ClinVar for MedGen (Select 400366) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341404	NM_001083116.3(PRF1):c.647T>C (p.Ile216Thr)	PRF1 (I216T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 3244861	NC_000010.10:g.(?_72357643)_(72358951_?)del	PRF1	Deletion	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 3022972	NM_001083116.3(PRF1):c.1287G>A (p.Gly429=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3022529	NM_001083116.3(PRF1):c.1473T>C (p.Asp491=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3018066	NM_001083116.3(PRF1):c.34C>G (p.Leu12Val)	PRF1 (L12V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 3017577	NM_001083116.3(PRF1):c.1101C>T (p.Tyr367=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3017038	NM_001083116.3(PRF1):c.1098G>A (p.Gln366=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3016884	NM_001083116.3(PRF1):c.960C>T (p.Ala320=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3016802	NM_001083116.3(PRF1):c.552A>G (p.Val184=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3016451	NM_001083116.3(PRF1):c.1605G>C (p.Leu535=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3014270	NM_001083116.3(PRF1):c.477C>G (p.Ala159=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3010083	NM_001083116.3(PRF1):c.408T>G (p.Thr136=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3008108	NM_001083116.3(PRF1):c.546T>C (p.His182=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 3002822	NM_001083116.3(PRF1):c.513T>C (p.Thr171=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2997832	NM_001083116.3(PRF1):c.1390C>A (p.Arg464=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2994353	NM_001083116.3(PRF1):c.1611T>C (p.Tyr537=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2993608	NM_001083116.3(PRF1):c.1134C>A (p.Ser378Arg)	PRF1 (S378R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2992612	NM_001083116.3(PRF1):c.531C>T (p.Arg177=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2992244	NM_001083116.3(PRF1):c.537C>T (p.Tyr179=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2987796	NM_001083116.3(PRF1):c.1146A>C (p.Pro382=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2986961	NM_001083116.3(PRF1):c.1413C>G (p.Leu471=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2985787	NM_001083116.3(PRF1):c.1290C>T (p.Asp430=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2983604	NM_001083116.3(PRF1):c.1566T>C (p.His522=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2982288	NM_001083116.3(PRF1):c.904G>T (p.Glu302Ter)	PRF1 (E302*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2974955	NM_001083116.3(PRF1):c.870C>T (p.Ala290=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2973387	NM_001083116.3(PRF1):c.1059G>A (p.Gln353=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2972317	NM_001083116.3(PRF1):c.1029G>A (p.Leu343=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2969952	NM_001083116.3(PRF1):c.738G>A (p.Leu246=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2968778	NM_001083116.3(PRF1):c.297C>T (p.Gly99=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2961670	NM_001083116.3(PRF1):c.315T>C (p.His105=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2960857	NM_001083116.3(PRF1):c.195G>A (p.Arg65=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2956207	NM_001083116.3(PRF1):c.540-20A>G	PRF1	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2919143	NM_001083116.3(PRF1):c.594G>A (p.Gly198=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2917273	NM_001083116.3(PRF1):c.6A>G (p.Ala2=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2913958	NM_001083116.3(PRF1):c.1659C>T (p.Ala553=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2912863	NM_001083116.3(PRF1):c.540-14C>T	PRF1	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2907398	NM_001083116.3(PRF1):c.1273dup (p.Trp425fs)	PRF1 (W425fs)	Duplication (frameshift variant)	Aplastic anemia +1 more	GPathogenic
Select item 2907005	NM_001083116.3(PRF1):c.1002C>G (p.Gly334=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2894772	NM_001083116.3(PRF1):c.957G>A (p.Gln319=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2891356	NM_001083116.3(PRF1):c.600G>A (p.Leu200=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2888064	NM_001083116.3(PRF1):c.207C>T (p.Pro69=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2886775	NM_001083116.3(PRF1):c.319A>C (p.Thr107Pro)	PRF1 (T107P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2886617	NM_001083116.3(PRF1):c.984G>A (p.Trp328Ter)	PRF1 (W328*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2883724	NM_001083116.3(PRF1):c.597C>T (p.Asp199=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2883595	NM_001083116.3(PRF1):c.204G>A (p.Arg68=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2879833	NM_001083116.3(PRF1):c.1268A>C (p.Gln423Pro)	PRF1 (Q423P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2879023	NM_001083116.3(PRF1):c.897C>G (p.Arg299=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2874621	NM_001083116.3(PRF1):c.465C>T (p.Ala155=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2870341	NM_001083116.3(PRF1):c.684G>A (p.Glu228=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2869448	NM_001083116.3(PRF1):c.33T>C (p.Leu11=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2865817	NM_001083116.3(PRF1):c.342T>G (p.Thr114=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2865665	NM_001083116.3(PRF1):c.165C>T (p.Arg55=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2864197	NM_001083116.3(PRF1):c.810C>T (p.Gly270=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2861186	NM_001083116.3(PRF1):c.540-18G>T	PRF1	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2856583	NM_001083116.3(PRF1):c.123A>C (p.Ala41=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2856226	NM_001083116.3(PRF1):c.1428G>T (p.Gly476=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2853717	NM_001083116.3(PRF1):c.1410G>C (p.Val470=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2853628	NM_001083116.3(PRF1):c.1610_1611del (p.Tyr537fs)	PRF1 (Y537fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely pathogenic
Select item 2853016	NM_001083116.3(PRF1):c.262C>A (p.Leu88Met)	PRF1 (L88M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2852217	NM_001083116.3(PRF1):c.431_434del (p.His144fs)	PRF1 (H144fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2852100	NM_001083116.3(PRF1):c.327del (p.Val111fs)	PRF1 (V111fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2850989	NM_001083116.3(PRF1):c.45G>A (p.Leu15=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2848053	NM_001083116.3(PRF1):c.642G>A (p.Arg214=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2846796	NM_001083116.3(PRF1):c.1092G>A (p.Leu364=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2846438	NM_001083116.3(PRF1):c.60T>C (p.Pro20=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2845669	NM_001083116.3(PRF1):c.1440G>A (p.Leu480=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2844361	NM_001083116.3(PRF1):c.888C>G (p.Tyr296Ter)	PRF1 (Y296*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2842956	NM_001083116.3(PRF1):c.420C>A (p.Thr140=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2840852	NM_001083116.3(PRF1):c.273G>T (p.Ala91=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2840750	NM_001083116.3(PRF1):c.75A>G (p.Thr25=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2838652	NM_001083116.3(PRF1):c.999C>G (p.Pro333=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2838149	NM_001083116.3(PRF1):c.1140G>T (p.Pro380=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2836603	NM_001083116.3(PRF1):c.876C>T (p.Phe292=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2835816	NM_001083116.3(PRF1):c.1231C>T (p.Gln411Ter)	PRF1 (Q411*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2833908	NM_001083116.3(PRF1):c.540-10C>T	PRF1	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2832650	NM_001083116.3(PRF1):c.65dup (p.Cys23fs)	PRF1 (C23fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2831731	NM_001083116.3(PRF1):c.565C>T (p.Leu189=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2829376	NM_001083116.3(PRF1):c.1590A>C (p.Gly530=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2828073	NM_001083116.3(PRF1):c.429G>A (p.Val143=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2826739	NM_001083116.3(PRF1):c.696C>T (p.Arg232=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2825758	NM_001083116.3(PRF1):c.884C>A (p.Thr295Asn)	PRF1 (T295N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2	GUncertain significance
Select item 2825691	NM_001083116.3(PRF1):c.1443G>A (p.Gln481=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2824058	NM_001083116.3(PRF1):c.1078C>T (p.Leu360=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2822034	NM_001083116.3(PRF1):c.78C>G (p.Ala26=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2820059	NM_001083116.3(PRF1):c.1446C>G (p.Val482=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2820058	NM_001083116.3(PRF1):c.1560C>G (p.Arg520=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2819099	NM_001083116.3(PRF1):c.1266C>T (p.Ile422=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2815572	NM_001083116.3(PRF1):c.1650G>T (p.Arg550=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2814838	NM_001083116.3(PRF1):c.625C>T (p.Gln209Ter)	PRF1 (Q209*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2806798	NM_001083116.3(PRF1):c.216C>T (p.Thr72=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2805340	NM_001083116.3(PRF1):c.429G>C (p.Val143=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2804525	NM_001083116.3(PRF1):c.36C>G (p.Leu12=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2804416	NM_001083116.3(PRF1):c.241C>T (p.Gln81Ter)	PRF1 (Q81*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 2	GPathogenic
Select item 2803491	NM_001083116.3(PRF1):c.219C>T (p.Cys73=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2800046	NM_001083116.3(PRF1):c.549G>A (p.Val183=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2793904	NM_001083116.3(PRF1):c.789G>A (p.Gln263=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2793581	NM_001083116.3(PRF1):c.321C>T (p.Thr107=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2792623	NM_001083116.3(PRF1):c.1230G>A (p.Arg410=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2792603	NM_001083116.3(PRF1):c.1389G>A (p.Val463=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign
Select item 2790424	NM_001083116.3(PRF1):c.723C>T (p.Thr241=)	PRF1	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 2	GLikely benign

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