ClinVar for MedGen (Select 347232) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25766131.	NM_003106.4(SOX2):c.389G>A (p.Gly130Glu) GRCh37: Chr3:181430537 GRCh38: Chr3:181712749	LOC108281177, SOX2, SOX2-OT	G130E	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Jun 29, 2023)	criteria provided, single submitter
Select item 24362562.	NM_003106.4(SOX2):c.81GGC[4] (p.Ala30_Gly31insAla) GRCh37: Chr3:181430226-181430227 GRCh38: Chr3:181712438-181712439	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Nov 1, 2019)	criteria provided, single submitter
Select item 24163183.	NM_003106.4(SOX2):c.487A>G (p.Met163Val) GRCh37: Chr3:181430635 GRCh38: Chr3:181712847	LOC108281177, SOX2, SOX2-OT	M163V	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 21937724.	NM_003106.4(SOX2):c.933A>T (p.Thr311=) GRCh37: Chr3:181431081 GRCh38: Chr3:181713293	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 21891275.	NM_003106.4(SOX2):c.852G>A (p.Pro284=) GRCh37: Chr3:181431000 GRCh38: Chr3:181713212	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 21891266.	NM_003106.4(SOX2):c.843C>T (p.Ala281=) GRCh37: Chr3:181430991 GRCh38: Chr3:181713203	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 21564597.	NM_003106.4(SOX2):c.742G>T (p.Ala248Ser) GRCh37: Chr3:181430890 GRCh38: Chr3:181713102	SOX2-OT, SOX2	A248S	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 21144408.	NM_003106.4(SOX2):c.555C>A (p.Gly185=) GRCh37: Chr3:181430703 GRCh38: Chr3:181712915	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Apr 30, 2022)	criteria provided, single submitter
Select item 20982159.	NM_003106.4(SOX2):c.384del (p.Gly129fs) GRCh37: Chr3:181430530 GRCh38: Chr3:181712742	LOC108281177, SOX2, SOX2-OT	G129fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Sep 21, 2022)	criteria provided, single submitter
Select item 209503910.	NM_003106.4(SOX2):c.505G>A (p.Gly169Ser) GRCh37: Chr3:181430653 GRCh38: Chr3:181712865	LOC108281177, SOX2, SOX2-OT	G169S	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Feb 8, 2022)	criteria provided, single submitter
Select item 208006311.	NM_003106.4(SOX2):c.828G>C (p.Met276Ile) GRCh37: Chr3:181430976 GRCh38: Chr3:181713188	SOX2, SOX2-OT	M276I	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 207795312.	NM_003106.4(SOX2):c.700G>A (p.Gly234Ser) GRCh37: Chr3:181430848 GRCh38: Chr3:181713060	SOX2-OT, SOX2	G234S	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Oct 20, 2022)	criteria provided, single submitter
Select item 207555613.	NM_003106.4(SOX2):c.912C>T (p.Pro304=) GRCh37: Chr3:181431060 GRCh38: Chr3:181713272	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 204734414.	NM_003106.4(SOX2):c.480del (p.Ser159_Tyr160insTer) GRCh37: Chr3:181430628 GRCh38: Chr3:181712840	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Dec 18, 2021)	criteria provided, single submitter
Select item 204021115.	NM_003106.4(SOX2):c.423C>T (p.Ser141=) GRCh37: Chr3:181430571 GRCh38: Chr3:181712783	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 199236016.	NM_003106.4(SOX2):c.70_89dup (p.Gly31fs) GRCh37: Chr3:181430206-181430207 GRCh38: Chr3:181712418-181712419	LOC108281177, SOX2, SOX2-OT	G31fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely pathogenic (Jun 21, 2022)	criteria provided, single submitter
Select item 198908117.	NM_003106.4(SOX2):c.398C>G (p.Ala133Gly) GRCh37: Chr3:181430546 GRCh38: Chr3:181712758	LOC108281177, SOX2, SOX2-OT	A133G	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 196626018.	NM_003106.4(SOX2):c.85G>A (p.Ala29Thr) GRCh37: Chr3:181430233 GRCh38: Chr3:181712445	LOC108281177, SOX2, SOX2-OT	A29T	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 192753619.	NM_003106.4(SOX2):c.837C>T (p.Pro279=) GRCh37: Chr3:181430985 GRCh38: Chr3:181713197	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 191393320.	NM_003106.4(SOX2):c.52_53delinsAA (p.Ser18Lys) GRCh37: Chr3:181430200-181430201 GRCh38: Chr3:181712412-181712413	LOC108281177, SOX2, SOX2-OT	S18K	not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Conflicting interpretations of pathogenicity (Nov 15, 2022)	criteria provided, conflicting interpretations
