5146[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58776	GRCh38/hg38 10q23.33-24.2(chr10:92626680-97755102)x1	LOC105378448, LOC107195252 +245 more	Copy number loss	See cases	GPathogenic
Select item 148854	GRCh38/hg38 10q23.33-24.1(chr10:92643919-95471137)x1	ACSM6, CEP55 +105 more	Copy number loss	See cases	GPathogenic
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 301614	NM_006204.4(PDE6C):c.-21C>T	PDE6C	Single nucleotide variant (5 prime UTR variant)	Achromatopsia +2 more	GUncertain significance
Select item 877341	NM_006204.4(PDE6C):c.-7C>A	PDE6C	Single nucleotide variant (5 prime UTR variant)	Achromatopsia +1 more	GUncertain significance
Select item 2080671	NM_006204.4(PDE6C):c.20T>C (p.Val7Ala)	PDE6C (V7A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1534721	NM_006204.4(PDE6C):c.24C>T (p.Ala8=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1093520	NM_006204.4(PDE6C):c.24C>G (p.Ala8=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 850830	NM_006204.4(PDE6C):c.25G>A (p.Val9Met)	PDE6C (V9M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468972	NM_006204.4(PDE6C):c.33A>T (p.Lys11Asn)	PDE6C (K11N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1617489	NM_006204.4(PDE6C):c.36C>T (p.Tyr12=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 959344	NM_006204.4(PDE6C):c.36C>A (p.Tyr12Ter)	PDE6C (Y12*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1391316	NM_006204.4(PDE6C):c.45_46delinsAC (p.Asn16His)	PDE6C (N16H)	Indel (missense variant)	not provided	GUncertain significance
Select item 2512419	NM_006204.4(PDE6C):c.46A>C (p.Asn16His)	PDE6C (N16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1934201	NM_006204.4(PDE6C):c.48C>A (p.Asn16Lys)	PDE6C (N16K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1915873	NM_006204.4(PDE6C):c.57T>G (p.Phe19Leu)	PDE6C (F19L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1507062	NM_006204.4(PDE6C):c.77G>C (p.Arg26Thr)	PDE6C (R26T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487693	NM_006204.4(PDE6C):c.78del (p.Lys27fs)	PDE6C (K27fs)	Deletion (frameshift variant)	Achromatopsia	GPathogenic
Select item 2776235	NM_006204.4(PDE6C):c.85C>A (p.Arg29=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 8763	NM_006204.4(PDE6C):c.85C>T (p.Arg29Trp)	PDE6C (R29W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 546648	NM_006204.4(PDE6C):c.86G>A (p.Arg29Gln)	PDE6C (R29Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133644	NM_006204.4(PDE6C):c.88G>A (p.Val30Met)	PDE6C (V30M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2087307	NM_006204.4(PDE6C):c.93G>T (p.Glu31Asp)	PDE6C (E31D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301615	NM_006204.4(PDE6C):c.101G>A (p.Gly34Glu)	PDE6C (G34E)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +2 more	GUncertain significance
Select item 1444831	NM_006204.4(PDE6C):c.105A>T (p.Glu35Asp)	PDE6C (E35D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1928640	NM_006204.4(PDE6C):c.108C>A (p.Ile36=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301616	NM_006204.4(PDE6C):c.124G>A (p.Val42Met)	PDE6C (V42M)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1021095	NM_006204.4(PDE6C):c.130G>T (p.Val44Phe)	PDE6C (V44F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1353041	NM_006204.4(PDE6C):c.144G>T (p.Met48Ile)	PDE6C (M48I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1543710	NM_006204.4(PDE6C):c.147C>A (p.Ser49=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001792	NM_006204.4(PDE6C):c.160A>C (p.Thr54Pro)	PDE6C (T54P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1993638	NM_006204.4(PDE6C):c.179C>A (p.Ala60Asp)	PDE6C (A60D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1424792	NM_006204.4(PDE6C):c.185G>T (p.Cys62Phe)	PDE6C (C62F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477890	NM_006204.4(PDE6C):c.193C>G (p.Leu65Val)	PDE6C (L65V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 259944	NM_006204.4(PDE6C):c.203C>T (p.Thr68Ile)	PDE6C (T68I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1656937	NM_006204.4(PDE6C):c.204C>T (p.Thr68=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 193332	NM_006204.4(PDE6C):c.205G>A (p.Val69Met)	PDE6C (V69M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006604	NM_006204.4(PDE6C):c.207G>C (p.Val69=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 487690	NM_006204.4(PDE6C):c.211G>T (p.Glu71Ter)	PDE6C (E71*)	Single nucleotide variant (nonsense)	Achromatopsia	GPathogenic
