"SIB Swiss Institute of Bioinformatics"[submitter] AND "GUCA1A"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974932	NM_001384910.1(GUCA1A):c.204C>G (p.Asp68Glu)	GUCA1A, GUCA1ANB-GUCA1A (D68E)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 974936	NM_001384910.1(GUCA1A):c.238C>A (p.Leu80Ile)	GUCA1A, GUCA1ANB-GUCA1A (L80I)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 225232	NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe)	GUCA1A, GUCA1ANB-GUCA1A (L84F)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 974939	NM_001384910.1(GUCA1A):c.256G>C (p.Gly86Arg)	GUCA1A, GUCA1ANB-GUCA1A (G86R)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GLikely pathogenic
Select item 974930	NM_001384910.1(GUCA1A):c.295T>A (p.Tyr99Asn)	GUCA1A, GUCA1ANB-GUCA1A (Y99N)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GLikely pathogenic
Select item 974931	NM_001384910.1(GUCA1A):c.296A>C (p.Tyr99Ser)	GUCA1A, GUCA1ANB-GUCA1A (Y99S)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GLikely pathogenic
Select item 867021	NM_001384910.1(GUCA1A):c.299A>G (p.Asp100Gly)	GUCA1A, GUCA1ANB-GUCA1A +1 more (D100G)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +2 more	GPathogenic/Likely pathogenic
Select item 974933	NM_001384910.1(GUCA1A):c.300T>A (p.Asp100Glu)	GUCA1A, GUCA1ANB-GUCA1A (D100E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 974938	NM_001384910.1(GUCA1A):c.312C>A (p.Asn104Lys)	GUCA1A, GUCA1ANB-GUCA1A (N104K)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 225233	NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr)	GUCA1A, GUCA1ANB-GUCA1A (I107T)	Single nucleotide variant (missense variant)	Cone dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 962836	NM_001384910.1(GUCA1A):c.332A>T (p.Glu111Val)	GUCA1A, GUCA1ANB-GUCA1A (E111V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 453246	NM_001384910.1(GUCA1A):c.359_360delinsTT (p.Arg120Leu)	GUCA1A, GUCA1ANB-GUCA1A (R120L)	Indel (missense variant)	Cone dystrophy 3	GPathogenic
Select item 974934	NM_001384910.1(GUCA1A):c.431A>G (p.Asp144Gly)	GUCA1A, GUCA1ANB-GUCA1A (D144G)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GLikely pathogenic
Select item 974937	NM_001384910.1(GUCA1A):c.444T>A (p.Asp148Glu)	GUCA1A, GUCA1ANB-GUCA1A (D148E)	Single nucleotide variant (missense variant)	Cone dystrophy 3	GUncertain significance
Select item 974935	NM_001384910.1(GUCA1A):c.464A>G (p.Glu155Gly)	GUCA1A, GUCA1ANB-GUCA1A (E155G)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 198078	NM_001384910.1(GUCA1A):c.526C>T (p.Leu176Phe)	GUCA1A, GUCA1ANB-GUCA1A (L176F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity