"Ambry Genetics"[submitter] AND "MSN"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2303058	NM_002444.3(MSN):c.58A>G (p.Ile20Val)	MSN (I20V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2292661	NM_002444.3(MSN):c.122A>G (p.Glu41Gly)	MSN (E41G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212051	NM_002444.3(MSN):c.144G>C (p.Gln48His)	MSN (Q48H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2723528	NM_002444.3(MSN):c.242G>A (p.Arg81His)	MSN (R81H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2613698	NM_002444.3(MSN):c.271G>A (p.Glu91Lys)	MSN (E91K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250464	NM_002444.3(MSN):c.388G>A (p.Val130Ile)	MSN (V130I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330152	NM_002444.3(MSN):c.884G>A (p.Arg295His)	MSN (R295H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212038	NM_002444.3(MSN):c.1168G>T (p.Ala390Ser)	MSN (A390S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296452	NM_002444.3(MSN):c.1178G>A (p.Arg393His)	MSN (R393H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2283244	NM_002444.3(MSN):c.1351A>G (p.Met451Val)	MSN (M451V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536697	NM_002444.3(MSN):c.1508G>A (p.Arg503His)	MSN (R503H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569311	NM_002444.3(MSN):c.1552G>C (p.Val518Leu)	MSN (V518L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2255971	NM_002444.3(MSN):c.1570G>A (p.Ala524Thr)	MSN (A524T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3296453	NM_002444.3(MSN):c.1645A>G (p.Met549Val)	MSN (M549V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance