ClinVar for Gene (Select 101927157) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 465

<< First< Prev

Page of 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235165	NM_001379270.1(CNGA1):c.1535T>C (p.Met512Thr)	CNGA1, LOC101927157 (M512T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 49	GUncertain significance
Select item 3146433	NM_001379270.1(CNGA1):c.893A>G (p.Asn298Ser)	CNGA1, LOC101927157 (N302S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146431	NM_001379270.1(CNGA1):c.169C>T (p.His57Tyr)	CNGA1, LOC101927157 (H57Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3146430	NM_001379270.1(CNGA1):c.1522A>G (p.Ile508Val)	CNGA1, LOC101927157 (I508V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050180	NM_001379270.1(CNGA1):c.-15+10309C>T	CNGA1, LOC101927157	Single nucleotide variant (5 prime UTR variant +1 more)	CNGA1-related disorder	GLikely benign
Select item 3035342	NM_001379270.1(CNGA1):c.-15+10310G>A	CNGA1, LOC101927157	Single nucleotide variant (5 prime UTR variant +1 more)	CNGA1-related disorder	GLikely benign
Select item 3034348	NM_001379270.1(CNGA1):c.-15+10288_-15+10290del	CNGA1, LOC101927157	Deletion (intron variant)	CNGA1-related disorder	GLikely benign
Select item 3027679	NM_001379270.1(CNGA1):c.205A>G (p.Lys69Glu)	CNGA1, LOC101927157 (K69E +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027678	NM_001379270.1(CNGA1):c.653G>A (p.Gly218Asp)	CNGA1, LOC101927157 (G218D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027677	NM_001379270.1(CNGA1):c.652+2T>A	CNGA1, LOC101927157	Single nucleotide variant (splice donor variant)	Retinal dystrophy	GUncertain significance
Select item 3027676	NM_001379270.1(CNGA1):c.860G>A (p.Arg287Lys)	CNGA1, LOC101927157 (R287K +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027675	NM_001379270.1(CNGA1):c.989A>G (p.Tyr330Cys)	CNGA1, LOC101927157 (Y330C +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027674	NM_001379270.1(CNGA1):c.1187T>C (p.Ile396Thr)	CNGA1, LOC101927157 (I396T +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027673	NM_001379270.1(CNGA1):c.1317C>T (p.Thr439=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027672	NM_001379270.1(CNGA1):c.1429del (p.Ala477fs)	CNGA1, LOC101927157 (A477fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027671	NM_001379270.1(CNGA1):c.1467G>A (p.Leu489=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3027670	NM_001379270.1(CNGA1):c.1573G>A (p.Asp525Asn)	CNGA1, LOC101927157 (D525N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027669	NM_001379270.1(CNGA1):c.1632C>T (p.Ser544=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3027668	NM_001379270.1(CNGA1):c.1994T>C (p.Leu665Pro)	CNGA1, LOC101927157 (L665P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027667	NM_001379270.1(CNGA1):c.2042G>C (p.Gly681Ala)	CNGA1, LOC101927157 (G681A +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3003766	NM_001379270.1(CNGA1):c.1850A>C (p.Lys617Thr)	CNGA1, LOC101927157 (L31V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977477	NM_001379270.1(CNGA1):c.1752C>T (p.Tyr584=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2975032	NM_001379270.1(CNGA1):c.1767T>C (p.Thr589=)	CNGA1, LOC101927157 (I58M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2885582	NM_001379270.1(CNGA1):c.1459T>C (p.Leu487=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855460	NM_001379270.1(CNGA1):c.636del (p.Phe212fs)	CNGA1, LOC101927157 (F212fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2834225	NM_001379270.1(CNGA1):c.108-10T>C	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827896	NM_001379270.1(CNGA1):c.753A>T (p.Pro251=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819374	NM_001379270.1(CNGA1):c.546-20A>T	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819363	NM_001379270.1(CNGA1):c.546-18G>T	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819355	NM_001379270.1(CNGA1):c.546-16G>T	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819345	NM_001379270.1(CNGA1):c.546-16_546-15insATATTATTGGCCCCCAT	CNGA1, LOC101927157	Insertion (intron variant)	not provided	GLikely benign
Select item 2818033	NM_001379270.1(CNGA1):c.817C>A (p.Arg273=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813854	NM_001379270.1(CNGA1):c.1752C>A (p.Tyr584Ter)	CNGA1, LOC101927157 (Y588* +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GPathogenic
Select item 2813540	NM_001379270.1(CNGA1):c.311_323del (p.Lys104fs)	CNGA1, LOC101927157 (K104fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2811442	NM_001379270.1(CNGA1):c.825dup (p.Arg276fs)	CNGA1, LOC101927157 (R276fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2808766	NM_001379270.1(CNGA1):c.1119T>C (p.Phe373=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802768	NM_001379270.1(CNGA1):c.192T>C (p.Tyr64=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2796557	NM_001379270.1(CNGA1):c.107+2T>G	CNGA1, LOC101927157	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2783227	NM_001379270.1(CNGA1):c.667G>A (p.Gly223Arg)	CNGA1, LOC101927157 (G227R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776181	NM_001379270.1(CNGA1):c.330-17T>C	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2710736	NM_001379270.1(CNGA1):c.653-1G>T	CNGA1, LOC101927157	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2695220	NM_001379270.1(CNGA1):c.827G>C (p.Arg276Pro)	CNGA1, LOC101927157 (R276P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692791	NM_001379270.1(CNGA1):c.138T>G (p.Ser46=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2654750	NM_001379270.1(CNGA1):c.-15+10296G>A	CNGA1, LOC101927157	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 2654749	NM_001379270.1(CNGA1):c.1858G>A (p.Glu620Lys)	CNGA1, LOC101927157 (E620K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2628049	NM_001379270.1(CNGA1):c.1448T>G (p.Leu483Arg)	CNGA1, LOC101927157 (L483R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 49	GLikely pathogenic
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 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 2579174	GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	LOC129992561, LOC129992562 +1409 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2579172	GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	LOC123477714, LOC123477715 +1267 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2572419	NM_001379270.1(CNGA1):c.1079G>A (p.Gly360Asp)	CNGA1, LOC101927157 (G360D +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 49	GUncertain significance
Select item 2501675	NM_001379270.1(CNGA1):c.219del (p.Gln74fs)	CNGA1, LOC101927157 (Q74fs)	Deletion (frameshift variant)	Retinitis pigmentosa 49	GPathogenic
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 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 2443938	NM_001379270.1(CNGA1):c.610G>A (p.Asp204Asn)	CNGA1, LOC101927157 (D204N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 49	GPathogenic
Select item 2443933	NM_001379270.1(CNGA1):c.614_615del (p.Ile205fs)	CNGA1, LOC101927157 (I205fs)	Deletion (frameshift variant)	Retinitis pigmentosa 49	GPathogenic
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 2331964	NM_001379270.1(CNGA1):c.970G>C (p.Gly324Arg)	CNGA1, LOC101927157 (G324R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 2302518	NM_001379270.1(CNGA1):c.1192A>C (p.Asn398His)	CNGA1, LOC101927157 (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)	CNGA1, LOC101927157 (V350L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253529	NM_001379270.1(CNGA1):c.358A>C (p.Asn120His)	CNGA1, LOC101927157 (N120H +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
Select item 2203541	NM_001379270.1(CNGA1):c.1417del (p.Val473fs)	CNGA1, LOC101927157 (V473fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2198745	NM_001379270.1(CNGA1):c.1597G>T (p.Val533Leu)	CNGA1, LOC101927157 (V537L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2197671	NM_001379270.1(CNGA1):c.1974T>A (p.Val658=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2195402	NM_001379270.1(CNGA1):c.1570G>T (p.Ala524Ser)	CNGA1, LOC101927157 (A528S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2194975	NM_001379270.1(CNGA1):c.68T>C (p.Ile23Thr)	CNGA1, LOC101927157 (I23T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192225	NM_001379270.1(CNGA1):c.546-5dup	CNGA1, LOC101927157	Duplication (intron variant)	not provided	GBenign
