"Genome-Nilou Lab"[submitter] AND "GNAT2"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 942299	NM_001377295.2(GNAT2):c.1057C>T (p.Leu353Phe)	GNAT2 (L353F)	Single nucleotide variant (missense variant)	Achromatopsia 4 +2 more	GUncertain significance
Select item 1058578	NM_001377295.2(GNAT2):c.1031T>C (p.Ile344Thr)	GNAT2 (I344T)	Single nucleotide variant (missense variant)	Achromatopsia 4 +2 more	GUncertain significance
Select item 876588	NM_001377295.2(GNAT2):c.845A>C (p.His282Pro)	GNAT2 (H282P)	Single nucleotide variant (missense variant)	Achromatopsia 4 +1 more	GUncertain significance
Select item 941593	NM_001377295.2(GNAT2):c.818T>A (p.Leu273His)	GNAT2 (L273H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 623281	NM_001377295.2(GNAT2):c.724C>T (p.Arg242Cys)	GNAT2 (R242C)	Single nucleotide variant (missense variant)	Achromatopsia 4 +1 more	GUncertain significance
Select item 876589	NM_001377295.2(GNAT2):c.715G>A (p.Glu239Lys)	GNAT2, LOC129388577 (E239K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 259744	NM_001377295.2(GNAT2):c.546G>A (p.Thr182=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 522772	NM_001377295.2(GNAT2):c.481C>T (p.Arg161Ter)	GNAT2 (R161*)	Single nucleotide variant (nonsense)	Achromatopsia 4 +2 more	GPathogenic
Select item 197251	NM_001377295.2(GNAT2):c.370G>A (p.Val124Met)	GNAT2 (V124M)	Single nucleotide variant (missense variant)	Achromatopsia 4 +2 more	GLikely benign
Select item 291722	NM_001377295.2(GNAT2):c.369C>T (p.Leu123=)	GNAT2	Single nucleotide variant (synonymous variant)	Achromatopsia 4 +1 more	GBenign/Likely benign
Select item 259743	NM_001377295.2(GNAT2):c.319C>A (p.Leu107Ile)	GNAT2 (L107I)	Single nucleotide variant (missense variant)	Achromatopsia 4 +2 more	GBenign
Select item 1906021	NM_001377295.2(GNAT2):c.281A>C (p.Asp94Ala)	GNAT2 (D94A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 873744	NM_001377295.2(GNAT2):c.243C>G (p.Ile81Met)	GNAT2 (I81M)	Single nucleotide variant (missense variant)	Achromatopsia 4 +1 more	GUncertain significance
Select item 195241	NM_001377295.2(GNAT2):c.147C>T (p.Ile49=)	GNAT2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 259742	NM_001377295.2(GNAT2):c.-32A>G	GNAT2	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GBenign