Related gene-specific medical variations for Gene (Select 5106) - 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 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=)	PCK2, NRL	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 (synonymous 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 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 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 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 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 2874954	NM_004563.4(PCK2):c.1468+12C>T	NRL, PCK2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 2644128	NM_004563.4(PCK2):c.1234+54G>A	NRL, PCK2 (V430M)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2611645	NM_004563.4(PCK2):c.17G>A (p.Arg6His)	NRL, PCK2 (R6H)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2593294	NM_004563.4(PCK2):c.1501C>T (p.Arg501Trp)	NRL, PCK2 (R367W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2590938	NM_004563.4(PCK2):c.1025G>A (p.Arg342Gln)	NRL, PCK2 (R208Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2547523	NM_004563.4(PCK2):c.734A>C (p.Glu245Ala)	NRL, PCK2 (E245A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2535864	NM_004563.4(PCK2):c.1052T>A (p.Phe351Tyr)	NRL, PCK2 (F351Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514133	NM_004563.4(PCK2):c.1054G>A (p.Gly352Arg)	NRL, PCK2 (G218R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2496421	NM_004563.4(PCK2):c.1712C>T (p.Thr571Ile)	NRL, PCK2 (T437I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466892	NM_004563.4(PCK2):c.1546C>A (p.Leu516Met)	NRL, PCK2 (L382M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2455300	NM_004563.4(PCK2):c.1421T>C (p.Val474Ala)	NRL, PCK2 (V340A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2419963	NM_004563.4(PCK2):c.275+1G>A	NRL, PCK2	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2407736	NM_004563.4(PCK2):c.1268G>A (p.Arg423Gln)	NRL, PCK2 (R289Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2396840	NM_004563.4(PCK2):c.94G>A (p.Val32Met)	NRL, PCK2 (V32M)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2382490	NM_004563.4(PCK2):c.1019G>A (p.Arg340Gln)	NRL, PCK2 (R206Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373713	NM_004563.4(PCK2):c.1583G>A (p.Arg528His)	NRL, PCK2 (R394H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2368574	NM_004563.4(PCK2):c.1681C>T (p.Arg561Trp)	NRL, PCK2 (R561W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350087	NM_004563.4(PCK2):c.1615G>A (p.Glu539Lys)	NRL, PCK2 (E539K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2345970	NM_004563.4(PCK2):c.1360C>T (p.Arg454Cys)	PCK2, NRL (R454C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2332809	NM_004563.4(PCK2):c.1690G>C (p.Gly564Arg)	NRL, PCK2 (G564R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2330800	NM_004563.4(PCK2):c.187T>G (p.Cys63Gly)	NRL, PCK2 (C63G)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2327240	NM_004563.4(PCK2):c.1525G>A (p.Gly509Arg)	NRL, PCK2 (G509R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310405	NM_004563.4(PCK2):c.1567G>A (p.Gly523Arg)	NRL, PCK2 (G389R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2295093	NM_004563.4(PCK2):c.1792C>T (p.Leu598Phe)	NRL, PCK2 (L464F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279068	NM_004563.4(PCK2):c.269A>G (p.Asn90Ser)	NRL, PCK2 (N90S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2278466	NM_004563.4(PCK2):c.1121T>C (p.Ile374Thr)	NRL, PCK2 (I240T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262031	NM_004563.4(PCK2):c.949G>A (p.Ala317Thr)	NRL, PCK2 (A317T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2260724	NM_004563.4(PCK2):c.674T>G (p.Val225Gly)	NRL, PCK2 (V225G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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