ClinVar for MedGen (Select 78797) - ClinVar

Links from MedGen

Items: 86

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3385197	NM_001083116.3(PRF1):c.665A>G (p.His222Arg)	PRF1 (H222R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis	GPathogenic
Select item 3069062	NM_006949.4(STXBP2):c.224_227del (p.Tyr75fs)	STXBP2 (Y43fs +1 more)	Microsatellite (frameshift variant +1 more)	Familial hemophagocytic lymphohistiocytosis	GPathogenic
Select item 2678060	NM_001083116.3(PRF1):c.916G>T (p.Gly306Cys)	PRF1 (G306C)	Single nucleotide variant (missense variant)	Aplastic anemia +1 more	GPathogenic
Select item 2678058	NM_001083116.3(PRF1):c.394G>A (p.Gly132Arg)	PRF1 (G132R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic
Select item 2501020	NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)	UNC13D (Q157*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis	GLikely pathogenic
Select item 2498463	NM_001083116.3(PRF1):c.150del (p.Thr51fs)	PRF1 (T51fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 2445916	NM_001083116.3(PRF1):c.116C>A (p.Pro39His)	PRF1 (P39H)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +1 more	GPathogenic/Likely pathogenic
Select item 2445696	NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)	PRF1 (Q394*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis	GLikely pathogenic
Select item 2136869	NM_001083116.3(PRF1):c.1229G>C (p.Arg410Pro)	PRF1 (R410P)	Single nucleotide variant (missense variant)	Aplastic anemia +2 more	GPathogenic/Likely pathogenic
Select item 2077622	NM_199242.3(UNC13D):c.708del (p.Asp236fs)	UNC13D (D236fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis +1 more	GPathogenic
Select item 2055336	NM_001083116.3(PRF1):c.449C>A (p.Ser150Ter)	PRF1 (S150*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic
Select item 1878417	NM_003764.4(STX11):c.822del (p.Cys275fs)	STX11 (C275fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis	GLikely pathogenic
Select item 1800888	NM_006949.4(STXBP2):c.1697G>A (p.Gly566Asp)	STXBP2 (G563D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1683276	NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg)	PRF1 (C395R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis	GLikely pathogenic
Select item 1518480	NM_199242.3(UNC13D):c.2448-13G>A	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 1476113	NM_199242.3(UNC13D):c.3147del (p.Asn1050fs)	UNC13D (N1050fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GLikely pathogenic
Select item 1331382	NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)	PRF1 (Q481P)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GConflicting classifications of pathogenicity
Select item 1301336	NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)	PRF1 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1192232	NM_001083116.3(PRF1):c.91T>G (p.Cys31Gly)	PRF1 (C31G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis	GPathogenic
Select item 1184438	NM_006949.4(STXBP2):c.902+5G>A	STXBP2	Single nucleotide variant (intron variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1067731	NM_001083116.3(PRF1):c.1228C>T (p.Arg410Trp)	PRF1 (R410W)	Single nucleotide variant (missense variant)	Aplastic anemia +3 more	GPathogenic/Likely pathogenic
Select item 1029054	NM_001083116.3(PRF1):c.1A>G (p.Met1Val)	PRF1 (M1V)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 1027586	NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)	PRF1 (H398fs)	Microsatellite (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 1022083	NM_001083116.3(PRF1):c.895C>T (p.Arg299Cys)	PRF1 (R299C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 1020734	NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)	PRF1 (E545fs)	Duplication (frameshift variant)	Aplastic anemia +2 more	GConflicting classifications of pathogenicity
Select item 1012139	NM_199242.3(UNC13D):c.3151G>A (p.Gly1051Arg)	UNC13D (G1051R)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GConflicting classifications of pathogenicity
Select item 976231	NM_001083116.3(PRF1):c.781G>A (p.Glu261Lys)	PRF1 (E261K)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic
