ClinVar for Gene (Select 346) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308492	NM_001646.3(APOC4):c.10C>T (p.Leu4Phe)	APOC4, APOC4-APOC2 (L4F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3308482	NM_001646.3(APOC4):c.262G>C (p.Asp88His)	APOC4, APOC4-APOC2 (D88H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3308473	NM_001646.3(APOC4):c.137G>A (p.Arg46His)	APOC4, APOC4-APOC2 (R46H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2620582	NM_001646.3(APOC4):c.68G>A (p.Cys23Tyr)	APOC4, APOC4-APOC2 (C23Y)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2514176	NM_001646.3(APOC4):c.307G>A (p.Glu103Lys)	APOC4, APOC4-APOC2 (E103K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 2475002	NM_001646.3(APOC4):c.235C>T (p.Arg79Trp)	APOC4, APOC4-APOC2 (R79W)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323078	NM_001646.3(APOC4):c.353G>C (p.Arg118Thr)	APOC4, APOC4-APOC2 (R118T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2323077	NM_001646.3(APOC4):c.245T>C (p.Met82Thr)	APOC4, APOC4-APOC2 (M82T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2307702	NM_001646.3(APOC4):c.70A>T (p.Ile24Phe)	APOC4, APOC4-APOC2 (I24F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2288259	NM_001646.3(APOC4):c.190A>G (p.Arg64Gly)	APOC4, APOC4-APOC2 (R64G)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2237357	NM_001646.3(APOC4):c.7C>T (p.Leu3Phe)	APOC4, APOC4-APOC2 (L3F)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 1526667	GRCh37/hg19 19q13.31-13.32(chr19:45074342-46133841)	APOC1, APOC2 +36 more	Copy number gain	not specified	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	C5AR1, C5AR2 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ZNF607, ZNF780A +432 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 442437	GRCh37/hg19 19q13.31-13.32(chr19:44300416-45639540)x1	APOC1, APOC2 +39 more	Copy number loss	See cases	GUncertain significance
Select item 253776	GRCh37/hg19 19q13.32(chr19:45284576-45978239)x3	NECTIN2, APOE +24 more	Copy number gain	See cases	GUncertain significance
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	APOC1, APOC2 +120 more	Copy number loss	See cases	GPathogenic