Select item 187861521.	NM_003106.4(SOX2):c.167G>C (p.Arg56Pro) GRCh37: Chr3:181430315 GRCh38: Chr3:181712527	LOC108281177, SOX2, SOX2-OT	R56P	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance	criteria provided, single submitter
Select item 171644122.	NM_003106.4(SOX2):c.462C>A (p.Asn154Lys) GRCh37: Chr3:181430610 GRCh38: Chr3:181712822	LOC108281177, SOX2, SOX2-OT	N154K	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Aug 14, 2022)	criteria provided, single submitter
Select item 170955623.	NM_003106.4(SOX2):c.241del (p.Leu81fs) GRCh37: Chr3:181430389 GRCh38: Chr3:181712601	LOC108281177, SOX2, SOX2-OT	L81fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely pathogenic (Jul 22, 2022)	criteria provided, single submitter
Select item 170016924.	NM_003106.4(SOX2):c.329A>C (p.Tyr110Ser) GRCh37: Chr3:181430477 GRCh38: Chr3:181712689	LOC108281177, SOX2, SOX2-OT	Y110S	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	criteria provided, single submitter
Select item 167930925.	NM_003106.4(SOX2):c.764_767dup (p.Ser257fs) GRCh37: Chr3:181430911-181430912 GRCh38: Chr3:181713123-181713124	SOX2, SOX2-OT	S257fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 167145226.	NM_003106.4(SOX2):c.861C>G (p.Ala287=) GRCh37: Chr3:181431009 GRCh38: Chr3:181713221	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Benign (Aug 10, 2022)	criteria provided, single submitter
Select item 166617327.	NM_003106.4(SOX2):c.890A>G (p.His297Arg) GRCh37: Chr3:181431038 GRCh38: Chr3:181713250	SOX2, SOX2-OT	H297R	Anophthalmia/microphthalmia-esophageal atresia syndrome, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Nov 29, 2021)	criteria provided, conflicting interpretations
Select item 163243428.	NM_003106.4(SOX2):c.560A>G (p.Asn187Ser) GRCh37: Chr3:181430708 GRCh38: Chr3:181712920	SOX2-OT, SOX2	N187S	Anophthalmia/microphthalmia-esophageal atresia syndrome	Benign (Oct 17, 2022)	criteria provided, single submitter
Select item 163145629.	NM_003106.4(SOX2):c.540C>T (p.Tyr180=) GRCh37: Chr3:181430688 GRCh38: Chr3:181712900	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Apr 17, 2021)	criteria provided, single submitter
Select item 159367330.	NM_003106.4(SOX2):c.468C>T (p.Arg156=) GRCh37: Chr3:181430616 GRCh38: Chr3:181712828	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Jul 6, 2021)	criteria provided, single submitter
Select item 145723031.	NM_003106.4(SOX2):c.537_538insGGGTA (p.Tyr180fs) GRCh37: Chr3:181430685-181430686 GRCh38: Chr3:181712897-181712898	LOC108281177, SOX2, SOX2-OT	Y180fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Jun 22, 2021)	criteria provided, single submitter
Select item 138748932.	NM_003106.4(SOX2):c.497G>A (p.Trp166Ter) GRCh37: Chr3:181430645 GRCh38: Chr3:181712857	LOC108281177, SOX2, SOX2-OT	W166*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 135099133.	NM_003106.4(SOX2):c.113C>T (p.Pro38Leu) GRCh37: Chr3:181430261 GRCh38: Chr3:181712473	LOC108281177, SOX2, SOX2-OT	P38L	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Oct 28, 2022)	criteria provided, single submitter
Select item 129970734.	NM_003106.4(SOX2):c.589A>G (p.Met197Val) GRCh37: Chr3:181430737 GRCh38: Chr3:181712949	SOX2, SOX2-OT	M197V	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Nov 20, 2020)	no assertion criteria provided
