ClinVar for MedGen (Select 322767) - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3236193	NM_001319074.4(RAX2):c.443dup (p.His149fs)	RAX2 (H149fs)	Duplication (frameshift variant)	Cone-rod dystrophy 11	GPathogenic
Select item 892560	NM_001319074.4(RAX2):c.131G>A (p.Arg44Gln)	RAX2 (R44Q)	Single nucleotide variant (missense variant)	Age related macular degeneration 6 +2 more	GConflicting classifications of pathogenicity
Select item 892559	NM_001319074.4(RAX2):c.134C>T (p.Ala45Val)	RAX2 (A45V)	Single nucleotide variant (missense variant)	Age related macular degeneration 6 +3 more	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 892494	NM_001319074.4(RAX2):c.535A>G (p.Arg179Gly)	RAX2 (R179G)	Single nucleotide variant (missense variant)	Age related macular degeneration 6 +2 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 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 891363	NM_001319074.4(RAX2):c.217-11G>C	RAX2	Single nucleotide variant (intron 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 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 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 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 891193	NM_001319074.4(RAX2):c.*1169G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign/Likely benign
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 889884	NM_001319074.4(RAX2):c.-275G>A	RAX2	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 6 +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 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 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 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 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 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 889200	NM_001319074.4(RAX2):c.49G>C (p.Gly17Arg)	RAX2 (G17R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889124	NM_001319074.4(RAX2):c.320C>T (p.Pro107Leu)	RAX2 (P107L)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 889123	NM_001319074.4(RAX2):c.385G>A (p.Val129Met)	RAX2 (V129M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 889122	NM_001319074.4(RAX2):c.413C>T (p.Pro138Leu)	RAX2 (P138L)	Single nucleotide variant (missense variant)	Age related macular degeneration 6 +3 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 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 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 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 635426	NM_001319074.4(RAX2):c.92G>A (p.Arg31His)	RAX2 (R31H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 599132	NM_001319074.4(RAX2):c.275C>T (p.Ser92Leu)	RAX2 (S92L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 328978	NM_001319074.4(RAX2):c.-319C>A	RAX2	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328977	NM_001319074.4(RAX2):c.-316G>A	RAX2	Single nucleotide variant (5 prime UTR variant)	Age related macular degeneration 6 +1 more	GBenign/Likely benign
Select item 328976	NM_001319074.4(RAX2):c.-286G>T	RAX2	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328975	NM_001319074.4(RAX2):c.-281G>A	RAX2	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign/Likely benign
Select item 328974	NM_001319074.4(RAX2):c.-270C>T	RAX2	Single nucleotide variant (5 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign/Likely benign
Select item 328973	NM_001319074.4(RAX2):c.-269+8C>T	RAX2	Single nucleotide variant (intron variant)	Cone-rod dystrophy 11 +1 more	GUncertain significance
Select item 328972	NM_001319074.4(RAX2):c.19G>A (p.Glu7Lys)	RAX2 (E7K)	Single nucleotide variant (missense variant)	Age related macular degeneration 6 +3 more	GConflicting classifications of pathogenicity
Select item 328971	NM_001319074.4(RAX2):c.76A>C (p.Lys26Gln)	RAX2 (K26Q)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11 +2 more	GConflicting classifications of pathogenicity
Select item 328970	NM_001319074.4(RAX2):c.83G>A (p.Arg28Gln)	RAX2 (R28Q)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 328969	NM_001319074.4(RAX2):c.156G>A (p.Pro52=)	RAX2	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328968	NM_001319074.4(RAX2):c.217-10C>T	RAX2	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 328967	NM_001319074.4(RAX2):c.217-8C>A	RAX2	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 328966	NM_001319074.4(RAX2):c.282C>T (p.Ala94=)	RAX2	Single nucleotide variant (synonymous 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 328964	NM_001319074.4(RAX2):c.*45C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 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 328962	NM_001319074.4(RAX2):c.*191C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign/Likely benign
Select item 328961	NM_001319074.4(RAX2):c.*381A>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +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 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 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 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 328955	NM_001319074.4(RAX2):c.*720G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign
Select item 328953	NM_001319074.4(RAX2):c.*785G>A	RAX2	Single nucleotide variant (3 prime UTR variant)	Age related macular degeneration 6 +1 more	GBenign
Select item 328952	NM_001319074.4(RAX2):c.*866C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign
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 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 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 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 328945	NM_001319074.4(RAX2):c.*1149C>T	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 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 328942	NM_001319074.4(RAX2):c.*1366C>G	RAX2	Single nucleotide variant (3 prime UTR variant)	Cone-rod dystrophy 11 +1 more	GBenign
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 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 262101	NM_001319074.4(RAX2):c.432G>A (p.Ala144=)	RAX2	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 208124	NM_001319074.4(RAX2):c.465_475del (p.Ala156fs)	RAX2 (A156fs)	Deletion (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 195392	NM_001319074.4(RAX2):c.45T>G (p.Gly15=)	RAX2	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 96230	NM_001319074.4(RAX2):c.217-8C>T	RAX2	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 96229	NM_001319074.4(RAX2):c.155C>T (p.Pro52Leu)	RAX2 (P52L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
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 1241	NM_001319074.4(RAX2):c.409G>C (p.Gly137Arg)	RAX2 (G137R)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 11	GPathogenic

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Items: 72