ClinVar for Gene (Select 5580) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3425120	NM_006254.4(PRKCD):c.880G>A (p.Val294Ile)	PRKCD (V310I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3425119	NM_006254.4(PRKCD):c.1665A>C (p.Glu555Asp)	PRKCD (E555D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3391879	GRCh37/hg19 3p21.2-21.1(chr3:51962412-53969609)x1	ABHD14A, ABHD14B +45 more	Copy number loss	not provided	GPathogenic
Select item 3391052	NM_006254.4(PRKCD):c.1073G>A (p.Gly358Asp)	PRKCD (G358D +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely pathogenic
Select item 3342235	NM_006254.4(PRKCD):c.1441_1442delinsTC (p.Leu481Ser)	PRKCD (L481S +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 3309988	NM_006254.4(PRKCD):c.1781C>T (p.Thr594Ile)	PRKCD (T610I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218769	NM_006254.4(PRKCD):c.965T>G (p.Val322Gly)	PRKCD (V322G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218768	NM_006254.4(PRKCD):c.413A>G (p.Lys138Arg)	PRKCD (K154R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218767	NM_006254.4(PRKCD):c.348G>A (p.Met116Ile)	LOC129936895, PRKCD (M116I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3218766	NM_006254.4(PRKCD):c.332A>G (p.Gln111Arg)	LOC129936895, PRKCD (Q127R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 3061566	NM_006254.4(PRKCD):c.1614G>A (p.Leu538=)	PRKCD	Single nucleotide variant (synonymous variant)	PRKCD-related disorder	GLikely benign
Select item 3051635	NM_006254.4(PRKCD):c.495C>T (p.Phe165=)	PRKCD	Single nucleotide variant (synonymous variant)	PRKCD-related disorder	GLikely benign
Select item 3020462	NM_006254.4(PRKCD):c.1744-20G>C	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 3018444	NM_006254.4(PRKCD):c.1881C>T (p.Pro627=)	LOC129936899, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 3012879	NM_006254.4(PRKCD):c.1641C>G (p.Pro547=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 3012872	NM_006254.4(PRKCD):c.423G>A (p.Thr141=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 3006484	NM_006254.4(PRKCD):c.660C>T (p.Phe220=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 3006123	NM_006254.4(PRKCD):c.1087-16C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 3000006	NM_006254.4(PRKCD):c.1260+19_1260+34dup	PRKCD	Duplication (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2993554	NM_006254.4(PRKCD):c.985+18G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2989765	NM_006254.4(PRKCD):c.315+18C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2984252	NM_006254.4(PRKCD):c.788-12C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2972966	NM_006254.4(PRKCD):c.1077C>T (p.Ser359=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2971920	NM_006254.4(PRKCD):c.1353-16C>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2966441	NM_006254.4(PRKCD):c.1776A>C (p.Gly592=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2962945	NM_006254.4(PRKCD):c.1331G>A (p.Arg444His)	PRKCD (R444H +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2962824	NM_006254.4(PRKCD):c.360T>C (p.Tyr120=)	PRKCD, LOC129936895	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2960912	NM_006254.4(PRKCD):c.315+13C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2956234	NM_006254.4(PRKCD):c.1917C>T (p.Asn639=)	LOC129936899, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2955998	NM_006254.4(PRKCD):c.618C>T (p.Gly206=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2918541	NM_006254.4(PRKCD):c.1872+13G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2918398	NM_006254.4(PRKCD):c.1087-15G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2909516	NM_006254.4(PRKCD):c.571+1G>A	PRKCD	Single nucleotide variant (splice donor variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely pathogenic
Select item 2907865	NM_006254.4(PRKCD):c.1080C>T (p.Phe360=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2901863	NM_006254.4(PRKCD):c.171G>A (p.Ser57=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2893213	NM_006254.4(PRKCD):c.1164C>T (p.Asp388=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2889704	NM_006254.4(PRKCD):c.788-3C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2884021	NM_006254.4(PRKCD):c.1213G>T (p.Ala405Ser)	PRKCD (A405S +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2883168	NM_006254.4(PRKCD):c.563A>G (p.Lys188Arg)	PRKCD (K207R +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2883062	NM_006254.4(PRKCD):c.315+8G>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2875202	NM_006254.4(PRKCD):c.1086+16_1086+26del	PRKCD	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2874688	NM_006254.4(PRKCD):c.1086+20C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2864670	NM_006254.4(PRKCD):c.1555-14C>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2856408	NM_006254.4(PRKCD):c.116-17G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2851839	NM_006254.4(PRKCD):c.69G>A (p.Ala23=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2826098	NM_006254.4(PRKCD):c.1332C>A (p.Arg444=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2818526	NM_006254.4(PRKCD):c.540-17T>C	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2812387	NM_006254.4(PRKCD):c.1873-20C>T	LOC129936899, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2805468	