C3661900[trait identifier] AND "Casey Eye Institute Glaucoma Genetics - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 99990	NM_001142459.2(ASB10):c.1024C>T (p.Leu342=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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 99957	NM_001142459.2(ASB10):c.516C>T (p.Ala172=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 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 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 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

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Items: 20