"Ambry Genetics"[submitter] AND "LOC130065258"[gene] - ClinVar

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Search results

Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2254946	NM_006943.4(SOX12):c.347A>T (p.Lys116Met)	LOC130065258, SOX12 (K116M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408939	NM_006943.4(SOX12):c.352G>T (p.Ala118Ser)	LOC130065258, SOX12 (A118S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590441	NM_006943.4(SOX12):c.353C>A (p.Ala118Glu)	LOC130065258, SOX12 (A118E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259251	NM_006943.4(SOX12):c.418C>T (p.Pro140Ser)	LOC130065258, SOX12 (P140S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398151	NM_006943.4(SOX12):c.433C>T (p.Arg145Cys)	LOC130065258, SOX12 (R145C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321614	NM_006943.4(SOX12):c.478G>A (p.Ala160Thr)	LOC130065258, SOX12 (A160T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511959	NM_006943.4(SOX12):c.490G>T (p.Asp164Tyr)	LOC130065258, SOX12 (D164Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2332575	NM_006943.4(SOX12):c.551G>C (p.Arg184Pro)	LOC130065258, SOX12 (R184P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265745	NM_006943.4(SOX12):c.575C>A (p.Ala192Glu)	LOC130065258, SOX12 (A192E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476853	NM_006943.4(SOX12):c.599C>G (p.Ala200Gly)	LOC130065258, SOX12 (A200G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481818	NM_006943.4(SOX12):c.604C>G (p.Arg202Gly)	LOC130065258, SOX12 (R202G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283963	NM_006943.4(SOX12):c.611A>G (p.Gln204Arg)	LOC130065258, SOX12 (Q204R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605351	NM_006943.4(SOX12):c.622G>C (p.Gly208Arg)	LOC130065258, SOX12 (G208R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167713	NM_006943.4(SOX12):c.631G>A (p.Ala211Thr)	LOC130065258, SOX12 (A211T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229737	NM_006943.4(SOX12):c.646G>C (p.Ala216Pro)	LOC130065258, SOX12 (A216P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230437	NM_006943.4(SOX12):c.698A>C (p.Glu233Ala)	LOC130065258, SOX12 (E233A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2381549	NM_006943.4(SOX12):c.713A>C (p.Glu238Ala)	LOC130065258, SOX12 (E238A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3167714	NM_006943.4(SOX12):c.719G>C (p.Gly240Ala)	LOC130065258, SOX12 (G240A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262375	NM_006943.4(SOX12):c.731C>T (p.Thr244Met)	LOC130065258, SOX12 (T244M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3321615	NM_006943.4(SOX12):c.736G>A (p.Ala246Thr)	SOX12, LOC130065258 (A246T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 20