Related gene-specific medical variations for Gene (Select 5318) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3361572	NM_001005242.3(PKP2):c.356A>T (p.Tyr119Phe)	PKP2 (Y10F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256715	NM_004572.3:c.224_1034del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244299	NC_000012.11:g.(?_32978391)_(32996200_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244298	NC_000012.11:g.(?_32978346)_(32996155_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244297	NC_000012.11:g.(?_33031462)_(33032597_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244296	NC_000012.11:g.(?_33031916)_(33033605_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244295	NC_000012.11:g.(?_32954329)_(32955343_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 3244294	NC_000012.11:g.(?_32993942)_(33003927_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244292	NC_000012.11:g.(?_33049423)_(33049665_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3244291	NC_000012.11:g.(?_32945358)_(33049665_?)del	PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3065037	NM_001005242.3(PKP2):c.2446-1G>A	PKP2	Single nucleotide variant (splice acceptor variant)	Arrhythmogenic right ventricular dysplasia 9	GPathogenic
Select item 3061803	NM_001005242.3(PKP2):c.2196del (p.Ile733fs)	PKP2 (I624fs +3 more)	Deletion (frameshift variant +1 more)	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 2689767	NM_001005242.3(PKP2):c.463A>G (p.Ser155Gly)	PKP2 (S155G +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2434913	NM_001005242.3(PKP2):c.2284A>T (p.Ser762Cys)	PKP2 (S653C +3 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2434912	NM_001005242.3(PKP2):c.1195A>C (p.Lys399Gln)	PKP2 (K290Q +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 2432736	NM_001005242.3(PKP2):c.1382del (p.Leu461fs)	PKP2 (L461fs +1 more)	Deletion (frameshift variant)	Arrhythmogenic right ventricular dysplasia 9	GLikely pathogenic
Select item 1808644	GRCh37/hg19 12p11.21(chr12:32936969-33065454)x1	PKP2	Copy number loss	not provided	GLikely pathogenic
Select item 1213690	NM_001005242.3(PKP2):c.669_671dup (p.Gly224dup)	PKP2	Duplication (inframe_insertion)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 1184949	NM_001005242.3(PKP2):c.869G>A (p.Trp290Ter)	PKP2 (W290*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 996775	NM_001005242.3(PKP2):c.968_975del (p.Gln323fs)	PKP2 (Q323fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 993385	NM_001005242.3(PKP2):c.2048A>G (p.Lys683Arg)	PKP2 (K683R +1 more)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 685137	GRCh37/hg19 12p11.21(chr12:33009779-33085304)x3	PKP2	Copy number gain	not provided	GUncertain significance
Select item 59438	GRCh38/hg38 12p11.21(chr12:32813258-32845018)x1	PKP2	Copy number loss	See cases	GUncertain significance

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Links from Gene

Items: 23