5580[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic
Select item 155564	GRCh38/hg38 3p21.2-14.3(chr3:51394434-55064449)x1	ABHD14A, ABHD14A-ACY1 +197 more	Copy number loss	See cases	GLikely pathogenic
Select item 1233848	NM_006254.4(PRKCD):c.-19-241C>T	PRKCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268678	NM_006254.4(PRKCD):c.-19-208C>A	PRKCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275121	NM_006254.4(PRKCD):c.-19-37C>T	PRKCD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1411647	NM_006254.4(PRKCD):c.5C>T (p.Ala2Val)	PRKCD (A18V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1661772	NM_006254.4(PRKCD):c.6G>A (p.Ala2=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1087678	NM_006254.4(PRKCD):c.9G>A (p.Pro3=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1143704	NM_006254.4(PRKCD):c.21C>T (p.Ile7=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 571838	NM_006254.4(PRKCD):c.22G>A (p.Ala8Thr)	PRKCD (A8T +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2126959	NM_006254.4(PRKCD):c.30C>A (p.Asn10Lys)	PRKCD (N26K +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1395255	NM_006254.4(PRKCD):c.44G>A (p.Gly15Asp)	PRKCD (G15D +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1017548	NM_006254.4(PRKCD):c.44G>C (p.Gly15Ala)	PRKCD (G15A +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1474215	NM_006254.4(PRKCD):c.56C>T (p.Ala19Val)	PRKCD (A35V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1622034	NM_006254.4(PRKCD):c.57C>A (p.Ala19=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1098019	NM_006254.4(PRKCD):c.57C>T (p.Ala19=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 799853	NM_006254.4(PRKCD):c.57C>G (p.Ala19=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 785436	NM_006254.4(PRKCD):c.63C>T (p.Asp21=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1497268	NM_006254.4(PRKCD):c.64G>A (p.Glu22Lys)	PRKCD (E38K +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 660963	NM_006254.4(PRKCD):c.68C>T (p.Ala23Val)	PRKCD (A42V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 2050371	NM_006254.4(PRKCD):c.87C>T (p.Ala29=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 970582	NM_006254.4(PRKCD):c.88G>A (p.Val30Met)	PRKCD (V49M +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1673463	NM_006254.4(PRKCD):c.90G>A (p.Val30=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1586326	NM_006254.4(PRKCD):c.90G>C (p.Val30=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
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 2072290	NM_006254.4(PRKCD):c.105G>T (p.Ala35=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 714718	NM_006254.4(PRKCD):c.105G>A (p.Ala35=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1571727	NM_006254.4(PRKCD):c.115+9G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1628594	NM_006254.4(PRKCD):c.115+14C>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GBenign
Select item 1273777	NM_006254.4(PRKCD):c.115+21C>G	PRKCD	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1265373	NM_006254.4(PRKCD):c.115+163C>T	PRKCD	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225383	NM_006254.4(PRKCD):c.116-55C>G	PRKCD	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 1532266	NM_006254.4(PRKCD):c.116-17del	PRKCD	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1659997	NM_006254.4(PRKCD):c.116-7G>C	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2055331	NM_006254.4(PRKCD):c.119G>A (p.Arg40His)	PRKCD (R56H +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1348275	NM_006254.4(PRKCD):c.139AAG[1] (p.Lys48del)	PRKCD (K48del +2 more)	Microsatellite (inframe_deletion)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1397285	NM_006254.4(PRKCD):c.140A>G (p.Lys47Arg)	PRKCD (K47R +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1039490	NM_006254.4(PRKCD):c.140A>C (p.Lys47Thr)	PRKCD (K47T +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2132223	NM_006254.4(PRKCD):c.141G>C (p.Lys47Asn)	PRKCD (K63N +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1919998	NM_006254.4(PRKCD):c.151A>G (p.Met51Val)	PRKCD (M51V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 624027	NM_006254.4(PRKCD):c.152T>C (p.Met51Thr)	PRKCD (M51T +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037195	NM_006254.4(PRKCD):c.170C>T (p.Ser57Leu)	PRKCD (S57L +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
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 765072	NM_006254.4(PRKCD):c.174G>A (p.Thr58=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +1 more	GLikely benign
Select item 1542299	NM_006254.4(PRKCD):c.177C>T (p.Phe59=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 403344	NM_006254.4(PRKCD):c.180T>C (p.Asp60=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +2 more	GBenign
