ClinVar for Gene (Select 54460) - ClinVar

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Links from Gene

Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3208989	NM_031901.6(MRPS21):c.182G>A (p.Arg61Gln)	MRPS21 (R61Q)	Single nucleotide variant (missense variant)	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 3062368	GRCh37/hg19 1q21.2-21.3(chr1:149713775-150385573)x1	ANP32E, APH1A +25 more	Copy number loss	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 2556384	NM_031901.6(MRPS21):c.209G>A (p.Arg70His)	MRPS21 (R70H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508383	NM_031901.6(MRPS21):c.181C>T (p.Arg61Trp)	MRPS21 (R61W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425201	NC_000001.10:g.(?_150039915)_(150464158_?)dup	ANP32E, APH1A +9 more	Duplication	not provided	GUncertain significance
Select item 2257589	NM_031901.6(MRPS21):c.170A>G (p.Tyr57Cys)	MRPS21 (Y57C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219034	NM_031901.6(MRPS21):c.61A>G (p.Ser21Gly)	MRPS21 (S21G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	ARHGEF2, ARNT +228 more	Duplication	MHC class II deficiency +3 more	GUncertain significance
Select item 1411622	NC_000001.10:g.(?_150044213)_(150477474_?)dup	MRPS21, PLEKHO1 +9 more	Duplication	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	KLHL12, LNCATV +956 more	Duplication	Paragangliomas 3 +2 more	GUncertain significance
Select item 685547	GRCh37/hg19 1q21.2-21.3(chr1:150270870-150527943)x3	ADAMTSL4, ECM1 +5 more	Copy number gain	not provided	GUncertain significance
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 393719	GRCh37/hg19 1q21.1-21.3(chr1:143753740-151399970)x3	FMO5, GABPB2 +103 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	LOC132088675, LOC132088682 +1585 more	Copy number gain	See cases	GPathogenic
Select item 149773	GRCh38/hg38 1q21.2(chr1:150214843-150565007)x3	ADAMTSL4, ADAMTSL4-AS1 +37 more	Copy number gain	See cases	GLikely benign
Select item 57468	GRCh38/hg38 1q21.2(chr1:150034379-150414215)x1	ANP32E, APH1A +35 more	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 21