C1863926[trait identifier] AND "Casey Eye Institute Glaucoma Genetics - ClinVar

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

Search results

Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99952	NM_001142459.2(ASB10):c.1318A>G (p.Ser440Gly)	ASB10 (S425G +2 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99951	NM_001142459.2(ASB10):c.1272G>A (p.Ser424=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 99948	NM_001142459.2(ASB10):c.1096C>T (p.Leu366Phe)	ASB10 (L351F +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99980	NM_001142459.2(ASB10):c.1092G>T (p.Gly364=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99979	NM_001142459.2(ASB10):c.1079G>A (p.Arg360His)	ASB10 (R345H +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99947	NM_001142459.2(ASB10):c.1078C>T (p.Arg360Cys)	ASB10 (R345C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99978	NM_001142459.2(ASB10):c.1066C>T (p.His356Tyr)	ASB10 (H341Y +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99946	NM_001142459.2(ASB10):c.1046T>C (p.Val349Ala)	ASB10 (V334A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99990	NM_001142459.2(ASB10):c.1024C>T (p.Leu342=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 99969	NM_001142459.2(ASB10):c.996C>G (p.His332Gln)	ASB10 (H317Q +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99967	NM_001142459.2(ASB10):c.986C>T (p.Thr329Met)	ASB10 (T314M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 99989	NM_001142459.2(ASB10):c.958G>A (p.Ala320Thr)	ASB10 (A305T +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99966	NM_001142459.2(ASB10):c.910C>T (p.Arg304Cys)	ASB10 (R289C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99965	NM_001142459.2(ASB10):c.908G>A (p.Arg303His)	ASB10 (R288H +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99988	NM_001142459.2(ASB10):c.884A>T (p.Gln295Leu)	ASB10 (Q280L +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99987	NM_001142459.2(ASB10):c.815G>A (p.Arg272His)	ASB10 (R257H +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 50951	NM_001142459.2(ASB10):c.810C>T (p.Thr270=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	GPathogenic
Select item 99964	NM_001142459.2(ASB10):c.737C>A (p.Ala246Asp)	ASB10 (A231D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 99963	NM_001142459.2(ASB10):c.731G>A (p.Arg244His)	ASB10 (R229H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99986	NM_001142459.2(ASB10):c.714G>A (p.Gly238=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 99985	NM_001142459.2(ASB10):c.628C>A (p.Arg210=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 50953	NM_001142459.2(ASB10):c.619G>C (p.Val207Leu)	ASB10 (V192L +1 more)	Single nucleotide variant (missense variant)	ASB10-related condition +1 more	GBenign/Likely benign
Select item 99984	NM_001142459.2(ASB10):c.590C>T (p.Ala197Val)	ASB10 (A182V +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99959	NM_001142459.2(ASB10):c.565C>T (p.Arg189Trp)	ASB10 (R174W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 50952	NM_001142459.2(ASB10):c.564C>A (p.Cys188Ter)	ASB10 (C173* +1 more)	Single nucleotide variant (nonsense)	Glaucoma 1, open angle, F	GPathogenic
Select item 99983	NM_001142459.2(ASB10):c.547C>T (p.Arg183Cys)	ASB10 (R168C +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99958	NM_001142459.2(ASB10):c.524A>C (p.Asn175Thr)	ASB10 (N160T +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99957	NM_001142459.2(ASB10):c.516C>T (p.Ala172=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 99982	NM_001142459.2(ASB10):c.515C>T (p.Ala172Val)	ASB10 (A157V +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99956	NM_001142459.2(ASB10):c.487T>A (p.Cys163Ser)	ASB10 (C148S +1 more)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99955	NM_001142459.2(ASB10):c.470C>T (p.Ala157Val)	ASB10 (A142V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99977	NM_001142459.2(ASB10):c.291T>A (p.Asp97Glu)	ASB10 (D97E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 99976	NM_001142459.2(ASB10):c.281G>A (p.Arg94Gln)	ASB10 (R94Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 99945	NM_001142459.2(ASB10):c.271G>T (p.Asp91Tyr)	ASB10 (D91Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 99975	NM_001142459.2(ASB10):c.263A>T (p.Asp88Val)	ASB10 (D88V)	Single nucleotide variant (missense variant +1 more)	Glaucoma 1, open angle, F	Gnot provided
Select item 99974	NM_001142459.2(ASB10):c.225G>A (p.Ala75=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	Glaucoma 1, open angle, F	Gnot provided
Select item 99944	NM_001142459.2(ASB10):c.224C>A (p.Ala75Glu)	ASB10 (A75E)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 50954	NM_001142459.2(ASB10):c.215G>A (p.Arg72His)	ASB10 (R72H)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 99973	NM_001142459.2(ASB10):c.204C>G (p.Gly68=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	Glaucoma 1, open angle, F	Gnot provided
Select item 99972	NM_001142459.2(ASB10):c.199G>A (p.Val67Met)	ASB10 (V67M)	Single nucleotide variant (missense variant +1 more)	Glaucoma 1, open angle, F	Gnot provided
Select item 99971	NM_001142459.2(ASB10):c.143C>G (p.Thr48Ser)	ASB10 (T48S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 99970	NM_001142459.2(ASB10):c.105T>G (p.Ser35=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	Glaucoma 1, open angle, F	Gnot provided
Select item 99981	NM_080871.4(ASB10):c.204G>A (p.Pro68=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99954	NM_080871.4(ASB10):c.204G>T (p.Pro68=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99953	NM_080871.4(ASB10):c.176T>C (p.Leu59Pro)	ASB10 (L59P)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99950	NM_080871.4(ASB10):c.116G>A (p.Arg39Gln)	ASB10 (R39Q)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99949	NM_080871.4(ASB10):c.115C>T (p.Arg39Trp)	ASB10 (R39W)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99968	NM_080871.4(ASB10):c.94C>A (p.Arg32Ser)	ASB10 (R32S)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99962	NM_080871.4(ASB10):c.60C>T (p.Ser20=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	Gnot provided
Select item 99961	NM_080871.4(ASB10):c.56C>G (p.Pro19Arg)	ASB10 (P19R)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 99960	NM_080871.4(ASB10):c.55C>T (p.Pro19Ser)	ASB10 (P19S)	Single nucleotide variant (missense variant)	not provided	GLikely benign

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: 51