ClinVar for Gene (Select 4901) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358791	NM_004563.4(PCK2):c.917G>A (p.Cys306Tyr)	NRL, PCK2 (C172Y +1 more)	Single nucleotide variant (missense variant +1 more)	PCK2-related disorder	GUncertain significance
Select item 3305141	NM_004563.4(PCK2):c.1008C>G (p.Asp336Glu)	NRL, PCK2 (D202E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305140	NM_004563.4(PCK2):c.1151G>A (p.Gly384Asp)	NRL, PCK2 (G250D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3305138	NM_004563.4(PCK2):c.425G>A (p.Arg142Gln)	NRL, PCK2 (R142Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3301067	NM_001354768.3(NRL):c.115C>G (p.Leu39Val)	NRL (L39V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3251214	NM_004563.4(PCK2):c.1612G>A (p.Asp538Asn)	NRL, PCK2 (D404N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3239532	NM_004563.4(PCK2):c.798A>C (p.Leu266=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239342	NM_004563.4(PCK2):c.825T>C (p.Asp275=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239315	NM_004563.4(PCK2):c.798A>T (p.Leu266=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239217	NM_004563.4(PCK2):c.810T>C (p.Ser270=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3239199	NM_004563.4(PCK2):c.840A>C (p.Ala280=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3210243	NM_004563.4(PCK2):c.73C>T (p.Arg25Cys)	NRL, PCK2 (R25C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210242	NM_004563.4(PCK2):c.694C>T (p.Pro232Ser)	NRL, PCK2 (P98S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210241	NM_004563.4(PCK2):c.518G>A (p.Arg173His)	NRL, PCK2 (R39H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210240	NM_004563.4(PCK2):c.286C>T (p.Arg96Cys)	NRL, PCK2 (R96C)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3210238	NM_004563.4(PCK2):c.1844C>A (p.Thr615Lys)	NRL, PCK2 (T481K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210237	NM_004563.4(PCK2):c.1765G>A (p.Ala589Thr)	NRL, PCK2 (A589T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210234	NM_004563.4(PCK2):c.1482G>T (p.Met494Ile)	NRL, PCK2 (M494I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210233	NM_004563.4(PCK2):c.1457C>T (p.Ala486Val)	NRL, PCK2 (A486V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210232	NM_004563.4(PCK2):c.1250G>A (p.Cys417Tyr)	NRL, PCK2 (C283Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3210230	NM_004563.4(PCK2):c.1045G>A (p.Gly349Ser)	NRL, PCK2 (G215S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3065586	NM_001354768.3(NRL):c.-27-11564C>T	NRL, PCK2	Single nucleotide variant (5 prime UTR variant +1 more)	Retinitis pigmentosa 27	GUncertain significance
Select item 3055845	NM_004563.4(PCK2):c.753C>T (p.Ser251=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3055309	NM_004563.4(PCK2):c.1234+99C>G	NRL, PCK2	Single nucleotide variant (3 prime UTR variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3054370	NM_004563.4(PCK2):c.1234+52T>C	NRL, PCK2 (M429T)	Single nucleotide variant (missense variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3053377	NM_004563.4(PCK2):c.1623G>A (p.Gly541=)	NRL, PCK2	Single nucleotide variant (intron variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3032103	NM_004563.4(PCK2):c.1234+26A>T	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3031325	NM_004563.4(PCK2):c.483A>G (p.Pro161=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	PCK2-related disorder	GLikely benign
Select item 3028278	NM_001354768.3(NRL):c.36T>C (p.Tyr12=)	NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028277	NM_001354768.3(NRL):c.60G>A (p.Lys20=)	NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028276	NM_001354768.3(NRL):c.371A>C (p.Gln124Pro)	NRL (Q124P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028275	NM_001354768.3(NRL):c.604C>A (p.Arg202=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely pathogenic
Select item 3020349	NM_004563.4(PCK2):c.18C>A (p.Arg6=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3016853	NM_004563.4(PCK2):c.179T>C (p.Ile60Thr)	NRL, PCK2 (I60T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3001276	NM_001354768.3(NRL):c.383T>C (p.Leu128Pro)	NRL (L23P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000704	NM_004563.4(PCK2):c.1469-16C>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995662	NM_004563.4(PCK2):c.919G>A (p.Gly307Ser)	NRL, PCK2 (G307S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2995460	NM_004563.4(PCK2):c.30-13G>A	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985644	NM_001354768.3(NRL):c.265G>C (p.Gly89Arg)	NRL (G89R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985553	NM_001354768.3(NRL):c.17G>C (p.Ser6Thr)	NRL (S6T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968435	NM_001354768.3(NRL):c.488G>A (p.Arg163Lys)	NRL (R163K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2964912	NM_004563.4(PCK2):c.1745T>C (p.Leu582Ser)	NRL, PCK2 (L448S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963704	NM_001354768.3(NRL):c.11C>T (p.Pro4Leu)	NRL (P4L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960181	NM_004563.4(PCK2):c.748G>C (p.Gly250Arg)	NRL, PCK2 (G116R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2919146	NM_004563.4(PCK2):c.1469-5C>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2916202	NM_004563.4(PCK2):c.718G>A (p.Val240Met)	NRL, PCK2 (V240M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2912418	NM_004563.4(PCK2):c.1678C>T (p.Arg560Trp)	NRL, PCK2 (R560W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901881	NM_004563.4(PCK2):c.1172T>C (p.Ile391Thr)	NRL, PCK2 (I391T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2901624	NM_004563.4(PCK2):c.1281G>A (p.Pro427=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2896423	