"Ambry Genetics"[submitter] AND "EPHX1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 3089713	NM_001136018.4(EPHX1):c.944A>G (p.Asn315Ser)	EPHX1, TMEM63A (N306S +3 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2467619	NM_001136018.4(EPHX1):c.982A>G (p.Lys328Glu)	EPHX1, TMEM63A (K319E +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089705	NM_001136018.4(EPHX1):c.1072G>A (p.Val358Ile)	EPHX1, TMEM63A (V169I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2275421	NM_001136018.4(EPHX1):c.1091C>T (p.Thr364Ile)	EPHX1, TMEM63A (T288I +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276010	NM_001136018.4(EPHX1):c.1094G>A (p.Gly365Asp)	EPHX1, TMEM63A (G289D +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407262	NM_001136018.4(EPHX1):c.1115G>A (p.Arg372His)	EPHX1, TMEM63A (R356H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089706	NM_001136018.4(EPHX1):c.1147A>C (p.Met383Leu)	EPHX1, TMEM63A (M307L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267850	NM_001136018.4(EPHX1):c.1165C>T (p.Arg389Trp)	EPHX1, TMEM63A (R200W +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276012	NM_001136018.4(EPHX1):c.1204C>G (p.Pro402Ala)	EPHX1, TMEM63A (P213A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276006	NM_001136018.4(EPHX1):c.1234T>C (p.Trp412Arg)	EPHX1, TMEM63A (W223R +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558064	NM_001136018.4(EPHX1):c.1305T>G (p.Phe435Leu)	EPHX1, TMEM63A (F246L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2375644	NM_001136018.4(EPHX1):c.1324G>A (p.Ala442Thr)	EPHX1, TMEM63A (A253T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3089707	NM_001136018.4(EPHX1):c.1328A>T (p.Gln443Leu)	EPHX1, TMEM63A (Q254L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 28