Select item 128548535.	NM_003106.4(SOX2):c.330C>G (p.Tyr110Ter) GRCh37: Chr3:181430478 GRCh38: Chr3:181712690	LOC108281177, SOX2, SOX2-OT	Y110*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely pathogenic (Dec 9, 2020)	criteria provided, single submitter
Select item 120157036.	NM_003106.4(SOX2):c.869G>C (p.Ser290Thr) GRCh37: Chr3:181431017 GRCh38: Chr3:181713229	SOX2, SOX2-OT	S290T	Inborn genetic diseases, Anophthalmia/microphthalmia-esophageal atresia syndrome, not provided	Conflicting interpretations of pathogenicity (Jul 17, 2022)	criteria provided, conflicting interpretations
Select item 119969737.	NM_003106.4(SOX2):c.561T>C (p.Asn187=) GRCh37: Chr3:181430709 GRCh38: Chr3:181712921	SOX2, SOX2-OT		not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Aug 15, 2022)	criteria provided, multiple submitters, no conflicts
Select item 119561638.	NM_003106.4(SOX2):c.840C>G (p.Gly280=) GRCh37: Chr3:181430988 GRCh38: Chr3:181713200	SOX2-OT, SOX2		Anophthalmia/microphthalmia-esophageal atresia syndrome, not provided	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 107515439.	NM_003106.4(SOX2):c.175del (p.Met59fs) GRCh37: Chr3:181430323 GRCh38: Chr3:181712535	SOX2-OT, LOC108281177, SOX2	M59fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 24, 2021)	criteria provided, single submitter
Select item 106542240.	NM_003106.4(SOX2):c.498G>A (p.Trp166Ter) GRCh37: Chr3:181430646 GRCh38: Chr3:181712858	LOC108281177, SOX2, SOX2-OT	W166*	not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Jun 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 103871541.	NM_003106.4(SOX2):c.287G>C (p.Arg96Pro) GRCh37: Chr3:181430435 GRCh38: Chr3:181712647	LOC108281177, SOX2, SOX2-OT	R96P	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 98807442.	NM_003106.4(SOX2):c.22G>T (p.Glu8Ter) GRCh37: Chr3:181430170 GRCh38: Chr3:181712382	LOC108281177, SOX2, SOX2-OT	E8*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely pathogenic (Nov 26, 2020)	criteria provided, single submitter
Select item 98677943.	NM_003106.4(SOX2):c.943_944del (p.Ser315fs) GRCh37: Chr3:181431088-181431089 GRCh38: Chr3:181713300-181713301	SOX2, SOX2-OT	S315fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677844.	NM_003106.4(SOX2):c.58_59delinsT (p.Gly20fs) GRCh37: Chr3:181430206-181430207 GRCh38: Chr3:181712418-181712419	LOC108281177, SOX2, SOX2-OT	G20fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677745.	NM_003106.4(SOX2):c.59del (p.Gly20fs) GRCh37: Chr3:181430202 GRCh38: Chr3:181712414	LOC108281177, SOX2, SOX2-OT	G20fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677646.	NM_003106.4(SOX2):c.538_542dup (p.Gln182fs) GRCh37: Chr3:181430684-181430685 GRCh38: Chr3:181712896-181712897	LOC108281177, SOX2, SOX2-OT	Q182fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677547.	NM_003106.4(SOX2):c.542del (p.Pro181fs) GRCh37: Chr3:181430688 GRCh38: Chr3:181712900	LOC108281177, SOX2, SOX2-OT	P181fs	not provided	Pathogenic (Dec 21, 2020)	criteria provided, single submitter
Select item 98677448.	NM_003106.4(SOX2):c.16G>T (p.Glu6Ter) GRCh37: Chr3:181430164 GRCh38: Chr3:181712376	LOC108281177, SOX2, SOX2-OT	E6*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677349.	NM_003106.4(SOX2):c.402del (p.Gly135fs) GRCh37: Chr3:181430546 GRCh38: Chr3:181712758	LOC108281177, SOX2, SOX2-OT	G135fs	not provided	Pathogenic (May 5, 2020)	criteria provided, single submitter
