"GeneDx"[submitter] AND "SOX2"[gene] - ClinVar

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Items: 69

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	LOC123453201, LOC123453202 +1450 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC132088897, LOC132088898 +1201 more	Copy number gain	See cases	GPathogenic
Select item 57866	GRCh38/hg38 3q26.33(chr3:181710887-181748657)x1	LOC108281177, LOC108281178 +2 more	Copy number loss	See cases	GPathogenic
Select item 151735	GRCh38/hg38 3q26.33(chr3:181712160-181713165)x3	LOC108281177, SOX2 +1 more	Copy number gain	See cases	GBenign
Select item 1294227	NM_003106.4(SOX2):c.-37C>T	LOC108281177, SOX2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 378636	NM_003106.4(SOX2):c.-31C>T	LOC108281177, SOX2 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified	GBenign
Select item 682175	NM_003106.4(SOX2):c.-20G>T	LOC108281177, SOX2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 678529	NM_003106.4(SOX2):c.-11A>C	LOC108281177, SOX2 +1 more	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1327183	NM_003106.4(SOX2):c.42G>T (p.Pro14=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 467823	NM_003106.4(SOX2):c.45G>A (p.Gln15=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1913933	NM_003106.4(SOX2):c.52_53delinsAA (p.Ser18Lys)	LOC108281177, SOX2 +1 more (S18K)	Indel (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 279895	NM_003106.4(SOX2):c.59dup (p.Gly21fs)	LOC108281177, SOX2 +1 more (G21fs)	Duplication (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GPathogenic
Select item 193252	NM_003106.4(SOX2):c.54G>C (p.Ser18=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 3253237	NM_003106.4(SOX2):c.56_57delinsTT (p.Gly19Val)	LOC108281177, SOX2 +1 more (G19V)	Indel (missense variant)	not provided	GUncertain significance
Select item 3242251	NM_003106.4(SOX2):c.67_89del (p.Gly23fs)	LOC108281177, SOX2 +1 more (G23fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 94104	NM_003106.4(SOX2):c.70_89del (p.Asn24fs)	LOC108281177, SOX2 +1 more (N24fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
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 449939	NM_003106.4(SOX2):c.127C>T (p.Arg43Trp)	LOC108281177, SOX2 +1 more (R43W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2446148	NM_003106.4(SOX2):c.133A>C (p.Met45Leu)	LOC108281177, SOX2 +1 more (M45L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1344918	NM_003106.4(SOX2):c.156C>A (p.Ser52=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2577750	NM_003106.4(SOX2):c.160G>T (p.Gly54Trp)	LOC108281177, SOX2 +1 more (G54W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280092	NM_003106.4(SOX2):c.181C>T (p.Gln61Ter)	LOC108281177, SOX2 +1 more (Q61*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 450122	NM_003106.4(SOX2):c.198dup (p.His67fs)	LOC108281177, SOX2 +1 more (H67fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2443521	NM_003106.4(SOX2):c.209A>G (p.Glu70Gly)	LOC108281177, SOX2 +1 more (E70G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1683930	NM_003106.4(SOX2):c.227G>A (p.Gly76Asp)	LOC108281177, SOX2 +1 more (G76D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 516220	NM_003106.4(SOX2):c.243T>G (p.Leu81=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +2 more	GLikely benign
Select item 1300618	NM_003106.4(SOX2):c.254C>T (p.Thr85Met)	LOC108281177, SOX2 +1 more (T85M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 426163	NM_003106.4(SOX2):c.282dup (p.Lys95Ter)	LOC108281177, SOX2 +1 more (K95*)	Duplication (nonsense)	not provided	GPathogenic
Select item 1303152	NM_003106.4(SOX2):c.302A>G (p.His101Arg)	LOC108281177, SOX2 +1 more (H101R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313635	NM_003106.4(SOX2):c.334C>A (p.Pro112Thr)	LOC108281177, SOX2 +1 more (P112T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338767	NM_003106.4(SOX2):c.360G>C (p.Met120Ile)	LOC108281177, SOX2 +1 more (M120I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2444717	NM_003106.4(SOX2):c.383C>A (p.Pro128His)	LOC108281177, SOX2 +1 more (P128H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723828	NM_003106.4(SOX2):c.398C>T (p.Ala133Val)	LOC108281177, SOX2 +1 more (A133V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 986773	NM_003106.4(SOX2):c.402del (p.Gly135fs)	LOC108281177, SOX2 +1 more (G135fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2443567	NM_003106.4(SOX2):c.410A>G (p.Asn137Ser)	LOC108281177, SOX2 +1 more (N137S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 578226	NM_003106.4(SOX2):c.424G>C (p.Gly142Arg)	LOC108281177, SOX2 +1 more (G142R)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GUncertain significance
