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

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3297081	NM_002461.3(MVD):c.1196C>G (p.Ala399Gly)	MVD (A399G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286713	NM_002461.3(MVD):c.1187C>G (p.Pro396Arg)	MVD (P396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462122	NM_002461.3(MVD):c.1060C>G (p.Leu354Val)	MVD (L354V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610011	NM_002461.3(MVD):c.1012A>G (p.Thr338Ala)	MVD (T338A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2546225	NM_002461.3(MVD):c.1001C>T (p.Ser334Leu)	MVD (S334L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297083	NM_002461.3(MVD):c.974C>T (p.Ala325Val)	MVD (A325V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548786	NM_002461.3(MVD):c.959C>T (p.Ala320Val)	MVD (A320V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297078	NM_002461.3(MVD):c.902C>T (p.Ala301Val)	MVD (A301V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403920	NM_002461.3(MVD):c.886G>A (p.Gly296Arg)	MVD (G296R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556018	NM_002461.3(MVD):c.874A>C (p.Asn292His)	MVD (N292H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297082	NM_002461.3(MVD):c.786G>C (p.Gln262His)	MVD (Q262H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533722	NM_002461.3(MVD):c.770T>C (p.Met257Thr)	MVD (M257T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454915	NM_002461.3(MVD):c.694G>A (p.Val232Met)	MVD (V232M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254871	NM_002461.3(MVD):c.694G>C (p.Val232Leu)	MVD (V232L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358332	NM_002461.3(MVD):c.688G>A (p.Glu230Lys)	MVD (E230K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408839	NM_002461.3(MVD):c.677G>T (p.Arg226Leu)	MVD (R226L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513235	NM_002461.3(MVD):c.676C>T (p.Arg226Trp)	MVD (R226W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474323	NM_002461.3(MVD):c.666C>A (p.Ser222Arg)	MVD (S222R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151578	NM_002461.3(MVD):c.637G>A (p.Val213Met)	MVD (V213M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557636	NM_002461.3(MVD):c.592C>T (p.Leu198Phe)	MVD (L198F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151568	NM_002461.3(MVD):c.565G>A (p.Glu189Lys)	MVD (E189K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258469	NM_002461.3(MVD):c.550C>T (p.Arg184Trp)	MVD (R184W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151561	NM_002461.3(MVD):c.529G>A (p.Asp177Asn)	MVD (D177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151558	NM_002461.3(MVD):c.521A>G (p.Glu174Gly)	MVD (E174G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151554	NM_002461.3(MVD):c.514A>T (p.Met172Leu)	MVD (M172L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151550	NM_002461.3(MVD):c.481C>T (p.Arg161Trp)	MVD (R161W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297077	NM_002461.3(MVD):c.442C>T (p.Leu148Phe)	MVD (L148F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151544	NM_002461.3(MVD):c.412C>G (p.Leu138Val)	MVD (L138V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207638	NM_002461.3(MVD):c.386C>T (p.Ala129Val)	MVD (A129V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1305389	NM_002461.3(MVD):c.359C>T (p.Thr120Met)	MVD (T120M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 3151535	NM_002461.3(MVD):c.334G>A (p.Val112Met)	MVD (V112M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151529	NM_002461.3(MVD):c.314G>T (p.Ser105Ile)	MVD (S105I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265263	NM_002461.3(MVD):c.304C>A (p.Leu102Met)	MVD (L102M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251069	NM_002461.3(MVD):c.293A>C (p.Asp98Ala)	MVD (D98A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3151519	NM_002461.3(MVD):c.290G>A (p.Arg97Gln)	MVD (R97Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258698	NM_002461.3(MVD):c.251G>A (p.Arg84Gln)	MVD (R84Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316161	NM_002461.3(MVD):c.224G>T (p.Gly75Val)	MVD (G75V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407108	NM_002461.3(MVD):c.209G>A (p.Arg70Gln)	MVD (R70Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597016	NM_002461.3(MVD):c.163G>A (p.Val55Ile)	MVD (V55I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297079	NM_002461.3(MVD):c.160G>A (p.Ala54Thr)	MVD (A54T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369151	NM_002461.3(MVD):c.105C>G (p.Ile35Met)	MVD (I35M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3297084	NM_002461.3(MVD):c.94G>T (p.Val32Phe)	MVD (V32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341434	NM_002461.3(MVD):c.82G>A (p.Asp28Asn)	MVD (D28N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2612707	NM_002461.3(MVD):c.79C>A (p.Arg27Ser)	MVD (R27S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536431	NM_002461.3(MVD):c.61A>C (p.Ile21Leu)	LOC130059740, MVD (I21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321665	NM_002461.3(MVD):c.26C>T (p.Ala9Val)	LOC130059740, MVD (A9V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 3151505	NM_002461.3(MVD):c.17C>A (p.Pro6Gln)	LOC130059740, MVD (P6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 47