Select item 98677250.	NM_003106.4(SOX2):c.600C>G (p.Tyr200Ter) GRCh37: Chr3:181430748 GRCh38: Chr3:181712960	SOX2, SOX2-OT	Y200*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677151.	NM_003106.4(SOX2):c.941del (p.Leu314fs) GRCh37: Chr3:181431089 GRCh38: Chr3:181713301	SOX2, SOX2-OT	L314fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98677052.	NM_003106.4(SOX2):c.166C>G (p.Arg56Gly) GRCh37: Chr3:181430314 GRCh38: Chr3:181712526	LOC108281177, SOX2, SOX2-OT	R56G	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676953.	NM_003106.4(SOX2):c.-13_43del (p.Met1fs) GRCh37: Chr3:181430125-181430180 GRCh38: Chr3:181712337-181712392	LOC108281177, SOX2, SOX2-OT	M1fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676854.	NM_003106.4(SOX2):c.486_487dup (p.Met163fs) GRCh37: Chr3:181430631-181430632 GRCh38: Chr3:181712843-181712844	LOC108281177, SOX2, SOX2-OT	M163fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676755.	NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer) GRCh37: Chr3:181430730-181430731 GRCh38: Chr3:181712942-181712943	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676656.	NM_003106.4(SOX2):c.828del (p.Met276fs) GRCh37: Chr3:181430976 GRCh38: Chr3:181713188	SOX2-OT, SOX2	M276fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676557.	NM_003106.4(SOX2):c.58GGC[5] (p.Gly23dup) GRCh37: Chr3:181430205-181430206 GRCh38: Chr3:181712417-181712418	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance	no assertion criteria provided
Select item 98676458.	NM_003106.4(SOX2):c.310G>T (p.Glu104Ter) GRCh37: Chr3:181430458 GRCh38: Chr3:181712670	LOC108281177, SOX2, SOX2-OT	E104*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676359.	NM_003106.4(SOX2):c.131C>G (p.Pro44Arg) GRCh37: Chr3:181430279 GRCh38: Chr3:181712491	LOC108281177, SOX2, SOX2-OT	P44R	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676260.	NM_003106.4(SOX2):c.921_930del (p.Ile308fs) GRCh37: Chr3:181431064-181431073 GRCh38: Chr3:181713276-181713285	SOX2, SOX2-OT	I308fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676161.	GRCh37/hg19 3q26.33-27.1(chr3:180834336-183551661)x1 GRCh37: Chr3:180834336-183551661	ATP11B, SOX2, SOX2-OT, YEATS2, DCUN1D1, B3GNT5, KLHL24, KLHL6, MCF2L2, PARL, LAMP3, MAP6D1, MCCC1		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98676062.	GRCh37/hg19 3q26.33(chr3:180913778-181432287)x1 GRCh37: Chr3:180913778-181432287	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98675963.	NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) GRCh37: Chr3:181431007 GRCh38: Chr3:181713219	SOX2, SOX2-OT	A287P	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Mar 19, 2022)	criteria provided, single submitter
Select item 98675864.	GRCh37/hg19 3q27.1(chr3:182871341-182987855)x1 GRCh37: Chr3:182871341-182987855	B3GNT5, LAMP3, MCF2L2		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98675765.	GRCh37/hg19 3q27.1(chr3:182902731-182945128)x1 GRCh37: Chr3:182902731-182945128	MCF2L2		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98675666.	GRCh37/hg19 3q26.33-27.2(chr3:181171210-184706091)x1 GRCh37: Chr3:181171210-184706091	ECE2, FAM131A, HTR3C, HTR3D, HTR3E, KLHL24, KLHL6, LAMP3, MCCC1, MCF2L2, MAGEF1, MAP6D1, MIR1224, PARL, POLR2H, PSMD2, SOX2, SOX2-OT, THPO, VPS8, VWA5B2, YEATS2, ABCC5, ABCF3, ALG3, AP2M1, ATP11B, B3GNT5, CLCN2, CAMK2N2, CHRD, DCUN1D1, EIF2B5, EIF4G1, EPHB3, DVL3		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98675567.	t(3;11)(q27;p11.2)			Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 98675468.	GRCh37/hg19 3q26.33(chr3:180102701-181991155)x1 GRCh37: Chr3:180102701-181991155	SOX2-OT, TTC14, CCDC39, DNAJC19, FXR1, SOX2		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic	no assertion criteria provided
Select item 97648169.	NM_003106.4(SOX2):c.87_96dup (p.Asn33fs) GRCh37: Chr3:181430227-181430228 GRCh38: Chr3:181712439-181712440	LOC108281177, SOX2, SOX2-OT	N33fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Feb 8, 2019)	no assertion criteria provided
Select item 95429670.	NM_003106.4(SOX2):c.388_391del (p.Gly130fs) GRCh37: Chr3:181430533-181430536 GRCh38: Chr3:181712745-181712748	SOX2-OT, LOC108281177, SOX2	G130fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 30, 2021)	criteria provided, single submitter
