"Eurofins Ntd Llc (ga)"[submitter] AND "GUCA1A"[gene] - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 196267	NM_001384910.1(GUCA1A):c.9C>T (p.Asn3=)	GUCA1ANB-GUCA1A, GUCA1A	Single nucleotide variant (synonymous variant)	Cone dystrophy 3 +2 more	GBenign/Likely benign
Select item 499555	NM_001384910.1(GUCA1A):c.31_36del (p.Glu11_Glu12del)	GUCA1A, GUCA1ANB-GUCA1A	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 167160	NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	Cone dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 196268	NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu)	GUCA1A, GUCA1ANB-GUCA1A (S51L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 167161	NM_001384910.1(GUCA1A):c.364A>G (p.Ile122Val)	GUCA1ANB-GUCA1A, GUCA1A (I122V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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
Select item 500440	NM_001384910.1(GUCA1A):c.600C>T (p.Ala200=)	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 498470	NM_001384910.1(GUCA1A):c.*8G>A	GUCA1A, GUCA1ANB-GUCA1A	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance