10133[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 144993	GRCh38/hg38 10p13(chr10:12333253-13948472)x1	BEND7, BEND7-DT +69 more	Copy number loss	See cases	GLikely pathogenic
Select item 368894	NM_001008211.1(OPTN):c.-454C>T	LOC130003370, OPTN	Single nucleotide variant	Amyotrophic Lateral Sclerosis, Recessive +1 more	GLikely benign
Select item 299200	NM_021980.4(OPTN):c.-232G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299201	NM_021980.4(OPTN):c.-227G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +2 more	GBenign
Select item 877641	NM_021980.4(OPTN):c.-187G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299202	NM_021980.4(OPTN):c.-161T>C	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +2 more	GBenign
Select item 299203	NM_001008212.2(OPTN):c.-274C>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 299204	NM_001008212.2(OPTN):c.-272G>T	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299205	NM_001008212.2(OPTN):c.-255C>G	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GBenign
Select item 299206	NM_001008212.2(OPTN):c.-250C>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 299207	NM_001008212.2(OPTN):c.-215G>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +2 more	GBenign
Select item 879254	NM_001008212.2(OPTN):c.-184C>G	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 879255	NM_001008212.2(OPTN):c.-172G>A	LOC130003370, OPTN	Single nucleotide variant (5 prime UTR variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 299208	NM_001008212.2(OPTN):c.-164+13A>G	LOC130003370, OPTN	Single nucleotide variant (intron variant)	Primary open angle glaucoma +1 more	GBenign/Likely benign
Select item 1188329	NM_001008212.2(OPTN):c.-11-331C>T	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197618	NM_001008212.2(OPTN):c.-11-262T>C	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260673	NM_001008212.2(OPTN):c.-11-208GC[4]	LOC108903148, OPTN	Microsatellite (intron variant)	not provided	GBenign
Select item 1295362	NM_001008212.2(OPTN):c.-11-203T>C	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259327	NM_001008212.2(OPTN):c.-11-201CA[10]	LOC108903148, OPTN	Microsatellite (intron variant)	not provided	GBenign
Select item 1259042	NM_001008212.2(OPTN):c.-11-201CA[9]	LOC108903148, OPTN	Microsatellite (intron variant)	not provided	GBenign
Select item 1188641	NM_001008212.2(OPTN):c.-11-201_-11-200insGCACACAC	LOC108903148, OPTN	Insertion (intron variant)	not provided	GLikely benign
Select item 1201573	NM_001008212.2(OPTN):c.-11-76A>G	OPTN, LOC108903148	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 529764	NC_000010.11:g.(?_13109103)_(13136886_?)del	LOC130003372, OPTN +2 more	Deletion	Glaucoma 1, open angle, E +2 more	GPathogenic
Select item 880441	NM_001008212.2(OPTN):c.-9A>G	LOC108903148, OPTN	Single nucleotide variant (5 prime UTR variant)	Primary open angle glaucoma +1 more	GUncertain significance
Select item 583651	NC_000010.11:g.(?_13109123)_(13183100_?)del	LOC108903148, LOC108903149 +5 more	Deletion	Primary open angle glaucoma +2 more	GPathogenic
Select item 2946379	NM_001008212.2(OPTN):c.2T>A (p.Met1Lys)	LOC108903148, OPTN (M1K)	Single nucleotide variant (missense variant +1 more)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2925458	NM_001008212.2(OPTN):c.7C>T (p.His3Tyr)	LOC108903148, OPTN (H3Y)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 565324	NM_001008212.2(OPTN):c.14C>G (p.Pro5Arg)	LOC108903148, OPTN (P5R)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2421485	NM_001008212.2(OPTN):c.16C>T (p.Leu6Phe)	LOC108903148, OPTN (L6F)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 3204441	NM_001008212.2(OPTN):c.17T>C (p.Leu6Pro)	LOC108903148, OPTN (L6P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 880442	NM_001008212.2(OPTN):c.17T>G (p.Leu6Arg)	LOC108903148, OPTN (L6R)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +1 more	GUncertain significance
Select item 2574894	NM_001008212.2(OPTN):c.21_22delinsGG (p.Ser7_Cys8delinsArgGly)	LOC108903148, OPTN	Indel (missense variant)	not provided	GUncertain significance
