Related gene-specific medical variations for Gene (Select 1406) - ClinVar

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Links from Gene

Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248514	NC_000019.9:g.(?_48342985)_(48346262_?)del	CRX	Deletion	Cone-rod dystrophy 2 +1 more	GPathogenic
Select item 3248513	NC_000019.9:g.(?_48337701)_(48337820_?)dup	CRX	Duplication	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 3248512	NC_000019.9:g.(?_48337701)_(48343224_?)dup	CRX	Duplication	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 3248511	NC_000019.9:g.(?_48342557)_(48343224_?)del	CRX	Deletion	Cone-rod dystrophy 2 +1 more	GUncertain significance
Select item 1184468	NM_000554.6(CRX):c.522_523dup (p.Gln175fs)	CRX (Q175fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 7	GPathogenic
Select item 987308	NM_000554.6(CRX):c.501dup (p.Glu168fs)	CRX (E168fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 931935	NM_000554.6(CRX):c.139A>C (p.Thr47Pro)	CRX (T47P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GUncertain significance
Select item 867219	NM_000554.6(CRX):c.586del (p.Ala196fs)	CRX (A196fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 867106	NM_000554.6(CRX):c.378A>C (p.Arg126Ser)	CRX (R126S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866673	NM_000554.6(CRX):c.313C>T (p.Gln105Ter)	CRX (Q105*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 866251	NM_000554.6(CRX):c.621_623delinsTT (p.Tyr208fs)	CRX (Y208fs)	Indel (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865803	NM_000554.6(CRX):c.239A>G (p.Glu80Gly)	CRX (E80G)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 636230	NM_000554.4:c.(?_-1)_(*1_?)dup	CRX	Duplication	Retinitis pigmentosa	GUncertain significance
Select item 618048	NM_000554.6(CRX):c.-29T>A	CRX	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 161470	NM_000554.6(CRX):c.107C>A (p.Pro36His)	CRX (P36H)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance
Select item 99623	NM_000554.6(CRX):c.789del (p.Val264fs)	CRX (V264fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99620	NM_000554.6(CRX):c.709del (p.Leu237fs)	CRX (L237fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99616	NM_000554.6(CRX):c.587_590del (p.Ala196fs)	CRX (A196fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99615	NM_000554.6(CRX):c.585dup (p.Ala196fs)	CRX (A196fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 99612	NM_000554.6(CRX):c.541del (p.Ala181fs)	CRX (A181fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99610	NM_000554.6(CRX):c.505del (p.Ser169fs)	CRX (S169fs)	Deletion (frameshift variant)	not provided	Gnot provided
Select item 99606	NM_000554.6(CRX):c.436_447del (p.Leu146_Pro149del)	CRX	Deletion (inframe_deletion)	not provided	Gnot provided
Select item 99603	NM_000554.6(CRX):c.351dup (p.Lys118fs)	CRX (K118fs)	Duplication (frameshift variant)	not provided	Gnot provided
Select item 99601	NM_000554.6(CRX):c.253-18T>A	CRX	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 99598	NM_000554.6(CRX):c.24dup (p.Pro9fs)	CRX (P9fs)	Duplication (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 99595	NM_000554.6(CRX):c.101-65A>T	CRX	Single nucleotide variant (intron variant)	not provided	Gnot provided
Select item 99594	NM_000554.6(CRX):c.101-13C>G	CRX	Single nucleotide variant (intron variant)	not provided	Gnot provided

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Links from Gene

Items: 27