"Blueprint Genetics"[submitter] AND "LOC101927157"[gene] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866019	NM_001379270.1(CNGA1):c.1743_1746del (p.Thr582fs)	CNGA1, LOC101927157 (T582fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866470	NM_001379270.1(CNGA1):c.1688del (p.Ser563fs)	CNGA1, LOC101927157 (S563fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866035	NM_001379270.1(CNGA1):c.1673C>T (p.Thr558Met)	CNGA1, LOC101927157 (T558M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866044	NM_001379270.1(CNGA1):c.1582G>A (p.Val528Ile)	CNGA1, LOC101927157 (V528I)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 236443	NM_001379270.1(CNGA1):c.1528C>T (p.Arg510Ter)	CNGA1, LOC101927157 (R583* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 49 +3 more	GPathogenic/Likely pathogenic
Select item 866020	NM_001379270.1(CNGA1):c.1526G>A (p.Gly509Glu)	CNGA1, LOC101927157 (G509E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866887	NM_001379270.1(CNGA1):c.1499A>G (p.Asp500Gly)	CNGA1, LOC101927157 (D500G)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GUncertain significance
Select item 866199	NM_001379270.1(CNGA1):c.1475A>C (p.Gln492Pro)	CNGA1, LOC101927157 (Q492P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866877	NM_001379270.1(CNGA1):c.1435T>C (p.Cys479Arg)	CNGA1, LOC101927157 (C479R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 850020	NM_001379270.1(CNGA1):c.1327dup (p.Thr443fs)	CNGA1, LOC101927157 (T443fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 866760	NM_001379270.1(CNGA1):c.1258C>T (p.Arg420Ter)	CNGA1, LOC101927157 (R420*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 866125	NM_001379270.1(CNGA1):c.1061T>C (p.Leu354Pro)	CNGA1, LOC101927157 (L354P)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 866043	NM_001379270.1(CNGA1):c.1044C>G (p.Ser348Arg)	CNGA1, LOC101927157 (S348R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 16932	NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)	CNGA1, LOC101927157 (S389F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GPathogenic/Likely pathogenic
Select item 866138	NM_001379270.1(CNGA1):c.826C>T (p.Arg276Cys)	CNGA1, LOC101927157 (R276C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 225315	NM_001379270.1(CNGA1):c.253del (p.Leu85fs)	CNGA1, LOC101927157 (L85fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 866975	NM_001379270.1(CNGA1):c.105C>A (p.Cys35Ter)	CNGA1, LOC101927157 (C35*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 548707	NM_001379270.1(CNGA1):c.82C>T (p.Arg28Ter)	CNGA1, LOC101927157 (R101* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic