"Ambry Genetics"[submitter] AND "SOX2-OT"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2405567	NM_003106.4(SOX2):c.56G>T (p.Gly19Val)	LOC108281177, SOX2 +1 more (G19V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521127	NM_003106.4(SOX2):c.70_86del (p.Asn24fs)	LOC108281177, SOX2 +1 more (N24fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2545055	NM_003106.4(SOX2):c.306G>A (p.Met102Ile)	LOC108281177, SOX2 +1 more (M102I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 521601	NM_003106.4(SOX2):c.334C>G (p.Pro112Ala)	LOC108281177, SOX2 +1 more (P112A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 3321635	NM_003106.4(SOX2):c.516C>G (p.Ser172Arg)	LOC108281177, SOX2 +1 more (S172R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321634	NM_003106.4(SOX2):c.556C>T (p.Leu186Phe)	SOX2, SOX2-OT (L186F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2569541	NM_003106.4(SOX2):c.568G>A (p.Gly190Ser)	SOX2, SOX2-OT (G190S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 12826	NM_003106.4(SOX2):c.571G>A (p.Ala191Thr)	SOX2, SOX2-OT (A191T)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GUncertain significance
Select item 3321632	NM_003106.4(SOX2):c.661C>T (p.Pro221Ser)	SOX2, SOX2-OT (P221S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331561	NM_003106.4(SOX2):c.662C>G (p.Pro221Arg)	SOX2, SOX2-OT (P221R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2515667	NM_003106.4(SOX2):c.790C>A (p.Pro264Thr)	SOX2, SOX2-OT (P264T)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GUncertain significance
Select item 1201570	NM_003106.4(SOX2):c.869G>C (p.Ser290Thr)	SOX2, SOX2-OT (S290T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1666173	NM_003106.4(SOX2):c.890A>G (p.His297Arg)	SOX2, SOX2-OT (H297R)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3167755	NM_003106.4(SOX2):c.897G>T (p.Gln299His)	SOX2, SOX2-OT (Q299H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331236	NM_003106.4(SOX2):c.940C>G (p.Leu314Val)	SOX2, SOX2-OT (L314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance