"GeneDx"[submitter] AND "CRX"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	LOC130064822, LOC130064823 +290 more	Copy number gain	See cases	GPathogenic
Select item 1243300	NM_000554.6(CRX):c.-35-150T>C	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231525	NM_000554.6(CRX):c.-35-120A>G	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 329693	NM_000554.6(CRX):c.28C>G (p.His10Asp)	CRX (H10D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 7 +3 more	GConflicting classifications of pathogenicity
Select item 422939	NM_000554.6(CRX):c.100+3_100+5delinsTTA	CRX	Indel (intron variant)	Leber congenital amaurosis 7 +2 more	GPathogenic/Likely pathogenic
Select item 99592	NM_000554.6(CRX):c.100+12C>T	CRX	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 1260296	NM_000554.6(CRX):c.100+97G>A	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1175701	NM_000554.6(CRX):c.101-200T>C	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1292985	NM_000554.6(CRX):c.101-147A>G	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 329695	NM_000554.6(CRX):c.101-12A>G	CRX	Single nucleotide variant (intron variant)	Retinitis pigmentosa +3 more	GBenign
Select item 864383	NM_000554.6(CRX):c.118C>T (p.Arg40Trp)	CRX (R40W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 956064	NM_000554.6(CRX):c.128G>A (p.Arg43His)	CRX (R43H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 523984	NM_000554.6(CRX):c.164dup (p.Ala56fs)	CRX (A56fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 99597	NM_000554.6(CRX):c.196G>A (p.Val66Ile)	CRX (V66I)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +6 more	GBenign/Likely benign
Select item 7416	NM_000554.6(CRX):c.239A>C (p.Glu80Ala)	CRX (E80A)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1278343	NM_000554.6(CRX):c.252+203T>A	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265251	NM_000554.6(CRX):c.253-282G>A	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254921	NM_000554.6(CRX):c.253-242C>T	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239882	NM_000554.6(CRX):c.253-235C>T	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241286	NM_000554.6(CRX):c.253-213G>C	CRX	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 99600	NM_000554.6(CRX):c.253-15G>A	CRX	Single nucleotide variant (intron variant)	Leber congenital amaurosis 7 +3 more	GConflicting classifications of pathogenicity
Select item 7422	NM_000554.6(CRX):c.268C>T (p.Arg90Trp)	CRX (R90W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 452003	NM_000554.6(CRX):c.269G>A (p.Arg90Gln)	CRX (R90Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 99604	NM_000554.6(CRX):c.365G>A (p.Gly122Asp)	CRX (G122D)	Single nucleotide variant (missense variant)	not specified +6 more	GBenign/Likely benign
Select item 99605	NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)	CRX (Y142C)	Single nucleotide variant (missense variant)	Cone-rod dystrophy 2 +4 more	GConflicting classifications of pathogenicity
Select item 2504996	NM_000554.6(CRX):c.445_467del (p.Pro149fs)	CRX (P149fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 218921	NM_000554.6(CRX):c.449C>G (p.Ser150Ter)	CRX (S150*)	Single nucleotide variant (nonsense)	Cone-rod dystrophy 2 +3 more	GPathogenic/Likely pathogenic
Select item 99608	NM_000554.6(CRX):c.472G>A (p.Ala158Thr)	CRX (A158T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 967632	NM_000554.6(CRX):c.487T>C (p.Trp163Arg)	CRX (W163R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 329697	NM_000554.6(CRX):c.551C>T (p.Pro184Leu)	CRX (P184L)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 546387	NM_000554.6(CRX):c.568C>T (p.Pro190Ser)	CRX (P190S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 99619	NM_000554.6(CRX):c.650del (p.Gly217fs)	CRX (G217fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 450613	NM_000554.6(CRX):c.733T>C (p.Ser245Pro)	CRX (S245P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306092	NM_000554.6(CRX):c.734C>A (p.Ser245Tyr)	CRX (S245Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 329706	NM_000554.6(CRX):c.*308AAG[2]	CRX	Microsatellite (3 prime UTR variant)	Cone-Rod Dystrophy, Dominant +3 more	GBenign
Select item 254012	GRCh37/hg19 19q13.33(chr19:48345470-48575975)x3	CRX, BSPH1 +4 more	Copy number gain	See cases	GUncertain significance

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Items: 36