RPSA2[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 151167	GRCh38/hg38 19p12(chr19:23427660-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GUncertain significance
Select item 155572	GRCh38/hg38 19p12(chr19:23438627-23899197)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GUncertain significance
Select item 154475	GRCh38/hg38 19p12(chr19:23441726-24128733)x1	LOC100505851, LOC125371498 +15 more	Copy number loss	See cases	GBenign
Select item 549646	NC_000019.9:g.23624728_24054225del429498	LOC125371498, LOC130064105 +5 more	Deletion	Primary amenorrhea	GLikely benign
Select item 148477	GRCh38/hg38 19p12(chr19:23441926-23878224)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	Gconflicting data from submitters
Select item 146250	GRCh38/hg38 19p12(chr19:23441926-23950272)x3	LOC100505851, LOC125371498 +7 more	Copy number gain	See cases	GLikely benign
Select item 145455	GRCh38/hg38 19p12(chr19:23442005-23860325)x1	LOC125371498, LOC130064105 +5 more	Copy number loss	See cases	GBenign/Likely benign
Select item 153616	GRCh38/hg38 19p12-11(chr19:23540844-24322835)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 152945	GRCh38/hg38 19p12(chr19:23549190-24195691)x3	LINC03085, LOC100505851 +15 more	Copy number gain	See cases	GUncertain significance
Select item 146715	GRCh38/hg38 19p12(chr19:23629461-24183272)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 155499	GRCh38/hg38 19p12-11(chr19:23631687-24324339)x4	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 153277	GRCh38/hg38 19p12-11(chr19:23631687-24322835)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 150152	GRCh38/hg38 19p12(chr19:23665911-24195691)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	Gconflicting data from submitters
Select item 145634	GRCh38/hg38 19p12(chr19:23685651-24193591)x3	LINC03085, LOC100505851 +14 more	Copy number gain	See cases	GUncertain significance
Select item 2649665	NM_001355283.3(RPSA2):c.702C>T (p.Pro234=)	RPSA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2649666	NM_001355283.3(RPSA2):c.774T>A (p.Pro258=)	RPSA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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Items: 20