CYP46A1[gene] - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 146638	GRCh38/hg38 14q32.12-32.33(chr14:92540983-104863658)x3	ZFYVE21, ZNF839 +662 more	Copy number gain	See cases	GPathogenic
Select item 146793	GRCh38/hg38 14q32.13-32.33(chr14:95524407-106879501)x1	SNORD114-11, SNORD114-12 +754 more	Copy number loss	See cases	GPathogenic
Select item 57812	GRCh38/hg38 14q32.2(chr14:96920270-100178956)x1	BCL11B, CCDC85C +81 more	Copy number loss	See cases	GPathogenic
Select item 146074	GRCh38/hg38 14q32.2-32.33(chr14:97638520-106855263)x3	LOC130056455, LOC130056456 +670 more	Copy number gain	See cases	GPathogenic
Select item 57085	GRCh38/hg38 14q32.2-32.33(chr14:97938637-106855263)x1	ADSS1, AHNAK2 +666 more	Copy number loss	See cases	GPathogenic
Select item 146615	GRCh38/hg38 14q32.2-32.33(chr14:99448012-106850609)x3	ADSS1, AHNAK2 +653 more	Copy number gain	See cases	GPathogenic
Select item 2316186	NM_006668.2(CYP46A1):c.229G>T (p.Val77Phe)	CYP46A1 (V77F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693592	NM_006668.2(CYP46A1):c.357-124G>A	CYP46A1	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
Select item 3079641	NM_006668.2(CYP46A1):c.423A>G (p.Ile141Met)	CYP46A1 (I141M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3079642	NM_006668.2(CYP46A1):c.811G>A (p.Val271Ile)	CYP46A1 (V271I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079643	NM_006668.2(CYP46A1):c.959G>A (p.Arg320His)	CYP46A1 (R320H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557616	NM_006668.2(CYP46A1):c.1334T>C (p.Met445Thr)	CYP46A1 (M445T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469011	NM_006668.2(CYP46A1):c.1381C>T (p.Arg461Trp)	CYP46A1 (R461W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079638	NM_006668.2(CYP46A1):c.1399C>T (p.Arg467Cys)	CYP46A1 (R467C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079639	NM_006668.2(CYP46A1):c.1468G>A (p.Gly490Ser)	CYP46A1 (G490S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355180	NM_006668.2(CYP46A1):c.1480G>A (p.Ala494Thr)	CYP46A1 (A494T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2303691	NM_006668.2(CYP46A1):c.1483C>A (p.Pro495Thr)	CYP46A1 (P495T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079640	NM_006668.2(CYP46A1):c.1487C>T (p.Pro496Leu)	CYP46A1 (P496L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063318	GRCh37/hg19 14q32.2-32.32(chr14:97705251-103682578)x3	AMN, ANKRD9 +54 more	Copy number gain	not specified	GUncertain significance
Select item 2684743	GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3	ADSS1, AHNAK2 +182 more	Copy number gain	not provided	GPathogenic
Select item 2684728	GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3	ACOT4, ACOT6 +353 more	Copy number gain	not provided	GPathogenic
Select item 1807775	GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3	ADSS1, AHNAK2 +185 more	Copy number gain	not provided	GPathogenic
Select item 1707441	GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2	ABCD4, ABHD12B +447 more	Copy number gain	See cases	GPathogenic
Select item 1340262	GRCh37/hg19 14q32.13-32.31(chr14:95871795-102457523)x1	AK7, ATG2B +56 more	Copy number loss	not provided	GPathogenic
Select item 929832	GRCh37/hg19 14q32.2-32.33(chr14:96829290-107287663)x1	PPP2R5C, RCOR1 +112 more	Copy number loss	See cases	GPathogenic
Select item 688581	GRCh37/hg19 14q32.2-32.33(chr14:99794230-107285437)x3	ADSS1, AHNAK2 +104 more	Copy number gain	not provided	GPathogenic
Select item 687996	GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3	BTBD6, MIR369 +164 more	Copy number gain	not provided	GPathogenic
Select item 625815	GRCh37/hg19 14q32.2-32.31(chr14:99737888-101847855)	BEGAIN, CCDC85C +35 more	Copy number gain	not provided	GLikely pathogenic
Select item 564133	GRCh37/hg19 14q32.2(chr14:98924025-101159952)x3	WDR25, LINC02914 +14 more	Copy number gain	not provided	GUncertain significance
Select item 443977	GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437)	ABCD4, ABHD12B +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	ACTN1, ACTR10 +635 more	Copy number gain	See cases	GPathogenic

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Items: 38