"Ambry Genetics"[submitter] AND "CNGA1"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2322933	NM_001379270.1(CNGA1):c.2033C>T (p.Ala678Val)	CNGA1, LOC101927157 (A682V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2167046	NM_001379270.1(CNGA1):c.2018T>C (p.Ile673Thr)	CNGA1, LOC101927157 (I677T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2613147	NM_001379270.1(CNGA1):c.1967C>T (p.Thr656Ile)	CNGA1, LOC101927157 (T660I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2007919	NM_001379270.1(CNGA1):c.1948A>G (p.Lys650Glu)	CNGA1, LOC101927157 (K654E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1026792	NM_001379270.1(CNGA1):c.1891G>T (p.Asp631Tyr)	CNGA1, LOC101927157 (D631Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 842579	NM_001379270.1(CNGA1):c.1874G>A (p.Arg625Gln)	CNGA1, LOC101927157 (R625Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 954391	NM_001379270.1(CNGA1):c.1768A>G (p.Met590Val)	CNGA1, LOC101927157 (M590V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2198745	NM_001379270.1(CNGA1):c.1597G>T (p.Val533Leu)	CNGA1, LOC101927157 (V537L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2487149	NM_001379270.1(CNGA1):c.1288G>A (p.Val430Ile)	CNGA1, LOC101927157 (V434I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 901407	NM_001379270.1(CNGA1):c.1237A>G (p.Ile413Val)	CNGA1, LOC101927157 (I413V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 1464410	NM_001379270.1(CNGA1):c.1223C>T (p.Ala408Val)	CNGA1, LOC101927157 (A408V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2302518	NM_001379270.1(CNGA1):c.1192A>C (p.Asn398His)	LOC101927157, CNGA1 (N398H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2267372	NM_001379270.1(CNGA1):c.1036G>T (p.Val346Leu)	LOC101927157, CNGA1 (V350L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2331964	NM_001379270.1(CNGA1):c.970G>C (p.Gly324Arg)	LOC101927157, CNGA1 (G324R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597555	NM_001379270.1(CNGA1):c.755C>G (p.Thr252Ser)	CNGA1, LOC101927157 (T252S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479576	NM_001379270.1(CNGA1):c.650C>T (p.Thr217Ile)	CNGA1, LOC101927157 (T221I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1486906	NM_001379270.1(CNGA1):c.490T>C (p.Trp164Arg)	CNGA1, LOC101927157 (W164R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253529	NM_001379270.1(CNGA1):c.358A>C (p.Asn120His)	LOC101927157, CNGA1 (N120H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389431	NM_001379270.1(CNGA1):c.354T>A (p.Asn118Lys)	CNGA1, LOC101927157 (N122K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 197626	NM_001379270.1(CNGA1):c.179G>T (p.Gly60Val)	LOC101927157, CNGA1 (G60V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2306022	NM_001379270.1(CNGA1):c.126T>A (p.Asp42Glu)	CNGA1, LOC101927157 (D42E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2251867	NM_001379270.1(CNGA1):c.27G>C (p.Gln9His)	CNGA1, LOC101927157 (Q13H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

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Items: 22