C1859773[trait identifier] AND "Anophthalmia/Microphthalmia Research R - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 986773	NM_003106.4(SOX2):c.402del (p.Gly135fs)	LOC108281177, SOX2 +1 more (G135fs)	Deletion (frameshift variant)	not provided	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 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 986767	NM_003106.4(SOX2):c.582_583delinsTT (p.Met194_Gln195delinsIleTer)	SOX2, SOX2-OT	Indel (nonsense)	Anophthalmia/microphthalmia-esophageal atresia syndrome	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 986766	NM_003106.4(SOX2):c.828del (p.Met276fs)	SOX2-OT, SOX2 (M276fs)	Deletion (frameshift variant)	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 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 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 986771	NM_003106.4(SOX2):c.941del (p.Leu314fs)	SOX2, SOX2-OT (L314fs)	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 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 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 986755	t(3;11)(q27;p11.2)		Translocation	Anophthalmia/microphthalmia-esophageal atresia syndrome	GPathogenic

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Items: 26