"PreventionGenetics, part of Exact Sciences"[submitter] AND "SOX4"[gen - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3053451	NM_003107.3(SOX4):c.63C>A (p.Asp21Glu)	SOX4 (D21E)	Single nucleotide variant (missense variant)	SOX4-related disorder	GLikely benign
Select item 720268	NM_003107.3(SOX4):c.82C>G (p.Leu28Val)	SOX4 (L28V)	Single nucleotide variant (missense variant)	SOX4-related disorder +1 more	GBenign
Select item 3030641	NM_003107.3(SOX4):c.418A>C (p.Asn140His)	SOX4 (N140H)	Single nucleotide variant (missense variant)	SOX4-related disorder	GLikely benign
Select item 3047333	NM_003107.3(SOX4):c.428C>T (p.Ser143Phe)	SOX4 (S143F)	Single nucleotide variant (missense variant)	SOX4-related disorder	GUncertain significance
Select item 712534	NM_003107.3(SOX4):c.486C>T (p.Gly162=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GBenign/Likely benign
Select item 2656267	NM_003107.3(SOX4):c.496_507del (p.His166_Gly169del)	SOX4	Deletion (inframe_deletion)	SOX4-related disorder +1 more	GBenign/Likely benign
Select item 3044064	NM_003107.3(SOX4):c.499_500insC (p.Gly167fs)	SOX4 (G167fs)	Insertion (frameshift variant)	SOX4-related disorder	GLikely benign
Select item 3044460	NM_003107.3(SOX4):c.502_503insCG (p.Gly168fs)	SOX4 (G168fs)	Insertion (frameshift variant)	SOX4-related disorder	GLikely benign
Select item 781863	NM_003107.3(SOX4):c.504CGG[6] (p.Gly173dup)	SOX4	Microsatellite (inframe_insertion)	SOX4-related disorder +1 more	GBenign
Select item 3037648	NM_003107.3(SOX4):c.504C>G (p.Gly168=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder	GLikely benign
Select item 2656270	NM_003107.3(SOX4):c.531G>C (p.Ala177=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GLikely benign
Select item 2656269	NM_003107.3(SOX4):c.531G>A (p.Ala177=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GBenign/Likely benign
Select item 2656272	NM_003107.3(SOX4):c.666CGG[6] (p.Gly227_Lys228insGly)	SOX4	Microsatellite (inframe_insertion)	SOX4-related disorder +1 more	GLikely benign
Select item 3031378	NM_003107.3(SOX4):c.780_781del (p.Tyr260_Lys261delinsTer)	SOX4, LOC129995965	Deletion (nonsense)	SOX4-related disorder	GLikely pathogenic
Select item 2631362	NM_003107.3(SOX4):c.851C>T (p.Pro284Leu)	LOC129995965, SOX4 (P284L)	Single nucleotide variant (missense variant)	SOX4-related disorder	GUncertain significance
Select item 1711620	NM_003107.3(SOX4):c.947C>T (p.Ala316Val)	LOC129995966, SOX4 (A316V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 786535	NM_003107.3(SOX4):c.1155CTC[2] (p.Ser392del)	SOX4 (S392del)	Microsatellite (inframe_deletion)	SOX4-related disorder +1 more	GBenign
Select item 714294	NM_003107.3(SOX4):c.1158C>T (p.Ser386=)	SOX4	Single nucleotide variant (synonymous variant)	SOX4-related disorder +1 more	GBenign
Select item 773468	NM_003107.3(SOX4):c.1215G>C (p.Leu405=)	SOX4	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign