ClinVar for Gene (Select 5146) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3336624	NM_006204.4(PDE6C):c.1483-1G>A	PDE6C	Single nucleotide variant (splice acceptor variant)	Cone dystrophy 4	GPathogenic
Select item 3305415	NM_006204.4(PDE6C):c.964G>T (p.Asp322Tyr)	PDE6C (D322Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305414	NM_006204.4(PDE6C):c.2285C>T (p.Pro762Leu)	PDE6C (P762L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3305412	NM_006204.4(PDE6C):c.692A>G (p.Tyr231Cys)	PDE6C (Y231C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244974	NC_000010.10:g.(?_95405697)_(95405824_?)del	PDE6C	Deletion	not provided	GPathogenic
Select item 3210772	NM_006204.4(PDE6C):c.1295C>G (p.Ser432Cys)	PDE6C (S432C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3210771	NM_006204.4(PDE6C):c.1139C>T (p.Thr380Ile)	PDE6C (T380I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063183	GRCh37/hg19 10q23.33-24.2(chr10:94283369-101820913)x1	ABCC2, ACSM6 +74 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063132	GRCh37/hg19 10q23.31-24.2(chr10:90796994-100067505)x1	ACSM6, ALDH18A1 +83 more	Copy number loss	not specified	GPathogenic
Select item 3019116	NM_006204.4(PDE6C):c.1482+1G>T	PDE6C	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 3010993	NM_006204.4(PDE6C):c.723+8G>A	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3008155	NM_006204.4(PDE6C):c.559G>A (p.Gly187Ser)	PDE6C (G187S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004045	NM_006204.4(PDE6C):c.519G>A (p.Gly173=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3000020	NM_006204.4(PDE6C):c.510G>A (p.Lys170=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998907	NM_006204.4(PDE6C):c.481-9C>T	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2998763	NM_006204.4(PDE6C):c.474G>A (p.Val158=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2995075	NM_006204.4(PDE6C):c.465C>T (p.Val155=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2983480	NM_006204.4(PDE6C):c.1434T>A (p.Asn478Lys)	PDE6C (N478K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966966	NM_006204.4(PDE6C):c.462T>C (p.Asn154=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964900	NM_006204.4(PDE6C):c.1551A>G (p.Thr517=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2963190	NM_006204.4(PDE6C):c.898G>A (p.Glu300Lys)	PDE6C (E300K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958812	NM_006204.4(PDE6C):c.940-14TCTT[2]	PDE6C	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2920636	NM_006204.4(PDE6C):c.548C>A (p.Pro183Gln)	PDE6C (P183Q)	Single nucleotide variant (missense variant)	Achromatopsia	GLikely pathogenic
Select item 2920635	NM_006204.4(PDE6C):c.1188_1191del (p.Glu397fs)	PDE6C (E397fs)	Microsatellite (frameshift variant)	Cone dystrophy 4	GLikely pathogenic
Select item 2879413	NM_006204.4(PDE6C):c.1830T>C (p.Asn610=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876833	NM_006204.4(PDE6C):c.1815C>T (p.Asp605=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867651	NM_006204.4(PDE6C):c.381G>C (p.Leu127=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867294	NM_006204.4(PDE6C):c.1330A>G (p.Lys444Glu)	PDE6C (K444E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857078	NM_006204.4(PDE6C):c.634-15C>T	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844236	NM_006204.4(PDE6C):c.240T>C (p.Val80=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840067	NM_006204.4(PDE6C):c.1862T>C (p.Leu621Ser)	PDE6C (L621S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838323	NM_006204.4(PDE6C):c.1848-15T>C	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2827525	NM_006204.4(PDE6C):c.1605G>A (p.Val535=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2826560	NM_006204.4(PDE6C):c.2368-6T>A	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819710	NM_006204.4(PDE6C):c.2424C>T (p.Asn808=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818024	NM_006204.4(PDE6C):c.2448T>C (p.Ala816=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2814524	NM_006204.4(PDE6C):c.1269+7G>T	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2803911	NM_006204.4(PDE6C):c.258G>A (p.Arg86=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2803341	NM_006204.4(PDE6C):c.1806T>C (p.His602=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802033	NM_006204.4(PDE6C):c.1688A>G (p.Asn563Ser)	PDE6C (N563S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2793934	NM_006204.4(PDE6C):c.2036+8C>T	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776235	NM_006204.4(PDE6C):c.85C>A (p.Arg29=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772749	NM_006204.4(PDE6C):c.930T>G (p.Pro310=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2759119	NM_006204.4(PDE6C):c.2037-5T>C	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2752083	NM_006204.4(PDE6C):c.1232G>T (p.Gly411Val)	PDE6C (G411V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2684613	GRCh37/hg19 10q23.32-23.33(chr10:93788061-96452666)x3	BTAF1, CEP55 +20 more	Copy number gain	not provided	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2628029	NM_006204.4(PDE6C):c.2368-2A>T	PDE6C	Single nucleotide variant (splice acceptor variant)	Isolated macular dystrophy	GPathogenic
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 2577524	NM_006204.4(PDE6C):c.1295C>T (p.Ser432Phe)	PDE6C (S432F)	Single nucleotide variant (missense variant)	Cone dystrophy	GUncertain significance
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2572553	NM_006204.4(PDE6C):c.1336G>T (p.Glu446Ter)	PDE6C (E446*)	Single nucleotide variant (nonsense)	Cone dystrophy 4	GPathogenic/Likely pathogenic
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 2500896	NM_006204.4(PDE6C):c.1413+3A>T	PDE6C	Single nucleotide variant (intron variant)	Cone dystrophy 4	GUncertain significance
Select item 2446762	GRCh37/hg19 10q23.32-24.1(chr10:93281410-97596360)x1	ACSM6, ALDH18A1 +33 more	Copy number loss	See cases	GPathogenic
Select item 2425525	NC_000010.10:g.(?_95422297)_(95425175_?)dup	PDE6C	Duplication	not provided	GUncertain significance
Select item 2425524	NC_000010.10:g.(?_95418638)_(95418944_?)dup	PDE6C	Duplication	not provided	GLikely pathogenic
Select item 2425523	NC_000010.10:g.(?_95361588)_(95425175_?)del	PDE6C	Deletion	not provided	GPathogenic
Select item 2412714	NM_006204.4(PDE6C):c.2053del (p.Gln685fs)	PDE6C (Q685fs)	Deletion (frameshift variant)	Cone dystrophy 4	GLikely pathogenic
Select item 2336230	NM_006204.4(PDE6C):c.776G>A (p.Arg259Gln)	PDE6C (R259Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2326574	NM_006204.4(PDE6C):c.2270A>T (p.Gln757Leu)	PDE6C (Q757L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316102	NM_006204.4(PDE6C):c.1836G>C (p.Leu612Phe)	PDE6C (L612F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2269656	NM_006204.4(PDE6C):c.1781C>T (p.Ala594Val)	PDE6C (A594V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2187812	NM_006204.4(PDE6C):c.1321A>G (p.Lys441Glu)	PDE6C (K441E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186803	NM_006204.4(PDE6C):c.1979C>T (p.Thr660Ile)	PDE6C (T660I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2174379	NM_006204.4(PDE6C):c.1401T>C (p.Ile467=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136920	NM_006204.4(PDE6C):c.1004+1G>A	PDE6C	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 2135606	NM_006204.4(PDE6C):c.909T>C (p.Pro303=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135512	NM_006204.4(PDE6C):c.2379G>A (p.Arg793=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2133879	NM_006204.4(PDE6C):c.801_804del (p.Val268fs)	PDE6C (V268fs)	Deletion (frameshift variant)	not provided	GPathogenic
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 2133523	NM_006204.4(PDE6C):c.1959A>G (p.Leu653=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2132087	NM_006204.4(PDE6C):c.641C>T (p.Ser214Phe)	PDE6C (S214F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2131054	NM_006204.4(PDE6C):c.2519-9T>C	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130467	NM_006204.4(PDE6C):c.1004+15G>A	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130012	NM_006204.4(PDE6C):c.481-7C>G	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2129456	NM_006204.4(PDE6C):c.1436T>C (p.Val479Ala)	PDE6C (V479A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129405	NM_006204.4(PDE6C):c.2024C>T (p.Ala675Val)	PDE6C (A675V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2126746	NM_006204.4(PDE6C):c.1780G>C (p.Ala594Pro)	PDE6C (A594P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124925	NM_006204.4(PDE6C):c.1334T>C (p.Leu445Pro)	PDE6C (L445P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2121954	NM_006204.4(PDE6C):c.2036+1G>C	PDE6C	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2121420	NM_006204.4(PDE6C):c.1783A>T (p.Met595Leu)	PDE6C (M595L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2119906	NM_006204.4(PDE6C):c.1756del (p.Tyr586fs)	PDE6C (Y586fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2119826	NM_006204.4(PDE6C):c.273C>T (p.Leu91=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117102	NM_006204.4(PDE6C):c.1577T>A (p.Ile526Lys)	PDE6C (I526K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2116444	NM_006204.4(PDE6C):c.1293del (p.Trp431fs)	PDE6C (W431fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2115727	NM_006204.4(PDE6C):c.1485A>G (p.Lys495=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2115649	NM_006204.4(PDE6C):c.652A>G (p.Asn218Asp)	PDE6C (N218D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115523	NM_006204.4(PDE6C):c.1692G>T (p.Trp564Cys)	PDE6C (W564C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2114022	NM_006204.4(PDE6C):c.699C>T (p.Tyr233=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2113921	NM_006204.4(PDE6C):c.2209-16C>T	PDE6C	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2113004	NM_006204.4(PDE6C):c.1824C>T (p.Gly608=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2111685	NM_006204.4(PDE6C):c.1482+2T>G	PDE6C	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2111657	NM_006204.4(PDE6C):c.2037-1G>C	PDE6C	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2111229	NM_006204.4(PDE6C):c.1074C>T (p.Ile358=)	PDE6C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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