CYP39A1[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	CYP39A1, DAAM2 +2577 more	Copy number gain	See cases	GPathogenic
Select item 146275	GRCh38/hg38 6p21.1-12.3(chr6:44985760-47986838)x3	ADGRF1, ADGRF2 +78 more	Copy number gain	See cases	GLikely pathogenic
Select item 149301	GRCh38/hg38 6p21.1-12.1(chr6:45681671-54212044)x1	ADGRF1, ADGRF2 +228 more	Copy number loss	See cases	GPathogenic
Select item 2317964	NM_016593.5(CYP39A1):c.1358G>A (p.Gly453Asp)	CYP39A1 (G281D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307664	NM_016593.5(CYP39A1):c.928G>A (p.Ala310Thr)	CYP39A1 (A310T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2381155	NM_016593.5(CYP39A1):c.920T>C (p.Phe307Ser)	CYP39A1 (F135S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234536	NM_016593.5(CYP39A1):c.916G>C (p.Val306Leu)	CYP39A1 (V306L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526314	NM_016593.5(CYP39A1):c.875A>T (p.His292Leu)	CYP39A1 (H272L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287963	NM_016593.5(CYP39A1):c.793A>G (p.Asn265Asp)	CYP39A1 (N93D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656619	NM_016593.5(CYP39A1):c.713C>G (p.Ser238Cys)	CYP39A1 (S218C +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2204554	NM_016593.5(CYP39A1):c.628T>A (p.Cys210Ser)	CYP39A1 (C190S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2615622	NM_016593.5(CYP39A1):c.541T>C (p.Ser181Pro)	CYP39A1 (S161P +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2218721	NM_016593.5(CYP39A1):c.523T>G (p.Phe175Val)	CYP39A1 (F175V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252410	NM_016593.5(CYP39A1):c.517A>G (p.Met173Val)	CYP39A1 (M153V +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2374741	NM_016593.5(CYP39A1):c.328A>G (p.Asn110Asp)	CYP39A1 (N110D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2482165	NM_016593.5(CYP39A1):c.129T>G (p.Phe43Leu)	CYP39A1 (F43L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2656620	NM_016593.5(CYP39A1):c.80G>A (p.Arg27His)	CYP39A1 (R27H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1808339	GRCh37/hg19 6p12.3(chr6:46515239-46599862)x1	CYP39A1	Copy number loss	not provided	GUncertain significance
Select item 1676306	GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3	PAQR8, PGK2 +92 more	Copy number gain	not provided	GLikely pathogenic
Select item 1527236	GRCh37/hg19 6p21.1-12.3(chr6:43636308-50947320)	ADGRF5, ANKRD66 +50 more	Copy number loss	not specified	GPathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	LRRC1, LRRC73 +427 more	Copy number gain	not provided	GPathogenic
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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Items: 23