Select item 2011696	NM_001008212.2(OPTN):c.38A>T (p.Glu13Val)	LOC108903148, OPTN (E13V)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 447911	NM_001008212.2(OPTN):c.46C>G (p.Pro16Ala)	LOC108903148, OPTN (P16A)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 2150488	NM_001008212.2(OPTN):c.50G>A (p.Ser17Asn)	LOC108903148, OPTN (S17N)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1323386	NM_001008212.2(OPTN):c.76dup (p.His26fs)	LOC108903148, OPTN (H26fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 873264	NM_001008212.2(OPTN):c.76del (p.His26fs)	LOC108903148, OPTN (H26fs)	Deletion (frameshift variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 1963117	NM_001008212.2(OPTN):c.76C>A (p.His26Asn)	LOC108903148, OPTN (H26N)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 1930237	NM_001008212.2(OPTN):c.76C>G (p.His26Asp)	LOC108903148, OPTN (H26D)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 1760672	NM_001008212.2(OPTN):c.77A>C (p.His26Pro)	LOC108903148, OPTN (H26P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756457	NM_001008212.2(OPTN):c.78C>T (p.His26=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 722000	NM_001008212.2(OPTN):c.93C>T (p.Asn31=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2934214	NM_001008212.2(OPTN):c.94C>T (p.Leu32=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 2951223	NM_001008212.2(OPTN):c.97G>C (p.Asp33His)	LOC108903148, OPTN (D33H)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2932676	NM_001008212.2(OPTN):c.101C>T (p.Thr34Met)	LOC108903148, OPTN (T34M)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 96022	NM_001008212.2(OPTN):c.102G>A (p.Thr34=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 2072787	NM_001008212.2(OPTN):c.110C>T (p.Pro37Leu)	LOC108903148, OPTN (P37L)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 3047574	NM_001008212.2(OPTN):c.111G>A (p.Pro37=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 1730728	NM_001008212.2(OPTN):c.113A>G (p.Glu38Gly)	LOC108903148, OPTN (E38G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 96023	NM_001008212.2(OPTN):c.123G>A (p.Leu41=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +5 more	GBenign/Likely benign
Select item 489125	NM_001008212.2(OPTN):c.127C>T (p.Gln43Ter)	LOC108903148, OPTN (Q43*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 12 +4 more	GConflicting classifications of pathogenicity
Select item 703912	NM_001008212.2(OPTN):c.147C>T (p.Thr49=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +3 more	GBenign/Likely benign
Select item 7096	NM_001008212.2(OPTN):c.148G>A (p.Glu50Lys)	OPTN, LOC108903148 (E50K)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E	GPathogenic
Select item 3067688	NM_001008212.2(OPTN):c.154C>T (p.His52Tyr)	LOC108903148, OPTN (H52Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2173403	NM_001008212.2(OPTN):c.156C>T (p.His52=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 576203	NM_001008212.2(OPTN):c.158_161dup (p.Lys55fs)	LOC108903148, OPTN (K55fs)	Duplication (frameshift variant)	Amyotrophic lateral sclerosis type 12 +2 more	GPathogenic
Select item 1975626	NM_001008212.2(OPTN):c.161T>A (p.Leu54Gln)	LOC108903148, OPTN (L54Q)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 788066	NM_001008212.2(OPTN):c.166+10G>A	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1165128	NM_001008212.2(OPTN):c.166+66A>G	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1187013	NM_001008212.2(OPTN):c.166+146C>T	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191512	NM_001008212.2(OPTN):c.166+154A>C	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 7100	NM_001008212.2(OPTN):c.166+349_370-945del	LOC108903148, LOC108903149 +1 more	Deletion (splice acceptor variant +1 more)	Amyotrophic lateral sclerosis type 12	GPathogenic
Select item 1295365	NM_001008212.2(OPTN):c.167-157A>G	OPTN, LOC108903148	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227215	NM_001008212.2(OPTN):c.167-150C>T	LOC108903148, OPTN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1477100	NM_001008212.2(OPTN):c.177G>C (p.Lys59Asn)	LOC108903148, OPTN (K59N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 806437	NM_001008212.2(OPTN):c.192C>T (p.Ala64=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2078827	NM_001008212.2(OPTN):c.194T>C (p.Met65Thr)	LOC108903148, OPTN (M65T)	Single nucleotide variant (missense variant)	Glaucoma 1, open angle, E +2 more	GUncertain significance
Select item 2158305	NM_001008212.2(OPTN):c.200G>A (p.Gly67Glu)	LOC108903148, OPTN (G67E)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2197834	NM_001008212.2(OPTN):c.213G>A (p.Glu71=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Amyotrophic lateral sclerosis type 12 +2 more	GLikely benign
Select item 1088779	NM_001008212.2(OPTN):c.219G>A (p.Ser73=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Glaucoma 1, open angle, E +2 more	GLikely benign
Select item 1718786	NM_001008212.2(OPTN):c.226A>G (p.Thr76Ala)	LOC108903148, OPTN (T76A)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2061646	NM_001008212.2(OPTN):c.235C>T (p.Gln79Ter)	OPTN, LOC108903148 (Q79*)	Single nucleotide variant (nonsense)	Primary open angle glaucoma +2 more	GPathogenic
Select item 1790261	NM_001008212.2(OPTN):c.236A>C (p.Gln79Pro)	LOC108903148, OPTN (Q79P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1344510	NM_001008212.2(OPTN):c.236A>G (p.Gln79Arg)	LOC108903148, OPTN (Q79R)	Single nucleotide variant (missense variant)	Frontotemporal dementia	GLikely pathogenic
Select item 2929988	NM_001008212.2(OPTN):c.241G>T (p.Glu81Ter)	LOC108903148, OPTN (E81*)	Single nucleotide variant (nonsense)	Primary open angle glaucoma +2 more	GPathogenic
Select item 299209	NM_001008212.2(OPTN):c.247C>T (p.Arg83Cys)	LOC108903148, OPTN (R83C)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1792048	NM_001008212.2(OPTN):c.248G>A (p.Arg83His)	LOC108903148, OPTN (R83H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1959773	NM_001008212.2(OPTN):c.254T>G (p.Phe85Cys)	LOC108903148, OPTN (F85C)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 12 +2 more	GUncertain significance
Select item 788091	NM_001008212.2(OPTN):c.261G>A (p.Glu87=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	Primary open angle glaucoma +2 more	GLikely benign
Select item 1196529	NM_001008212.2(OPTN):c.263T>C (p.Ile88Thr)	LOC108903148, OPTN (I88T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 3060368	NM_001008212.2(OPTN):c.267G>A (p.Gln89=)	LOC108903148, OPTN	Single nucleotide variant (synonymous variant)	OPTN-related disorder	GLikely benign
Select item 523078	NM_001008212.2(OPTN):c.275A>T (p.Glu92Val)	LOC108903148, OPTN (E92V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GUncertain significance
Select item 266059	NM_001008212.2(OPTN):c.280A>C (p.Lys94Gln)	OPTN, LOC108903148 (K94Q)	Single nucleotide variant (missense variant)	Motor neuron disease	GLikely pathogenic
Select item 969108	NM_001008212.2(OPTN):c.287G>A (p.Arg96His)	LOC108903148, OPTN (R96H)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 7099	NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)	LOC108903148, OPTN (M98K)	Single nucleotide variant (missense variant)	Glaucoma, normal tension, susceptibility to +5 more	GBenign/Likely benign
Select item 1798158	NM_001008212.2(OPTN):c.295G>T (p.Ala99Ser)	LOC108903148, OPTN (A99S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2136844	NM_001008212.2(OPTN):c.309G>C (p.Glu103Asp)	LOC108903148, OPTN (E103D)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2945970	NM_001008212.2(OPTN):c.352T>C (p.Ser118Pro)	LOC108903148, OPTN (S118P)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 1732969	NM_001008212.2(OPTN):c.358A>G (p.Arg120Gly)	LOC108903148, OPTN (R120G)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +3 more	GUncertain significance
Select item 878705	NM_001008212.2(OPTN):c.359G>A (p.Arg120Lys)	LOC108903148, OPTN (R120K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2952011	NM_001008212.2(OPTN):c.368A>C (p.Glu123Ala)	LOC108903148, OPTN (E123A)	Single nucleotide variant (missense variant)	Primary open angle glaucoma +2 more	GUncertain significance
Select item 2086175	NM_001008212.2(OPTN):c.369+2T>C	LOC108903148, OPTN	Single nucleotide variant (splice donor variant)	Primary open angle glaucoma +2 more	GLikely pathogenic

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