Related gene-specific medical variations for Gene (Select 129563) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247218	NC_000002.11:g.(?_233194596)_(233197054_?)del	DIS3L2	Deletion	Perlman syndrome	GLikely pathogenic
Select item 3247217	NC_000002.11:g.(?_232948617)_(232952332_?)del	DIS3L2	Deletion	Perlman syndrome	GLikely pathogenic
Select item 3247216	NC_000002.11:g.(?_233194503)_(233201340_?)dup	DIS3L2	Duplication	Perlman syndrome	GUncertain significance
Select item 3247214	NC_000002.11:g.(?_233075026)_(233201340_?)dup	DIS3L2	Duplication	Perlman syndrome	GUncertain significance
Select item 3247213	NC_000002.11:g.(?_233075026)_(233195496_?)dup	DIS3L2	Duplication	Perlman syndrome	GLikely pathogenic
Select item 3247212	NC_000002.11:g.(?_233075026)_(233128160_?)dup	DIS3L2	Duplication	Perlman syndrome	GLikely pathogenic
Select item 3247211	NC_000002.11:g.(?_232952177)_(233075135_?)del	DIS3L2	Deletion	Perlman syndrome	GPathogenic
Select item 3247210	NC_000002.11:g.(?_233200473)_(233201340_?)del	DIS3L2	Deletion	Perlman syndrome	GUncertain significance
Select item 3247209	NC_000002.11:g.(?_233028149)_(233028362_?)del	DIS3L2	Deletion	Perlman syndrome	GPathogenic
Select item 3241337	NM_152383.5(DIS3L2):c.1702C>T (p.Gln568Ter)	DIS3L2 (Q568*)	Single nucleotide variant (nonsense +2 more)	Perlman syndrome	GLikely pathogenic
Select item 3241336	NM_152383.5(DIS3L2):c.1566_1569del (p.Ser522fs)	DIS3L2 (S522fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 3241335	NM_152383.5(DIS3L2):c.113_116del (p.Lys38fs)	DIS3L2 (K38fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2674845	NM_152383.5(DIS3L2):c.1178_1179insAAGCCACT (p.Leu394fs)	DIS3L2 (L394fs)	Insertion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2674844	NM_152383.5(DIS3L2):c.426del (p.Glu143fs)	DIS3L2 (E143fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2674843	NM_152383.5(DIS3L2):c.457C>T (p.Gln153Ter)	DIS3L2 (Q153*)	Single nucleotide variant (nonsense +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2674841	NM_152383.5(DIS3L2):c.502del (p.Ala168fs)	DIS3L2 (A168fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2674840	NM_152383.5(DIS3L2):c.943del (p.Ala315fs)	DIS3L2 (A315fs)	Deletion (frameshift variant +1 more)	Perlman syndrome	GLikely pathogenic
Select item 2674839	NM_152383.5(DIS3L2):c.994G>T (p.Glu332Ter)	DIS3L2 (E332*)	Single nucleotide variant (nonsense +1 more)	Perlman syndrome	GLikely pathogenic
Select item 1319058	NM_152383.5(DIS3L2):c.1858G>A (p.Asp620Asn)	DIS3L2 (D620N)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1319054	NM_152383.5(DIS3L2):c.2263A>G (p.Ser755Gly)	DIS3L2 (S755G)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 685856	GRCh37/hg19 2q37.1(chr2:232873876-232947601)x1	DIS3L2	Copy number loss	not provided	GPathogenic
Select item 591666	NM_001257281.2(DIS3L2):c.1625dup (p.His542fs)	DIS3L2 (H542fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 591074	NM_152383.5(DIS3L2):c.2496+1G>T	DIS3L2	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GUncertain significance
Select item 31123	NG_032572.1:g.89357_172136del	DIS3L2	Deletion	Perlman syndrome	GPathogenic

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Links from Gene

Items: 24