NM_004563.4(PCK2):c.1429G>A (p.Ala477Thr)	NRL, PCK2 (A343T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2894000	NM_004563.4(PCK2):c.30-20T>C	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888160	NM_004563.4(PCK2):c.1799A>G (p.Lys600Arg)	NRL, PCK2 (K466R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884456	NM_004563.4(PCK2):c.886C>T (p.Arg296Cys)	NRL, PCK2 (R296C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2884023	NM_004563.4(PCK2):c.820C>T (p.Arg274Trp)	NRL, PCK2 (R274W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2875470	NM_001354768.3(NRL):c.413T>C (p.Val138Ala)	NRL (V138A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2874954	NM_004563.4(PCK2):c.1468+12C>T	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2872800	NM_001354768.3(NRL):c.315C>A (p.Val105=)	NRL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2865238	NM_001354768.3(NRL):c.164A>G (p.Glu55Gly)	NRL (E55G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2861686	NM_004563.4(PCK2):c.1234+8C>T	PCK2, NRL	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2859885	NM_004563.4(PCK2):c.1648G>T (p.Glu550Ter)	NRL, PCK2 (E416* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2859343	NM_004563.4(PCK2):c.1795C>T (p.Pro599Ser)	NRL, PCK2 (P465S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2851373	NM_004563.4(PCK2):c.1469-4C>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2849268	NM_004563.4(PCK2):c.664G>A (p.Gly222Arg)	NRL, PCK2 (G222R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2827002	NM_001354768.3(NRL):c.711C>T (p.Leu237=)	LOC130055387, NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2819669	NM_001354768.3(NRL):c.462C>A (p.Arg154=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2808898	NM_001354768.3(NRL):c.382-5C>A	NRL	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2803836	NM_001354768.3(NRL):c.709C>T (p.Leu237Phe)	LOC130055387, NRL (L132F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2802911	NM_001354768.3(NRL):c.712T>C (p.Ter238Arg)	LOC130055387, NRL	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 2797511	NM_001354768.3(NRL):c.175G>T (p.Val59Leu)	NRL (V59L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795207	NM_001354768.3(NRL):c.635G>A (p.Arg212His)	LOC130055387, NRL (R212H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794805	NM_001354768.3(NRL):c.535A>C (p.Lys179Gln)	LOC130055387, NRL (K74Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2794346	NM_001354768.3(NRL):c.170G>A (p.Gly57Asp)	NRL (G57D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2777576	NM_001354768.3(NRL):c.474G>A (p.Leu158=)	NRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768529	NM_004563.4(PCK2):c.1469-2A>T	NRL, PCK2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2766192	NM_004563.4(PCK2):c.461-8C>T	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2761941	NM_004563.4(PCK2):c.287G>T (p.Arg96Leu)	NRL, PCK2 (R96L)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2752566	NM_001354768.3(NRL):c.467A>G (p.Glu156Gly)	NRL (E156G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2752259	NM_004563.4(PCK2):c.1155C>T (p.Gly385=)	NRL, PCK2	Single nucleotide variant (intron variant +1 more)	not provided	GBenign
Select item 2751951	NM_004563.4(PCK2):c.943C>A (p.Arg315=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2751057	NM_001354768.3(NRL):c.565G>A (p.Ala189Thr)	LOC130055387, NRL (A189T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747882	NM_004563.4(PCK2):c.731G>A (p.Arg244Gln)	NRL, PCK2 (R244Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2740687	NM_004563.4(PCK2):c.915C>A (p.Ala305=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2738291	NM_004563.4(PCK2):c.1610G>A (p.Arg537His)	NRL, PCK2 (R403H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2738285	NM_004563.4(PCK2):c.1235-17T>C	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2733407	NM_004563.4(PCK2):c.1553T>C (p.Met518Thr)	NRL, PCK2 (M384T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2731744	NM_004563.4(PCK2):c.121C>T (p.Pro41Ser)	NRL, PCK2 (P41S)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2725443	NM_004563.4(PCK2):c.1267C>T (p.Arg423Ter)	NRL, PCK2 (R289* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2725140	NM_004563.4(PCK2):c.812G>A (p.Arg271Gln)	NRL, PCK2 (R137Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2723891	NM_004563.4(PCK2):c.1906C>T (p.Arg636Cys)	NRL, PCK2 (R502C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2722813	NM_004563.4(PCK2):c.853-8A>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2721282	NM_004563.4(PCK2):c.12G>C (p.Leu4Phe)	NRL, PCK2 (L4F)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 2718337	NM_004563.4(PCK2):c.250C>T (p.Arg84Ter)	NRL, PCK2 (R84*)	Single nucleotide variant (nonsense +2 more)	not provided	GUncertain significance
Select item 2716656	NM_004563.4(PCK2):c.1530C>G (p.His510Gln)	NRL, PCK2 (H510Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2716066	NM_004563.4(PCK2):c.1658G>A (p.Arg553Gln)	NRL, PCK2 (R419Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2713587	NM_004563.4(PCK2):c.644G>A (p.Gly215Asp)	NRL, PCK2 (G81D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2713338	NM_004563.4(PCK2):c.1485C>T (p.His495=)	NRL, PCK2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2699332	NM_004563.4(PCK2):c.162G>T (p.Leu54=)	NRL, PCK2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2696535	NM_004563.4(PCK2):c.1469-6C>G	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2685479	GRCh37/hg19 14q11.2-12(chr14:24445622-28262222)x1	RIPK3, RNF31 +41 more	Copy number loss	not provided	GLikely pathogenic
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic

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