"Illumina Laboratory Services, Illumina"[submitter] AND "CNGA3"[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337644	NM_001298.2(CNGA3):c.-406C>T	CNGA3	Single nucleotide variant	Achromatopsia 2	GLikely benign
Select item 337645	NM_001298.2(CNGA3):c.-388C>G	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 337646	NM_001298.2(CNGA3):c.-383A>G	CNGA3	Single nucleotide variant	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 898302	NM_001298.2(CNGA3):c.-381A>G	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 337647	NM_001298.2(CNGA3):c.-326G>A	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 337648	NM_001298.2(CNGA3):c.-287C>T	CNGA3	Single nucleotide variant	Achromatopsia	GUncertain significance
Select item 337649	NM_001298.2(CNGA3):c.-286C>T	CNGA3	Single nucleotide variant	Achromatopsia 2	GBenign
Select item 337650	NM_001298.2(CNGA3):c.-271G>A	CNGA3	Single nucleotide variant	Achromatopsia 2	GUncertain significance
Select item 895314	NM_001298.3(CNGA3):c.-65G>C	CNGA3	Single nucleotide variant (5 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337651	NM_001298.3(CNGA3):c.-43G>A	CNGA3	Single nucleotide variant (5 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895315	NM_001298.3(CNGA3):c.59C>T (p.Thr20Ile)	CNGA3 (T20I)	Single nucleotide variant (missense variant)	CNGA3-related condition +2 more	GBenign/Likely benign
Select item 337652	NM_001298.3(CNGA3):c.67C>T (p.Arg23Ter)	CNGA3 (R23*)	Single nucleotide variant (nonsense)	Achromatopsia 2 +1 more	GPathogenic
Select item 895316	NM_001298.3(CNGA3):c.68G>A (p.Arg23Gln)	CNGA3 (R23Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 257964	NM_001298.3(CNGA3):c.72T>C (p.Asp24=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 895317	NM_001298.3(CNGA3):c.80G>A (p.Arg27His)	CNGA3 (R27H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 208567	NM_001298.3(CNGA3):c.101+1G>A	CNGA3	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 74757	NM_001298.3(CNGA3):c.110C>T (p.Ser37Leu)	CNGA3 (S37L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 738219	NM_001298.3(CNGA3):c.129G>A (p.Ser43=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 288895	NM_001298.3(CNGA3):c.143C>T (p.Pro48Leu)	CNGA3 (P48L)	Single nucleotide variant (missense variant)	CNGA3-related condition +3 more	GBenign/Likely benign
Select item 896736	NM_001298.3(CNGA3):c.144G>A (p.Pro48=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 896737	NM_001298.3(CNGA3):c.154A>G (p.Met52Val)	CNGA3 (M52V)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 257962	NM_001298.3(CNGA3):c.198C>T (p.Thr66=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 858875	NM_001298.3(CNGA3):c.211G>A (p.Ala71Thr)	CNGA3 (A71T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337653	NM_001298.3(CNGA3):c.215+11A>G	CNGA3	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 337654	NM_001298.3(CNGA3):c.225C>T (p.Arg75=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 337655	NM_001298.3(CNGA3):c.238C>T (p.Leu80=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 288342	NM_001298.3(CNGA3):c.284C>T (p.Pro95Leu)	CNGA3 (P95L)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 897207	NM_001298.3(CNGA3):c.373G>A (p.Glu125Lys)	CNGA3 (E125K)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 897208	NM_001298.3(CNGA3):c.395+9C>T	CNGA3	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 337656	NM_001298.3(CNGA3):c.396-4G>A	CNGA3	Single nucleotide variant (intron variant)	CNGA3-related condition +2 more	GBenign/Likely benign
Select item 897209	NM_001298.3(CNGA3):c.440C>G (p.Thr147Arg)	CNGA3 (T147R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897210	NM_001298.3(CNGA3):c.449+13A>G	CNGA3	Single nucleotide variant (intron variant)	Achromatopsia 2	GUncertain significance
Select item 285271	NM_001298.3(CNGA3):c.458C>T (p.Thr153Met)	CNGA3 (T153M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 898382	NM_001298.3(CNGA3):c.471T>G (p.Asp157Glu)	CNGA3 (D139E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 374721	NM_001298.3(CNGA3):c.473C>T (p.Ala158Val)	CNGA3 (A158V +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +2 more	GConflicting classifications of pathogenicity
Select item 898383	NM_001298.3(CNGA3):c.478G>A (p.Val160Met)	CNGA3 (V142M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337657	NM_001298.3(CNGA3):c.553C>G (p.Leu185Val)	CNGA3 (L185V +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 337658	NM_001298.3(CNGA3):c.566+6C>T	CNGA3	Single nucleotide variant (intron variant)	CNGA3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 898384	NM_001298.3(CNGA3):c.566+14G>A	CNGA3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 898385	NM_001298.3(CNGA3):c.584T>C (p.Leu195Pro)	CNGA3 (L177P +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 377069	NM_001298.3(CNGA3):c.592G>A (p.Glu198Lys)	CNGA3 (E198K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 337659	NM_001298.3(CNGA3):c.682G>A (p.Glu228Lys)	CNGA3 (E228K +1 more)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GConflicting classifications of pathogenicity
Select item 898386	NM_001298.3(CNGA3):c.715C>T (p.Leu239=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2	GUncertain significance
