C0017601[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 293702	NM_000261.2(MYOC):c.*426C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293703	NM_000261.2(MYOC):c.*331A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 874097	NM_000261.2(MYOC):c.*273G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma +1 more	GUncertain significance
Select item 293704	NM_000261.2(MYOC):c.*241A>G	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293705	NM_000261.2(MYOC):c.*188C>T	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 293706	NM_000261.2(MYOC):c.*182C>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 875031	NM_000261.2(MYOC):c.*73G>C	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GBenign
Select item 293707	NM_000261.2(MYOC):c.*71G>A	MYOC	Single nucleotide variant (3 prime UTR variant)	Glaucoma 1, open angle, A +1 more	GUncertain significance
Select item 875032	NM_000261.2(MYOC):c.1408C>T (p.Arg470Cys)	MYOC (R470C)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875033	NM_000261.2(MYOC):c.1345G>A (p.Val449Ile)	MYOC (V449I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875954	NM_000261.2(MYOC):c.1272G>C (p.Gln424His)	MYOC (Q424H)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance 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 293708	NM_000261.2(MYOC):c.1188G>A (p.Glu396=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GBenign FDA Recognized database
Select item 875955	NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)	MYOC (E352K)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GBenign FDA Recognized database
Select item 875956	NM_000261.2(MYOC):c.1053C>T (p.Thr351=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 293709	NM_000261.2(MYOC):c.1041T>C (p.Tyr347=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293710	NM_000261.2(MYOC):c.992C>T (p.Ser331Leu)	MYOC (S331L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293711	NM_000261.2(MYOC):c.975G>A (p.Thr325=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 293712	NM_000261.2(MYOC):c.871G>A (p.Val291Ile)	MYOC (V291I)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293713	NM_000261.2(MYOC):c.865G>A (p.Asp289Asn)	MYOC (D289N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance 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 196241	NM_000261.2(MYOC):c.855G>T (p.Thr285=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 875083	NM_000261.2(MYOC):c.801T>C (p.Tyr267=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 293714	NM_000261.2(MYOC):c.728C>A (p.Thr243Asn)	MYOC (T243N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 875084	NM_000261.2(MYOC):c.652G>A (p.Glu218Lys)	MYOC (E218K)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293715	NM_000261.2(MYOC):c.648G>A (p.Lys216=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 876020	NM_000261.2(MYOC):c.624C>G (p.Asp208Glu)	MYOC (D208E)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GLikely benign FDA Recognized database
Select item 876021	NM_000261.2(MYOC):c.612G>A (p.Thr204=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 728934	NM_000261.2(MYOC):c.612G>T (p.Thr204=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GBenign FDA Recognized database
Select item 876022	NM_000261.2(MYOC):c.611C>T (p.Thr204Met)	MYOC (T204M)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GUncertain significance FDA Recognized database
Select item 876999	NM_000261.2(MYOC):c.600A>G (p.Arg200=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 877000	NM_000261.2(MYOC):c.573T>A (p.Thr191=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293716	NM_000261.2(MYOC):c.568G>T (p.Asp190Tyr)	MYOC (D190Y)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293717	NM_000261.2(MYOC):c.477A>G (p.Leu159=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
Select item 874204	NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)	MYOC (R158Q)	Single nucleotide variant (missense variant)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 293718	NM_000261.2(MYOC):c.440G>A (p.Arg147Gln)	MYOC (R147Q)	Single nucleotide variant (missense variant)	Open-angle glaucoma	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 293719	NM_000261.2(MYOC):c.335A>G (p.Glu112Gly)	MYOC (E112G)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293720	NM_000261.2(MYOC):c.304T>A (p.Leu102Met)	MYOC (L102M)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 293721	NM_000261.2(MYOC):c.239C>A (p.Thr80Asn)	MYOC (T80N)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance 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 293722	NM_000261.2(MYOC):c.224A>G (p.Gln75Arg)	MYOC (Q75R)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database
Select item 7955	NM_000261.2(MYOC):c.136C>T (p.Arg46Ter)	MYOC (R46*)	Single nucleotide variant (nonsense)	Glaucoma of childhood	GLikely benign FDA Recognized database
Select item 293723	NM_000261.2(MYOC):c.114G>A (p.Arg38=)	MYOC	Single nucleotide variant (synonymous variant)	Open-angle glaucoma	GLikely benign FDA Recognized database
Select item 293724	NM_000261.2(MYOC):c.39T>G (p.Pro13=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GBenign FDA Recognized database
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
Select item 877041	NM_000261.2(MYOC):c.31T>C (p.Phe11Leu)	MYOC (F11L)	Single nucleotide variant (missense variant)	Open-angle glaucoma	GUncertain significance FDA Recognized database

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 47