ClinVar for MedGen (Select 137902) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236000	NM_130837.3(OPA1):c.2714dup (p.Asn906fs)	OPA1 (N727fs +9 more)	Duplication (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 3233374	NM_130837.3(OPA1):c.1870+1G>C	LOC126806913, OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 2775430	NM_130837.3(OPA1):c.1309dup (p.Ile437fs)	OPA1 (I383fs +9 more)	Duplication (frameshift variant)	Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy +1 more	GLikely pathogenic
Select item 2687786	NM_130837.3(OPA1):c.2605del (p.Glu868_Ile869insTer)	OPA1	Deletion (nonsense +1 more)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 2664756	NM_130837.3(OPA1):c.1348G>A (p.Val450Met)	OPA1 (V271M +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2627600	NM_130837.3(OPA1):c.2778+1G>A	OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2580342	GRCh37/hg19 3q29(chr3:193343827-194599635)x1	TMEM44, ATP13A3 +7 more	Copy number loss	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 2571197	NM_130837.3(OPA1):c.2869G>T (p.Glu957Ter)	OPA1 (E778* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form +1 more	GPathogenic
Select item 2203487	NM_130837.3(OPA1):c.2819G>A (p.Arg940His)	OPA1 (R761H +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GUncertain significance
Select item 2203477	NM_130837.3(OPA1):c.1099C>T (p.Arg367Ter)	OPA1 (R276* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form +1 more	GPathogenic
Select item 1895445	NM_130837.3(OPA1):c.2806del (p.Trp936fs)	OPA1 (W758fs +9 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1804142	NM_130837.3(OPA1):c.1377+6T>A	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 1803214	NM_130837.3(OPA1):c.1111A>G (p.Arg371Gly)	OPA1 (R192G +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 1710214	NM_130837.3(OPA1):c.2750dup (p.Tyr917Ter)	OPA1 (Y738* +9 more)	Duplication (nonsense)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1710122	NM_130837.3(OPA1):c.1889A>T (p.Glu630Val)	OPA1 (E451V +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 1709891	NM_130837.3(OPA1):c.70dup (p.Ile24fs)	OPA1 (I24fs)	Duplication (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1709813	NM_130837.3(OPA1):c.114_115insG (p.Ser39fs)	OPA1 (S39fs)	Insertion (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1709565	NM_130837.3(OPA1):c.437A>G (p.Tyr146Cys)	OPA1 (Y146C +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GUncertain significance
Select item 1709521	NM_130837.3(OPA1):c.880G>T (p.Glu294Ter)	OPA1 (E115* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1709520	NM_130837.3(OPA1):c.1073G>A (p.Ser358Asn)	OPA1 (S179N +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 1709210	NM_130837.3(OPA1):c.2995G>T (p.Glu999Ter)	OPA1 (E820* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 1709100	NM_130837.3(OPA1):c.1852C>T (p.Gln618Ter)	LOC126806913, OPA1 (Q439* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1708159	NM_130837.3(OPA1):c.1606_1608+10delinsCAGTCCACAAATCT	OPA1	Indel (splice donor variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1679213	NM_130837.3(OPA1):c.1377+1G>T	OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1675202	NM_130837.3(OPA1):c.2686del (p.Tyr896fs)	OPA1 (Y717fs +9 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1526127	NM_130837.3(OPA1):c.357del (p.Phe119fs)	OPA1 (F119fs)	Deletion (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1446789	NM_130837.3(OPA1):c.301C>T (p.Arg101Cys)	OPA1 (R101C)	Single nucleotide variant (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form +1 more	GConflicting classifications of pathogenicity
Select item 1213866	NM_130837.3(OPA1):c.2293A>T (p.Lys765Ter)	OPA1 (K586* +9 more)	Single nucleotide variant (nonsense)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 1065345	NM_130837.3(OPA1):c.2142del (p.Gln714fs)	OPA1 (Q535fs +9 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1048151	NM_130837.3(OPA1):c.2987A>C (p.Lys996Thr)	OPA1 (K817T +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1048150	NM_130837.3(OPA1):c.1890_1891del (p.Glu630fs)	OPA1 (E451fs +9 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 1027447	NM_130837.3(OPA1):c.885C>G (p.Asn295Lys)	OPA1 (N116K +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 997031	NM_130837.3(OPA1):c.164dup (p.Leu55fs)	OPA1 (L55fs)	Duplication (5 prime UTR variant +1 more)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 986077	NM_130837.3(OPA1):c.2263_2268del (p.Leu755_Lys756del)	OPA1	Deletion (inframe_deletion)	not provided +3 more	GUncertain significance
