201294[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 59610	GRCh38/hg38 17q25.1(chr17:75636351-75970744)x1	ACOX1, FBF1 +49 more	Copy number loss	See cases	GPathogenic
Select item 892525	NM_199242.3(UNC13D):c.*692C>G	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 892526	NM_199242.3(UNC13D):c.*663C>A	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 889163	NM_199242.3(UNC13D):c.*658G>A	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GBenign
Select item 325236	NM_199242.3(UNC13D):c.*621C>T	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 889164	NM_199242.3(UNC13D):c.*535A>G	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 889165	NM_199242.3(UNC13D):c.*502C>A	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 325237	NM_199242.3(UNC13D):c.*326C>T	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GBenign
Select item 325238	NM_199242.3(UNC13D):c.*317C>T	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 325239	NM_199242.3(UNC13D):c.*64C>T	UNC13D	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 325240	NM_199242.3(UNC13D):c.*18G>A	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 889844	NM_199242.3(UNC13D):c.*3G>A	UNC13D	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 2823895	NM_199242.3(UNC13D):c.3270G>T (p.Pro1090=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 533105	NM_199242.3(UNC13D):c.3270G>A (p.Pro1090=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GBenign/Likely benign
Select item 1446662	NM_199242.3(UNC13D):c.3269C>T (p.Pro1090Leu)	UNC13D (P1090L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1419454	NM_199242.3(UNC13D):c.3268C>T (p.Pro1090Ser)	UNC13D (P1090S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 577329	NM_199242.3(UNC13D):c.3264G>A (p.Pro1088=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 581521	NM_199242.3(UNC13D):c.3263C>T (p.Pro1088Leu)	UNC13D (P1088L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 325241	NM_199242.3(UNC13D):c.3260G>A (p.Arg1087Gln)	UNC13D (R1087Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 841092	NM_199242.3(UNC13D):c.3259C>T (p.Arg1087Trp)	UNC13D (R1087W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2172127	NM_199242.3(UNC13D):c.3254C>A (p.Ala1085Asp)	UNC13D (A1085D)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1921193	NM_199242.3(UNC13D):c.3254C>G (p.Ala1085Gly)	UNC13D (A1085G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 658671	NM_199242.3(UNC13D):c.3254C>T (p.Ala1085Val)	UNC13D (A1085V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 263241	NM_199242.3(UNC13D):c.3252T>C (p.His1084=)	UNC13D	Single nucleotide variant (synonymous variant)	Autoinflammatory syndrome +3 more	GBenign/Likely benign
Select item 2852058	NM_199242.3(UNC13D):c.3249G>A (p.Gln1083=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 571706	NM_199242.3(UNC13D):c.3248A>C (p.Gln1083Pro)	UNC13D (Q1083P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 3186541	NM_199242.3(UNC13D):c.3247C>G (p.Gln1083Glu)	UNC13D (Q1083E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1364181	NM_199242.3(UNC13D):c.3238C>T (p.Gln1080Ter)	UNC13D (Q1080*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1348414	NM_199242.3(UNC13D):c.3236del (p.Lys1079fs)	UNC13D (K1079fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 582209	NM_199242.3(UNC13D):c.3229_3235del (p.Arg1077fs)	UNC13D (R1077fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 639022	NM_199242.3(UNC13D):c.3230G>A (p.Arg1077Gln)	UNC13D (R1077Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 936314	NM_199242.3(UNC13D):c.3224G>T (p.Arg1075Leu)	UNC13D (R1075L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 533102	NM_199242.3(UNC13D):c.3224G>A (p.Arg1075Gln)	UNC13D (R1075Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 325242	NM_199242.3(UNC13D):c.3223C>T (p.Arg1075Trp)	UNC13D (R1075W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 967056	NM_199242.3(UNC13D):c.3220C>T (p.Arg1074Trp)	UNC13D (R1074W)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2005239	NM_199242.3(UNC13D):c.3215G>C (p.Arg1072Thr)	UNC13D (R1072T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2725888	NM_199242.3(UNC13D):c.3210T>C (p.Phe1070=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1510385	NM_199242.3(UNC13D):c.3208T>C (p.Phe1070Leu)	UNC13D (F1070L)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 664728	NM_199242.3(UNC13D):c.3204_3206del (p.Gln1068_Val1069delinsHis)	UNC13D	Deletion (inframe_indel)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2069763	NM_199242.3(UNC13D):c.3204G>C (p.Gln1068His)	UNC13D (Q1068H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2987922	NM_199242.3(UNC13D):c.3201C>T (p.Ala1067=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2859912	NM_199242.3(UNC13D):c.3201C>G (p.Ala1067=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 263240	NM_199242.3(UNC13D):c.3198A>G (p.Glu1066=)	UNC13D	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 2805695	NM_199242.3(UNC13D):c.3195A>G (p.Arg1065=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2804543	NM_199242.3(UNC13D):c.3194del (p.Arg1065fs)	UNC13D (R1065fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 2152739	NM_199242.3(UNC13D):c.3194G>A (p.Arg1065Gln)	UNC13D (R1065Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2736656	NM_199242.3(UNC13D):c.3193C>T (p.Arg1065Ter)	UNC13D (R1065*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 1398554	NM_199242.3(UNC13D):c.3193C>G (p.Arg1065Gly)	UNC13D (R1065G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2134587	NM_199242.3(UNC13D):c.3192C>A (p.Asp1064Glu)	UNC13D (D1064E)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2714803	NM_199242.3(UNC13D):c.3183del (p.Lys1062fs)	UNC13D (K1062fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3	GPathogenic
