ClinVar for MedGen (Select 462416) - ClinVar

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Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802203	NM_001297.5(CNGB1):c.2885T>G (p.Leu962Arg)	CNGB1 (L956R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 1432098	NM_001297.5(CNGB1):c.2210G>A (p.Arg737His)	CNGB1 (R731H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1426645	NM_001297.5(CNGB1):c.1676C>A (p.Thr559Lys)	CNGB1 (T553K +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +1 more	GUncertain significance
Select item 1375228	NM_001297.5(CNGB1):c.2902C>T (p.Arg968Trp)	CNGB1 (R968W +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1333519	NM_001297.5(CNGB1):c.2544del (p.Leu849fs)	CNGB1 (L843fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 45 +1 more	GPathogenic/Likely pathogenic
Select item 1322098	NM_001297.5(CNGB1):c.2775G>A (p.Trp925Ter)	CNGB1 (W919* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 45 +1 more	GPathogenic
Select item 1217369	NM_001297.5(CNGB1):c.217+46G>A	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45	GBenign
Select item 1217368	NM_001297.5(CNGB1):c.838-36G>A	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45	GBenign
Select item 1217367	NM_001297.5(CNGB1):c.875-39C>T	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45	GBenign
Select item 1217366	NM_001297.5(CNGB1):c.1643+39C>G	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45	GBenign
Select item 1217365	NM_001297.5(CNGB1):c.1801+23T>C	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45	GBenign
Select item 1213980	NM_001297.5(CNGB1):c.2095G>A (p.Asp699Asn)	CNGB1 (D693N +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +1 more	GUncertain significance
Select item 1184809	GRCh38/hg38 16q21(chr16:57904875-57923272)x3	CNGB1, LOC130059126	Copy number gain	Retinitis pigmentosa 45	GUncertain significance
Select item 1177437	NM_001297.5(CNGB1):c.1492del (p.Ser498fs)	CNGB1 (S492fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 45	GPathogenic
Select item 1065759	NM_001297.5(CNGB1):c.2582del (p.Gln861fs)	CNGB1 (Q855fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 45	GLikely pathogenic
Select item 1065671	NM_001297.5(CNGB1):c.2634+2T>C	CNGB1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 45	GLikely pathogenic
Select item 1065670	NM_001297.5(CNGB1):c.2603dup (p.Val869fs)	CNGB1 (V863fs +1 more)	Duplication (frameshift variant)	Retinitis pigmentosa 45	GLikely pathogenic
Select item 1065658	NM_001297.5(CNGB1):c.2635-2A>T	CNGB1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 1053447	NM_001297.5(CNGB1):c.3G>A (p.Met1Ile)	CNGB1 (M1I)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa 45 +2 more	GUncertain significance
Select item 1048155	NM_001297.5(CNGB1):c.1658C>A (p.Ala553Glu)	CNGB1 (A547E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1029308	NM_001297.5(CNGB1):c.2543G>T (p.Gly848Val)	CNGB1 (G848V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 1009199	NM_001297.5(CNGB1):c.1699C>T (p.Arg567Trp)	CNGB1 (R561W +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +1 more	GUncertain significance
Select item 1000254	NM_001297.5(CNGB1):c.109G>A (p.Val37Met)	CNGB1 (V37M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +1 more	GConflicting classifications of pathogenicity
Select item 983084	NM_001297.5(CNGB1):c.1881C>A (p.Cys627Ter)	CNGB1 (C621* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 45	GLikely pathogenic
Select item 978970	NM_001297.5(CNGB1):c.2293C>T (p.Arg765Cys)	CNGB1 (R759C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 953517	NM_001297.5(CNGB1):c.2921T>G (p.Met974Arg)	CNGB1 (M968R +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +1 more	GConflicting classifications of pathogenicity
Select item 938522	NM_001297.5(CNGB1):c.595C>T (p.Arg199Cys)	CNGB1 (R199C +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 930651	NM_001297.5(CNGB1):c.1741A>G (p.Lys581Glu)	CNGB1 (K581E +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 930498	NM_001297.5(CNGB1):c.1418A>G (p.Asp473Gly)	CNGB1 (D473G +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 916719	NM_001297.5(CNGB1):c.2977-2del	CNGB1	Deletion (splice acceptor variant)	Retinitis pigmentosa 45	GLikely pathogenic
Select item 916718	NM_001297.5(CNGB1):c.973C>T (p.Gln325Ter)	CNGB1 (Q325* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 45	GLikely pathogenic
Select item 886099	NM_001297.5(CNGB1):c.3527C>T (p.Pro1176Leu)	CNGB1 (P1176L +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +2 more	GBenign/Likely benign
Select item 866991	NM_001297.5(CNGB1):c.3131_3149del (p.Ala1044fs)	CNGB1 (A1038fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866772	NM_001297.5(CNGB1):c.11G>A (p.Trp4Ter)	CNGB1 (W4*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 852025	NM_001297.5(CNGB1):c.1896C>A (p.Cys632Ter)	CNGB1 (C632* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +2 more	GPathogenic
Select item 848553	NM_001297.5(CNGB1):c.1654C>T (p.Arg552Cys)	CNGB1 (R546C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 843111	NM_001297.5(CNGB1):c.2662G>A (p.Ala888Thr)	CNGB1 (A888T +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 841809	NM_001297.5(CNGB1):c.1210-2A>G	CNGB1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 45 +1 more	GLikely pathogenic
