RAX2[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 292

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58787	GRCh38/hg38 19p13.3(chr19:233565-4699472)x3	LOC130063041, LOC130063042 +687 more	Copy number gain	See cases	GPathogenic
Select item 154560	GRCh38/hg38 19p13.3(chr19:259395-6795611)x3	LOC130062978, LOC130062979 +903 more	Copy number gain	See cases	GPathogenic
Select item 145414	GRCh38/hg38 19p13.3(chr19:1549144-4288720)x1	ABHD17A, ADAT3 +387 more	Copy number loss	See cases	GPathogenic
Select item 59081	GRCh38/hg38 19p13.3(chr19:1565575-4108128)x3	ABHD17A, ADAT3 +362 more	Copy number gain	See cases	GPathogenic
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 60070	GRCh38/hg38 19p13.3(chr19:2926238-4051635)x1	APBA3, ATCAY +121 more	Copy number loss	See cases	GPathogenic
Select item 148645	GRCh38/hg38 19p13.3(chr19:3080621-4912622)x3	ANKRD24, APBA3 +223 more	Copy number gain	See cases	GLikely pathogenic
Select item 145080	GRCh38/hg38 19p13.3(chr19:3338024-4833139)x1	LOC121852974, LOC125371451 +193 more	Copy number loss	See cases	GPathogenic
Select item 146498	GRCh38/hg38 19p13.3(chr19:3437996-4039217)x1	APBA3, ATCAY +71 more	Copy number loss	See cases	GPathogenic
Select item 60071	GRCh38/hg38 19p13.3(chr19:3554635-4690965)x1	PIP5K1C, PLIN4 +142 more	Copy number loss	See cases	GPathogenic
Select item 328940	NM_001319074.4(RAX2):c.*1523T>C	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 890643	NM_001319074.4(RAX2):c.*1490A>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GUncertain significance
Select item 328941	NM_001319074.4(RAX2):c.*1483C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328942	NM_001319074.4(RAX2):c.*1366C>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +2 more	GBenign
Select item 328943	NM_001319074.4(RAX2):c.*1324A>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign
Select item 328944	NM_001319074.4(RAX2):c.*1205G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant +1 more	GUncertain significance
Select item 891193	NM_001319074.4(RAX2):c.*1169G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	not provided +2 more	GBenign/Likely benign
Select item 328945	NM_001319074.4(RAX2):c.*1149C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +2 more	GBenign
Select item 328946	NM_001319074.4(RAX2):c.*1145G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Macular degeneration +1 more	GUncertain significance
Select item 328947	NM_001319074.4(RAX2):c.1082_1092del	RAX2	Deletion (3 prime UTR variant)	Macular degeneration +1 more	GLikely benign
Select item 328948	NM_001319074.4(RAX2):c.*1054C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign/Likely benign
Select item 328949	NM_001319074.4(RAX2):c.*972T>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328950	NM_001319074.4(RAX2):c.*949C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 888997	NM_001319074.4(RAX2):c.*918G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GUncertain significance
Select item 328951	NM_001319074.4(RAX2):c.*902G>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GBenign
Select item 888998	NM_001319074.4(RAX2):c.*897C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328952	NM_001319074.4(RAX2):c.*866C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +2 more	GBenign
Select item 328953	NM_001319074.4(RAX2):c.*785G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +2 more	GBenign
Select item 889690	NM_001319074.4(RAX2):c.*784C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 889691	NM_001319074.4(RAX2):c.*776C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 891248	NM_001319074.4(RAX2):c.*751G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328954	NM_001319074.4(RAX2):c.721_724del	RAX2	Deletion (3 prime UTR variant)	Macular degeneration +1 more	GBenign
Select item 328955	NM_001319074.4(RAX2):c.*720G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +2 more	GBenign
Select item 328956	NM_001319074.4(RAX2):c.*689C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GBenign
Select item 891249	NM_001319074.4(RAX2):c.*687A>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328957	NM_001319074.4(RAX2):c.*680G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign
Select item 328958	NM_001319074.4(RAX2):c.*679C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GBenign/Likely benign
Select item 892438	NM_001319074.4(RAX2):c.*667G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 892439	NM_001319074.4(RAX2):c.*647T>C	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GBenign
Select item 328959	NM_001319074.4(RAX2):c.*624G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 889062	NM_001319074.4(RAX2):c.*552C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 889063	NM_001319074.4(RAX2):c.*501C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328960	NM_001319074.4(RAX2):c.*477del	RAX2	Deletion (3 prime UTR variant)	Macular degeneration +1 more	GUncertain significance
Select item 328961	NM_001319074.4(RAX2):c.*381A>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +2 more	GBenign
Select item 889754	NM_001319074.4(RAX2):c.*368C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +2 more	GUncertain significance
Select item 889755	NM_001319074.4(RAX2):c.*263C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 889756	NM_001319074.4(RAX2):c.*248C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 889757	NM_001319074.4(RAX2):c.*201C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 891296	NM_001319074.4(RAX2):c.*195G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 891297	NM_001319074.4(RAX2):c.*194C>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328962	NM_001319074.4(RAX2):c.*191C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +2 more	GBenign/Likely benign
