1576[Gene ID] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC123956257, LOC123956258 +2213 more	Copy number gain	See cases	GPathogenic
Select item 59713	GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3	ACHE, ACTL6B +300 more	Copy number gain	See cases	GPathogenic
Select item 2579262	GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1	ACTL6B, AGFG2 +230 more	Copy number loss	Multiple congenital anomalies/dysmorphic syndrome	GPathogenic
Select item 146501	GRCh38/hg38 7q22.1(chr7:99195836-102258175)x1	ACHE, ACTL6B +310 more	Copy number loss	See cases	GPathogenic
Select item 146325	GRCh38/hg38 7q22.1(chr7:99195836-100348063)x3	AP4M1, ARPC1A +125 more	Copy number gain	See cases	GLikely benign
Select item 60280	GRCh38/hg38 7q22.1(chr7:99219420-100902269)x1	ACHE, ACTL6B +228 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 228545	NM_017460.6(CYP3A4):c.1463C>A (p.Pro488His)	CYP3A4 (P488H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1318112	NM_017460.6(CYP3A4):c.1461dup (p.Pro488fs)	CYP3A4 (P487fs +1 more)	Duplication (frameshift variant)	not provided	GLikely benign
Select item 3079615	NM_017460.6(CYP3A4):c.1327A>G (p.Ile443Val)	CYP3A4 (I443V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774657	NM_017460.6(CYP3A4):c.1253+9C>T	CYP3A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3079614	NM_017460.6(CYP3A4):c.1154G>A (p.Gly385Glu)	CYP3A4 (G384E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 670902	NM_017460.6(CYP3A4):c.1088C>T (p.Thr363Met)	CYP3A4 (T362M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2261326	NM_017460.6(CYP3A4):c.1040A>G (p.Tyr347Cys)	CYP3A4 (Y347C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2502287	NM_017460.6(CYP3A4):c.1026+12G>A	CYP3A4, LOC110366355	Single nucleotide variant (intron variant)	fentanyl response - Dosage +1 more	Gdrug response
Select item 982369	NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr)	CYP3A4 (I300T)	Single nucleotide variant (missense variant)	Vitamin D-dependent rickets, type 3	GPathogenic
Select item 1327418	NM_017460.6(CYP3A4):c.671-202C>T	CYP3A4	Single nucleotide variant (intron variant)	tacrolimus response - Metabolism/PK	Gdrug response
Select item 3270630	NM_017460.6(CYP3A4):c.640G>T (p.Asp214Tyr)	CYP3A4 (D214Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657726	NM_017460.6(CYP3A4):c.614A>G (p.Glu205Gly)	CYP3A4 (E205G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054024	NM_017460.6(CYP3A4):c.600A>G (p.Gln200=)	CYP3A4	Single nucleotide variant (synonymous variant)	CYP3A4-related disorder	GLikely benign
Select item 768183	NM_017460.6(CYP3A4):c.579C>T (p.Ile193=)	CYP3A4	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2232942	NM_017460.6(CYP3A4):c.576C>G (p.Asn192Lys)	CYP3A4 (N192K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530354	NM_017460.6(CYP3A4):c.375A>T (p.Glu125Asp)	CYP3A4 (E125D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556794	NM_017460.6(CYP3A4):c.73T>C (p.Tyr25His)	CYP3A4 (Y25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 16916	NC_000007.14:g.99784473C>T	CYP3A4, LOC110366354	Single nucleotide variant	not provided	GBenign
Select item 3245893	NC_000007.13:g.(?_94024344)_(100860555_?)del	ACHE, ACTL6B +106 more	Deletion	not provided	GPathogenic
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	ACHE, ACTL6B +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	GUncertain significance
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	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +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: 45