"MESP1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2049052	NM_018670.4(MESP1):c.759C>G (p.Thr253=)	MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 3030080	NM_018670.4(MESP1):c.746C>T (p.Ala249Val)	MESP1 (A249V)	Single nucleotide variant (missense variant)	MESP1-related disorder	GUncertain significance
Select item 1601156	NM_018670.4(MESP1):c.687T>G (p.Pro229=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1629584	NM_018670.4(MESP1):c.669C>G (p.Phe223Leu)	LOC130057888, MESP1 (F223L)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign
Select item 1561757	NM_018670.4(MESP1):c.657G>T (p.Pro219=)	MESP1, LOC130057888	Single nucleotide variant (synonymous variant)	MESP1-related disorder +1 more	GBenign
Select item 1600508	NM_018670.4(MESP1):c.650G>A (p.Arg217His)	LOC130057888, MESP1 (R217H)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1537845	NM_018670.4(MESP1):c.520A>G (p.Met174Val)	LOC130057888, MESP1 (M174V)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign
Select item 1654286	NM_018670.4(MESP1):c.503A>G (p.Asp168Gly)	LOC130057888, MESP1 (D168G)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign
Select item 3043619	NM_018670.4(MESP1):c.465T>G (p.Gly155=)	LOC130057888, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related disorder	GLikely benign
Select item 1574446	NM_018670.4(MESP1):c.453C>G (p.Cys151Trp)	LOC130057888, MESP1 (C151W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1528118	NM_018670.4(MESP1):c.435G>T (p.Glu145Asp)	LOC130057888, MESP1 (E145D)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign
Select item 1539215	NM_018670.4(MESP1):c.345C>T (p.Pro115=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related disorder +1 more	GBenign/Likely benign
Select item 2042881	NM_018670.4(MESP1):c.241A>G (p.Ser81Gly)	LOC130057889, MESP1 (S81G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 2043907	NM_018670.4(MESP1):c.218G>A (p.Gly73Asp)	LOC130057889, MESP1 (G73D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1600664	NM_018670.4(MESP1):c.204C>T (p.Ser68=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1548747	NM_018670.4(MESP1):c.182T>G (p.Leu61Arg)	MESP1, LOC130057889 (L61R)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign
Select item 1600319	NM_018670.4(MESP1):c.174A>C (p.Pro58=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1206409	NM_018670.4(MESP1):c.158dup (p.Ser54fs)	LOC130057889, MESP1 (S54fs)	Duplication (frameshift variant)	MESP1-related disorder	GBenign
Select item 1598905	NM_018670.4(MESP1):c.157G>C (p.Ala53Pro)	LOC130057889, MESP1 (A53P)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign
Select item 1579217	NM_018670.4(MESP1):c.100C>G (p.Arg34Gly)	LOC130057889, MESP1 (R34G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1655893	NM_018670.4(MESP1):c.45C>T (p.Leu15=)	LOC130057889, MESP1	Single nucleotide variant (synonymous variant)	MESP1-related disorder +1 more	GBenign
Select item 1598688	NM_018670.4(MESP1):c.33G>C (p.Glu11Asp)	LOC130057889, MESP1 (E11D)	Single nucleotide variant (missense variant)	MESP1-related disorder +1 more	GBenign

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Items: 22