CYP3A7[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	UFSP1, VGF +299 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +229 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +309 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +124 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	CNPY4, COPS6 +227 more	Copy number loss	See cases	GPathogenic
Select item 151564	GRCh38/hg38 7q22.1(chr7:99643456-99913142)x3	CYP3A4, CYP3A43 +11 more	Copy number gain	See cases	GLikely benign
Select item 2248729	NM_000765.5(CYP3A7):c.1364C>A (p.Ala455Asp)	ZSCAN25, CYP3A7-CYP3A51P +1 more (A455D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2275626	NM_000765.5(CYP3A7):c.1325G>T (p.Cys442Phe)	CYP3A7, CYP3A7-CYP3A51P +1 more (C442F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335067	NM_000765.5(CYP3A7):c.1313G>A (p.Gly438Glu)	ZSCAN25, CYP3A7-CYP3A51P +1 more (G438E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372183	NM_000765.5(CYP3A7):c.1278C>G (p.Asn426Lys)	CYP3A7, ZSCAN25 +1 more (N426K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2517010	NM_000765.5(CYP3A7):c.1154G>A (p.Gly385Glu)	CYP3A7, CYP3A7-CYP3A51P +1 more (G385E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210699	NM_000765.5(CYP3A7):c.1113G>A (p.Met371Ile)	CYP3A7-CYP3A51P, ZSCAN25 +1 more (M371I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479963	NM_000765.5(CYP3A7):c.1074G>A (p.Met358Ile)	ZSCAN25, CYP3A7 +1 more (M358I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2372750	NM_000765.5(CYP3A7):c.1057T>A (p.Leu353Met)	CYP3A7, CYP3A7-CYP3A51P +1 more (L353M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2316890	NM_000765.5(CYP3A7):c.944C>T (p.Ser315Phe)	CYP3A7, ZSCAN25 +1 more (S315F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528723	NM_000765.5(CYP3A7):c.931A>G (p.Ser311Gly)	CYP3A7, CYP3A7-CYP3A51P +1 more (S311G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2365745	NM_000765.5(CYP3A7):c.869T>G (p.Leu290Arg)	CYP3A7, CYP3A7-CYP3A51P +1 more (L290R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2402955	NM_000765.5(CYP3A7):c.857C>A (p.Thr286Asn)	CYP3A7-CYP3A51P, CYP3A7 +1 more (T286N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2208332	NM_000765.5(CYP3A7):c.779G>A (p.Arg260His)	CYP3A7-CYP3A51P, CYP3A7 +1 more (R260H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374975	NM_000765.5(CYP3A7):c.736A>G (p.Ile246Val)	ZSCAN25, CYP3A7-CYP3A51P +1 more (I246V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2334411	NM_000765.5(CYP3A7):c.697C>T (p.Leu233Phe)	CYP3A7, CYP3A7-CYP3A51P +1 more (L233F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2401268	NM_000765.5(CYP3A7):c.658G>A (p.Val220Ile)	CYP3A7-CYP3A51P, ZSCAN25 +1 more (V220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2374974	NM_000765.5(CYP3A7):c.607T>C (p.Phe203Leu)	ZSCAN25, CYP3A7-CYP3A51P +1 more (F203L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383490	NM_000765.5(CYP3A7):c.575G>A (p.Ser192Asn)	ZSCAN25, CYP3A7 +1 more (S192N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2464645	NM_000765.5(CYP3A7):c.484C>T (p.Arg162Trp)	CYP3A7, ZSCAN25 +1 more (R162W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 761437	NM_000765.5(CYP3A7):c.426C>T (p.Leu142=)	CYP3A7, CYP3A7-CYP3A51P +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2266441	NM_000765.5(CYP3A7):c.334G>A (p.Gly112Arg)	ZSCAN25, CYP3A7-CYP3A51P +1 more (G112R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 782111	NM_000765.5(CYP3A7):c.212T>C (p.Val71Ala)	CYP3A7, CYP3A7-CYP3A51P +1 more (V71A)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2358100	NM_000765.5(CYP3A7):c.94C>G (p.Leu32Val)	CYP3A7-CYP3A51P, CYP3A7 +1 more (L32V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2353188	NM_000765.5(CYP3A7):c.35G>T (p.Trp12Leu)	CYP3A7-CYP3A51P, CYP3A7 +1 more (W12L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062972	GRCh37/hg19 7q22.1(chr7:98396469-102108193)x1	ACHE, ACTL6B +93 more	Copy number loss	not specified	GLikely pathogenic
Select item 2685256	GRCh37/hg19 7q22.1(chr7:99263437-100105272)x1	ZNF3, ZSCAN21 +32 more	Copy number loss	not provided	GUncertain significance
Select item 2685254	GRCh37/hg19 7q22.1(chr7:99114000-101878272)x1	CYP3A4, CYP3A43 +73 more	Copy number loss	not provided	GPathogenic
Select item 2424700	NC_000007.13:g.(?_98507659)_(100860555_?)dup	TRAPPC14, TRIM4 +79 more	Duplication	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1373858	NC_000007.13:g.(?_98983338)_(100860555_?)del	ACHE, ACTL6B +75 more	Deletion	not provided	GPathogenic
Select item 1340058	GRCh37/hg19 7q22.1(chr7:98755291-99886571)x3	AP4M1, ARPC1A +39 more	Copy number gain	not provided	GUncertain significance
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687317	GRCh37/hg19 7q22.1(chr7:98758955-99368262)x1	ARPC1A, ARPC1B +16 more	Copy number loss	not provided	GUncertain significance
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563415	GRCh37/hg19 7q22.1(chr7:98847725-102472176)x1	CYP3A43, GJC3 +99 more	Copy number loss	not provided	GPathogenic
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	ARPC1A, ARPC1B +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 50