Select item 812286	NM_001297.5(CNGB1):c.2284C>T (p.Arg762Cys)	CNGB1 (R756C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 811726	NM_001297.5(CNGB1):c.832G>C (p.Glu278Gln)	CNGB1 (E272Q +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GUncertain significance
Select item 811057	NM_001297.5(CNGB1):c.1122-18C>T	CNGB1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 810950	NM_001297.5(CNGB1):c.2958C>T (p.Asn986=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 803260	NM_001297.5(CNGB1):c.1958-1G>A	CNGB1	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 493186	NM_001297.5(CNGB1):c.838-4G>T	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45 +3 more	GConflicting classifications of pathogenicity
Select item 437976	NM_001297.5(CNGB1):c.413-1G>A	CNGB1	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 437972	NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)	CNGB1 (R762H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 425109	NM_001297.5(CNGB1):c.2794+1G>A	CNGB1	Single nucleotide variant (splice donor variant)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 420589	NM_001297.5(CNGB1):c.2508C>A (p.Tyr836Ter)	CNGB1 (Y836* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 420197	NM_001297.5(CNGB1):c.2762_2765del (p.Tyr921fs)	CNGB1 (Y921fs +1 more)	Deletion (frameshift variant)	Retinitis pigmentosa 45 +1 more	GPathogenic/Likely pathogenic
Select item 369953	NM_001297.5(CNGB1):c.2893-7G>A	CNGB1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 320112	NM_001297.5(CNGB1):c.232G>A (p.Ala78Thr)	CNGB1 (A78T)	Single nucleotide variant (missense variant)	CNGB1-related condition +4 more	GConflicting classifications of pathogenicity
Select item 320110	NM_001297.5(CNGB1):c.299G>A (p.Arg100His)	CNGB1 (R100H)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 320109	NM_001297.5(CNGB1):c.327C>T (p.Gly109=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 320108	NM_001297.5(CNGB1):c.412+8C>A	CNGB1	Single nucleotide variant (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 320099	NM_001297.5(CNGB1):c.1089GGA[6] (p.Glu371dup)	CNGB1	Microsatellite (inframe_insertion)	Retinitis Pigmentosa, Recessive +2 more	GConflicting classifications of pathogenicity
Select item 320080	NM_001297.5(CNGB1):c.2098C>T (p.Leu700Phe)	CNGB1 (L700F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320079	NM_001297.5(CNGB1):c.2193C>T (p.Asn731=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 45 +3 more	GBenign
Select item 320076	NM_001297.5(CNGB1):c.2501G>T (p.Arg834Leu)	CNGB1 (R834L +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45 +2 more	GUncertain significance
Select item 320073	NM_001297.5(CNGB1):c.2700G>A (p.Thr900=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 320059	NM_001297.5(CNGB1):c.3462+7T>C	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45 +2 more	GBenign
Select item 320057	NM_001297.5(CNGB1):c.3584C>G (p.Ser1195Cys)	CNGB1 (S1195C +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 280141	NM_001297.5(CNGB1):c.3150del (p.Phe1051fs)	CNGB1 (F1045fs +1 more)	Deletion (frameshift variant)	Retinal dystrophy +2 more	GPathogenic
Select item 257959	NM_001297.5(CNGB1):c.159+14C>T	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45 +3 more	GConflicting classifications of pathogenicity
Select item 236511	NM_001297.5(CNGB1):c.2544dup (p.Leu849fs)	CNGB1 (L849fs +1 more)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 235409	NM_001297.5(CNGB1):c.2854G>A (p.Val952Met)	CNGB1 (V952M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 209979	NM_001297.5(CNGB1):c.1589C>G (p.Pro530Arg)	CNGB1 (P530R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195865	NM_001297.5(CNGB1):c.2370-9C>T	CNGB1	Single nucleotide variant (intron variant)	CNGB1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 194827	NM_001297.5(CNGB1):c.1626C>T (p.Thr542=)	CNGB1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 194492	NM_001297.5(CNGB1):c.1122-15C>T	CNGB1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 194491	NM_001297.5(CNGB1):c.1204G>A (p.Asp402Asn)	CNGB1 (D402N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 166895	NM_001297.5(CNGB1):c.2635-10C>T	CNGB1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 166894	NM_001297.5(CNGB1):c.2664C>G (p.Ala888=)	CNGB1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 166891	NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)	CNGB1 (N986I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 143124	NM_001297.5(CNGB1):c.217+5G>C	CNGB1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 45 +1 more	GPathogenic/Likely pathogenic
Select item 93705	NM_001297.5(CNGB1):c.952C>T (p.Gln318Ter)	CNGB1 (Q318* +1 more)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 45 +2 more	GPathogenic
Select item 93698	NM_001297.5(CNGB1):c.2233C>A (p.Leu745Ile)	CNGB1 (L745I +1 more)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 93697	NM_001297.5(CNGB1):c.2218-12C>T	CNGB1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 93696	NM_001297.5(CNGB1):c.1479G>A (p.Pro493=)	CNGB1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 8898	NM_001297.5(CNGB1):c.3462+1G>A	CNGB1	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 45	GPathogenic
Select item 8897	NM_001297.5(CNGB1):c.2978G>T (p.Gly993Val)	CNGB1 (G993V +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 45	GPathogenic

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Items: 80