Select item 977801	NM_130837.3(OPA1):c.1149+3A>T	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 976012	NM_130837.3(OPA1):c.902T>G (p.Leu301Ter)	OPA1 (L122* +9 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 975946	NM_130837.3(OPA1):c.1734dup (p.Gln579fs)	OPA1 (Q400fs +9 more)	Duplication (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 973235	NM_130837.3(OPA1):c.2287del (p.Ser763fs)	OPA1 (S584fs +9 more)	Deletion (frameshift variant)	OPA1-related disorder +4 more	GPathogenic
Select item 916192	NM_130837.3(OPA1):c.1935+1G>C	OPA1	Single nucleotide variant (splice donor variant)	Autosomal dominant optic atrophy classic form +1 more	GPathogenic/Likely pathogenic
Select item 903390	NM_130837.3(OPA1):c.*614A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903389	NM_130837.3(OPA1):c.*427A>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903388	NM_130837.3(OPA1):c.*403T>C	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903387	NM_130837.3(OPA1):c.*341G>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903317	NM_130837.3(OPA1):c.1591G>A (p.Val531Ile)	OPA1 (V476I +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GConflicting classifications of pathogenicity
Select item 903316	NM_130837.3(OPA1):c.1286G>A (p.Gly429Asp)	OPA1 (G250D +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 903249	NM_130837.3(OPA1):c.-3G>A	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form +1 more	GUncertain significance
Select item 903248	NM_130837.3(OPA1):c.-144T>C	OPA1	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 903247	NM_015560.2(OPA1):c.-172T>A	OPA1	Single nucleotide variant	Autosomal dominant optic atrophy classic form	GBenign
Select item 903246	NM_015560.2(OPA1):c.-182C>A	OPA1	Single nucleotide variant	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 902598	NM_130837.3(OPA1):c.*2234G>A	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 902597	NM_130837.3(OPA1):c.*2170A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 902596	NM_130837.3(OPA1):c.*1920C>A	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 902595	NM_130837.3(OPA1):c.*1884C>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 902538	NM_130837.3(OPA1):c.*228A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GBenign
Select item 902537	NM_130837.3(OPA1):c.3016G>A (p.Ala1006Thr)	OPA1 (A933T +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 902456	NM_130837.3(OPA1):c.985G>A (p.Val329Ile)	OPA1 (V256I +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GUncertain significance
Select item 902455	NM_130837.3(OPA1):c.851A>G (p.Tyr284Cys)	OPA1 (Y229C +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 900932	NM_130837.3(OPA1):c.*1581A>C	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 900931	NM_130837.3(OPA1):c.*1266G>A	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 900930	NM_130837.3(OPA1):c.*1131C>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 900793	NM_130837.3(OPA1):c.678+13G>C	OPA1, OPA1-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 900792	NM_130837.3(OPA1):c.617C>T (p.Pro206Leu)	OPA1, OPA1-AS1 (P206L +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 900791	NM_130837.3(OPA1):c.556+2T>G	OPA1	Single nucleotide variant (splice donor variant +1 more)	Autosomal dominant optic atrophy classic form +1 more	GConflicting classifications of pathogenicity
Select item 899834	NM_130837.3(OPA1):c.*2902A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 899833	NM_130837.3(OPA1):c.*2861A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 899832	NM_130837.3(OPA1):c.*2839C>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 899831	NM_130837.3(OPA1):c.*2801A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 899771	NM_130837.3(OPA1):c.*1039A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 899770	NM_130837.3(OPA1):c.*743G>C	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 899712	NM_130837.3(OPA1):c.2531A>G (p.Asn844Ser)	OPA1 (N826S +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +3 more	GConflicting classifications of pathogenicity
