loss	See cases	GLikely pathogenic
Select item 154722	GRCh38/hg38 2q12.1(chr2:104646642-105064104)x1	LINC01114, LINC01159 +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 151418	GRCh38/hg38 2q12.1-12.2(chr2:104871270-105354003)x1	C2orf49, C2orf49-DT +21 more	Copy number loss	See cases	GUncertain significance
Select item 2475357	NM_182640.3(MRPS9):c.25G>A (p.Gly9Ser)	MRPS9, MRPS9-AS2 (G9S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236040	NM_182640.3(MRPS9):c.32C>T (p.Ala11Val)	MRPS9, MRPS9-AS2 (A11V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209771	NM_182640.3(MRPS9):c.116A>C (p.Gln39Pro)	MRPS9, MRPS9-AS2 (Q39P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209773	NM_182640.3(MRPS9):c.201A>C (p.Glu67Asp)	MRPS9 (E67D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213591	NM_182640.3(MRPS9):c.245A>G (p.Asn82Ser)	MRPS9 (N82S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528635	NM_182640.3(MRPS9):c.248T>C (p.Ile83Thr)	MRPS9 (I83T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496340	NM_182640.3(MRPS9):c.269A>G (p.Asn90Ser)	MRPS9 (N90S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593379	NM_182640.3(MRPS9):c.382C>G (p.Pro128Ala)	MRPS9 (P128A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396860	NM_182640.3(MRPS9):c.445T>G (p.Tyr149Asp)	MRPS9 (Y149D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594419	NM_182640.3(MRPS9):c.446A>G (p.Tyr149Cys)	MRPS9 (Y149C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209799	NM_182640.3(MRPS9):c.491A>C (p.Asp164Ala)	MRPS9 (D164A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651224	NM_182640.3(MRPS9):c.553C>T (p.Leu185Phe)	MRPS9 (L185F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3209804	NM_182640.3(MRPS9):c.580G>A (p.Val194Met)	MRPS9 (V194M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549242	NM_182640.3(MRPS9):c.629T>G (p.Val210Gly)	MRPS9 (V210G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651225	NM_182640.3(MRPS9):c.711G>A (p.Glu237=)	MRPS9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2274038	NM_182640.3(MRPS9):c.721G>T (p.Val241Leu)	MRPS9 (V241L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373710	NM_182640.3(MRPS9):c.729G>C (p.Arg243Ser)	MRPS9 (R243S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2651226	NM_182640.3(MRPS9):c.734G>A (p.Arg245Gln)	MRPS9 (R245Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2333275	NM_182640.3(MRPS9):c.758A>T (p.Lys253Ile)	MRPS9 (K253I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296136	NM_182640.3(MRPS9):c.826A>G (p.Arg276Gly)	MRPS9 (R276G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3209818	NM_182640.3(MRPS9):c.842C>T (p.Ala281Val)	MRPS9 (A281V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296140	NM_182640.3(MRPS9):c.863A>G (p.His288Arg)	MRPS9 (H288R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2467121	NM_182640.3(MRPS9):c.895G>A (p.Asp299Asn)	MRPS9 (D299N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3296139	NM_182640.3(MRPS9):c.920C>G (p.Thr307Arg)	MRPS9 (T307R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380458	NM_182640.3(MRPS9):c.982G>A (p.Val328Met)	MRPS9, MRPS9-AS1 (V328M)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296138	NM_182640.3(MRPS9):c.1072G>A (p.Glu358Lys)	MRPS9, MRPS9-AS1 (E358K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2396963	NM_182640.3(MRPS9):c.1078G>A (p.Glu360Lys)	MRPS9, MRPS9-AS1 (E360K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3296137	NM_182640.3(MRPS9):c.1084G>A (p.Glu362Lys)	MRPS9, MRPS9-AS1 (E362K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3209763	NM_182640.3(MRPS9):c.1088G>T (p.Trp363Leu)	MRPS9, MRPS9-AS1 (W363L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3209768	NM_182640.3(MRPS9):c.1123C>T (p.Arg375Cys)	MRPS9, MRPS9-AS1 (R375C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530406	NM_182640.3(MRPS9):c.1175C>T (p.Thr392Met)	MRPS9, MRPS9-AS1 (T392M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062631	GRCh37/hg19 2q12.1-12.2(chr2:105674582-106762678)x1	C2orf49, ECRG4 +6 more	Copy number loss	not specified	GUncertain significance
Select item 2684631	GRCh37/hg19 2q11.2-12.2(chr2:101933587-106547126)x1	C2orf49, CREG2 +18 more	Copy number loss	not provided	GUncertain significance
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1340175	GRCh37/hg19 2q11.2-12.2(chr2:101699537-106383710)x1	C2orf49, CNOT11 +21 more	Copy number loss	not provided	GUncertain significance
Select item 688268	GRCh37/hg19 2q12.1-12.2(chr2:102917327-106755564)x1	C2orf49, ECRG4 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687770	GRCh37/hg19 2q12.1-12.2(chr2:104816400-106617614)x3	C2orf49, FHL2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 562651	GRCh37/hg19 2q12.1-12.2(chr2:104327052-106123901)x3	GPR45, TGFBRAP1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 562648	GRCh37/hg19 2q12.1-12.2(chr2:104995799-106679055)x1	TGFBRAP1, NCK2 +5 more	Copy number loss	not provided	GLikely pathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 523163	GRCh37/hg19 2q12.1-24.3(chr2:104172062-168223828)x1	CCDC74B, CCDC93 +218 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 443263	GRCh37/hg19 2q12.1(chr2:105239993-105899739)x3	GPR45, MRPS9 +2 more	Copy number gain	See cases	GLikely benign
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic

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Items: 58