Select item 1995570	NM_006204.4(PDE6C):c.221del (p.Gly74fs)	PDE6C (G74fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2123340	NM_006204.4(PDE6C):c.218G>A (p.Gly73Glu)	PDE6C (G73E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2043620	NM_006204.4(PDE6C):c.219G>C (p.Gly73=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 497465	NM_006204.4(PDE6C):c.219G>T (p.Gly73=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1400191	NM_006204.4(PDE6C):c.221G>T (p.Gly74Val)	PDE6C (G74V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388433	NM_006204.4(PDE6C):c.229G>C (p.Glu77Gln)	PDE6C (E77Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899590	NM_006204.4(PDE6C):c.231G>A (p.Glu77=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1910404	NM_006204.4(PDE6C):c.234G>A (p.Gln78=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 963797	NM_006204.4(PDE6C):c.238G>A (p.Val80Ile)	PDE6C (V80I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844236	NM_006204.4(PDE6C):c.240T>C (p.Val80=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503530	NM_006204.4(PDE6C):c.247G>A (p.Ala83Thr)	PDE6C (A83T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 866137	NM_006204.4(PDE6C):c.251T>C (p.Leu84Pro)	PDE6C (L84P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 301617	NM_006204.4(PDE6C):c.252G>T (p.Leu84=)	PDE6C	Single nucleotide variant (synonymous variant)	Cone dystrophy 4 +2 more	GConflicting classifications of pathogenicity
Select item 95346	NM_006204.4(PDE6C):c.252G>A (p.Leu84=)	PDE6C	Single nucleotide variant (synonymous variant)	Cone dystrophy 4 +3 more	GBenign
Select item 8765	NM_006204.4(PDE6C):c.256_257dup (p.Leu87fs)	PDE6C (L87fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1018316	NM_006204.4(PDE6C):c.254A>C (p.Gln85Pro)	PDE6C (Q85P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803911	NM_006204.4(PDE6C):c.258G>A (p.Arg86=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1392093	NM_006204.4(PDE6C):c.265C>T (p.His89Tyr)	PDE6C (H89Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1161391	NM_006204.4(PDE6C):c.267C>T (p.His89=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614733	NM_006204.4(PDE6C):c.271C>A (p.Leu91Ile)	PDE6C (L91I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2119826	NM_006204.4(PDE6C):c.273C>T (p.Leu91=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1090537	NM_006204.4(PDE6C):c.279T>G (p.Ala93=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 95347	NM_006204.4(PDE6C):c.282C>T (p.Asp94=)	PDE6C	Single nucleotide variant (synonymous variant)	Cone dystrophy 4 +3 more	GBenign
Select item 878955	NM_006204.4(PDE6C):c.283C>T (p.Arg95Cys)	PDE6C (R95C)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GUncertain significance
Select item 1917420	NM_006204.4(PDE6C):c.284G>A (p.Arg95His)	PDE6C (R95H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121953	NM_006204.4(PDE6C):c.295T>C (p.Phe99Leu)	PDE6C (F99L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1951941	NM_006204.4(PDE6C):c.299T>C (p.Leu100Pro)	PDE6C (L100P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 752278	NM_006204.4(PDE6C):c.300G>T (p.Leu100=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1043901	NM_006204.4(PDE6C):c.304C>G (p.Arg102Gly)	PDE6C (R102G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 487696	NM_006204.4(PDE6C):c.304C>T (p.Arg102Trp)	PDE6C (R102W)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +1 more	GUncertain significance
