ClinVar for Gene (Select 641372) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262036	NM_001365788.1(ACOT6):c.1159G>A (p.Glu387Lys)	ACOT6, HEATR4 (E173K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262026	NM_001365788.1(ACOT6):c.829G>A (p.Asp277Asn)	ACOT6, HEATR4 (D63N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137925	NM_001365788.1(ACOT6):c.722T>A (p.Met241Lys)	ACOT6, HEATR4 (M241K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3137862	NM_001365788.1(ACOT6):c.662T>A (p.Val221Glu)	ACOT6, HEATR4 (V221E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2552965	NM_001365788.1(ACOT6):c.1171C>A (p.His391Asn)	ACOT6, HEATR4 (H177N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481527	NM_001365788.1(ACOT6):c.1086T>G (p.Ile362Met)	ACOT6, HEATR4 (I148M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457954	NM_001365788.1(ACOT6):c.863G>T (p.Gly288Val)	ACOT6, HEATR4 (G288V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370300	NM_001365788.1(ACOT6):c.704G>T (p.Gly235Val)	ACOT6, HEATR4 (G21V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336291	NM_001365788.1(ACOT6):c.1126G>A (p.Ala376Thr)	ACOT6, HEATR4 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285167	NM_001365788.1(ACOT6):c.673A>G (p.Ser225Gly)	ACOT6, HEATR4 (S225G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261317	NM_001365788.1(ACOT6):c.1199A>G (p.Gln400Arg)	ACOT6, HEATR4 (Q186R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218973	NM_001365788.1(ACOT6):c.1168G>C (p.Ala390Pro)	ACOT6, HEATR4 (A390P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 625564	GRCh37/hg19 14q24.3(chr14:74040231-76368547)	ABCD4, ACOT2 +38 more	Copy number loss	not provided	GLikely pathogenic
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	GTF2A1, GZMB +624 more	Copy number gain	See cases	GPathogenic
Select item 442718	GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3	ABCD4, ACOT1 +261 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 208506	GRCh37/hg19 14q24.2-q24.3(chr14:73152115..77698582)	ACOT6, ACYP1 +59 more	Deletion	Multiple skeletal anomalies +3 more	GLikely pathogenic
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 155198	GRCh38/hg38 14q24.3-31.1(chr14:73343213-78835059)x1	ABCD4, ACOT1 +299 more	Copy number loss	See cases	GLikely pathogenic
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 144734	GRCh38/hg38 14q24.1-31.1(chr14:69562099-81975384)x1	SAMD15, SEL1L +503 more	Copy number loss	See cases	GPathogenic

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Links from Gene

Items: 24