Select item 2102879	NM_006254.4(PRKCD):c.187A>G (p.Ile63Val)	PRKCD (I63V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1643764	NM_006254.4(PRKCD):c.189C>T (p.Ile63=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1474712	NM_006254.4(PRKCD):c.195G>C (p.Glu65Asp)	PRKCD (E65D +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2176173	NM_006254.4(PRKCD):c.201C>T (p.Arg67=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 661777	NM_006254.4(PRKCD):c.202G>A (p.Val68Ile)	PRKCD (V84I +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 837398	NM_006254.4(PRKCD):c.214G>A (p.Val72Met)	PRKCD (V91M +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 474768	NM_006254.4(PRKCD):c.214G>C (p.Val72Leu)	PRKCD (V72L +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GBenign
Select item 753425	NM_006254.4(PRKCD):c.217C>T (p.Leu73=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1556301	NM_006254.4(PRKCD):c.225G>C (p.Arg75=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 796071	NM_006254.4(PRKCD):c.240A>G (p.Pro80=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 726573	NM_006254.4(PRKCD):c.243G>C (p.Val81=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2072709	NM_006254.4(PRKCD):c.250G>A (p.Val84Met)	PRKCD (V103M +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1362995	NM_006254.4(PRKCD):c.250G>T (p.Val84Leu)	PRKCD (V100L +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1085953	NM_006254.4(PRKCD):c.255C>T (p.Thr85=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 947474	NM_006254.4(PRKCD):c.256G>A (p.Val86Met)	PRKCD (V102M +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 727765	NM_006254.4(PRKCD):c.264G>T (p.Val88=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2054654	NM_006254.4(PRKCD):c.266C>T (p.Ser89Leu)	PRKCD (S89L +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 964708	NM_006254.4(PRKCD):c.267G>A (p.Ser89=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +1 more	GConflicting classifications of pathogenicity
Select item 1016335	NM_006254.4(PRKCD):c.268G>A (p.Val90Met)	PRKCD (V106M +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1583207	NM_006254.4(PRKCD):c.271C>T (p.Leu91=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 755872	NM_006254.4(PRKCD):c.276C>T (p.Ala92=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 653371	NM_006254.4(PRKCD):c.280C>T (p.Arg94Cys)	PRKCD (R110C +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 1454573	NM_006254.4(PRKCD):c.285C>A (p.Cys95Ter)	PRKCD (C111* +2 more)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GPathogenic
Select item 2150777	NM_006254.4(PRKCD):c.287A>G (p.Lys96Arg)	PRKCD (K115R +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 940449	NM_006254.4(PRKCD):c.297T>A (p.Asn99Lys)	PRKCD (N118K +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 782427	NM_006254.4(PRKCD):c.300C>A (p.Gly100=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +1 more	GLikely benign
Select item 1061971	NM_006254.4(PRKCD):c.305C>T (p.Ala102Val)	PRKCD (A102V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2034680	NM_006254.4(PRKCD):c.309G>A (p.Glu103=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 1454501	NM_006254.4(PRKCD):c.315G>A (p.Trp105Ter)	PRKCD (W105* +2 more)	Single nucleotide variant (nonsense)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +1 more	GConflicting classifications of pathogenicity
Select item 1560997	NM_006254.4(PRKCD):c.315+7G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
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 791076	NM_006254.4(PRKCD):c.315+9C>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GBenign/Likely benign
Select item 750676	NM_006254.4(PRKCD):c.315+10G>A	PRKCD	Single nucleotide variant (intron 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 1586625	NM_006254.4(PRKCD):c.315+16G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2099681	NM_006254.4(PRKCD):c.315+17C>T	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 1593776	NM_006254.4(PRKCD):c.315+19G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2628212	NM_006254.4(PRKCD):c.315+24GT[11]	PRKCD	Microsatellite (intron variant)	not specified	GBenign
Select item 1265532	NM_006254.4(PRKCD):c.315+24GT[13]	PRKCD	Microsatellite (intron variant)	not provided	GBenign
Select item 1250407	NM_006254.4(PRKCD):c.315+24GT[12]	PRKCD	Microsatellite (intron variant)	not specified +1 more	GBenign
Select item 2688105	NM_006254.4(PRKCD):c.315+28_315+29insGGTG	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 2628231	NM_006254.4(PRKCD):c.315+30_315+31insGGTG	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 2628232	NM_006254.4(PRKCD):c.315+32_315+33insGGTG	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 2628272	NM_006254.4(PRKCD):c.315+34_315+35insGGTG	PRKCD	Insertion (intron variant)	not specified	GBenign
Select item 2688181	NM_006254.4(PRKCD):c.315+36_315+37insGGTG	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 2628302	NM_006254.4(PRKCD):c.315+37_315+38insTTGT	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

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