"Ambry Genetics"[submitter] AND "LOC130057889"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3125384	NM_018670.4(MESP1):c.356G>T (p.Ser119Ile)	LOC130057889, MESP1 (S119I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125383	NM_018670.4(MESP1):c.347C>T (p.Ala116Val)	LOC130057889, MESP1 (A116V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125382	NM_018670.4(MESP1):c.346G>C (p.Ala116Pro)	LOC130057889, MESP1 (A116P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601888	NM_018670.4(MESP1):c.338T>C (p.Val113Ala)	LOC130057889, MESP1 (V113A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548708	NM_018670.4(MESP1):c.332C>T (p.Pro111Leu)	LOC130057889, MESP1 (P111L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2214297	NM_018670.4(MESP1):c.331C>G (p.Pro111Ala)	LOC130057889, MESP1 (P111A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474118	NM_018670.4(MESP1):c.309C>G (p.His103Gln)	LOC130057889, MESP1 (H103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125381	NM_018670.4(MESP1):c.296C>T (p.Ala99Val)	LOC130057889, MESP1 (A99V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517267	NM_018670.4(MESP1):c.256A>C (p.Ser86Arg)	LOC130057889, MESP1 (S86R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125380	NM_018670.4(MESP1):c.250A>G (p.Arg84Gly)	LOC130057889, MESP1 (R84G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125379	NM_018670.4(MESP1):c.248A>C (p.Gln83Pro)	LOC130057889, MESP1 (Q83P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1388855	NM_018670.4(MESP1):c.244G>C (p.Gly82Arg)	MESP1, LOC130057889 (G82R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2053517	NM_018670.4(MESP1):c.236T>C (p.Leu79Pro)	LOC130057889, MESP1 (L79P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3125378	NM_018670.4(MESP1):c.218G>C (p.Gly73Ala)	LOC130057889, MESP1 (G73A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457133	NM_018670.4(MESP1):c.217G>C (p.Gly73Arg)	LOC130057889, MESP1 (G73R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385578	NM_018670.4(MESP1):c.200C>G (p.Pro67Arg)	LOC130057889, MESP1 (P67R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363971	NM_018670.4(MESP1):c.191C>T (p.Pro64Leu)	LOC130057889, MESP1 (P64L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348968	NM_018670.4(MESP1):c.169C>T (p.Arg57Trp)	LOC130057889, MESP1 (R57W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3125376	NM_018670.4(MESP1):c.130G>A (p.Gly44Ser)	LOC130057889, MESP1 (G44S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360932	NM_018670.4(MESP1):c.125C>T (p.Ser42Leu)	LOC130057889, MESP1 (S42L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528271	NM_018670.4(MESP1):c.119C>T (p.Pro40Leu)	LOC130057889, MESP1 (P40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1500593	NM_018670.4(MESP1):c.97G>A (p.Gly33Ser)	LOC130057889, MESP1 (G33S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2218302	NM_018670.4(MESP1):c.68G>C (p.Arg23Pro)	LOC130057889, MESP1 (R23P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3125377	NM_018670.4(MESP1):c.20C>A (p.Pro7Gln)	LOC130057889, MESP1 (P7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234956	NM_018670.4(MESP1):c.20C>T (p.Pro7Leu)	LOC130057889, MESP1 (P7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564592	NM_018670.4(MESP1):c.19C>T (p.Pro7Ser)	LOC130057889, MESP1 (P7S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 26