ClinVar for MedGen (Select 816258) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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=)	PRKCD, LOC129936899	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD +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
Select item 2195498	NM_006254.4(PRKCD):c.787+15G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2181032	NM_006254.4(PRKCD):c.1086+17G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2180695	NM_006254.4(PRKCD):c.389C>T (p.Ser130Phe)	PRKCD (S130F +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2176586	NM_006254.4(PRKCD):c.376+16G>T	LOC129936895, PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GBenign
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 2173067	NM_006254.4(PRKCD):c.1743+10CTGGG[5]	PRKCD	Microsatellite (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2170469	NM_006254.4(PRKCD):c.1165G>A (p.Asp389Asn)	PRKCD (D389N +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2166966	NM_006254.4(PRKCD):c.985+12T>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2166015	NM_006254.4(PRKCD):c.788-19C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2165293	NM_006254.4(PRKCD):c.1602C>T (p.Phe534=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2157556	NM_006254.4(PRKCD):c.658-11C>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2156163	NM_006254.4(PRKCD):c.1330C>T (p.Arg444Cys)	PRKCD (R463C +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2155366	NM_006254.4(PRKCD):c.1415+4C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
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 2146571	NM_006254.4(PRKCD):c.571+7G>A	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2146248	NM_006254.4(PRKCD):c.681C>T (p.Ile227=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2144197	NM_006254.4(PRKCD):c.657+14C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2143256	NM_006254.4(PRKCD):c.985+19C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2133860	NM_006254.4(PRKCD):c.1041C>A (p.Asn347Lys)	PRKCD (N363K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2133246	NM_006254.4(PRKCD):c.658-14A>G	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2133180	NM_006254.4(PRKCD):c.1501G>A (p.Gly501Arg)	PRKCD (G517R +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 2128407	NM_006254.4(PRKCD):c.1182del (p.Met395fs)	PRKCD (M411fs +2 more)	Deletion (frameshift variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GPathogenic
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 2119960	NM_006254.4(PRKCD):c.1083G>T (p.Gly361=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2115685	NM_006254.4(PRKCD):c.1743+20C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
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 2101819	NM_006254.4(PRKCD):c.1196G>C (p.Arg399Pro)	PRKCD (R418P +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2100549	NM_006254.4(PRKCD):c.1469C>T (p.Ala490Val)	PRKCD (A490V +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
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 2099415	NM_006254.4(PRKCD):c.1260+3G>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2098823	NM_006254.4(PRKCD):c.680T>C (p.Ile227Thr)	PRKCD (I243T +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance
Select item 2097489	NM_006254.4(PRKCD):c.1510C>A (p.Arg504=)	PRKCD	Single nucleotide variant (synonymous variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2096881	NM_006254.4(PRKCD):c.658-9del	PRKCD	Deletion (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GBenign
Select item 2095069	NM_006254.4(PRKCD):c.888+12C>T	PRKCD	Single nucleotide variant (intron variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GLikely benign
Select item 2092705	NM_006254.4(PRKCD):c.1396A>G (p.Ser466Gly)	PRKCD (S485G +2 more)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD	GUncertain significance

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