Select item 974965	NM_001083116.3(PRF1):c.985dup (p.Val329fs)	PRF1 (V329fs)	Duplication (frameshift variant)	Familial hemophagocytic lymphohistiocytosis	GLikely pathogenic
Select item 971288	NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)	PRF1 (K285del)	Microsatellite (inframe_deletion)	Familial hemophagocytic lymphohistiocytosis 2 +4 more	GPathogenic
Select item 961631	NM_001083116.3(PRF1):c.658G>A (p.Gly220Ser)	PRF1 (G220S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +2 more	GPathogenic
Select item 929472	NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn)	PRF1 (D340N)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 857426	NM_006949.4(STXBP2):c.247-2A>C	STXBP2 (Q93P)	Single nucleotide variant (missense variant +2 more)	Familial hemophagocytic lymphohistiocytosis +1 more	GLikely pathogenic
Select item 802584	NM_001083116.3(PRF1):c.148G>A (p.Val50Met)	PRF1 (V50M)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic/Likely pathogenic
Select item 667424	NM_001083116.3(PRF1):c.256C>T (p.Gln86Ter)	PRF1 (Q86*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis	GLikely pathogenic
Select item 664792	NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)	UNC13D (Q174*)	Single nucleotide variant (nonsense)	Familial hemophagocytic lymphohistiocytosis +1 more	GPathogenic/Likely pathogenic
Select item 640802	NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln)	STXBP2 (R65Q)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GPathogenic/Likely pathogenic
Select item 632290	NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)	UNC13D (R607P)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 623316	NM_001083116.3(PRF1):c.851_862del (p.Lys284_Lys287del)	PRF1	Deletion (inframe_deletion)	not provided +1 more	GLikely pathogenic
Select item 579782	NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)	STXBP2 (L130S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +2 more	GConflicting classifications of pathogenicity
Select item 548929	NM_001083116.3(PRF1):c.386G>C (p.Trp129Ser)	PRF1 (W129S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic
Select item 538148	NM_006949.4(STXBP2):c.1214G>A (p.Arg405Gln)	STXBP2 (R405Q +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +1 more	GPathogenic/Likely pathogenic
Select item 533095	NM_199242.3(UNC13D):c.118-308C>T	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic/Likely pathogenic
Select item 533094	NM_199242.3(UNC13D):c.1240C>T (p.Arg414Cys)	UNC13D (R414C)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GConflicting classifications of pathogenicity
Select item 520942	NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)	PRF1 (G149S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GPathogenic
Select item 468311	NM_001083116.3(PRF1):c.916G>A (p.Gly306Ser)	PRF1 (G306S)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +3 more	GConflicting classifications of pathogenicity
Select item 468305	NM_001083116.3(PRF1):c.50del (p.Leu17fs)	PRF1 (L17fs)	Deletion (frameshift variant)	Aplastic anemia +5 more	GPathogenic
Select item 445606	NM_199242.3(UNC13D):c.1847A>G (p.Glu616Gly)	UNC13D (E616G)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic
Select item 420155	NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)	UNC13D (R782fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 3 +3 more	GPathogenic
Select item 403500	NM_003764.4(STX11):c.616G>A (p.Glu206Lys)	STX11 (E206K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 369515	NM_003764.3(STX11):c.*4457G>A	STX11	Single nucleotide variant	Familial hemophagocytic lymphohistiocytosis	GLikely benign
Select item 355660	NM_003764.4(STX11):c.4053_4054dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355659	NM_003764.4(STX11):c.*4054dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GBenign
Select item 355650	NM_003764.4(STX11):c.*3336T>C	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355646	NM_003764.4(STX11):c.3103_3104del	STX11	Deletion (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355645	NM_003764.4(STX11):c.*3104del	STX11	Deletion (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355644	NM_003764.4(STX11):c.*3104dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355643	NM_003764.4(STX11):c.*3036ATAA[1]	STX11	Microsatellite (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GLikely benign
