ASB10[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1221472	NM_001142459.2(ASB10):c.*8T>C	ASB10	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1297556	NM_001142459.2(ASB10):c.1386T>G (p.Phe462Leu)	ASB10 (F424L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1233189	NM_001142459.2(ASB10):c.1357C>T (p.Arg453Cys)	ASB10 (R415C +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3130078	NM_001142459.2(ASB10):c.1352C>T (p.Pro451Leu)	ASB10 (P413L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1945680	NM_001142459.2(ASB10):c.1319G>T (p.Ser440Ile)	ASB10 (S402I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1661042	NM_001142459.2(ASB10):c.1306C>A (p.His436Asn)	ASB10 (H398N +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2193163	NM_001142459.2(ASB10):c.1300C>T (p.Arg434Cys)	ASB10 (R396C +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 2614790	NM_001142459.2(ASB10):c.1265C>A (p.Pro422His)	ASB10 (P384H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1905788	NM_001142459.2(ASB10):c.1265C>G (p.Pro422Arg)	ASB10 (P407R +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1357422	NM_001142459.2(ASB10):c.1246T>C (p.Phe416Leu)	ASB10 (F401L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317501	NM_001142459.2(ASB10):c.1218+84G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1244215	NM_001142459.2(ASB10):c.1218+42T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317556	NM_001142459.2(ASB10):c.1218+26G>C	ASB10	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1234767	NM_001142459.2(ASB10):c.1204C>A (p.Pro402Thr)	ASB10 (P387T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3039317	NM_001142459.2(ASB10):c.1197G>T (p.Leu399=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	ASB10-related disorder	GLikely benign
Select item 3130076	NM_001142459.2(ASB10):c.1189G>A (p.Val397Ile)	ASB10 (V397I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354499	NM_001142459.2(ASB10):c.1168G>A (p.Val390Met)	ASB10 (V390M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3020811	NM_001142459.2(ASB10):c.1165_1166del (p.Val389fs)	ASB10 (V389fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2760142	NM_001142459.2(ASB10):c.1155C>T (p.Asn385=)	ASB10	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3130075	NM_001142459.2(ASB10):c.1140C>G (p.Ile380Met)	ASB10 (I365M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293021	NM_001142459.2(ASB10):c.1138A>T (p.Ile380Phe)	ASB10 (I365F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 728668	NM_001142459.2(ASB10):c.1132C>T (p.Arg378Trp)	ASB10 (R378W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 677160	NM_001142459.2(ASB10):c.1114C>T (p.Arg372Cys)	ASB10 (R372C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1264027	NM_001142459.2(ASB10):c.1104+252T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296559	NM_001142459.2(ASB10):c.1104+220A>G	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1260788	NM_001142459.2(ASB10):c.1104+144C>T	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
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 2411549	NM_001142459.2(ASB10):c.1091G>T (p.Gly364Val)	ASB10 (G349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1228005	NM_001142459.2(ASB10):c.1075G>A (p.Val359Ile)	ASB10 (V344I +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2378789	NM_001142459.2(ASB10):c.1072G>A (p.Ala358Thr)	ASB10 (A343T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1360949	NM_001142459.2(ASB10):c.1036C>T (p.Pro346Ser)	ASB10 (P346S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2958862	NM_001142459.2(ASB10):c.1029C>T (p.Ala343=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 99990	NM_001142459.2(ASB10):c.1024C>T (p.Leu342=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2555043	NM_001142459.2(ASB10):c.1008G>C (p.Gln336His)	ASB10 (Q336H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2378023	NM_001142459.2(ASB10):c.928G>A (p.Val310Met)	ASB10 (V310M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3057865	NM_001142459.2(ASB10):c.927C>T (p.Val309=)	ASB10	Single nucleotide variant (synonymous variant)	ASB10-related disorder	GLikely benign
Select item 2595795	NM_001142459.2(ASB10):c.911G>A (p.Arg304His)	ASB10 (R304H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2247428	NM_001142459.2(ASB10):c.907C>T (p.Arg303Cys)	ASB10 (R288C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 722946	NM_001142459.2(ASB10):c.886C>T (p.Arg296Ter)	ASB10 (R296* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely benign
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 1447085	NM_001142459.2(ASB10):c.872A>G (p.Asp291Gly)	ASB10 (D276G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667623	NM_001142459.2(ASB10):c.870G>C (p.Ala290=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130087	NM_001142459.2(ASB10):c.869C>T (p.Ala290Val)	ASB10 (A275V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334199	NM_001142459.2(ASB10):c.859G>A (p.Ala287Thr)	ASB10 (A287T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534156	NM_001142459.2(ASB10):c.856G>A (p.Asp286Asn)	ASB10 (D271N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130086	NM_001142459.2(ASB10):c.826C>A (p.Leu276Met)	ASB10 (L276M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 677216	NM_001142459.2(ASB10):c.798C>T (p.Ala266=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2168421	NM_001142459.2(ASB10):c.738C>T (p.Ala246=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 99986	NM_001142459.2(ASB10):c.714G>A (p.Gly238=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 783008	NM_001142459.2(ASB10):c.709C>G (p.Arg237Gly)	ASB10 (R222G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
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)	not provided	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 1296961	NM_001142459.2(ASB10):c.585-4A>G	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320588	NM_001142459.2(ASB10):c.585-158_585-157del	ASB10	Deletion (intron variant)	not provided	GLikely benign
Select item 1273912	NM_001142459.2(ASB10):c.585-157del	ASB10	Deletion (intron variant)	not provided	GBenign
Select item 1179992	NM_001142459.2(ASB10):c.585-258C>T	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1261447	NM_001142459.2(ASB10):c.585-300A>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265221	NM_001142459.2(ASB10):c.585-315G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264762	NM_001142459.2(ASB10):c.584+258T>C	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226151	NM_001142459.2(ASB10):c.584+253C>T	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248058	NM_001142459.2(ASB10):c.584+192G>A	ASB10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3130085	NM_001142459.2(ASB10):c.574G>A (p.Gly192Ser)	ASB10 (G177S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2888094	NM_001142459.2(ASB10):c.571C>A (p.Pro191Thr)	ASB10 (P176T +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2884295	NM_001142459.2(ASB10):c.570del (p.Pro191fs)	ASB10 (P176fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
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 3130084	NM_001142459.2(ASB10):c.546A>T (p.Lys182Asn)	ASB10 (K167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3130083	NM_001142459.2(ASB10):c.529G>A (p.Ala177Thr)	ASB10 (A162T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3130082	NM_001142459.2(ASB10):c.517G>A (p.Asp173Asn)	ASB10 (D158N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99957	NM_001142459.2(ASB10):c.516C>T (p.Ala172=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3130081	NM_001142459.2(ASB10):c.515C>G (p.Ala172Gly)	ASB10 (A157G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2373381	NM_001142459.2(ASB10):c.514G>A (p.Ala172Thr)	ASB10 (A157T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303098	NM_001142459.2(ASB10):c.512G>A (p.Gly171Glu)	ASB10 (G156E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3317199	NM_001142459.2(ASB10):c.511G>A (p.Gly171Arg)	ASB10 (G156R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2260738	NM_001142459.2(ASB10):c.478C>T (p.His160Tyr)	ASB10 (H160Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2512105	NM_001142459.2(ASB10):c.460G>A (p.Glu154Lys)	ASB10 (E139K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3017846	NM_001142459.2(ASB10):c.451G>A (p.Ala151Thr)	ASB10 (A136T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317780	NM_001142459.2(ASB10):c.450C>T (p.Thr150=)	ASB10	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign

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