Select item 198771	NM_001298.3(CNGA3):c.740C>T (p.Thr247Met)	CNGA3 (T247M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337660	NM_001298.3(CNGA3):c.777C>A (p.Thr259=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 9475	NM_001298.3(CNGA3):c.848G>A (p.Arg283Gln)	CNGA3 (R283Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 337661	NM_001298.3(CNGA3):c.983T>C (p.Ile328Thr)	CNGA3 (I328T +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 722716	NM_001298.3(CNGA3):c.1116C>T (p.Pro372=)	CNGA3	Single nucleotide variant (synonymous variant)	CNGA3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 895396	NM_001298.3(CNGA3):c.1134T>C (p.Tyr378=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2	GUncertain significance
Select item 9479	NM_001298.3(CNGA3):c.1228C>T (p.Arg410Trp)	CNGA3 (R392W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 895397	NM_001298.3(CNGA3):c.1254T>G (p.Asp418Glu)	CNGA3 (D418E +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 989367	NM_001298.3(CNGA3):c.1280G>T (p.Arg427Leu)	CNGA3 (R409L +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GLikely pathogenic
Select item 337662	NM_001298.3(CNGA3):c.1343A>G (p.Lys448Arg)	CNGA3 (K448R +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GUncertain significance
Select item 895398	NM_001298.3(CNGA3):c.1486C>T (p.Leu496=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 284151	NM_001298.3(CNGA3):c.1569C>T (p.Asn523=)	CNGA3	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 9480	NM_001298.3(CNGA3):c.1585G>A (p.Val529Met)	CNGA3 (V529M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 425212	NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile)	CNGA3 (V540I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337663	NM_001298.3(CNGA3):c.1626C>T (p.Ser542=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GBenign
Select item 337664	NM_001298.3(CNGA3):c.1679C>T (p.Ser560Leu)	CNGA3 (S560L +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GUncertain significance
Select item 337665	NM_001298.3(CNGA3):c.1746C>T (p.Asp582=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GBenign/Likely benign
Select item 896797	NM_001298.3(CNGA3):c.1767C>T (p.Thr589=)	CNGA3	Single nucleotide variant (synonymous variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 896798	NM_001298.3(CNGA3):c.1784A>G (p.Lys595Arg)	CNGA3 (K577R +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 337666	NM_001298.3(CNGA3):c.1845G>T (p.Glu615Asp)	CNGA3 (E615D +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 711262	NM_001298.3(CNGA3):c.1863G>A (p.Ala621=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337667	NM_001298.3(CNGA3):c.1866C>T (p.Asp622=)	CNGA3	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 337668	NM_001298.3(CNGA3):c.1949A>C (p.Glu650Ala)	CNGA3 (E650A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 337669	NM_001298.3(CNGA3):c.1968G>A (p.Met656Ile)	CNGA3 (M656I +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 864739	NM_001298.3(CNGA3):c.1982G>A (p.Arg661His)	CNGA3 (R643H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 897276	NM_001298.3(CNGA3):c.2005G>C (p.Val669Leu)	CNGA3 (V651L +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2 +1 more	GConflicting classifications of pathogenicity
Select item 337670	NM_001298.3(CNGA3):c.2050G>A (p.Gly684Arg)	CNGA3 (G684R +1 more)	Single nucleotide variant (missense variant)	Achromatopsia 2	GUncertain significance
Select item 337671	NM_001298.3(CNGA3):c.*60G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337672	NM_001298.3(CNGA3):c.*166G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337673	NM_001298.3(CNGA3):c.*178C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 898448	NM_001298.3(CNGA3):c.*269A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337674	NM_001298.3(CNGA3):c.*283G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 898449	NM_001298.3(CNGA3):c.*316A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337675	NM_001298.3(CNGA3):c.*418T>C	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337676	NM_001298.3(CNGA3):c.*469A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 898450	NM_001298.3(CNGA3):c.*470C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337677	NM_001298.3(CNGA3):c.*516T>C	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337678	NM_001298.3(CNGA3):c.*574C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GBenign
Select item 895461	NM_001298.3(CNGA3):c.*751T>C	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895462	NM_001298.3(CNGA3):c.*765G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337679	NM_001298.3(CNGA3):c.*838T>C	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GBenign
Select item 895463	NM_001298.3(CNGA3):c.*894C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337680	NM_001298.3(CNGA3):c.*904C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337681	NM_001298.3(CNGA3):c.*1050A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 895464	NM_001298.3(CNGA3):c.*1085G>A	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 337682	NM_001298.3(CNGA3):c.*1209del	CNGA3	Deletion (3 prime UTR variant)	Achromatopsia	GUncertain significance
Select item 337683	NM_001298.3(CNGA3):c.*1240C>T	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 896865	NM_001298.3(CNGA3):c.*1330A>G	CNGA3	Single nucleotide variant (3 prime UTR variant)	Achromatopsia 2	GUncertain significance
Select item 369351	NM_001298.2(CNGA3):c.*1351T>G	CNGA3	Single nucleotide variant (genic downstream transcript variant)	Achromatopsia	GLikely benign

ClinVar

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Items: 92