"Myriad Genetics, Inc."[submitter] AND "CNGB3"[gene] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 624336	NM_019098.5(CNGB3):c.2158CAAAAAGAAAATGAAGATAAA[1] (p.720QKENEDK[1])	CNGB3	Microsatellite (inframe_deletion)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1724545	NM_019098.5(CNGB3):c.1849_1850del (p.Leu617fs)	CNGB3 (L617fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 554831	NM_019098.5(CNGB3):c.1672G>T (p.Gly558Cys)	CNGB3 (G558C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1726177	NM_019098.5(CNGB3):c.1619T>A (p.Leu540Ter)	CNGB3 (L540*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1725281	NM_019098.5(CNGB3):c.1496_1497del (p.Leu499fs)	CNGB3 (L499fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724456	NM_019098.5(CNGB3):c.1405del (p.Tyr469fs)	CNGB3 (Y469fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726477	NM_019098.5(CNGB3):c.1107T>A (p.Cys369Ter)	CNGB3 (C369*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1725024	NM_019098.5(CNGB3):c.1052del (p.Tyr351fs)	CNGB3 (Y351fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724275	NM_019098.5(CNGB3):c.1025_1026del (p.Glu342fs)	CNGB3 (E342fs)	Microsatellite (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724302	NM_019098.5(CNGB3):c.1019_1020del (p.His340fs)	CNGB3 (H340fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726740	NM_019098.5(CNGB3):c.969del (p.Phe323fs)	CNGB3 (F323fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1724210	NM_019098.5(CNGB3):c.893_897del (p.Thr298fs)	CNGB3 (T298fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1071430	NM_019098.5(CNGB3):c.886_890del (p.Thr296fs)	CNGB3 (T296fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726894	NM_019098.5(CNGB3):c.874A>T (p.Lys292Ter)	CNGB3 (K292*)	Single nucleotide variant (nonsense)	Achromatopsia 3	GLikely pathogenic
Select item 1726552	NM_019098.5(CNGB3):c.269del (p.Asn90fs)	CNGB3 (N90fs)	Deletion (frameshift variant)	Achromatopsia 3	GLikely pathogenic
Select item 1726850	NM_019098.5(CNGB3):c.59_61delinsCTGTCTCTTGTTCTCAT (p.Asn20fs)	CNGB3 (N20fs)	Indel (frameshift variant)	Achromatopsia 3	GLikely pathogenic