ClinVar for Gene (Select 134359) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3308214	NM_001099271.2(POC5):c.1419A>T (p.Arg473Ser)	POC5 (R448S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3308212	NM_001099271.2(POC5):c.146C>T (p.Ser49Leu)	POC5 (S49L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3246465	NC_000005.9:g.(?_74970260)_(74990676_?)dup	POC5	Duplication	not provided	GUncertain significance
Select item 3216149	NM_001099271.2(POC5):c.824A>G (p.Tyr275Cys)	POC5 (Y275C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216148	NM_001099271.2(POC5):c.58G>A (p.Gly20Ser)	POC5 (G20S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216147	NM_001099271.2(POC5):c.454T>C (p.Ser152Pro)	POC5 (S127P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216146	NM_001099271.2(POC5):c.313T>G (p.Ser105Ala)	POC5 (S105A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216145	NM_001099271.2(POC5):c.1621C>T (p.Arg541Trp)	POC5 (R516W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3216144	NM_001099271.2(POC5):c.115A>G (p.Ile39Val)	POC5 (I39V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3019335	NM_001099271.2(POC5):c.994A>G (p.Asn332Asp)	POC5 (N307D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3015969	NM_001099271.2(POC5):c.1333T>G (p.Ser445Ala)	POC5 (S420A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013887	NM_001099271.2(POC5):c.224-10T>C	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011496	NM_001099271.2(POC5):c.1538C>T (p.Pro513Leu)	POC5 (P488L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001950	NM_001099271.2(POC5):c.1320T>C (p.Ser440=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2999650	NM_001099271.2(POC5):c.975+15C>T	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997722	NM_001099271.2(POC5):c.778G>A (p.Val260Ile)	POC5 (V260I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994207	NM_001099271.2(POC5):c.84+11A>G	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992992	NM_001099271.2(POC5):c.1225C>A (p.Pro409Thr)	POC5 (P409T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2990946	NM_001099271.2(POC5):c.1350C>T (p.His450=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2990449	NM_001099271.2(POC5):c.308-17A>G	POC5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2989154	NM_001099271.2(POC5):c.635A>G (p.Asn212Ser)	POC5 (N187S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2986465	NM_001099271.2(POC5):c.1408-9del	POC5	Deletion (intron variant)	not provided	GBenign
Select item 2983079	NM_001099271.2(POC5):c.178C>T (p.Pro60Ser)	POC5 (P35S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975207	NM_001099271.2(POC5):c.106_107inv (p.His36Cys)	POC5 (H11C +1 more)	Inversion (missense variant)	not provided	GUncertain significance
Select item 2970828	NM_001099271.2(POC5):c.244G>T (p.Glu82Ter)	POC5 (E57* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2963602	NM_001099271.2(POC5):c.441C>T (p.Ser147=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2958889	NM_001099271.2(POC5):c.1537C>T (p.Pro513Ser)	POC5 (P488S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902959	NM_001099271.2(POC5):c.737T>C (p.Ile246Thr)	POC5 (I221T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2900509	NM_001099271.2(POC5):c.487C>T (p.Leu163Phe)	POC5 (L138F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2896130	NM_001099271.2(POC5):c.1287G>A (p.Ala429=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2885851	NM_001099271.2(POC5):c.415A>G (p.Thr139Ala)	POC5 (T114A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876661	NM_001099271.2(POC5):c.793G>C (p.Asp265His)	POC5 (D265H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2869377	NM_001099271.2(POC5):c.1214C>G (p.Ala405Gly)	POC5 (A380G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2858583	NM_001099271.2(POC5):c.1457_1459dup (p.Ile486_Thr487insIle)	POC5	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2845186	NM_001099271.2(POC5):c.698C>A (p.Ser233Tyr)	POC5 (S233Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2842482	NM_001099271.2(POC5):c.1436A>C (p.Gln479Pro)	POC5 (Q454P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835554	NM_001099271.2(POC5):c.975+17G>A	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2831320	NM_001099271.2(POC5):c.1388C>G (p.Thr463Ser)	POC5 (T463S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2820809	NM_001099271.2(POC5):c.690+14T>C	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819486	NM_001099271.2(POC5):c.1482T>C (p.Cys494=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812583	NM_001099271.2(POC5):c.1269C>A (p.Ala423=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810224	NM_001099271.2(POC5):c.444T>C (p.Asp148=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809790	NM_001099271.2(POC5):c.975+13T>C	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788730	NM_001099271.2(POC5):c.1014A>T (p.Gln338His)	POC5 (Q313H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783101	NM_001099271.2(POC5):c.673A>T (p.Ile225Phe)	POC5 (I200F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776449	NM_001099271.2(POC5):c.20A>G (p.Lys7Arg)	POC5 (K7R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2773194	NM_001099271.2(POC5):c.796-4T>C	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770816	NM_001099271.2(POC5):c.1408-8C>G	POC5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2770329	NM_001099271.2(POC5):c.633C>G (p.Ile211Met)	POC5 (I211M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2768560	NM_001099271.2(POC5):c.674T>A (p.Ile225Asn)	POC5 (I200N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750531	NM_001099271.2(POC5):c.1307C>A (p.Ala436Asp)	POC5 (A411D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748240	NM_001099271.2(POC5):c.770T>C (p.Ile257Thr)	POC5 (I257T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747500	NM_001099271.2(POC5):c.1023A>C (p.Gln341His)	POC5 (Q316H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2745500	NM_001099271.2(POC5):c.813A>C (p.Leu271=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745185	NM_001099271.2(POC5):c.351C>A (p.Val117=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2739308	NM_001099271.2(POC5):c.1727A>G (p.Ter576=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735877	NM_001099271.2(POC5):c.1144A>C (p.Asn382His)	POC5 (N357H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2715812	NM_001099271.2(POC5):c.528T>C (p.Ser176=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713426	NM_001099271.2(POC5):c.657A>G (p.Lys219=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713290	NM_001099271.2(POC5):c.13GAG[1] (p.Glu6del)	POC5 (E6del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2711873	NM_001099271.2(POC5):c.745A>T (p.Met249Leu)	POC5 (M224L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2704879	NM_001099271.2(POC5):c.268G>A (p.Gly90Arg)	POC5 (G90R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700724	NM_001099271.2(POC5):c.233C>G (p.Ser78Cys)	POC5 (S78C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2700463	NM_001099271.2(POC5):c.337C>A (p.Pro113Thr)	POC5 (P88T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2699946	NM_001099271.2(POC5):c.1570C>T (p.His524Tyr)	POC5 (H499Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2693320	NM_001099271.2(POC5):c.119T>C (p.Val40Ala)	POC5 (V15A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2655545	NM_001099271.2(POC5):c.1263A>G (p.Pro421=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2593408	NM_001099271.2(POC5):c.427G>A (p.Glu143Lys)	POC5 (E143K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542707	NM_001099271.2(POC5):c.320T>C (p.Val107Ala)	POC5 (V107A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523608	NM_001099271.2(POC5):c.885G>C (p.Gln295His)	POC5 (Q270H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2516130	NM_001099271.2(POC5):c.28C>T (p.Leu10Phe)	POC5 (L10F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423695	NC_000005.9:g.(?_74970260)_(74990676_?)del	POC5	Deletion	not provided	GUncertain significance
Select item 2423200	NC_000005.9:g.(?_73980960)_(75008762_?)dup	ANKDD1B, ANKRD31 +9 more	Duplication	not provided	GUncertain significance
Select item 2420058	NM_001099271.2(POC5):c.23A>G (p.Tyr8Cys)	POC5 (Y8C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2419524	NM_001099271.2(POC5):c.1139C>T (p.Ser380Phe)	POC5 (S355F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2416418	NM_001099271.2(POC5):c.1310C>T (p.Ser437Leu)	POC5 (S412L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2415533	NM_001099271.2(POC5):c.1616A>G (p.Tyr539Cys)	POC5 (Y514C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413772	NM_001099271.2(POC5):c.875T>C (p.Val292Ala)	POC5 (V267A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2379696	NM_001099271.2(POC5):c.707C>T (p.Ser236Phe)	POC5 (S211F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373845	NM_001099271.2(POC5):c.866G>A (p.Arg289His)	POC5 (R264H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2342825	NM_001099271.2(POC5):c.106C>T (p.His36Tyr)	POC5 (H11Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338118	NM_001099271.2(POC5):c.304G>C (p.Asp102His)	POC5 (D77H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2316251	NM_001099271.2(POC5):c.505G>A (p.Gly169Ser)	POC5 (G144S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311816	NM_001099271.2(POC5):c.110A>T (p.Tyr37Phe)	POC5 (Y37F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278624	NM_001099271.2(POC5):c.1198C>A (p.His400Asn)	POC5 (H375N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2197776	NM_001099271.2(POC5):c.871G>A (p.Val291Ile)	POC5 (V266I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2194258	NM_001099271.2(POC5):c.546A>G (p.Arg182=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2191650	NM_001099271.2(POC5):c.1309T>C (p.Ser437Pro)	POC5 (S437P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2189898	NM_001099271.2(POC5):c.1500T>C (p.Asn500=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2186689	NM_001099271.2(POC5):c.1331C>T (p.Ala444Val)	POC5 (A419V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2186085	NM_001099271.2(POC5):c.1073G>T (p.Gly358Val)	POC5 (G358V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185059	NM_001099271.2(POC5):c.133G>A (p.Glu45Lys)	POC5 (E45K +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2181029	NM_001099271.2(POC5):c.1491T>C (p.Ala497=)	POC5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2180181	NM_001099271.2(POC5):c.434T>C (p.Leu145Pro)	POC5 (L120P +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2177602	NM_001099271.2(POC5):c.1198C>T (p.His400Tyr)	POC5 (H375Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176799	NM_001099271.2(POC5):c.673A>G (p.Ile225Val)	POC5 (I200V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176551	NM_001099271.2(POC5):c.1256C>A (p.Ser419Tyr)	POC5 (S394Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176446	NM_001099271.2(POC5):c.1622G>A (p.Arg541Gln)	POC5 (R516Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176155	NM_001099271.2(POC5):c.569G>A (p.Arg190Gln)	POC5 (R165Q +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2174892	NM_001099271.2(POC5):c.1101G>T (p.Met367Ile)	POC5 (M342I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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