EPHX1[gene] and "single gene"[properties] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236956	NM_001136018.4(EPHX1):c.-5-45G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1269020	NM_001136018.4(EPHX1):c.-5-29G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2219471	NM_001136018.4(EPHX1):c.34G>A (p.Gly12Ser)	EPHX1 (G12S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089708	NM_001136018.4(EPHX1):c.61C>T (p.Arg21Trp)	EPHX1 (R21W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2622638	NM_001136018.4(EPHX1):c.137A>G (p.Asp46Gly)	EPHX1 (D46G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786997	NM_001136018.4(EPHX1):c.145C>T (p.Arg49Cys)	EPHX1 (R49C)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1266914	NM_001136018.4(EPHX1):c.183+20G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272638	NM_001136018.4(EPHX1):c.184-220dup	EPHX1	Duplication (intron variant)	not provided	GBenign
Select item 1236761	NM_001136018.4(EPHX1):c.184-220del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1232422	NM_001136018.4(EPHX1):c.184-225_184-220del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1269503	NM_001136018.4(EPHX1):c.184-219_184-214del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1228965	NM_001136018.4(EPHX1):c.184-219_184-215del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1289817	NM_001136018.4(EPHX1):c.184-216_184-213del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1234932	NM_001136018.4(EPHX1):c.184-214_184-213del	EPHX1	Deletion (intron variant)	not provided	GBenign
Select item 1259870	NM_001136018.4(EPHX1):c.184-109G>T	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3037613	NM_001136018.4(EPHX1):c.204T>C (p.Asp68=)	EPHX1	Single nucleotide variant (synonymous variant +1 more)	EPHX1-related disorder	GBenign
Select item 709591	NM_001136018.4(EPHX1):c.212G>A (p.Arg71His)	EPHX1 (R71H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2305891	NM_001136018.4(EPHX1):c.232G>A (p.Asp78Asn)	EPHX1 (D69N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276007	NM_001136018.4(EPHX1):c.246C>G (p.His82Gln)	EPHX1 (H82Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 721070	NM_001136018.4(EPHX1):c.303T>C (p.Phe101=)	EPHX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 16604	NM_001136018.4(EPHX1):c.337T>C (p.Tyr113His)	EPHX1 (Y113H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1286409	NM_001136018.4(EPHX1):c.357G>A (p.Lys119=)	EPHX1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1234219	NM_001136018.4(EPHX1):c.364+114G>C	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268895	NM_001136018.4(EPHX1):c.365-114C>G	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 780301	NM_001136018.4(EPHX1):c.365-3C>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2227541	NM_001136018.4(EPHX1):c.370G>A (p.Asp124Asn)	EPHX1 (D124N +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2681259	NM_001136018.4(EPHX1):c.387C>T (p.His129=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 806367	NM_001136018.4(EPHX1):c.387C>A (p.His129Gln)	EPHX1 (H129Q +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2264544	NM_001136018.4(EPHX1):c.398C>G (p.Pro133Arg)	EPHX1 (P133R +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 16605	NM_001136018.4(EPHX1):c.416A>G (p.His139Arg)	EPHX1 (H139R +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1282637	NM_001136018.4(EPHX1):c.592+34G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 751922	NM_001136018.4(EPHX1):c.612C>T (p.Thr204=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3089709	NM_001136018.4(EPHX1):c.640C>T (p.Arg214Trp)	EPHX1 (R205W +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1298012	NM_001136018.4(EPHX1):c.722+21GT[21]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1282961	NM_001136018.4(EPHX1):c.722+21GT[20]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1276783	NM_001136018.4(EPHX1):c.722+21GT[19]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1251587	NM_001136018.4(EPHX1):c.722+21GT[22]	EPHX1	Microsatellite (intron variant)	not provided	GBenign
Select item 1281245	NM_001136018.4(EPHX1):c.722+149C>T	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1180067	NM_001136018.4(EPHX1):c.722+154A>G	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291307	NM_001136018.4(EPHX1):c.723-207T>C	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2599585	NM_001136018.4(EPHX1):c.727G>A (p.Val243Met)	EPHX1 (V234M +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2260852	NM_001136018.4(EPHX1):c.739C>T (p.His247Tyr)	EPHX1 (H171Y +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1251795	NM_001136018.4(EPHX1):c.741C>T (p.His247=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 780302	NM_001136018.4(EPHX1):c.762A>G (p.Leu254=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3046204	NM_001136018.4(EPHX1):c.768C>A (p.Asn256Lys)	EPHX1 (N180K +2 more)	Single nucleotide variant (missense variant +2 more)	EPHX1-related disorder	GLikely benign
Select item 3276011	NM_001136018.4(EPHX1):c.772T>C (p.Ser258Pro)	EPHX1 (S249P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3276008	NM_001136018.4(EPHX1):c.772T>G (p.Ser258Ala)	EPHX1 (S258A +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3058773	NM_001136018.4(EPHX1):c.778C>T (p.Leu260=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	EPHX1-related disorder	GLikely benign
Select item 561152	NM_001136018.4(EPHX1):c.823A>G (p.Thr275Ala)	EPHX1 (T275A +2 more)	Single nucleotide variant (missense variant +2 more)	Hypercholanemia, familial 1	GUncertain significance
Select item 1295081	NM_001136018.4(EPHX1):c.852C>T (p.Pro284=)	EPHX1	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 3089710	NM_001136018.4(EPHX1):c.853G>A (p.Val285Ile)	EPHX1 (V209I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2478821	NM_001136018.4(EPHX1):c.898A>G (p.Met300Val)	EPHX1 (M291V +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3089712	NM_001136018.4(EPHX1):c.919C>T (p.Pro307Ser)	EPHX1 (P231S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 1288596	NM_001136018.4(EPHX1):c.931+126G>A	EPHX1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 16607	EPHX1, 2557C-G	EPHX1	Single nucleotide variant	Hypercholanemia, familial 1	GUncertain significance
Select item 16606	EPHX1, -4238T-A	EPHX1	Single nucleotide variant	Hypercholanemia, familial 1	GUncertain significance

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Items: 56