ClinVar for Gene (Select 347689) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383379	NM_003106.4(SOX2):c.544C>T (p.Gln182Ter)	LOC108281177, SOX2 +1 more (Q182*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
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 3363103	NM_003106.4(SOX2):c.935_936del (p.Leu312fs)	SOX2, SOX2-OT (L312fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
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 3340875	NM_003106.4(SOX2):c.871A>T (p.Arg291Ter)	SOX2, SOX2-OT (R291*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 3338557	NM_003106.4(SOX2):c.758del (p.Pro253fs)	SOX2, SOX2-OT (P253fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 3337616	NM_003106.4(SOX2):c.940del (p.Leu314fs)	SOX2, SOX2-OT (L314fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3337615	NM_003106.4(SOX2):c.131C>T (p.Pro44Leu)	LOC108281177, SOX2 +1 more (P44L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3336284	NM_003106.4(SOX2):c.*5C>G	SOX2, SOX2-OT	Single nucleotide variant (3 prime UTR variant)	not specified	GUncertain significance
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 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 3256118	NM_003106.4(SOX2):c.295G>T (p.Ala99Ser)	LOC108281177, SOX2 +1 more (A99S)	Single nucleotide variant (missense variant)	Cataract - microcornea syndrome	Gnot provided
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 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 3251883	NM_003106.4(SOX2):c.378G>A (p.Thr126=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3246890	NC_000003.11:g.(?_180702428)_(181592675_?)del	DNAJC19, SOX2 +1 more	Deletion	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
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 3235168	NM_003106.4(SOX2):c.775_778del (p.Ser259fs)	SOX2, SOX2-OT (S259fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
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 3148910	GRCh37/hg19 3q26.33-29(chr3:179313373-197851444)x3	ABCC5, ABCF3 +136 more	Copy number gain	See cases	GPathogenic
Select item 3062712	GRCh37/hg19 3q26.33-27.2(chr3:179391972-185539073)x1	ABCC5, ABCF3 +47 more	Copy number loss	not specified	GPathogenic
Select item 3062095	NM_003106.4(SOX2):c.142T>G (p.Phe48Val)	LOC108281177, SOX2 +1 more (F48V)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 3038104	NM_003106.4(SOX2):c.210G>A (p.Glu70=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	SOX2-related disorder	GLikely benign
Select item 3027253	NM_003106.4(SOX2):c.277G>C (p.Glu93Gln)	LOC108281177, SOX2 +1 more (E93Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024273	NM_003106.4(SOX2):c.554del (p.Gly185fs)	LOC108281177, SOX2 +1 more (G185fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2911393	NM_003106.4(SOX2):c.39C>A (p.Gly13=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2898255	NM_003106.4(SOX2):c.441C>T (p.Ala147=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2844603	NM_003106.4(SOX2):c.142_144del (p.Phe48del)	LOC108281177, SOX2 +1 more (F48del)	Deletion (inframe_deletion)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2823248	NM_003106.4(SOX2):c.25del (p.Glu8_Leu9insTer)	LOC108281177, SOX2 +1 more	Deletion (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2817774	NM_003106.4(SOX2):c.573A>G (p.Ala191=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2814306	NM_003106.4(SOX2):c.842C>G (p.Ala281Gly)	SOX2, SOX2-OT (A281G)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2809030	NM_003106.4(SOX2):c.69C>G (p.Gly23=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2789282	NM_003106.4(SOX2):c.552G>A (p.Pro184=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2788953	NM_003106.4(SOX2):c.21G>C (p.Thr7=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2782071	NM_003106.4(SOX2):c.819G>C (p.Met273Ile)	SOX2, SOX2-OT (M273I)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2780653	NM_003106.4(SOX2):c.936G>A (p.Leu312=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2763472	NM_003106.4(SOX2):c.328_329del (p.Tyr110fs)	LOC108281177, SOX2 +1 more (Y110fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2762119	NM_003106.4(SOX2):c.256G>T (p.Glu86Ter)	LOC108281177, SOX2 +1 more (E86*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2739833	NM_003106.4(SOX2):c.68G>T (p.Gly23Val)	LOC108281177, SOX2 +1 more (G23V)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2737796	NM_003106.4(SOX2):c.694A>G (p.Thr232Ala)	SOX2, SOX2-OT (T232A)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GBenign
Select item 2730686	NM_003106.4(SOX2):c.536G>T (p.Gly179Val)	LOC108281177, SOX2 +1 more (G179V)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2730067	NM_003106.4(SOX2):c.909G>C (p.Val303=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GBenign
Select item 2726498	NM_003106.4(SOX2):c.506G>A (p.Gly169Asp)	LOC108281177, SOX2 +1 more (G169D)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2726288	NM_003106.4(SOX2):c.591G>A (p.Met197Ile)	SOX2, SOX2-OT (M197I)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2693648	NM_003106.4(SOX2):c.81G>C (p.Ala27=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2671619	Single allele	ABCC5, ABCF3 +145 more	Duplication	not provided	GPathogenic
Select item 2671595	Single allele	MUC20, MUC4 +286 more	Duplication	not provided	GPathogenic