Select item 1458687	NM_006204.4(PDE6C):c.305G>A (p.Arg102Gln)	PDE6C (R102Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 878956	NM_006204.4(PDE6C):c.306G>A (p.Arg102=)	PDE6C	Single nucleotide variant (synonymous variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity
Select item 1577652	NM_006204.4(PDE6C):c.309C>G (p.Ser103=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735456	NM_006204.4(PDE6C):c.310C>T (p.Arg104Trp)	PDE6C (R104W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 964847	NM_006204.4(PDE6C):c.311G>A (p.Arg104Gln)	PDE6C (R104Q)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1167612	NM_006204.4(PDE6C):c.315C>T (p.Asn105=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 301618	NM_006204.4(PDE6C):c.316G>A (p.Gly106Ser)	PDE6C (G106S)	Single nucleotide variant (missense variant)	Achromatopsia +3 more	GUncertain significance
Select item 1653413	NM_006204.4(PDE6C):c.318C>A (p.Gly106=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1948371	NM_006204.4(PDE6C):c.319A>C (p.Ile107Leu)	PDE6C (I107L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 964129	NM_006204.4(PDE6C):c.321A>G (p.Ile107Met)	PDE6C (I107M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1480449	NM_006204.4(PDE6C):c.323C>T (p.Pro108Leu)	PDE6C (P108L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1917903	NM_006204.4(PDE6C):c.326A>T (p.Glu109Val)	PDE6C (E109V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1493547	NM_006204.4(PDE6C):c.339G>T (p.Arg113Ser)	PDE6C (R113S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2019627	NM_006204.4(PDE6C):c.351C>T (p.Val117=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 301619	NM_006204.4(PDE6C):c.356C>T (p.Pro119Leu)	PDE6C (P119L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2015608	NM_006204.4(PDE6C):c.372G>C (p.Glu124Asp)	PDE6C (E124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1042670	NM_006204.4(PDE6C):c.372G>T (p.Glu124Asp)	PDE6C (E124D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867651	NM_006204.4(PDE6C):c.381G>C (p.Leu127=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2029402	NM_006204.4(PDE6C):c.385G>C (p.Gly129Arg)	PDE6C (G129R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1463256	NM_006204.4(PDE6C):c.392A>C (p.Asp131Ala)	PDE6C (D131A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1044871	NM_006204.4(PDE6C):c.396A>C (p.Lys132Asn)	PDE6C (K132N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2007759	NM_006204.4(PDE6C):c.405_406del (p.Phe136fs)	PDE6C (F136fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1607762	NM_006204.4(PDE6C):c.411A>G (p.Pro137=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 880176	NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)	PDE6C (L138S)	Single nucleotide variant (missense variant)	Cone dystrophy 4 +3 more	GConflicting classifications of pathogenicity
Select item 1919544	NM_006204.4(PDE6C):c.427G>C (p.Val143Leu)	PDE6C (V143L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 841157	NM_006204.4(PDE6C):c.430G>T (p.Gly144Cys)	PDE6C (G144C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 950645	NM_006204.4(PDE6C):c.431G>C (p.Gly144Ala)	PDE6C (G144A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 829826	NM_006204.4(PDE6C):c.435G>A (p.Trp145Ter)	PDE6C (W145*)	Single nucleotide variant (nonsense)	Cone dystrophy 4	GPathogenic
Select item 1022629	NM_006204.4(PDE6C):c.436G>A (p.Ala146Thr)	PDE6C (A146T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 934921	NM_006204.4(PDE6C):c.442C>T (p.His148Tyr)	PDE6C (H148Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 301620	NM_006204.4(PDE6C):c.446C>T (p.Thr149Met)	PDE6C (T149M)	Single nucleotide variant (missense variant)	Achromatopsia +2 more	GConflicting classifications of pathogenicity

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