"MEPE-related condition"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3042443	NM_020203.6(MEPE):c.122A>T (p.Asn41Ile)	MEPE (N41I +1 more)	Single nucleotide variant (missense variant +1 more)	MEPE-related condition	GBenign
Select item 3042673	NM_020203.6(MEPE):c.177A>G (p.Ser59=)	MEPE	Single nucleotide variant (synonymous variant +1 more)	MEPE-related condition	GLikely benign
Select item 2361971	NM_020203.6(MEPE):c.353C>T (p.Pro118Leu)	MEPE (P149L +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition +1 more	GConflicting classifications of pathogenicity
Select item 2629327	NM_020203.6(MEPE):c.365G>A (p.Gly122Glu)	MEPE (G122E +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition	GUncertain significance
Select item 3043486	NM_020203.6(MEPE):c.384T>C (p.Asp128=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related condition	GLikely benign
Select item 3032999	NM_020203.6(MEPE):c.430G>A (p.Ala144Thr)	MEPE (A144T +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition	GUncertain significance
Select item 3038619	NM_020203.6(MEPE):c.616A>G (p.Ser206Gly)	MEPE (S206G +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition	GBenign
Select item 3053532	NM_020203.6(MEPE):c.667C>T (p.Leu223=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related condition	GLikely benign
Select item 3052922	NM_020203.6(MEPE):c.681A>C (p.Ser227=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related condition	GBenign
Select item 3043442	NM_020203.6(MEPE):c.717C>T (p.Ser239=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related condition	GLikely benign
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 3043104	NM_020203.6(MEPE):c.876G>A (p.Glu292=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related condition	GLikely benign
Select item 3036358	NM_020203.6(MEPE):c.972G>A (p.Ala324=)	MEPE	Single nucleotide variant (synonymous variant)	MEPE-related condition	GLikely benign
Select item 767958	NM_020203.6(MEPE):c.1171G>A (p.Ala391Thr)	MEPE (A278T +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition +1 more	GBenign
Select item 767959	NM_020203.6(MEPE):c.1185C>G (p.Asn395Lys)	MEPE (N395K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767960	NM_020203.6(MEPE):c.1240T>G (p.Ser414Ala)	MEPE (S301A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 767961	NM_020203.6(MEPE):c.1346A>C (p.Asn449Thr)	MEPE (N449T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 3044778	NM_020203.6(MEPE):c.1393C>A (p.His465Asn)	MEPE (H352N +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition	GBenign
Select item 767962	NM_020203.6(MEPE):c.1441C>T (p.Arg481Trp)	MEPE (R481W +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2631127	NM_020203.6(MEPE):c.1456C>A (p.Pro486Thr)	MEPE (P373T +2 more)	Single nucleotide variant (missense variant)	MEPE-related condition	GUncertain significance
Select item 767963	NM_020203.6(MEPE):c.1461A>C (p.Gln487His)	MEPE (Q487H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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Items: 21