ClinVar for Gene (Select 51686) - ClinVar

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

Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3296066	NM_031420.4(MRPL9):c.37C>G (p.Leu13Val)	LOC129931444, MRPL9 +1 more (L13V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3296065	NM_031420.4(MRPL9):c.247G>C (p.Val83Leu)	MRPL9, OAZ3 (V83L)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3296063	NM_031420.4(MRPL9):c.182A>T (p.Lys61Met)	MRPL9, OAZ3 (K61M)	Single nucleotide variant (5 prime UTR 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 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 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 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 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 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 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 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 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 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 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 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	DPM3, ECM1 +228 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +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)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +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
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 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: 24