Select item 193251	NM_003106.4(SOX2):c.453G>A (p.Ala151=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1700474	NM_003106.4(SOX2):c.461A>C (p.Asn154Thr)	LOC108281177, SOX2 +1 more (N154T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252941	NM_003106.4(SOX2):c.469A>G (p.Met157Val)	LOC108281177, SOX2 +1 more (M157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 279896	NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter)	LOC108281177, SOX2 +1 more (Y160*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GPathogenic
Select item 1699551	NM_003106.4(SOX2):c.513C>G (p.Tyr171Ter)	LOC108281177, SOX2 +1 more (Y171*)	Single nucleotide variant (nonsense)	Anophthalmia +1 more	GPathogenic
Select item 12814	NM_003106.4(SOX2):c.529C>T (p.Gln177Ter)	LOC108281177, SOX2 +1 more (Q177*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 986775	NM_003106.4(SOX2):c.542del (p.Pro181fs)	LOC108281177, SOX2 +1 more (P181fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 383536	NM_003106.4(SOX2):c.552G>T (p.Pro184=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 1199697	NM_003106.4(SOX2):c.561T>C (p.Asn187=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 3365135	NM_003106.4(SOX2):c.575C>G (p.Ala192Gly)	SOX2, SOX2-OT (A192G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662541	NM_003106.4(SOX2):c.599A>G (p.Tyr200Cys)	SOX2, SOX2-OT (Y200C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303396	NM_003106.4(SOX2):c.604G>A (p.Val202Met)	SOX2, SOX2-OT (V202M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94103	NM_003106.4(SOX2):c.651G>T (p.Met217Ile)	SOX2, SOX2-OT (M217I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2503386	NM_003106.4(SOX2):c.687G>T (p.Gln229His)	SOX2, SOX2-OT (Q229H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342485	NM_003106.4(SOX2):c.749C>G (p.Ser250Cys)	SOX2, SOX2-OT (S250C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302955	NM_003106.4(SOX2):c.757C>G (p.Pro253Ala)	SOX2, SOX2-OT (P253A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 681395	NM_003106.4(SOX2):c.799G>A (p.Ala267Thr)	SOX2, SOX2-OT (A267T)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 449219	NM_003106.4(SOX2):c.800C>T (p.Ala267Val)	SOX2, SOX2-OT (A267V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302376	NM_003106.4(SOX2):c.814G>A (p.Asp272Asn)	SOX2-OT, SOX2 (D272N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 94105	NM_003106.4(SOX2):c.834C>T (p.Leu278=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 1195616	NM_003106.4(SOX2):c.840C>G (p.Gly280=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GLikely benign
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 3340875	NM_003106.4(SOX2):c.871A>T (p.Arg291Ter)	SOX2, SOX2-OT (R291*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2662219	NM_003106.4(SOX2):c.877C>A (p.His293Asn)	SOX2, SOX2-OT (H293N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1300373	NM_003106.4(SOX2):c.925A>T (p.Asn309Tyr)	SOX2, SOX2-OT (N309Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1261112	NM_003106.4(SOX2):c.*22G>A	SOX2, SOX2-OT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1245228	NM_003106.4(SOX2):c.*135dup	SOX2, SOX2-OT	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1192160	NM_003106.4(SOX2):c.*337A>G	SOX2, SOX2-OT	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1226892	NM_003106.4(SOX2):c.*469C>A	SOX2, SOX2-OT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1236417	NM_003106.4(SOX2):c.*557G>A	SOX2, SOX2-OT	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 253377	GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4	AADAC, AADACL2 +220 more	Copy number gain	See cases	GPathogenic
Select item 3360985	NM_003106.4(SOX2):c.411T>A (p.Asn137Lys)	SOX2 (N137K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 69