Select item 94756271.	NM_003106.4(SOX2):c.143T>C (p.Phe48Ser) GRCh37: Chr3:181430291 GRCh38: Chr3:181712503	LOC108281177, SOX2, SOX2-OT	F48S	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely pathogenic (Aug 27, 2021)	criteria provided, single submitter
Select item 93024372.	NM_003106.4(SOX2):c.100C>T (p.Gln34Ter) GRCh37: Chr3:181430248 GRCh38: Chr3:181712460	LOC108281177, SOX2, SOX2-OT	Q34*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Dec 3, 2018)	criteria provided, single submitter
Select item 85978673.	NM_003106.4(SOX2):c.3dup (p.Tyr2fs) GRCh37: Chr3:181430150-181430151 GRCh38: Chr3:181712362-181712363	LOC108281177, SOX2, SOX2-OT	Y2fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 31, 2021)	criteria provided, single submitter
Select item 85575474.	NM_003106.4(SOX2):c.53C>A (p.Ser18Ter) GRCh37: Chr3:181430201 GRCh38: Chr3:181712413	LOC108281177, SOX2, SOX2-OT	S18*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Dec 19, 2019)	criteria provided, single submitter
Select item 74234275.	NM_003106.4(SOX2):c.429C>A (p.Val143=) GRCh37: Chr3:181430577 GRCh38: Chr3:181712789	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 73283576.	NM_003106.4(SOX2):c.861C>T (p.Ala287=) GRCh37: Chr3:181431009 GRCh38: Chr3:181713221	SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 70542777.	NM_003106.4(SOX2):c.231C>A (p.Ala77=) GRCh37: Chr3:181430379 GRCh38: Chr3:181712591	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Benign (Aug 6, 2022)	criteria provided, single submitter
Select item 59927678.	NM_003106.4(SOX2):c.385_386del (p.Gly129fs) GRCh37: Chr3:181430533-181430534 GRCh38: Chr3:181712745-181712746	LOC108281177, SOX2, SOX2-OT	G129fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 31, 2018)	criteria provided, single submitter
Select item 59798979.	NM_003106.4(SOX2):c.76A>G (p.Thr26Ala) GRCh37: Chr3:181430224 GRCh38: Chr3:181712436	LOC108281177, SOX2, SOX2-OT	T26A	Anophthalmia/microphthalmia-esophageal atresia syndrome, not provided	Uncertain significance (Apr 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 58187080.	NM_003106.4(SOX2):c.67_89dup (p.Gly31fs) GRCh37: Chr3:181430205-181430206 GRCh38: Chr3:181712417-181712418	LOC108281177, SOX2, SOX2-OT	G31fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 28, 2021)	criteria provided, single submitter
Select item 57822681.	NM_003106.4(SOX2):c.424G>C (p.Gly142Arg) GRCh37: Chr3:181430572 GRCh38: Chr3:181712784	SOX2-OT, LOC108281177, SOX2	G142R	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 57769682.	NM_003106.4(SOX2):c.337C>T (p.Arg113Trp) GRCh37: Chr3:181430485 GRCh38: Chr3:181712697	LOC108281177, SOX2, SOX2-OT	R113W	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 56631483.	NM_003106.4(SOX2):c.841_860delinsACCTCGG (p.Ala281fs) GRCh37: Chr3:181430989-181431008 GRCh38: Chr3:181713201-181713220	SOX2, SOX2-OT	A281fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Aug 2, 2021)	criteria provided, single submitter
Select item 56562384.	NM_003106.4(SOX2):c.166C>T (p.Arg56Trp) GRCh37: Chr3:181430314 GRCh38: Chr3:181712526	LOC108281177, SOX2, SOX2-OT	R56W	Anophthalmia/microphthalmia-esophageal atresia syndrome	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 53583785.	NM_003106.4(SOX2):c.397G>A (p.Ala133Thr) GRCh37: Chr3:181430545 GRCh38: Chr3:181712757	LOC108281177, SOX2, SOX2-OT	A133T	Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 53583686.	NM_003106.4(SOX2):c.540C>G (p.Tyr180Ter) GRCh37: Chr3:181430688 GRCh38: Chr3:181712900	LOC108281177, SOX2, SOX2-OT	Y180*	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Jul 13, 2021)	criteria provided, single submitter
Select item 52112787.	NM_003106.4(SOX2):c.70_86del (p.Asn24fs) GRCh37: Chr3:181430210-181430226 GRCh38: Chr3:181712422-181712438	LOC108281177, SOX2, SOX2-OT	N24fs	Inborn genetic diseases	Pathogenic (Jun 14, 2016)	criteria provided, single submitter
Select item 51622088.	NM_003106.4(SOX2):c.243T>G (p.Leu81=) GRCh37: Chr3:181430391 GRCh38: Chr3:181712603	LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome, not specified	Likely benign (Feb 21, 2021)	criteria provided, multiple submitters, no conflicts
Select item 46782389.	NM_003106.4(SOX2):c.45G>A (p.Gln15=) GRCh37: Chr3:181430193 GRCh38: Chr3:181712405	LOC108281177, SOX2, SOX2-OT		not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Likely benign (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 46782290.	NM_003106.4(SOX2):c.244_245del (p.Leu82fs) GRCh37: Chr3:181430390-181430391 GRCh38: Chr3:181712602-181712603	LOC108281177, SOX2, SOX2-OT	L82fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 46782191.	NM_003106.4(SOX2):c.157dup (p.Arg53fs) GRCh37: Chr3:181430302-181430303 GRCh38: Chr3:181712514-181712515	LOC108281177, SOX2, SOX2-OT	R53fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Sep 2, 2021)	criteria provided, single submitter
Select item 46782092.	NC_000003.12:g.(?_181712341)_(181874887_?)del GRCh37: Chr3:181430129-181592675 GRCh38: Chr3:181712341-181874887	LOC108281178, LOC123256955, LOC108281177, SOX2, SOX2-OT		Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Sep 15, 2019)	criteria provided, single submitter
Select item 44579693.	NM_007374.3(SIX6):c.385G>A (p.Glu129Lys) GRCh37: Chr14:60976501 GRCh38: Chr14:60509783	C14orf39, SIX6	E129K	not provided, Anophthalmia-microphthalmia syndrome, Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, Anophthalmia/microphthalmia-esophageal atresia syndrome	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations
Select item 27989694.	NM_003106.4(SOX2):c.480C>G (p.Tyr160Ter) GRCh37: Chr3:181430628 GRCh38: Chr3:181712840	LOC108281177, SOX2, SOX2-OT	Y160*	not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Dec 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 27989595.	NM_003106.4(SOX2):c.59dup (p.Gly21fs) GRCh37: Chr3:181430201-181430202 GRCh38: Chr3:181712413-181712414	LOC108281177, SOX2, SOX2-OT	G21fs	not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Sep 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 19325196.	NM_003106.4(SOX2):c.453G>A (p.Ala151=) GRCh37: Chr3:181430601 GRCh38: Chr3:181712813	LOC108281177, SOX2, SOX2-OT		not provided, not specified, Anophthalmia/microphthalmia-esophageal atresia syndrome	Benign (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16771797.	NM_003106.4(SOX2):c.64G>A (p.Gly22Ser) GRCh37: Chr3:181430212 GRCh38: Chr3:181712424	LOC108281177, SOX2, SOX2-OT		not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Conflicting interpretations of pathogenicity (Aug 19, 2022)	criteria provided, conflicting interpretations
Select item 9410598.	NM_003106.4(SOX2):c.834C>T (p.Leu278=) GRCh37: Chr3:181430982 GRCh38: Chr3:181713194	SOX2, SOX2-OT		not specified, not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome	Benign/Likely benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9410499.	NM_003106.4(SOX2):c.70_89del (p.Asn24fs) GRCh37: Chr3:181430207-181430226 GRCh38: Chr3:181712419-181712438	LOC108281177, SOX2, SOX2-OT	N24fs	not provided, Anophthalmia/microphthalmia-esophageal atresia syndrome, Septo-optic dysplasia sequence	Pathogenic (Jun 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 39805100.	NM_003106.4(SOX2):c.837del (p.Gly280fs) GRCh37: Chr3:181430982 GRCh38: Chr3:181713194	SOX2, SOX2-OT	G280fs	Anophthalmia/microphthalmia-esophageal atresia syndrome	Pathogenic (Jul 1, 2011)	no assertion criteria provided

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