Select item 899711	NM_130837.3(OPA1):c.1839G>A (p.Glu613=)	LOC126806913, OPA1	Single nucleotide variant (synonymous variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 871026	NM_130837.3(OPA1):c.2779-9A>G	OPA1	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 805095	NM_130837.3(OPA1):c.112C>T (p.Arg38Ter)	OPA1 (R38*)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 802043	NM_130837.3(OPA1):c.2983+6T>A	OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 802042	NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)	OPA1 (F593fs +9 more)	Deletion (frameshift variant)	Autosomal dominant optic atrophy classic form	GPathogenic
Select item 802041	NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)	OPA1 (T326R +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 802040	NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)	OPA1 (N412I +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GLikely pathogenic
Select item 802039	NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)	OPA1 (C252G +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 802038	NM_130837.3(OPA1):c.1051G>C (p.Asp351His)	OPA1 (D278H +9 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 596133	NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)	OPA1 (Y80C)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 586200	NM_130837.3(OPA1):c.1016C>T (p.Thr339Met)	OPA1 (T284M +9 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509668	NM_130837.3(OPA1):c.32+14C>T	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form +2 more	GBenign/Likely benign
Select item 451258	NM_130837.3(OPA1):c.1036G>C (p.Val346Leu)	OPA1 (V291L +9 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 432856	NM_130837.3(OPA1):c.2617C>T (p.Arg873Trp)	OPA1 (R818W +9 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 432381	NM_130837.3(OPA1):c.2429G>A (p.Arg810His)	OPA1 (R755H +9 more)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type) +6 more	GUncertain significance
Select item 431939	NM_130837.3(OPA1):c.1035+5G>A	OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 427152	NM_130837.3(OPA1):c.2962G>A (p.Val988Ile)	OPA1 (V933I +9 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 388730	NM_130837.3(OPA1):c.2973G>C (p.Ala991=)	OPA1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 382460	NM_130837.3(OPA1):c.2592T>C (p.Leu864=)	OPA1	Single nucleotide variant (synonymous variant)	OPA1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 380688	NM_130837.3(OPA1):c.1262G>A (p.Arg421Gln)	OPA1 (R366Q +9 more)	Single nucleotide variant (missense variant)	Autosomal dominant optic atrophy classic form +1 more	GConflicting classifications of pathogenicity
Select item 378311	NM_130837.3(OPA1):c.949-11A>C	OPA1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 378310	NM_130837.3(OPA1):c.-10C>T	OPA1	Single nucleotide variant (5 prime UTR variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 374781	NM_130837.3(OPA1):c.1230+5G>A	OPA1	Single nucleotide variant (intron variant)	Autosomal dominant optic atrophy classic form +1 more	GLikely pathogenic
Select item 344523	NM_130837.3(OPA1):c.*3147G>C	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 344522	NM_130837.3(OPA1):c.*3027A>G	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GBenign
Select item 344521	NM_130837.3(OPA1):c.*2993C>A	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GBenign
Select item 344520	NM_130837.3(OPA1):c.*2909A>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 344519	NM_130837.3(OPA1):c.*2873A>T	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GBenign
Select item 344518	NM_130837.3(OPA1):c.*2694T>A	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance
Select item 344517	NM_130837.3(OPA1):c.*2692G>A	OPA1	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant optic atrophy classic form	GUncertain significance

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