"Ambry Genetics"[submitter] AND "SOX3"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2546527	NM_005634.3(SOX3):c.1084G>A (p.Ala362Thr)	SOX3 (A362T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394342	NM_005634.3(SOX3):c.1060A>C (p.Thr354Pro)	SOX3 (T354P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2044067	NM_005634.3(SOX3):c.1008G>A (p.Met336Ile)	SOX3 (M336I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2569545	NM_005634.3(SOX3):c.968T>C (p.Val323Ala)	SOX3 (V323A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2081454	NM_005634.3(SOX3):c.956G>A (p.Ser319Asn)	SOX3 (S319N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2375186	NM_005634.3(SOX3):c.895A>T (p.Met299Leu)	SOX3 (M299L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569544	NM_005634.3(SOX3):c.893C>A (p.Pro298Gln)	SOX3 (P298Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2569543	NM_005634.3(SOX3):c.857G>C (p.Ser286Thr)	SOX3 (S286T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569542	NM_005634.3(SOX3):c.853C>G (p.Pro285Ala)	SOX3 (P285A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 590218	NM_005634.3(SOX3):c.753G>C (p.Pro251=)	SOX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 95304	NM_005634.3(SOX3):c.732A>C (p.Ala244=)	SOX3	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign
Select item 95303	NM_005634.3(SOX3):c.609T>C (p.Tyr203=)	SOX3	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 286290	NM_005634.3(SOX3):c.398G>T (p.Gly133Val)	SOX3 (G133V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2519895	NM_005634.3(SOX3):c.386G>C (p.Gly129Ala)	SOX3 (G129A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1034198	NM_005634.3(SOX3):c.337G>A (p.Ala113Thr)	SOX3 (A113T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1413844	NM_005634.3(SOX3):c.310G>A (p.Gly104Arg)	SOX3 (G104R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 95302	NM_005634.3(SOX3):c.307C>A (p.Pro103Thr)	SOX3 (P103T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 2608140	NM_005634.3(SOX3):c.305C>T (p.Ala102Val)	SOX3 (A102V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328818	NM_005634.3(SOX3):c.160G>A (p.Ala54Thr)	SOX3, LOC108281134 (A54T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 167718	NM_005634.3(SOX3):c.157G>C (p.Val53Leu)	LOC108281134, SOX3 (V53L)	Single nucleotide variant (missense variant)	History of neurodevelopmental disorder +3 more	GConflicting classifications of pathogenicity
Select item 2474517	NM_005634.3(SOX3):c.136G>A (p.Glu46Lys)	LOC108281134, SOX3 (E46K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 193322	NM_005634.3(SOX3):c.127G>A (p.Ala43Thr)	LOC108281134, SOX3 (A43T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign
Select item 193320	NM_005634.3(SOX3):c.14G>A (p.Arg5Gln)	LOC108281134, SOX3 (R5Q)	Single nucleotide variant (missense variant)	SOX3-related condition +5 more	GBenign/Likely benign

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Items: 23