Related gene-specific medical variations for Gene (Select 136371) - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250364	NM_080871.4(ASB10):c.152A>T (p.Gln51Leu)	ASB10 (Q51L)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, F	GLikely benign
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 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 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 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 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 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 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 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 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 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 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

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Links from Gene

Items: 30