MRPL9[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 2589750	NM_031420.4(MRPL9):c.793C>T (p.Pro265Ser)	MRPL9 (P265S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3208513	NM_031420.4(MRPL9):c.712G>A (p.Val238Met)	MRPL9 (V238M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509316	NM_031420.4(MRPL9):c.712G>T (p.Val238Leu)	MRPL9 (V238L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3208509	NM_031420.4(MRPL9):c.691G>C (p.Val231Leu)	MRPL9 (V197L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255131	NM_031420.4(MRPL9):c.673G>C (p.Val225Leu)	MRPL9 (V225L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2255032	NM_031420.4(MRPL9):c.604G>A (p.Ala202Thr)	MRPL9 (A168T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639181	NM_031420.4(MRPL9):c.597T>G (p.Val199=)	MRPL9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 403108	NM_031420.4(MRPL9):c.589-27_589-26dup	MRPL9	Duplication (intron variant)	not specified	GBenign
Select item 3208500	NM_031420.4(MRPL9):c.579C>A (p.Phe193Leu)	MRPL9 (F193L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2543985	NM_031420.4(MRPL9):c.571C>T (p.Arg191Cys)	MRPL9 (R191C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467276	NM_031420.4(MRPL9):c.470C>T (p.Thr157Ile)	MRPL9 (T157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 772687	NM_031420.4(MRPL9):c.311-9A>G	MRPL9	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2456551	NM_031420.4(MRPL9):c.271A>G (p.Lys91Glu)	MRPL9, OAZ3 (K91E)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2372752	NM_031420.4(MRPL9):c.265C>T (p.Arg89Trp)	MRPL9, OAZ3 (R89W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2589848	NM_031420.4(MRPL9):c.261G>C (p.Lys87Asn)	MRPL9, OAZ3 (K87N)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2254441	NM_031420.4(MRPL9):c.233G>C (p.Arg78Pro)	MRPL9, OAZ3 (R78P)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2465337	NM_031420.4(MRPL9):c.223C>T (p.Arg75Trp)	MRPL9, OAZ3 (R75W)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3208473	NM_031420.4(MRPL9):c.214C>T (p.Arg72Cys)	MRPL9, OAZ3 (R72C)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2292080	NM_031420.4(MRPL9):c.139C>T (p.Leu47Phe)	LOC129931444, MRPL9 +1 more (L47F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2510929	NM_031420.4(MRPL9):c.137G>A (p.Ser46Asn)	LOC129931444, MRPL9 +1 more (S46N)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208515	NM_031420.4(MRPL9):c.77T>G (p.Val26Gly)	LOC129931444, MRPL9 +1 more (V26G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2519631	NM_031420.4(MRPL9):c.68G>A (p.Arg23Gln)	LOC129931444, MRPL9 +1 more (R23Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3208467	NM_031420.4(MRPL9):c.20C>G (p.Thr7Arg)	LOC129931444, MRPL9 +1 more (T7R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	CDC42SE1, KPRP +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 565180	GRCh37/hg19 1q21.3(chr1:150853044-154647786)x3	LCE2A, S100A2 +125 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 225520	GRCh37/hg19 1q21.1-21.3(chr1:144927578-153223600)x3	CIART, LCE2A +154 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic

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Items: 33