Select item 328963	NM_001319074.4(RAX2):c.*88C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328964	NM_001319074.4(RAX2):c.*45C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +2 more	GBenign/Likely benign
Select item 328965	NM_001319074.4(RAX2):c.*7C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 1528305	NM_001319074.4(RAX2):c.552C>T (p.Ala184=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2012305	NM_001319074.4(RAX2):c.550G>A (p.Ala184Thr)	RAX2 (A184T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1364312	NM_001319074.4(RAX2):c.547C>A (p.Pro183Thr)	RAX2 (P183T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1903026	NM_001319074.4(RAX2):c.546G>A (p.Pro182=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1356299	NM_001319074.4(RAX2):c.545C>A (p.Pro182Gln)	RAX2 (P182Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 853992	NM_001319074.4(RAX2):c.544C>T (p.Pro182Ser)	RAX2 (P182S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 965435	NM_001319074.4(RAX2):c.538G>C (p.Ala180Pro)	RAX2 (A180P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892494	NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly)	RAX2 (R179G)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11 +2 more	GUncertain significance
Select item 2606186	NM_001319074.4(RAX2):c.533A>G (p.Asp178Gly)	RAX2 (D178G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2099642	NM_001319074.4(RAX2):c.520G>T (p.Ala174Ser)	RAX2 (A174S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 867077	NM_001319074.4(RAX2):c.516A>T (p.Glu172Asp)	RAX2 (E172D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1044398	NM_001319074.4(RAX2):c.514G>A (p.Glu172Lys)	RAX2 (E172K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1461501	NM_001319074.4(RAX2):c.513G>C (p.Lys171Asn)	RAX2 (K171N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1713838	NM_001319074.4(RAX2):c.511A>G (p.Lys171Glu)	RAX2 (K171E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1593470	NM_001319074.4(RAX2):c.510C>T (p.Ala170=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1491693	NM_001319074.4(RAX2):c.506T>G (p.Leu169Arg)	RAX2 (L169R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1008974	NM_001319074.4(RAX2):c.506T>C (p.Leu169Pro)	RAX2 (L169P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 623919	NM_001319074.4(RAX2):c.500G>A (p.Arg167Gln)	RAX2 (R167Q)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 951135	NM_001319074.4(RAX2):c.499C>T (p.Arg167Trp)	RAX2 (R167W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862070	NM_001319074.4(RAX2):c.491C>T (p.Ala164Val)	RAX2 (A164V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349595	NM_001319074.4(RAX2):c.479C>T (p.Ala160Val)	RAX2 (A160V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3152020	NM_001319074.4(RAX2):c.478G>A (p.Ala160Thr)	RAX2 (A160T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1138832	NM_001319074.4(RAX2):c.477C>T (p.Phe159=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 208124	NM_001319074.4(RAX2):c.465_475del (p.Ala156fs)	RAX2 (A156fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 1082769	NM_001319074.4(RAX2):c.465C>T (p.Phe155=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971550	NM_001319074.4(RAX2):c.461C>A (p.Thr154Asn)	RAX2 (T154N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1603967	NM_001319074.4(RAX2):c.459C>T (p.Pro153=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1386110	NM_001319074.4(RAX2):c.455C>T (p.Ala152Val)	RAX2 (A152V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 892495	NM_001319074.4(RAX2):c.446A>G (p.His149Arg)	RAX2 (H149R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 3236193	NM_001319074.4(RAX2):c.443dup (p.His149fs)	RAX2 (H149fs)	Duplication (frameshift variant)	Cone-rod dystrophy 11	GPathogenic
Select item 1097927	NM_001319074.4(RAX2):c.444T>C (p.Pro148=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 963088	NM_001319074.4(RAX2):c.439G>A (p.Gly147Arg)	RAX2 (G147R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899683	NM_001319074.4(RAX2):c.438C>T (p.Phe146=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 262101	NM_001319074.4(RAX2):c.432G>A (p.Ala144=)	RAX2	Single nucleotide variant (synonymous variant)	Age related macular degeneration 6 +3 more	GConflicting classifications of pathogenicity
Select item 1374703	NM_001319074.4(RAX2):c.431C>T (p.Ala144Val)	RAX2 (A144V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1058480	NM_001319074.4(RAX2):c.430G>T (p.Ala144Ser)	RAX2 (A144S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2874325	NM_001319074.4(RAX2):c.426G>A (p.Leu142=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1242	NM_001319074.4(RAX2):c.411CCCGGG[3] (p.138PG[3])	RAX2	Microsatellite (inframe_insertion)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1496857	NM_001319074.4(RAX2):c.422G>A (p.Gly141Glu)	RAX2 (G141E)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1384637	NM_001319074.4(RAX2):c.420G>A (p.Pro140=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1005815	NM_001319074.4(RAX2):c.414G>A (p.Pro138=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024633	NM_001319074.4(RAX2):c.407_412dup (p.Gly137_Pro138insLeuGly)	RAX2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 889122	NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)	RAX2 (P138L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11 +3 more	GUncertain significance
Select item 1630451	NM_001319074.4(RAX2):c.411C>T (p.Gly137=)	RAX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1241	NM_001319074.4(RAX2):c.409G>C (p.Gly137Arg)	RAX2 (G137R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11	GPathogenic
Select item 2799519	NM_001319074.4(RAX2):c.403C>A (p.Leu135Ile)	RAX2 (L135I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

<< First< Prev

Page of 3