ClinVar (all) for Orgtrack (Select 500319) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 99991	NM_001142459.2(ASB10):c.194G>A (p.Gly65Glu)	ASB10 (G65E)	Single nucleotide variant (missense variant +1 more)	not provided	Gnot provided
Select item 99990	NM_001142459.2(ASB10):c.1024C>T (p.Leu342=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 99964	NM_001142459.2(ASB10):c.737C>A (p.Ala246Asp)	ASB10 (A231D +1 more)	Single nucleotide variant (missense variant)	not specified	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 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
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 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 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 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 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 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 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 99947	NM_001142459.2(ASB10):c.1078C>T (p.Arg360Cys)	ASB10 (R345C +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
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 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 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 50953	NM_001142459.2(ASB10):c.619G>C (p.Val207Leu)	ASB10 (V192L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely 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 50951	NM_001142459.2(ASB10):c.810C>T (p.Thr270=)	ASB10	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, F	GPathogenic

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Items: 52