ClinVar for Gene (Select 64430) - ClinVar

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Links from Gene

Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3210398	NM_001330177.2(PCNX4):c.1982A>G (p.Gln661Arg)	PCNX4 (Q427R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685487	GRCh37/hg19 14q22.3-23.2(chr14:55667390-64447598)x1	HIF1A, HIF1A-AS2 +47 more	Copy number loss	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	CCNK, MIR376A1 +353 more	Copy number gain	not provided	GPathogenic
Select item 2684726	GRCh37/hg19 14q22.3-24.1(chr14:57588965-68334517)x3	ACTR10, AKAP5 +71 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
Select item 2644266	NM_001330177.2(PCNX4):c.3217A>G (p.Ile1073Val)	PCNX4 (I1073V +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2644265	NM_001330177.2(PCNX4):c.1359A>G (p.Val453=)	PCNX4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364743	NM_001330177.2(PCNX4):c.2728G>A (p.Val910Ile)	PCNX4 (V676I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252440	NM_001330177.2(PCNX4):c.1766C>G (p.Pro589Arg)	PCNX4 (P355R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239947	NM_001330177.2(PCNX4):c.1030C>T (p.Pro344Ser)	PCNX4 (P110S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238378	NM_001330177.2(PCNX4):c.3134T>A (p.Phe1045Tyr)	PCNX4 (F1045Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235529	NM_001330177.2(PCNX4):c.1195C>A (p.Leu399Ile)	PCNX4 (L165I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229183	NM_001330177.2(PCNX4):c.2256C>G (p.Asn752Lys)	PCNX4 (N752K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217154	NM_001330177.2(PCNX4):c.1639G>A (p.Val547Met)	PCNX4 (V313M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1807640	GRCh37/hg19 14q22.3-23.2(chr14:57804997-63590203)x1	ACTR10, ARID4A +32 more	Copy number loss	not provided	GLikely pathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	AREL1, ARF6 +447 more	Copy number gain	See cases	GPathogenic
Select item 1162192	GRCh37/hg19 14q22.2-24.3(chr14:54654001-75828024)x3	ISCA2, TMEM30B +158 more	Copy number gain	14q22.2q24.3 duplication	GLikely pathogenic
Select item 980493	GRCh37/hg19 14q23.1(chr14:60574538-60635500)x1	DHRS7, PCNX4	Copy number loss	not provided	GLikely benign
Select item 815665	GRCh37/hg19 14q23.1(chr14:60327446-60622477)x3	DHRS7, RTN1 +1 more	Copy number gain	not provided	GLikely benign
Select item 564129	GRCh37/hg19 14q23.1(chr14:60011801-61106182)x3	CCDC175, PCNX4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 564096	GRCh37/hg19 14q23.1(chr14:60519819-60644989)x3	DHRS7, PCNX4	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 395470	GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3	ABCD4, ABHD12B +635 more	Copy number gain	See cases	GPathogenic
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126862060, LOC126862061 +3282 more	Copy number gain	See cases	GPathogenic
Select item 149300	GRCh38/hg38 14q23.1-23.2(chr14:57653413-64093528)x1	ACTR10, ARID4A +202 more	Copy number loss	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	LOC125048449, LOC125048450 +3277 more	Copy number gain	See cases	GPathogenic
Select item 57782	GRCh38/hg38 14q23.1(chr14:58146022-61273619)x1	ACTR10, ARID4A +113 more	Copy number loss	See cases	GPathogenic
Select item 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	LOC132090233, LOC132090234 +264 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 29