CYGB[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 771500	NM_134268.5(CYGB):c.567G>A (p.Gly189=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079335	NM_134268.5(CYGB):c.541C>T (p.Pro181Ser)	CYGB, PRCD (P181S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079334	NM_134268.5(CYGB):c.535A>G (p.Thr179Ala)	CYGB, PRCD (T179A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079333	NM_134268.5(CYGB):c.463C>T (p.Arg155Cys)	CYGB, PRCD (R155C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223298	NM_134268.5(CYGB):c.440C>T (p.Thr147Met)	CYGB, PRCD (T147M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777224	NM_134268.5(CYGB):c.390C>A (p.Val130=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3079332	NM_134268.5(CYGB):c.376A>T (p.Ile126Phe)	CYGB, PRCD (I126F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292530	NM_134268.5(CYGB):c.344T>C (p.Leu115Pro)	CYGB, PRCD (L115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079331	NM_134268.5(CYGB):c.319G>A (p.Ala107Thr)	CYGB, PRCD (A107T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204589	NM_134268.5(CYGB):c.302A>G (p.Lys101Arg)	CYGB, PRCD (K101R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2526115	NM_134268.5(CYGB):c.277G>A (p.Val93Met)	CYGB, PRCD (V93M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369437	NM_134268.5(CYGB):c.235C>T (p.Arg79Trp)	CYGB, PRCD (R79W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400299	NM_134268.5(CYGB):c.221G>A (p.Arg74Gln)	CYGB, PRCD (R74Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079328	NM_134268.5(CYGB):c.204T>A (p.Asp68Glu)	CYGB, PRCD (D68E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2207120	NM_134268.5(CYGB):c.44G>A (p.Arg15Gln)	CYGB, PRCD (R15Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2541368	NM_134268.5(CYGB):c.35G>T (p.Arg12Leu)	CYGB, PRCD (R12L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3079329	NM_134268.5(CYGB):c.24G>A (p.Met8Ile)	CYGB, PRCD (M8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2472621	NM_134268.5(CYGB):c.16G>A (p.Gly6Ser)	CYGB, PRCD (G6S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 890546	NM_001077620.3(PRCD):c.-94G>A	CYGB, PRCD	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 890547	NM_001077620.3(PRCD):c.-82T>C	CYGB, PRCD	Single nucleotide variant (5 prime UTR variant)	Retinitis pigmentosa	GUncertain significance
Select item 143095	NM_001077620.3(PRCD):c.2T>C (p.Met1Thr)	CYGB, PRCD (M1T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 1188	NM_001077620.3(PRCD):c.5G>A (p.Cys2Tyr)	CYGB, PRCD (C2Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 799512	NM_001077620.3(PRCD):c.12C>G (p.Thr4=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891110	NM_001077620.3(PRCD):c.13C>G (p.Leu5Val)	CYGB, PRCD (L5V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 2862048	NM_001077620.3(PRCD):c.15T>G (p.Leu5=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161528	NM_001077620.3(PRCD):c.18C>T (p.Phe6=)	PRCD, CYGB	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817349	NM_001077620.3(PRCD):c.19C>T (p.Leu7=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1432905	NM_001077620.3(PRCD):c.34G>A (p.Ala12Thr)	CYGB, PRCD (A12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1346439	NM_001077620.3(PRCD):c.46C>T (p.Arg16Cys)	CYGB, PRCD (R16C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072045	NM_001077620.3(PRCD):c.48C>T (p.Arg16=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 325472	NM_001077620.3(PRCD):c.49C>T (p.Arg17Cys)	PRCD, CYGB (R17C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 1060929	NM_001077620.3(PRCD):c.50G>A (p.Arg17His)	CYGB, PRCD (R17H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2792085	NM_001077620.3(PRCD):c.51C>A (p.Arg17=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 987020	NM_001077620.3(PRCD):c.52C>T (p.Arg18Ter)	CYGB, PRCD (R18*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 916443	NM_001077620.3(PRCD):c.53G>A (p.Arg18Gln)	CYGB, PRCD (R18Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1047492	NM_001077620.3(PRCD):c.55T>A (p.Phe19Ile)	CYGB, PRCD (F19I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 866216	NM_001077620.3(PRCD):c.61_64del (p.Asn21fs)	CYGB, PRCD (N21fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2988861	NM_001077620.3(PRCD):c.63C>T (p.Asn21=)	CYGB, PRCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2017004	NM_001077620.3(PRCD):c.64C>G (p.Arg22Gly)	CYGB, PRCD (R22G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1483483	NM_001077620.3(PRCD):c.65_66insTG (p.Val23fs)	CYGB, PRCD (V23fs)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 37041	NM_001077620.3(PRCD):c.64C>T (p.Arg22Ter)	CYGB, PRCD (R22*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic
Select item 848892	NM_001077620.3(PRCD):c.65G>A (p.Arg22Gln)	CYGB, PRCD (R22Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2050295	NM_001077620.3(PRCD):c.67G>C (p.Val23Leu)	PRCD, CYGB (V23L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388446	NM_001077620.3(PRCD):c.67G>T (p.Val23Phe)	CYGB, PRCD (V23F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379691	NM_001077620.3(PRCD):c.70C>T (p.Gln24Ter)	CYGB, PRCD (Q24*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 813201	NM_001077620.3(PRCD):c.73C>A (p.Pro25Thr)	CYGB, PRCD (P25T)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 2115565	NM_001077620.3(PRCD):c.74C>A (p.Pro25Gln)	CYGB, PRCD (P25Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 944910	NM_001077620.3(PRCD):c.74C>T (p.Pro25Leu)	CYGB, PRCD (P25L)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1343514	NM_001077620.3(PRCD):c.74+1G>A	CYGB, PRCD	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 1489841	NM_001077620.3(PRCD):c.74+5G>C	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2986744	NM_001077620.3(PRCD):c.74+8A>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2857920	NM_001077620.3(PRCD):c.74+13C>G	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2835956	NM_001077620.3(PRCD):c.74+14C>A	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 891111	NM_001077620.3(PRCD):c.74+14C>T	CYGB, PRCD	Single nucleotide variant (intron variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 2102745	NM_001077620.3(PRCD):c.74+15G>A	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2859589	NM_001077620.3(PRCD):c.74+16G>C	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974239	NM_001077620.3(PRCD):c.74+18C>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327441	NM_001077620.3(PRCD):c.74+36C>G	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 2822874	NM_001077620.3(PRCD):c.75-20C>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2011136	NM_001077620.3(PRCD):c.75-19C>G	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2858554	NM_001077620.3(PRCD):c.75-14C>G	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 325473	NM_001077620.3(PRCD):c.75-10C>A	CYGB, PRCD	Single nucleotide variant (intron variant)	Retinitis pigmentosa	GUncertain significance
Select item 2765740	NM_001077620.3(PRCD):c.75-9C>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2708762	NM_001077620.3(PRCD):c.75-7C>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 325474	NM_001077620.3(PRCD):c.75-3C>G	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 1976161	NM_001077620.3(PRCD):c.75-2A>C	CYGB, PRCD	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2978856	NM_001077620.3(PRCD):c.84C>T (p.Ser28=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 950646	NM_001077620.3(PRCD):c.85G>A (p.Asp29Asn)	CYGB, PRCD (D29N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 891112	NM_001077620.3(PRCD):c.85G>C (p.Asp29His)	CYGB, PRCD (D29H)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 1550926	NM_001077620.3(PRCD):c.87C>T (p.Asp29=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1400851	NM_001077620.3(PRCD):c.88G>A (p.Val30Met)	CYGB, PRCD (V30M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1929516	NM_001077620.3(PRCD):c.102_111dup (p.Ser38Ter)	CYGB, PRCD (S38*)	Duplication (nonsense +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 1427185	NM_001077620.3(PRCD):c.102_111del (p.Arg35fs)	CYGB, PRCD (R35fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 1522543	NM_001077620.3(PRCD):c.95G>T (p.Gly32Val)	CYGB, PRCD (G32V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2855562	NM_001077620.3(PRCD):c.96G>C (p.Gly32=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1131355	NM_001077620.3(PRCD):c.96G>T (p.Gly32=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2122212	NM_001077620.3(PRCD):c.104G>T (p.Arg35Met)	CYGB, PRCD (R35M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 963465	NM_001077620.3(PRCD):c.104G>A (p.Arg35Lys)	CYGB, PRCD (R35K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2695899	NM_001077620.3(PRCD):c.105G>A (p.Arg35=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980001	NM_001077620.3(PRCD):c.107G>A (p.Gly36Asp)	PRCD, CYGB (G36D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1914557	NM_001077620.3(PRCD):c.110G>A (p.Ser37Asn)	CYGB, PRCD (S37N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 891113	NM_001077620.3(PRCD):c.114C>T (p.Ser38=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 3218309	NM_001077620.3(PRCD):c.119A>T (p.Asp40Val)	CYGB, PRCD (D40V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2537153	NM_001077620.3(PRCD):c.122C>T (p.Ala41Val)	CYGB, PRCD (A41V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2806641	NM_001077620.3(PRCD):c.123G>C (p.Ala41=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1127459	NM_001077620.3(PRCD):c.123G>A (p.Ala41=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1090524	NM_001077620.3(PRCD):c.123G>T (p.Ala41=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2973144	NM_001077620.3(PRCD):c.126C>T (p.Asp42=)	CYGB, PRCD	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2528416	NM_001077620.3(PRCD):c.126C>A (p.Asp42Glu)	CYGB, PRCD (D42E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2050939	NM_001077620.3(PRCD):c.132G>T (p.Gln44His)	CYGB, PRCD (Q44H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1362646	NM_001077620.3(PRCD):c.141C>T (p.Gly47=)	PRCD, CYGB	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 943062	NM_001077620.3(PRCD):c.143G>A (p.Arg48Lys)	CYGB, PRCD (R48K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1184568	NM_001077620.3(PRCD):c.143+1G>A	CYGB, PRCD	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 36	GPathogenic
Select item 849356	NM_001077620.3(PRCD):c.143+3A>G	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985066	NM_001077620.3(PRCD):c.143+10G>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989432	NM_001077620.3(PRCD):c.143+12G>A	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1961596	NM_001077620.3(PRCD):c.143+16G>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2126487	NM_001077620.3(PRCD):c.143+19C>T	CYGB, PRCD	Single nucleotide variant (intron variant)	not provided	GLikely benign

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