Select item 1542810	NM_199242.3(UNC13D):c.3183G>C (p.Arg1061=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1023733	NM_199242.3(UNC13D):c.3182G>A (p.Arg1061Gln)	UNC13D (R1061Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1357620	NM_199242.3(UNC13D):c.3181C>T (p.Arg1061Trp)	UNC13D (R1061W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 570304	NM_199242.3(UNC13D):c.3173T>C (p.Leu1058Pro)	UNC13D (L1058P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely pathogenic
Select item 1940079	NM_199242.3(UNC13D):c.3170T>C (p.Leu1057Pro)	UNC13D (L1057P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 464458	NM_199242.3(UNC13D):c.3160A>G (p.Ile1054Val)	UNC13D (I1054V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GUncertain significance
Select item 2869915	NM_199242.3(UNC13D):c.3159A>G (p.Pro1053=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1417801	NM_199242.3(UNC13D):c.3158C>T (p.Pro1053Leu)	UNC13D (P1053L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2803718	NM_199242.3(UNC13D):c.3153G>T (p.Gly1051=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 750034	NM_199242.3(UNC13D):c.3152-4G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 734278	NM_199242.3(UNC13D):c.3152-5C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1416412	NM_199242.3(UNC13D):c.3152-11TC[2]	UNC13D	Microsatellite (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2697322	NM_199242.3(UNC13D):c.3152-8C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2829952	NM_199242.3(UNC13D):c.3152-10C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2703434	NM_199242.3(UNC13D):c.3152-12C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1947898	NM_199242.3(UNC13D):c.3152-14C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2967271	NM_199242.3(UNC13D):c.3152-15C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1429514	NM_199242.3(UNC13D):c.3152-17A>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1897546	NM_199242.3(UNC13D):c.3152-19del	UNC13D	Deletion (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GBenign
Select item 2754444	NM_199242.3(UNC13D):c.3151+18G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2850705	NM_199242.3(UNC13D):c.3151+17G>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2717963	NM_199242.3(UNC13D):c.3151+15A>C	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 2731850	NM_199242.3(UNC13D):c.3151+13C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1012139	NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)	UNC13D (G1051R)	Single nucleotide variant (missense variant)	Autoinflammatory syndrome +2 more	GConflicting classifications of pathogenicity
Select item 946872	NM_199242.3(UNC13D):c.3150C>T (p.Asn1050=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2160093	NM_199242.3(UNC13D):c.3149A>G (p.Asn1050Ser)	UNC13D (N1050S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GUncertain significance
Select item 2693847	NM_199242.3(UNC13D):c.3147C>A (p.Pro1049=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 1476113	NM_199242.3(UNC13D):c.3147del (p.Asn1050fs)	UNC13D (N1050fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis +1 more	GLikely pathogenic
Select item 640068	NM_199242.3(UNC13D):c.3145C>G (p.Pro1049Ala)	UNC13D (P1049A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GUncertain significance
Select item 533097	NM_199242.3(UNC13D):c.3142G>A (p.Ala1048Thr)	UNC13D (A1048T)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2959369	NM_199242.3(UNC13D):c.3141C>T (p.Pro1047=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 325243	NM_199242.3(UNC13D):c.3141C>A (p.Pro1047=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GConflicting classifications of pathogenicity
Select item 3186540	NM_199242.3(UNC13D):c.3140C>T (p.Pro1047Leu)	UNC13D (P1047L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3022329	NM_199242.3(UNC13D):c.3135G>A (p.Thr1045=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 626041	NM_199242.3(UNC13D):c.3134C>T (p.Thr1045Met)	UNC13D (T1045M)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1061114	NM_199242.3(UNC13D):c.3127C>T (p.Pro1043Ser)	UNC13D (P1043S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1694215	NM_199242.3(UNC13D):c.3122G>A (p.Arg1041His)	UNC13D (R1041H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GUncertain significance
Select item 1360647	NM_199242.3(UNC13D):c.3118A>G (p.Thr1040Ala)	UNC13D (T1040A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 2438482	NM_199242.3(UNC13D):c.3103G>A (p.Gly1035Ser)	UNC13D (G1035S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1694214	NM_199242.3(UNC13D):c.3097del (p.Glu1033fs)	UNC13D (E1033fs)	Deletion (frameshift variant)	Autoinflammatory syndrome	GLikely pathogenic
Select item 3331029	NM_199242.3(UNC13D):c.3095A>G (p.Glu1032Gly)	UNC13D (E1032G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3186539	NM_199242.3(UNC13D):c.3092C>G (p.Ser1031Cys)	UNC13D (S1031C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1103684	NM_199242.3(UNC13D):c.3084G>C (p.Leu1028=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 841966	NM_199242.3(UNC13D):c.3082C>G (p.Leu1028Val)	UNC13D (L1028V)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 1155316	NM_199242.3(UNC13D):c.3081G>C (p.Gly1027=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign
Select item 891392	NM_199242.3(UNC13D):c.3080G>C (p.Gly1027Ala)	UNC13D (G1027A)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3	GUncertain significance
Select item 325244	NM_199242.3(UNC13D):c.3079G>A (p.Gly1027Arg)	UNC13D (G1027R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1628733	NM_199242.3(UNC13D):c.3078C>G (p.Pro1026=)	UNC13D	Single nucleotide variant (synonymous variant)	Familial hemophagocytic lymphohistiocytosis 3	GLikely benign

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