EPHX4[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146350	GRCh38/hg38 1p31.1-21.1(chr1:83457325-104273917)x3	LINC01708, LINC01709 +549 more	Copy number gain	See cases	GPathogenic
Select item 146293	GRCh38/hg38 1p22.1(chr1:91626400-92362203)x3	BRDT, BTBD8 +18 more	Copy number gain	See cases	GUncertain significance
Select item 57784	GRCh38/hg38 1p22.1(chr1:91811903-92334237)x3	BRDT, BTBD8 +10 more	Copy number gain	See cases	GUncertain significance
Select item 2480444	NM_173567.5(EPHX4):c.16G>T (p.Asp6Tyr)	EPHX4 (D6Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511069	NM_173567.5(EPHX4):c.88C>T (p.Leu30Phe)	EPHX4 (L30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276025	NM_173567.5(EPHX4):c.146A>G (p.Gln49Arg)	EPHX4 (Q49R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276028	NM_173567.5(EPHX4):c.169G>A (p.Glu57Lys)	EPHX4 (E57K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089729	NM_173567.5(EPHX4):c.187C>G (p.Leu63Val)	EPHX4 (L63V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323084	NM_173567.5(EPHX4):c.199T>A (p.Ser67Thr)	EPHX4 (S67T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089730	NM_173567.5(EPHX4):c.391G>A (p.Gly131Arg)	EPHX4 (G131R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2220153	NM_173567.5(EPHX4):c.428A>C (p.Lys143Thr)	EPHX4 (K143T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282879	NM_173567.5(EPHX4):c.455A>G (p.Lys152Arg)	EPHX4 (K152R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089731	NM_173567.5(EPHX4):c.499G>T (p.Gly167Cys)	EPHX4 (G167C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485921	NM_173567.5(EPHX4):c.509G>C (p.Trp170Ser)	EPHX4 (W170S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276027	NM_173567.5(EPHX4):c.550G>A (p.Glu184Lys)	EPHX4 (E184K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480767	NM_173567.5(EPHX4):c.625G>A (p.Ala209Thr)	EPHX4 (A209T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558753	NM_173567.5(EPHX4):c.647A>G (p.Tyr216Cys)	EPHX4 (Y216C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332607	NM_173567.5(EPHX4):c.826G>A (p.Gly276Ser)	EPHX4 (G276S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536445	NM_173567.5(EPHX4):c.836A>G (p.Asn279Ser)	EPHX4 (N279S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089732	NM_173567.5(EPHX4):c.922G>A (p.Ala308Thr)	EPHX4 (A308T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276026	NM_173567.5(EPHX4):c.1080A>T (p.Lys360Asn)	EPHX4 (K360N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247790	NC_000001.10:g.(?_92457801)_(92949044_?)dup	BRDT, BTBD8 +5 more	Duplication	Neutropenia, severe congenital, 2, autosomal dominant	GUncertain significance
Select item 3247718	NC_000001.10:g.(?_91726847)_(93307422_?)dup	BRDT, BTBD8 +12 more	Duplication	Diamond-Blackfan anemia	GUncertain significance
Select item 1809458	GRCh37/hg19 1p22.1(chr1:92157808-92714991)x3	BRDT, BTBD8 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1527060	GRCh37/hg19 1p31.3-22.1(chr1:68180293-92731957)	MCOLN3, MIGA1 +97 more	Copy number loss	not specified	GPathogenic
Select item 981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	BRDT, BTBD8 +15 more	Copy number loss	Diamond-Blackfan anemia 6	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565125	GRCh37/hg19 1p22.1(chr1:92064829-92836061)x3	BTBD8, GLMN +6 more	Copy number gain	not provided	GUncertain significance
Select item 565124	GRCh37/hg19 1p22.2-22.1(chr1:91668330-93539185)x3	TGFBR3, GLMN +13 more	Copy number gain	not provided	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441908	GRCh37/hg19 1p31.1-22.1(chr1:72044544-92505091)x1	ACADM, ADGRL2 +80 more	Copy number loss	See cases	GPathogenic
Select item 425525	GRCh37/hg19 1p22.1(chr1:92241399-92656121)x3	TGFBR3, BTBD8 +2 more	Copy number gain	not provided	GUncertain significance

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Items: 33