Select item 2186749	NM_001379270.1(CNGA1):c.1940T>C (p.Met647Thr)	CNGA1, LOC101927157 (M651T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2184337	NM_001379270.1(CNGA1):c.330-9T>A	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2181165	NM_001379270.1(CNGA1):c.1092T>A (p.Pro364=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	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 2145812	NM_001379270.1(CNGA1):c.981A>G (p.Thr327=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2134825	NM_001379270.1(CNGA1):c.8A>G (p.Asn3Ser)	CNGA1, LOC101927157 (N7S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134241	NM_001379270.1(CNGA1):c.787del (p.Tyr263fs)	CNGA1, LOC101927157 (Y263fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2132594	NM_001379270.1(CNGA1):c.1941G>A (p.Met647Ile)	CNGA1, LOC101927157 (M647I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132076	NM_001379270.1(CNGA1):c.545+2T>C	CNGA1, LOC101927157	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2131365	NM_001379270.1(CNGA1):c.36del (p.Phe12fs)	CNGA1, LOC101927157 (F12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2131136	NM_001379270.1(CNGA1):c.545+13T>C	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129541	NM_001379270.1(CNGA1):c.924C>T (p.His308=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129443	NM_001379270.1(CNGA1):c.1396C>A (p.His466Asn)	CNGA1, LOC101927157 (H466N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126557	NM_001379270.1(CNGA1):c.1333G>A (p.Asp445Asn)	CNGA1, LOC101927157 (D445N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124042	NM_001379270.1(CNGA1):c.-2C>T	CNGA1, LOC101927157 (S4F)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2122272	NM_001379270.1(CNGA1):c.329G>A (p.Ser110Asn)	CNGA1, LOC101927157 (S110N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118787	NM_001379270.1(CNGA1):c.712T>C (p.Ser238Pro)	CNGA1, LOC101927157 (S242P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118786	NM_001379270.1(CNGA1):c.1635del (p.Asn547fs)	CNGA1, LOC101927157 (N547fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2118498	NM_001379270.1(CNGA1):c.664C>T (p.Gln222Ter)	CNGA1, LOC101927157 (Q222* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2115312	NM_001379270.1(CNGA1):c.650del (p.Thr217fs)	CNGA1, LOC101927157 (T217fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2114474	NM_001379270.1(CNGA1):c.2051A>T (p.Asp684Val)	CNGA1, LOC101927157 (D684V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113437	NM_001379270.1(CNGA1):c.1279G>A (p.Glu427Lys)	CNGA1, LOC101927157 (E427K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2113001	NM_001379270.1(CNGA1):c.785A>G (p.Asn262Ser)	CNGA1, LOC101927157 (N266S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2111305	NM_001379270.1(CNGA1):c.1166T>G (p.Val389Gly)	CNGA1, LOC101927157 (V393G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 49 +1 more	GUncertain significance
Select item 2110168	NM_001379270.1(CNGA1):c.107+7C>T	CNGA1, LOC101927157	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2106545	NM_001379270.1(CNGA1):c.1561G>A (p.Ala521Thr)	CNGA1, LOC101927157 (A521T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2106270	NM_001379270.1(CNGA1):c.1131T>C (p.Asp377=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2104315	NM_001379270.1(CNGA1):c.210A>C (p.Gly70=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102141	NM_001379270.1(CNGA1):c.1285A>T (p.Arg429Trp)	CNGA1, LOC101927157 (R433W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2100577	NM_001379270.1(CNGA1):c.1407A>C (p.Thr469=)	CNGA1, LOC101927157	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

<< First< Prev

Page of 5