CYP3A43[gene] - ClinVar

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Items: 56

	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 2621968	NM_057095.3(CYP3A43):c.161T>C (p.Leu54Pro)	CYP3A43 (L54P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2454793	NM_057095.3(CYP3A43):c.223T>C (p.Tyr75His)	CYP3A43 (Y75H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 732217	NM_057095.3(CYP3A43):c.340C>T (p.Leu114=)	CYP3A43	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3270631	NM_057095.3(CYP3A43):c.349G>T (p.Ala117Ser)	CYP3A43 (A117S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 735139	NM_057095.3(CYP3A43):c.435G>T (p.Met145Ile)	CYP3A43 (M145I)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 2372332	NM_057095.3(CYP3A43):c.560C>T (p.Thr187Ile)	CYP3A43 (T187I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2465170	NM_057095.3(CYP3A43):c.634A>C (p.Lys212Gln)	CYP3A43 (K212Q)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079621	NM_057095.3(CYP3A43):c.661C>G (p.Leu221Val)	CYP3A43 (L221V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3079622	NM_057095.3(CYP3A43):c.704C>A (p.Ala235Asp)	CYP3A43 (A125D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323916	NM_057095.3(CYP3A43):c.757A>G (p.Ile253Val)	CYP3A43 (I143V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2392102	NM_057095.3(CYP3A43):c.768G>A (p.Met256Ile)	CYP3A43 (M146I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3079623	NM_057095.3(CYP3A43):c.777T>A (p.Ser259Arg)	CYP3A43 (S149R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079624	NM_057095.3(CYP3A43):c.820C>A (p.Gln274Lys)	CYP3A43 (Q164K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2554537	NM_057095.3(CYP3A43):c.853A>G (p.Lys285Glu)	CYP3A43 (K175E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2315619	NM_057095.3(CYP3A43):c.866C>T (p.Ala289Val)	CYP3A43 (A289V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079625	NM_057095.3(CYP3A43):c.937A>T (p.Thr313Ser)	CYP3A43 (T203S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2267103	NM_057095.3(CYP3A43):c.1006G>A (p.Asp336Asn)	CYP3A43 (D226N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1278238	NM_057095.3(CYP3A43):c.1018C>G (p.Pro340Ala)	CYP3A43 (P230A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3270632	NM_057095.3(CYP3A43):c.1030C>T (p.Pro344Ser)	CYP3A43 (P344S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079617	NM_057095.3(CYP3A43):c.1037C>T (p.Thr346Ile)	CYP3A43 (T236I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079618	NM_057095.3(CYP3A43):c.1045G>A (p.Ala349Thr)	CYP3A43 (A349T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079619	NM_057095.3(CYP3A43):c.1055A>C (p.Gln352Pro)	CYP3A43 (Q242P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3079620	NM_057095.3(CYP3A43):c.1157T>G (p.Val386Gly)	CYP3A43 (V276G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3270633	NM_057095.3(CYP3A43):c.1172G>C (p.Gly391Ala)	CYP3A43 (G281A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245223	NM_057095.3(CYP3A43):c.1192A>G (p.Ile398Val)	CYP3A43 (I288V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2252479	NM_057095.3(CYP3A43):c.1258A>G (p.Ser420Gly)	CYP3A43 (S420G +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604547	NM_057095.3(CYP3A43):c.1298T>C (p.Ile433Thr)	CYP3A43 (I323T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2237566	NM_057095.3(CYP3A43):c.1337G>A (p.Arg446Lys)	CYP3A43 (R446K +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2604548	NM_057095.3(CYP3A43):c.1373G>C (p.Arg458Thr)	CYP3A43 (R458T +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
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 1527379	GRCh37/hg19 7q22.1-31.1(chr7:99417471-111586308)	ACHE, ACTL6B +123 more	Copy number loss	not specified	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 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: 56