ClinVar for MedGen (Select 347232) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 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 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 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 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 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 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 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 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 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 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 1679309	NM_003106.4(SOX2):c.764_767dup (p.Ser257fs)	SOX2, SOX2-OT (S257fs)	Duplication (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 1671452	NM_003106.4(SOX2):c.861C>G (p.Ala287=)	SOX2, SOX2-OT	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GBenign
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 1632434	NM_003106.4(SOX2):c.560A>G (p.Asn187Ser)	SOX2, SOX2-OT (N187S)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GBenign
Select item 1631456	NM_003106.4(SOX2):c.540C>T (p.Tyr180=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 1593673	NM_003106.4(SOX2):c.468C>T (p.Arg156=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely benign
Select item 1457230	NM_003106.4(SOX2):c.537_538insGGGTA (p.Tyr180fs)	LOC108281177, SOX2 +1 more (Y180fs)	Insertion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 1387489	NM_003106.4(SOX2):c.497G>A (p.Trp166Ter)	LOC108281177, SOX2 +1 more (W166*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 1350991	NM_003106.4(SOX2):c.113C>T (p.Pro38Leu)	LOC108281177, SOX2 +1 more (P38L)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 1337934	NM_003106.4(SOX2):c.150G>A (p.Val50=)	LOC108281177, SOX2 +1 more	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1299707	NM_003106.4(SOX2):c.589A>G (p.Met197Val)	SOX2, SOX2-OT (M197V)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 1285485	NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter)	LOC108281177, SOX2 +1 more (Y110*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
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 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 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 1075154	NM_003106.4(SOX2):c.175del (p.Met59fs)	LOC108281177, SOX2 +1 more (M59fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 1065422	NM_003106.4(SOX2):c.498G>A (p.Trp166Ter)	LOC108281177, SOX2 +1 more (W166*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1038715	NM_003106.4(SOX2):c.287G>C (p.Arg96Pro)	LOC108281177, SOX2 +1 more (R96P)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 988074	NM_003106.4(SOX2):c.22G>T (p.Glu8Ter)	LOC108281177, SOX2 +1 more (E8*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic
Select item 986779	NM_003106.4(SOX2):c.943_944del (p.Ser315fs)	SOX2, SOX2-OT (S315fs)	Microsatellite (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986778	NM_003106.4(SOX2):c.58_59delinsT (p.Gly20fs)	LOC108281177, SOX2 +1 more (G20fs)	Indel (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986777	NM_003106.4(SOX2):c.59del (p.Gly20fs)	LOC108281177, SOX2 +1 more (G20fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986776	NM_003106.4(SOX2):c.538_542dup (p.Gln182fs)	LOC108281177, SOX2 +1 more (Q182fs)	Duplication (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 986774	NM_003106.4(SOX2):c.16G>T (p.Glu6Ter)	LOC108281177, SOX2 +1 more (E6*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986773	NM_003106.4(SOX2):c.402del (p.Gly135fs)	LOC108281177, SOX2 +1 more (G135fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 986772	NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter)	SOX2, SOX2-OT (Y200*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986771	NM_003106.4(SOX2):c.941del (p.Leu314fs)	SOX2, SOX2-OT (L314fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986770	NM_003106.4(SOX2):c.166C>G (p.Arg56Gly)	LOC108281177, SOX2 +1 more (R56G)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986769	NM_003106.4(SOX2):c.-13_43del (p.Met1fs)	LOC108281177, SOX2 +1 more (M1fs)	Deletion (frameshift variant +1 more)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986768	NM_003106.4(SOX2):c.486_487dup (p.Met163fs)	LOC108281177, SOX2 +1 more (M163fs)	Microsatellite (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986767	NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer)	SOX2, SOX2-OT	Indel (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986766	NM_003106.4(SOX2):c.828del (p.Met276fs)	SOX2-OT, SOX2 (M276fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986765	NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup)	LOC108281177, SOX2 +1 more	Microsatellite (inframe_insertion)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GUncertain significance
Select item 986764	NM_003106.4(SOX2):c.310G>T (p.Glu104Ter)	LOC108281177, SOX2 +1 more (E104*)	Single nucleotide variant (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986763	NM_003106.4(SOX2):c.131C>G (p.Pro44Arg)	LOC108281177, SOX2 +1 more (P44R)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986762	NM_003106.4(SOX2):c.921_930del (p.Ile308fs)	SOX2, SOX2-OT (I308fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986761	GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1	ATP11B, SOX2 +11 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986760	GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1	SOX2, SOX2-OT	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986759	NM_003106.4(SOX2):c.859G>C (p.Ala287Pro)	SOX2, SOX2-OT (A287P)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GBenign
Select item 986758	GRCh37/hg19 3q27.1(chr3:182871341-182987855)x1	B3GNT5, LAMP3 +1 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986757	GRCh37/hg19 3q27.1(chr3:182902731-182945128)x1	MCF2L2	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986756	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1	ECE2, FAM131A +34 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986755	t(3;11)(q27;p11.2)		Translocation	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 986754	GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1	SOX2-OT, TTC14 +4 more	Copy number loss	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 976481	NM_003106.4(SOX2):c.87_96dup (p.Asn33fs)	LOC108281177, SOX2 +1 more (N33fs)	Duplication (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 954296	NM_003106.4(SOX2):c.388_391del (p.Gly130fs)	LOC108281177, SOX2 +1 more (G130fs)	Deletion (frameshift variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic
Select item 947562	NM_003106.4(SOX2):c.143T>C (p.Phe48Ser)	LOC108281177, SOX2 +1 more (F48S)	Single nucleotide variant (missense variant)	Anophthalmia/microphthalmia-esophageal atresia syndrome	GLikely pathogenic

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