"PreventionGenetics, part of Exact Sciences"[submitter] AND "MYOC"[gen - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168919	NM_000261.2(MYOC):c.1499A>G (p.Lys500Arg)	MYOC (K500R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 403218	NM_000261.2(MYOC):c.1193A>G (p.Lys398Arg)	MYOC (K398R)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 2505291	NM_000261.2(MYOC):c.1110G>A (p.Pro370=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 1810368	NM_000261.2(MYOC):c.906C>T (p.Asp302=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 876939	NM_000261.2(MYOC):c.878C>A (p.Thr293Lys)	MYOC (T293K)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 874154	NM_000261.2(MYOC):c.864C>T (p.Ile288=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 874205	NM_000261.2(MYOC):c.369C>T (p.Thr123=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 193067	NM_000261.2(MYOC):c.366C>T (p.Gly122=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 193066	NM_000261.2(MYOC):c.227G>A (p.Arg76Lys)	MYOC (R76K)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 7958	NM_000261.2(MYOC):c.144G>T (p.Gln48His)	MYOC (Q48H)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 2629237	NM_000261.2(MYOC):c.66del (p.Leu23fs)	MYOC (L23fs)	Deletion (frameshift variant)	MYOC-related condition	GUncertain significance
Select item 876089	NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)	MYOC (G12R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GLikely benign FDA Recognized database