"Blueprint Genetics"[submitter] AND "GUCA1A"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 866995	NM_000409.5(GUCA1ANB-GUCA1A):c.41G>C (p.Ser14Thr)	GUCA1A, GUCA1ANB-GUCA1A (S14T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 841637	NM_001384910.1(GUCA1A):c.205G>C (p.Gly69Arg)	GUCA1A, GUCA1ANB-GUCA1A (G69R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 867036	NM_001384910.1(GUCA1A):c.212T>C (p.Ile71Thr)	GUCA1A, GUCA1ANB-GUCA1A (I71T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866873	NM_000409.5(GUCA1ANB-GUCA1A):c.245T>A (p.Leu82Ter)	GUCA1A, GUCA1ANB-GUCA1A (L82*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GUncertain significance
Select item 865961	NM_000409.5(GUCA1ANB-GUCA1A):c.262G>T (p.Val88Leu)	GUCA1A, GUCA1ANB-GUCA1A (V88L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 9150	NM_001384910.1(GUCA1A):c.296A>G (p.Tyr99Cys)	GUCA1A, GUCA1ANB-GUCA1A (Y99C)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic
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 865998	NM_000409.5(GUCA1ANB-GUCA1A):c.359G>A (p.Arg120His)	GUCA1A, GUCA1ANB-GUCA1A (R120H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 449489	NM_001384910.1(GUCA1A):c.428delinsACAC (p.Ile143delinsAsnThr)	GUCA1A, GUCA1ANB-GUCA1A	Indel (inframe_indel)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 9152	NM_001384910.1(GUCA1A):c.451C>T (p.Leu151Phe)	GUCA1A, GUCA1ANB-GUCA1A (L151F)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic