ClinVar for MedGen (Select 351204) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244002	NC_000014.8:g.(?_74703158)_(74706277_?)del	VSX2	Deletion	Isolated microphthalmia 2	GPathogenic
Select item 3244001	NC_000014.8:g.(?_74707865)_(74707989_?)del	VSX2	Deletion	Isolated microphthalmia 2	GPathogenic
Select item 3244000	NC_000014.8:g.(?_74706265)_(74727622_?)del	VSX2	Deletion	Isolated microphthalmia 2	GPathogenic
Select item 3023106	NM_182894.3(VSX2):c.24G>T (p.Ala8=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 3019002	NM_182894.3(VSX2):c.456-11G>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GBenign
Select item 3018154	NM_182894.3(VSX2):c.579+14G>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 3018153	NM_182894.3(VSX2):c.579+13A>C	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 3018152	NM_182894.3(VSX2):c.579+12G>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 3014872	NM_182894.3(VSX2):c.456-14C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 3013564	NM_182894.3(VSX2):c.690C>T (p.Ile230=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 3010908	NM_182894.3(VSX2):c.177G>T (p.Gly59=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 3009166	NM_182894.3(VSX2):c.456-16G>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 3005338	NM_182894.3(VSX2):c.370+18G>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 3000990	NM_182894.3(VSX2):c.249dup (p.Leu84fs)	VSX2 (L84fs)	Duplication (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2996982	NM_182894.3(VSX2):c.579+17C>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2988323	NM_182894.3(VSX2):c.201G>A (p.Val67=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2982750	NM_182894.3(VSX2):c.702G>A (p.Glu234=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2980289	NM_182894.3(VSX2):c.972G>A (p.Val324=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2979108	NM_182894.3(VSX2):c.438del (p.Lys147fs)	VSX2 (K147fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2973649	NM_182894.3(VSX2):c.371-10C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2961687	NM_182894.3(VSX2):c.147G>A (p.Pro49=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2960502	NM_182894.3(VSX2):c.231G>A (p.Gly77=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2915632	NM_182894.3(VSX2):c.867C>A (p.Gly289=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2913928	NM_182894.3(VSX2):c.371-13G>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2913213	NM_182894.3(VSX2):c.579+11T>C	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2912993	NM_182894.3(VSX2):c.189G>A (p.Ala63=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2909749	NM_182894.3(VSX2):c.444G>A (p.Lys148=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2905602	NM_182894.3(VSX2):c.760+15C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2903716	NM_182894.3(VSX2):c.627C>T (p.Cys209=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2903565	NM_182894.3(VSX2):c.455+12G>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2897512	NM_182894.3(VSX2):c.939T>G (p.Ala313=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2897511	NM_182894.3(VSX2):c.930G>A (p.Arg310=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2897510	NM_182894.3(VSX2):c.255T>C (p.Pro85=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2897509	NM_182894.3(VSX2):c.96C>T (p.Phe32=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2893009	NM_182894.3(VSX2):c.636G>A (p.Arg212=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2892163	NM_182894.3(VSX2):c.249G>T (p.Gly83=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2890735	NM_182894.3(VSX2):c.370+20G>C	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2889800	NM_182894.3(VSX2):c.579+20C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2888710	NM_182894.3(VSX2):c.642T>C (p.Ser214=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2888709	NM_182894.3(VSX2):c.610A>C (p.Arg204=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2884411	NM_182894.3(VSX2):c.371-18C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2855344	NM_182894.3(VSX2):c.195C>T (p.Arg65=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2851702	NM_182894.3(VSX2):c.198A>T (p.Ser66=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2849440	NM_182894.3(VSX2):c.455+7C>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2843575	NM_182894.3(VSX2):c.192G>C (p.Ala64=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2843544	NM_182894.3(VSX2):c.248_249del (p.Gly83fs)	VSX2 (G83fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2834768	NM_182894.3(VSX2):c.761-13C>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2833942	NM_182894.3(VSX2):c.990G>A (p.Leu330=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2821252	NM_182894.3(VSX2):c.996G>C (p.Arg332=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2817624	NM_182894.3(VSX2):c.969T>C (p.Thr323=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2817271	NM_182894.3(VSX2):c.961C>T (p.Leu321=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2816738	NM_182894.3(VSX2):c.455+1G>A	VSX2	Single nucleotide variant (splice donor variant)	Isolated microphthalmia 2	GLikely pathogenic
Select item 2813462	NM_182894.3(VSX2):c.4del (p.Thr2fs)	VSX2 (T2fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2808081	NM_182894.3(VSX2):c.390C>T (p.Ser130=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2807775	NM_182894.3(VSX2):c.579+14G>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2806912	NM_182894.3(VSX2):c.370+13A>G	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2806041	NM_182894.3(VSX2):c.198A>G (p.Ser66=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2802433	NM_182894.3(VSX2):c.414T>C (p.Ser138=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2800934	NM_182894.3(VSX2):c.555G>T (p.Thr185=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2771287	NM_182894.3(VSX2):c.370+17dup	VSX2	Duplication (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2768859	NM_182894.3(VSX2):c.837G>A (p.Lys279=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2765453	NM_182894.3(VSX2):c.579+17C>G	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2764044	NM_182894.3(VSX2):c.634del (p.Arg212fs)	VSX2 (R212fs)	Deletion (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2762687	NM_182894.3(VSX2):c.975T>G (p.Ser325=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2762635	NM_182894.3(VSX2):c.760+12C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2760951	NM_182894.3(VSX2):c.384T>A (p.Val128=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2758164	NM_182894.3(VSX2):c.166dup (p.Leu56fs)	VSX2 (L56fs)	Duplication (frameshift variant)	Isolated microphthalmia 2	GPathogenic
Select item 2753926	NM_182894.3(VSX2):c.579+10C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2748020	NM_182894.3(VSX2):c.756A>G (p.Leu252=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2747738	NM_182894.3(VSX2):c.447G>T (p.Arg149=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2745303	NM_182894.3(VSX2):c.580-12G>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2745225	NM_182894.3(VSX2):c.760+18C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2743767	NM_182894.3(VSX2):c.371-19C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2740665	NM_182894.3(VSX2):c.370+15G>A	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2738272	NM_182894.3(VSX2):c.231G>C (p.Gly77=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2738058	NM_182894.3(VSX2):c.370+9G>C	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2732557	NM_182894.3(VSX2):c.371-12C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2723381	NM_182894.3(VSX2):c.761-11A>C	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2711480	NM_182894.3(VSX2):c.829C>T (p.Leu277=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2711098	NM_182894.3(VSX2):c.455+15_455+18del	VSX2	Deletion (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2703702	NM_182894.3(VSX2):c.342G>A (p.Pro114=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2703445	NM_182894.3(VSX2):c.816G>C (p.Gly272=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2699622	NM_182894.3(VSX2):c.960G>A (p.Val320=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2427598	NC_000014.8:g.(?_74726295)_(74727632_?)del	VSX2	Deletion	Isolated microphthalmia 2	GPathogenic
Select item 2202155	NM_182894.3(VSX2):c.456-18C>T	VSX2	Single nucleotide variant (intron variant)	Isolated microphthalmia 2	GLikely benign
Select item 2196314	NM_182894.3(VSX2):c.617G>A (p.Arg206Gln)	VSX2 (R206Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2195441	NM_182894.3(VSX2):c.523G>A (p.Val175Ile)	VSX2 (V175I)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2	GUncertain significance
Select item 2188245	NM_182894.3(VSX2):c.135G>C (p.Pro45=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2188119	NM_182894.3(VSX2):c.885C>T (p.Ala295=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2135887	NM_182894.3(VSX2):c.696G>A (p.Leu232=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2133565	NM_182894.3(VSX2):c.159C>T (p.Leu53=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2132554	NM_182894.3(VSX2):c.455+11del	VSX2	Deletion (intron variant)	Isolated microphthalmia 2	GBenign
Select item 2123300	NM_182894.3(VSX2):c.580-2A>C	VSX2	Single nucleotide variant (splice acceptor variant)	Isolated microphthalmia 2	GLikely pathogenic
Select item 2116405	NM_182894.3(VSX2):c.240G>A (p.Gly80=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2112771	NM_182894.3(VSX2):c.667G>C (p.Gly223Arg)	VSX2 (G223R)	Single nucleotide variant (missense variant)	Isolated microphthalmia 2	GPathogenic
Select item 2108138	NM_182894.3(VSX2):c.669G>T (p.Gly223=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2108118	NM_182894.3(VSX2):c.960G>T (p.Val320=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2103527	NM_182894.3(VSX2):c.582C>T (p.Val194=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2101358	NM_182894.3(VSX2):c.148C>A (p.Arg50=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign
Select item 2059230	NM_182894.3(VSX2):c.240G>T (p.Gly80=)	VSX2	Single nucleotide variant (synonymous variant)	Isolated microphthalmia 2	GLikely benign

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