"GeneDx"[submitter] AND "PKP4"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1290244	NM_003628.6(PKP4):c.-5-301C>T	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230040	NM_003628.6(PKP4):c.66C>T (p.Ala22=)	PKP4	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1296431	NM_003628.6(PKP4):c.133-115A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242097	NM_003628.6(PKP4):c.280+189T>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282918	NM_003628.6(PKP4):c.280+247A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296394	NM_003628.6(PKP4):c.604-187dup	PKP4	Duplication (intron variant)	not provided	GBenign
Select item 1225469	NM_003628.6(PKP4):c.1154-172G>A	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245995	NM_003628.6(PKP4):c.1154-161C>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230384	NM_003628.6(PKP4):c.1343-126C>A	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262823	NM_003628.6(PKP4):c.1562+155T>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273064	NM_003628.6(PKP4):c.1562+231A>T	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177804	NM_003628.6(PKP4):c.1563-39A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226631	NM_003628.6(PKP4):c.1696-148A>G	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296339	NM_003628.6(PKP4):c.1696-58A>T	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1253269	NM_003628.6(PKP4):c.1696-51C>T	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248953	NM_003628.6(PKP4):c.1909+77T>C	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235437	NM_003628.6(PKP4):c.1909+91G>A	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182403	NM_003628.6(PKP4):c.1909+139G>A	PKP4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296432	NM_003628.6(PKP4):c.2079G>A (p.Thr693=)	PKP4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1246915	NM_003628.6(PKP4):c.2094-138T>G	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1222374	NM_003628.6(PKP4):c.2106C>T (p.Ser702=)	PKP4, PKP4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 1296387	NM_003628.6(PKP4):c.2212-41G>A	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238849	NM_003628.6(PKP4):c.2577+128G>C	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1224158	NM_003628.6(PKP4):c.2578-46C>G	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262295	NM_003628.6(PKP4):c.2729-302C>T	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291941	NM_003628.6(PKP4):c.2729-272A>G	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257790	NM_003628.6(PKP4):c.2729-44C>G	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242794	NM_003628.6(PKP4):c.2924+34C>T	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239574	NM_003628.6(PKP4):c.2925-301T>A	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250627	NM_003628.6(PKP4):c.3127+139A>T	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258114	NM_003628.6(PKP4):c.3128-234G>A	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245373	NM_003628.6(PKP4):c.3257-230A>G	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226488	NM_003628.6(PKP4):c.3257-219C>T	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296340	NM_003628.6(PKP4):c.3257-204C>T	PKP4, PKP4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253710	GRCh37/hg19 2q24.1-24.2(chr2:159479568-160033905)x3	PKP4, TANC1 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253638	GRCh37/hg19 2q24.1-31.3(chr2:156489430-182921298)x3	ABCB11, ACVR1 +129 more	Copy number gain	See cases	GPathogenic

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Items: 36