NM_006254.4(PRKCD):c.539+16G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2798660	NM_006254.4(PRKCD):c.804G>A (p.Val268=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2798465	NM_006254.4(PRKCD):c.1554+14C>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2793822	NM_006254.4(PRKCD):c.657+10G>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2793791	NM_006254.4(PRKCD):c.1515C>T (p.Ala505=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2792901	NM_006254.4(PRKCD):c.1569G>A (p.Leu523=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2791427	NM_006254.4(PRKCD):c.540-9G>C	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2786959	NM_006254.4(PRKCD):c.2001C>T (p.Asn667=)	LOC129936899, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2782935	NM_006254.4(PRKCD):c.571+15A>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2766705	NM_006254.4(PRKCD):c.376+15G>T	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2760461	NM_006254.4(PRKCD):c.1025G>T (p.Ser342Ile)	PRKCD (S342I +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2734365	NM_006254.4(PRKCD):c.343T>C (p.Leu115=)	LOC129936895, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2731669	NM_006254.4(PRKCD):c.1873-19C>T	LOC129936899, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2730027	NM_006254.4(PRKCD):c.1353-11C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2729927	NM_006254.4(PRKCD):c.1944C>T (p.Asp648=)	LOC129936899, PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2717162	NM_006254.4(PRKCD):c.1180A>G (p.Thr394Ala)	PRKCD (T394A +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2716856	NM_006254.4(PRKCD):c.1415+5G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2707121	NM_006254.4(PRKCD):c.771G>A (p.Gln257=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2702263	NM_006254.4(PRKCD):c.1053C>T (p.Phe351=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2697751	NM_006254.4(PRKCD):c.571+17G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2695076	NM_006254.4(PRKCD):c.986-12T>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2688181	NM_006254.4(PRKCD):c.315+36_315+37insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2688105	NM_006254.4(PRKCD):c.315+28_315+29insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2688097	NM_006254.4(PRKCD):c.315+38_315+39insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2687983	NM_006254.4(PRKCD):c.315+43_315+44insGTCT	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2681502	NM_006254.4(PRKCD):c.682G>A (p.Asp228Asn)	PRKCD (D228N +2 more)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2628302	NM_006254.4(PRKCD):c.315+37_315+38insTTGT	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628296	NM_006254.4(PRKCD):c.315+42_315+43insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628295	NM_006254.4(PRKCD):c.315+40_315+41insCGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628294	NM_006254.4(PRKCD):c.315+36_315+37insCGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628293	NM_006254.4(PRKCD):c.315+34_315+35insCGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628292	NM_006254.4(PRKCD):c.315+32_315+33insCGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628291	NM_006254.4(PRKCD):c.315+30_315+31insCGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628272	NM_006254.4(PRKCD):c.315+34_315+35insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628232	NM_006254.4(PRKCD):c.315+32_315+33insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628231	NM_006254.4(PRKCD):c.315+30_315+31insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2628212	NM_006254.4(PRKCD):c.315+24GT[11]	PRKCD	Microsatellite (intron variant)	not specified	GBenign
Select item 2542710	NM_006254.4(PRKCD):c.908A>G (p.Asp303Gly)	PRKCD (D319G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487171	NM_006254.4(PRKCD):c.995G>A (p.Gly332Glu)	PRKCD (G351E +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2465982	NM_006254.4(PRKCD):c.93G>C (p.Lys31Asn)	PRKCD (K31N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2456504	NM_006254.4(PRKCD):c.634G>A (p.Ala212Thr)	PRKCD (A212T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2435243	NM_006254.4(PRKCD):c.818G>A (p.Arg273Gln)	PRKCD (R273Q +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2423375	NC_000003.11:g.(?_52018081)_(53845433_?)del	ACY1, ALAS1 +35 more	Deletion	not provided	GUncertain significance
Select item 2417958	NM_006254.4(PRKCD):c.1729G>A (p.Asp577Asn)	PRKCD (D577N +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2245086	NM_006254.4(PRKCD):c.1510C>G (p.Arg504Gly)	PRKCD (R504G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218258	NM_006254.4(PRKCD):c.817C>T (p.Arg273Trp)	PRKCD (R292W +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2202134	NM_006254.4(PRKCD):c.1872+11C>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2200288	NM_006254.4(PRKCD):c.1170C>T (p.Asp390=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2198679	NM_006254.4(PRKCD):c.1980C>T (p.Phe660=)	LOC129936899, PRKCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2197891	NM_006254.4(PRKCD):c.778A>C (p.Lys260Gln)	PRKCD (K279Q +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2195699	NM_006254.4(PRKCD):c.1102C>G (p.Leu368Val)	PRKCD (L384V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance

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