"GeneDx"[submitter] AND "SOX4"[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1233664	NM_003107.3(SOX4):c.-565C>A	SOX4	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 3252876	NM_003107.3(SOX4):c.27G>C (p.Glu9Asp)	SOX4 (E9D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2575638	NM_003107.3(SOX4):c.28A>G (p.Asn10Asp)	SOX4 (N10D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2507376	NM_003107.3(SOX4):c.32C>T (p.Thr11Met)	SOX4 (T11M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 987399	NM_003107.3(SOX4):c.182G>A (p.Arg61Gln)	SOX4 (R61Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2662322	NM_003107.3(SOX4):c.244C>T (p.Pro82Ser)	SOX4 (P82S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1691155	NM_003107.3(SOX4):c.289T>G (p.Trp97Gly)	SOX4 (W97G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 3340821	NM_003107.3(SOX4):c.291G>C (p.Trp97Cys)	SOX4 (W97C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2442531	NM_003107.3(SOX4):c.325_328del (p.Ile109fs)	SOX4 (I109fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3369261	NM_003107.3(SOX4):c.346C>A (p.Arg116Ser)	SOX4 (R116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430671	NM_003107.3(SOX4):c.347G>C (p.Arg116Pro)	SOX4 (R116P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1810069	NM_003107.3(SOX4):c.372del (p.Asp125fs)	SOX4 (D125fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1691217	NM_003107.3(SOX4):c.395A>G (p.Lys132Arg)	SOX4 (K132R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2500444	NM_003107.3(SOX4):c.649A>C (p.Lys217Gln)	SOX4 (K217Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506634	NM_003107.3(SOX4):c.741_748dup (p.Leu250fs)	SOX4 (L250fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2502664	NM_003107.3(SOX4):c.763G>T (p.Asp255Tyr)	SOX4 (D255Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2446081	NM_003107.3(SOX4):c.776del (p.Leu259fs)	SOX4 (L259fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2662331	NM_003107.3(SOX4):c.851C>G (p.Pro284Arg)	LOC129995965, SOX4 (P284R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1711620	NM_003107.3(SOX4):c.947C>T (p.Ala316Val)	LOC129995966, SOX4 (A316V)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2504759	NM_003107.3(SOX4):c.967G>A (p.Gly323Ser)	LOC129995966, SOX4 (G323S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1804564	NM_003107.3(SOX4):c.1078G>C (p.Gly360Arg)	SOX4 (G360R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363243	NM_003107.3(SOX4):c.1139C>A (p.Ser380Tyr)	SOX4 (S380Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369910	NM_003107.3(SOX4):c.1166C>G (p.Ser389Cys)	SOX4 (S389C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579320	NM_003107.3(SOX4):c.1167_1170del (p.Ser390fs)	SOX4 (S390fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2412935	NM_003107.3(SOX4):c.1177G>A (p.Gly393Ser)	SOX4 (G393S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367802	NM_003107.3(SOX4):c.1178G>C (p.Gly393Ala)	SOX4 (G393A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 809882	NM_003107.3(SOX4):c.1184C>A (p.Ser395Ter)	SOX4 (S395*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3363674	NM_003107.3(SOX4):c.1210G>A (p.Asp404Asn)	SOX4 (D404N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576707	NM_003107.3(SOX4):c.1239C>G (p.Asn413Lys)	SOX4 (N413K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365249	NM_003107.3(SOX4):c.1285G>C (p.Asp429His)	SOX4 (D429H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375910	NM_003107.3(SOX4):c.1325C>G (p.Ser442Trp)	SOX4 (S442W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443795	NM_003107.3(SOX4):c.1333G>T (p.Glu445Ter)	SOX4	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3373334	NM_003107.3(SOX4):c.1352C>T (p.Thr451Met)	SOX4 (T451M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370734	NM_003107.3(SOX4):c.1395dup (p.Ser466fs)	SOX4 (S466fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2444766	NM_003107.3(SOX4):c.1412T>C (p.Val471Ala)	SOX4 (V471A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1254085	NM_003107.3(SOX4):c.160_161del	SOX4	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 253526	GRCh37/hg19 6p25.3-22.3(chr6:168775-24023234)x3	STMND1, SYCP2L +95 more	Copy number gain	See cases	GPathogenic
Select item 3361605	NM_003107.3(SOX4):c.234G>A (p.Met78Ile)	SOX4 (M78I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361098	NM_003107.3(SOX4):c.703_738del (p.Ala235_Ala246del)	SOX4	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3360418	NM_003107.3(SOX4):c.98C>T (p.Ser33Phe)	SOX4 (S33F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 40