LOC130007664[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 146276	GRCh38/hg38 12p11.21-11.1(chr12:32672401-33313056)x3	DNM1L, LOC126861496 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2710061	NC_000012.12:g.32896640_32896911del	LOC130007664, PKP2	Deletion	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 380680	NM_004572.3(PKP2):c.-49C>G	LOC130007664, PKP2	Single nucleotide variant	not specified	GLikely benign
Select item 1290744	NC_000012.12:g.32896781C>A	LOC130007664, PKP2	Single nucleotide variant	not provided	GBenign
Select item 308520	NM_004572.3(PKP2):c.-51C>T	LOC130007664, PKP2	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 882306	NM_004572.3(PKP2):c.-66G>C	LOC130007664, PKP2	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308521	NM_004572.3(PKP2):c.-70C>T	LOC130007664, PKP2	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308522	NM_004572.3(PKP2):c.-79G>T	LOC130007664, PKP2	Single nucleotide variant	Arrhythmogenic right ventricular dysplasia 9	GUncertain significance
Select item 308523	NM_004572.3(PKP2):c.-90G>T	LOC130007664, PKP2	Single nucleotide variant	not provided +1 more	GLikely benign
Select item 308524	NM_004572.3(PKP2):c.-97_-93dup	LOC130007664, PKP2	Duplication	Arrhythmogenic right ventricular cardiomyopathy	GUncertain significance
Select item 308525	NM_004572.3(PKP2):c.-99T>C	LOC130007664, PKP2	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1246000	NC_000012.12:g.32896840del	LOC130007664, PKP2	Deletion	not provided	GBenign
Select item 369015	NM_004572.3(PKP2):c.-116C>T	LOC130007664, PKP2	Single nucleotide variant	Arrhythmogenic right ventricular cardiomyopathy +2 more	GBenign/Likely benign
Select item 1187993	NC_000012.12:g.32896882G>T	LOC130007664, PKP2	Single nucleotide variant	not provided	GLikely benign

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Items: 22