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 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 2634342	NM_003106.4(SOX2):c.241C>T (p.Leu81Phe)	LOC108281177, SOX2 +1 more (L81F)	Single nucleotide variant (missense variant)	SOX2-related disorder	GUncertain significance
Select item 2630457	NM_003106.4(SOX2):c.278dup (p.Ala94fs)	LOC108281177, SOX2 +1 more (A94fs)	Duplication (frameshift variant)	SOX2-related disorder	GLikely pathogenic
Select item 2582377	NM_003106.4(SOX2):c.621C>A (p.Tyr207Ter)	SOX2, SOX2-OT (Y207*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
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 2576613	NM_003106.4(SOX2):c.389G>A (p.Gly130Glu)	LOC108281177, SOX2 +1 more (G130E)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 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 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 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 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 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 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 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 2436256	NM_003106.4(SOX2):c.81GGC[4] (p.Ala30_Gly31insAla)	LOC108281177, SOX2 +1 more	Microsatellite (inframe_insertion)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2416318	NM_003106.4(SOX2):c.487A>G (p.Met163Val)	LOC108281177, SOX2 +1 more (M163V)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
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 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 2331236	NM_003106.4(SOX2):c.940C>G (p.Leu314Val)	SOX2, SOX2-OT (L314V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193772	NM_003106.4(SOX2):c.933A>T (p.Thr311=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome +1 more	GLikely benign
Select item 2189127	NM_003106.4(SOX2):c.852G>A (p.Pro284=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2189126	NM_003106.4(SOX2):c.843C>T (p.Ala281=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2156459	NM_003106.4(SOX2):c.742G>T (p.Ala248Ser)	SOX2, SOX2-OT (A248S)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2114440	NM_003106.4(SOX2):c.555C>A (p.Gly185=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2098215	NM_003106.4(SOX2):c.384del (p.Gly129fs)	LOC108281177, SOX2 +1 more (G129fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2095039	NM_003106.4(SOX2):c.505G>A (p.Gly169Ser)	LOC108281177, SOX2 +1 more (G169S)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 2080063	NM_003106.4(SOX2):c.828G>C (p.Met276Ile)	SOX2, SOX2-OT (M276I)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2077953	NM_003106.4(SOX2):c.700G>A (p.Gly234Ser)	SOX2, SOX2-OT (G234S)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GBenign
Select item 2075556	NM_003106.4(SOX2):c.912C>T (p.Pro304=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 2047344	NM_003106.4(SOX2):c.480del (p.Ser159_Tyr160insTer)	LOC108281177, SOX2 +1 more	Deletion (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 2040211	NM_003106.4(SOX2):c.423C>T (p.Ser141=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 1992360	NM_003106.4(SOX2):c.70_89dup (p.Gly31fs)	LOC108281177, SOX2 +1 more (G31fs)	Duplication (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 1989081	NM_003106.4(SOX2):c.398C>G (p.Ala133Gly)	LOC108281177, SOX2 +1 more (A133G)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 1966260	NM_003106.4(SOX2):c.85G>A (p.Ala29Thr)	LOC108281177, SOX2 +1 more (A29T)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 1927536	NM_003106.4(SOX2):c.837C>T (p.Pro279=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 1878615	NM_003106.4(SOX2):c.167G>C (p.Arg56Pro)	LOC108281177, SOX2 +1 more (R56P)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 1716441	NM_003106.4(SOX2):c.462C>A (p.Asn154Lys)	LOC108281177, SOX2 +1 more (N154K)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 1710512	GRCh37/hg19 3q26.33-27.2(chr3:181062175-185474509)x1	DCUN1D1, ALG3 +41 more	Copy number loss	not provided	GPathogenic
Select item 1710348	NM_003106.4(SOX2):c.103_110dup (p.Ser37fs)	LOC108281177, SOX2 +1 more (S37fs)	Duplication (frameshift variant)	Microphthalmia	GPathogenic
Select item 1710347	NM_003106.4(SOX2):c.154T>C (p.Ser52Pro)	LOC108281177, SOX2 +1 more (S52P)	Single nucleotide variant (missense variant)	Chorioretinal coloboma	GLikely pathogenic
Select item 1710324	NM_003106.4(SOX2):c.255_256delinsT (p.Glu86fs)	LOC108281177, SOX2 +1 more (E86fs)	Indel (frameshift variant)	Anophthalmia	GPathogenic
Select item 1709556	NM_003106.4(SOX2):c.241del (p.Leu81fs)	LOC108281177, SOX2 +1 more (L81fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 1707630	GRCh37/hg19 3q26.31-29(chr3:171558472-197871052)x3	CCDC50, MELTF +155 more	Copy number gain	Isolated anorectal malformation	GLikely pathogenic
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 1700169	NM_003106.4(SOX2):c.329A>C (p.Tyr110Ser)	LOC108281177, SOX2 +1 more (Y110S)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 1695088	NM_003106.4(SOX2):c.905del (p.Pro302fs)	SOX2, SOX2-OT (P302fs)	Deletion (frameshift variant)	not provided	GPathogenic
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

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