Select item 355638	NM_003764.4(STX11):c.*2657TTC[2]	STX11	Microsatellite (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355633	NM_003764.4(STX11):c.*2157GAG[1]	STX11	Microsatellite (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355632	NM_003764.4(STX11):c.*2014del	STX11	Deletion (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355626	NM_003764.4(STX11):c.*1540dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GLikely benign
Select item 355619	NM_003764.4(STX11):c.*1254del	STX11	Deletion (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355618	NM_003764.4(STX11):c.1251_1253dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355617	NM_003764.4(STX11):c.*1253dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355616	NM_003764.4(STX11):c.*1221dup	STX11	Duplication (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GConflicting classifications of pathogenicity
Select item 355612	NM_003764.4(STX11):c.939_942del	STX11	Deletion (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355610	NM_003764.4(STX11):c.*770C>T	STX11	Single nucleotide variant (3 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 355597	NM_003764.4(STX11):c.24_26del (p.Leu9del)	STX11 (L9del)	Deletion (inframe_deletion)	Familial hemophagocytic lymphohistiocytosis 4 +2 more	GUncertain significance
Select item 355596	NM_003764.4(STX11):c.-71C>T	LOC129997366, STX11	Single nucleotide variant (5 prime UTR variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 330559	NM_006949.4(STXBP2):c.1586G>C (p.Arg529Pro)	STXBP2 (R529P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity; association
Select item 330555	NM_006949.4(STXBP2):c.1247-1G>C	STXBP2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 330552	NM_006949.4(STXBP2):c.914A>G (p.Glu305Gly)	STXBP2 (E305G +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +2 more	GConflicting classifications of pathogenicity
Select item 330549	NM_006949.4(STXBP2):c.578+11dup	STXBP2	Duplication (intron variant)	Familial hemophagocytic lymphohistiocytosis	GUncertain significance
Select item 325262	NM_199242.3(UNC13D):c.1596+15C>G	UNC13D	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +1 more	GConflicting classifications of pathogenicity
Select item 300321	NM_001083116.3(PRF1):c.*209del	PRF1	Deletion (3 prime UTR variant)	not specified +2 more	GBenign
Select item 280112	NM_001083116.3(PRF1):c.666C>A (p.His222Gln)	PRF1 (H222Q)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +4 more	GPathogenic/Likely pathogenic
Select item 263226	NM_199242.3(UNC13D):c.2448-8dup	UNC13D	Duplication (intron variant)	Familial hemophagocytic lymphohistiocytosis 3 +2 more	GBenign
Select item 260110	NM_006949.4(STXBP2):c.849G>A (p.Glu283=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GConflicting classifications of pathogenicity
Select item 260105	NM_006949.4(STXBP2):c.495C>T (p.Arg165=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 260104	NM_006949.4(STXBP2):c.38-7C>T	STXBP2	Single nucleotide variant (intron variant)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign
Select item 260094	NM_006949.4(STXBP2):c.1576A>G (p.Ile526Val)	STXBP2 (I526V +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign
Select item 260089	NM_006949.4(STXBP2):c.1443T>C (p.Asp481=)	STXBP2	Single nucleotide variant (synonymous variant +1 more)	Familial hemophagocytic lymphohistiocytosis 5 +3 more	GBenign
Select item 97001	NM_003764.4(STX11):c.173T>C (p.Leu58Pro)	STX11 (L58P)	Single nucleotide variant (missense variant)	Familial hemophagocytic lymphohistiocytosis +2 more	GPathogenic
Select item 30219	NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)	STXBP2 (G541S +2 more)	Single nucleotide variant (missense variant +1 more)	Familial hemophagocytic lymphohistiocytosis +3 more	GPathogenic/Likely pathogenic
Select item 13721	NM_001083116.3(PRF1):c.1090_1091del (p.Leu364fs)	PRF1 (L364fs)	Deletion (frameshift variant)	Aplastic anemia +2 more	GPathogenic
Select item 13711	NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)	PRF1 (R225W)	Single nucleotide variant (missense variant)	Aplastic anemia +5 more	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 86