ClinVar (all) for Orgtrack (Select 507116) - ClinVar

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Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 800354	NM_004119.3(FLT3):c.1714T>C (p.Tyr572His)	FLT3 (Y572H)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800353	NC_000004.12:g.104314621_104314622insG	TET2	Insertion	Multiple myeloma	GLikely pathogenic
Select item 800352	NM_002892.4(ARID4A):c.2614G>T (p.Glu872Ter)	ARID4A (E872*)	Single nucleotide variant (nonsense)	Multiple myeloma	GLikely pathogenic
Select item 800351	NM_001042492.3(NF1):c.5476C>A (p.His1826Asn)	NF1 (H1805N +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800350	NM_001378743.1(CYLD):c.2040dup (p.Asp681fs)	CYLD, CYLD-AS2 (D678fs +3 more)	Duplication (frameshift variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800349	NM_001143676.3(SGK1):c.1379A>G (p.Asn460Ser)	SGK1 (N393S +4 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800348	NM_005475.3(SH2B3):c.1087C>T (p.Pro363Ser)	SH2B3 (P161S +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800347	NM_178129.5(P2RY8):c.869C>G (p.Pro290Arg)	P2RY8 (P290R)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800346	NM_002185.5(IL7R):c.205C>G (p.Leu69Val)	IL7R (L69V)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 104	GUncertain significance FDA Recognized database
Select item 800345	NM_001412.4(EIF1AX):c.295G>A (p.Glu99Lys)	EIF1AX (E99K)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800344	NM_000465.4(BARD1):c.1946_1966del (p.Glu649_Glu655del)	BARD1	Deletion (inframe_deletion +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800343	NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys)	ATM (E1669K)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800342	NM_078626.3(CDKN2C):c.230C>A (p.Ala77Glu)	CDKN2C (A77E)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800341	NM_014953.5(DIS3):c.2335A>T (p.Ile779Phe)	DIS3 (I749F +3 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800340	NM_004260.4(RECQL4):c.3136G>A (p.Glu1046Lys)	RECQL4 (E1046K)	Single nucleotide variant (missense variant)	Baller-Gerold syndrome	GUncertain significance
Select item 800339	NM_003529.3(H3C1):c.400G>C (p.Glu134Gln)	H3C1 (E134Q)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800338	NM_198437.3(AURKA):c.1038C>A (p.Phe346Leu)	AURKA (F346L)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800337	NM_005321.3(H1-4):c.133A>C (p.Thr45Pro)	H1-4 (T45P)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800336	NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro)	KMT2C (L3046P)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800335	NM_001379451.1(BCORL1):c.2242C>T (p.Gln748Ter)	BCORL1 (Q748*)	Single nucleotide variant (nonsense)	Multiple myeloma	GLikely pathogenic
Select item 800334	NM_015474.4(SAMHD1):c.259G>C (p.Glu87Gln)	SAMHD1 (E87Q)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800333	NM_005027.4(PIK3R2):c.850G>A (p.Val284Met)	PIK3R2 (V284M)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800332	NM_001127208.3(TET2):c.1438C>T (p.Pro480Ser)	TET2, TET2-AS1 (P480S)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800331	NM_001400225.1(MGA):c.3733G>C (p.Glu1245Gln)	MGA (E1245Q)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800330	NM_001130145.3(YAP1):c.488C>G (p.Ser163Cys)	YAP1 (S163C)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800329	NM_004690.4(LATS1):c.2449G>A (p.Glu817Lys)	LATS1 (E537K +2 more)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800328	NM_005245.4(FAT1):c.720G>A (p.Met240Ile)	FAT1 (M240I)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800327	NM_006494.4(ERF):c.228G>A (p.Met76Ile)	ERF (M76I +1 more)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800326	NM_022552.5(DNMT3A):c.7G>T (p.Ala3Ser)	DNMT3A (A3S)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800325	NM_006312.6(NCOR2):c.5909C>A (p.Ser1970Tyr)	NCOR2 (S1960Y +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800324	NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)	H2AC16 (A15G)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800323	NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr)	BAP1 (S596T)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800322	NM_005027.4(PIK3R2):c.572C>A (p.Ser191Ter)	LOC130063979, PIK3R2 (S191*)	Single nucleotide variant (nonsense +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800321	NM_002447.4(MST1R):c.1477G>T (p.Asp493Tyr)	MST1R (D493Y)	Single nucleotide variant (missense variant +2 more)	Multiple myeloma	GLikely pathogenic
Select item 800320	NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile)	CRBN, TRNT1 (N366I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Multiple myeloma	GLikely pathogenic
Select item 800319	NM_001378414.1(HDAC4):c.1580C>T (p.Pro527Leu)	HDAC4 (P522L +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800318	NM_004187.5(KDM5C):c.67G>T (p.Glu23Ter)	KDM5C, LOC130068308 (E23*)	Single nucleotide variant (nonsense +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800317	NM_003514.2(H2AC17):c.364G>A (p.Glu122Lys)	H2AC17 (E122K)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800316	NM_001033910.3(TRAF5):c.1254_1257del (p.Glu419fs)	TRAF5 (E419fs +1 more)	Microsatellite (frameshift variant)	Multiple myeloma	GLikely pathogenic
Select item 800315	NM_170606.3(KMT2C):c.9181C>G (p.Gln3061Glu)	KMT2C (Q3061E)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800314	NM_001287491.2(TET3):c.2362G>A (p.Glu788Lys)	TET3 (E788K +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800313	NM_001079668.3(NKX2-1):c.436G>A (p.Ala146Thr)	NKX2-1, SFTA3 (A116T +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800312	NM_001136139.4(TCF3):c.1693G>A (p.Ala565Thr)	TCF3 (A565T)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma	GLikely pathogenic
Select item 800311	NM_002957.6(RXRA):c.671G>A (p.Ser224Asn)	RXRA (S127N +2 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800310	NM_004380.3(CREBBP):c.5188A>G (p.Ile1730Val)	CREBBP (I1692V +1 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 800309	NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)	FAT1 (E890K)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 666272	NM_030662.4(MAP2K2):c.383C>T (p.Pro128Leu)	MAP2K2 (P128L)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 666271	NM_001039396.2(MPEG1):c.661C>A (p.Leu221Ile)	MPEG1 (L221I)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 666270	NM_014727.3(KMT2B):c.1108_1109del (p.Glu370fs)	KMT2B (E370fs)	Deletion (frameshift variant)	Castleman-Kojima disease	GUncertain significance
Select item 666269	NM_152641.4(ARID2):c.3577A>G (p.Thr1193Ala)	ARID2 (T1193A)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 666268	NM_003200.5(TCF3):c.1040A>C (p.Asn347Thr)	TCF3 (N347T)	Single nucleotide variant (missense variant)	Castleman-Kojima disease	GUncertain significance
Select item 638632	NM_021913.5(AXL):c.2161C>G (p.Leu721Val)	AXL (L453V +2 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638631	NM_001080517.3(SETD5):c.2837C>T (p.Pro946Leu)	SETD5 (P946L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 638630	NM_006219.3(PIK3CB):c.2961G>T (p.Glu987Asp)	PIK3CB (E499D +1 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638629	NM_000875.5(IGF1R):c.3464G>A (p.Gly1155Asp)	IGF1R (G1154D +1 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638628	NM_005235.3(ERBB4):c.785G>A (p.Cys262Tyr)	ERBB4 (C262Y)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638627	NM_003073.5(SMARCB1):c.1129C>G (p.Arg377Gly)	SMARCB1 (R377G +3 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638626	NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)	CIC (P1594fs +4 more)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 638625	NM_175635.3(RUNX1T1):c.127A>C (p.Thr43Pro)	RUNX1T1 (T43P +6 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638624	NM_007194.4(CHEK2):c.1421G>T (p.Arg474Leu)	CHEK2 (R474L +4 more)	Single nucleotide variant (missense variant)	Familial cancer of breast	GUncertain significance
Select item 638623	NM_003590.5(CUL3):c.1499G>A (p.Gly500Asp)	CUL3 (G500D +2 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638622	NM_004217.4(AURKB):c.847C>T (p.Arg283Cys)	AURKB (R115C +6 more)	Single nucleotide variant (missense variant +1 more)	NK-cell enteropathy	GLikely pathogenic
Select item 638621	NM_002850.4(PTPRS):c.4756G>A (p.Val1586Met)	PTPRS (V1586M +3 more)	Single nucleotide variant (missense variant)	NK-cell enteropathy	GLikely pathogenic
Select item 638620	NM_000215.4(JAK3):c.1688_1696del (p.Lys563_Cys565del)	JAK3	Deletion (inframe_deletion)	NK-cell enteropathy	GPathogenic
Select item 638281	NM_015559.3(SETBP1):c.1703G>T (p.Ser568Ile)	SETBP1 (S568I)	Single nucleotide variant (missense variant)	Lymphoma	GLikely pathogenic
Select item 638280	NM_003482.4(KMT2D):c.11897_11911del (p.Phe3966_Gln3971delinsTer)	KMT2D	Deletion (nonsense)	Lymphoma	GLikely pathogenic
Select item 638279	NM_003482.4(KMT2D):c.10624_10625del (p.Leu3542fs)	KMT2D (L3542fs)	Microsatellite (frameshift variant)	Kabuki syndrome 1	GPathogenic
Select item 638278	NM_001042424.3(NSD2):c.3295G>A (p.Glu1099Lys)	NSD2 (E1099K)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +14 more	GConflicting classifications of pathogenicity
Select item 638277	NM_005896.4(IDH1):c.784G>A (p.Glu262Lys)	IDH1 (E262K)	Single nucleotide variant (missense variant)	Lymphoma	GUncertain significance
Select item 436618	NM_001754.5(RUNX1):c.259G>T (p.Gly87Cys)	RUNX1 (G87C +1 more)	Single nucleotide variant (missense variant)	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1	GUncertain significance FDA Recognized database
Select item 375963	NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	KRAS (A146P)	Single nucleotide variant (missense variant)	RASopathy +1 more	GPathogenic/Likely pathogenic
Select item 372805	NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	KMT2D (R4282*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1 +4 more	GPathogenic OLikely oncogenic
Select item 182957	NM_000546.6(TP53):c.216dup (p.Val73fs)	TP53 (V34fs +1 more)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 45122	NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	KRAS (G12A)	Single nucleotide variant (missense variant)	KRAS-related disorder +1 more	GLikely pathogenic OOncogenic
Select item 45116	NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	KRAS (Q61L)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma +1 more	GPathogenic OOncogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 12356	NM_000546.6(TP53):c.743G>A (p.Arg248Gln)	TP53 (R248Q +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenic OOncogenic FDA Recognized database
Select item 9861	NM_000044.6(AR):c.1937C>A (p.Ala646Asp)	AR (A114D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity

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Items: 78