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

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2481585	NM_020203.6(MEPE):c.79A>C (p.Thr27Pro)	MEPE (T27P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2301083	NM_020203.6(MEPE):c.136G>T (p.Gly46Cys)	MEPE (G77C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2288078	NM_020203.6(MEPE):c.248G>A (p.Ser83Asn)	MEPE (S83N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380551	NM_020203.6(MEPE):c.265T>C (p.Tyr89His)	MEPE (Y120H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125355	NM_020203.6(MEPE):c.296A>T (p.Glu99Val)	MEPE (E99V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361971	NM_020203.6(MEPE):c.353C>T (p.Pro118Leu)	MEPE (P149L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240887	NM_020203.6(MEPE):c.479C>T (p.Ala160Val)	MEPE (A160V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2549512	NM_020203.6(MEPE):c.490C>G (p.Leu164Val)	MEPE (L195V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560711	NM_020203.6(MEPE):c.568C>T (p.His190Tyr)	MEPE (H221Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390462	NM_020203.6(MEPE):c.580A>G (p.Lys194Glu)	MEPE (K194E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354457	NM_020203.6(MEPE):c.617G>T (p.Ser206Ile)	MEPE (S206I +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2550072	NM_020203.6(MEPE):c.658A>G (p.Ile220Val)	MEPE (I251V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557953	NM_020203.6(MEPE):c.718G>T (p.Gly240Cys)	MEPE (G271C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2636119	NM_020203.6(MEPE):c.775G>A (p.Gly259Ser)	MEPE (G146S +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2618206	NM_020203.6(MEPE):c.812C>T (p.Ala271Val)	MEPE (A158V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403047	NM_020203.6(MEPE):c.851G>T (p.Gly284Val)	MEPE (G171V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125356	NM_020203.6(MEPE):c.853T>C (p.Phe285Leu)	MEPE (F316L +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2220430	NM_020203.6(MEPE):c.919C>T (p.Pro307Ser)	MEPE (P338S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328299	NM_020203.6(MEPE):c.930A>C (p.Glu310Asp)	MEPE (E341D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510990	NM_020203.6(MEPE):c.950T>C (p.Ile317Thr)	MEPE (I348T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400757	NM_020203.6(MEPE):c.971C>T (p.Ala324Val)	MEPE (A324V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3125358	NM_020203.6(MEPE):c.980C>T (p.Ala327Val)	MEPE (A358V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513932	NM_020203.6(MEPE):c.980C>A (p.Ala327Glu)	MEPE (A214E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477063	NM_020203.6(MEPE):c.1018G>A (p.Asp340Asn)	MEPE (D227N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316894	NM_020203.6(MEPE):c.1036A>C (p.Asn346His)	MEPE (N233H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125352	NM_020203.6(MEPE):c.1076A>G (p.Asp359Gly)	MEPE (D359G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223773	NM_020203.6(MEPE):c.1112A>G (p.Glu371Gly)	MEPE (E402G +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510211	NM_020203.6(MEPE):c.1130C>T (p.Ala377Val)	MEPE (A408V +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370053	NM_020203.6(MEPE):c.1153G>A (p.Glu385Lys)	MEPE (E385K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294266	NM_020203.6(MEPE):c.1157G>A (p.Gly386Asp)	MEPE (G273D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616002	NM_020203.6(MEPE):c.1315C>G (p.Pro439Ala)	MEPE (P470A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294265	NM_020203.6(MEPE):c.1322G>A (p.Arg441His)	MEPE (R328H +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2496337	NM_020203.6(MEPE):c.1411T>G (p.Tyr471Asp)	MEPE (Y358D +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2365329	NM_020203.6(MEPE):c.1412A>G (p.Tyr471Cys)	MEPE (Y502C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294582	NM_020203.6(MEPE):c.1454T>C (p.Met485Thr)	MEPE (M485T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125353	NM_020203.6(MEPE):c.1497C>A (p.Asn499Lys)	MEPE (N530K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618686	NM_020203.6(MEPE):c.1499G>T (p.Arg500Met)	MEPE (R387M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125354	NM_020203.6(MEPE):c.1534G>A (p.Glu512Lys)	MEPE (E399K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205084	NM_020203.6(MEPE):c.1555T>G (p.Ser519Ala)	MEPE (S550A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3294262	NM_020203.6(MEPE):c.1567G>A (p.Asp523Asn)	MEPE (D410N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 40