ClinVar for MedGen (Select 10122) - ClinVar

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3573959	NM_053056.3(CCND1):c.198+4C>T	CCND1	Single nucleotide variant (intron variant)	Colorectal cancer +2 more	GUncertain significance
Select item 3257758	NM_004333.6(BRAF):c.1798_1799delinsAA	BRAF (V600E +15 more)	Single nucleotide variant (missense variant)	Neoplasm	OOncogenic
Select item 2852759	NM_206937.2(LIG4):c.877C>T (p.Arg293Ter)	LIG4 (R226* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2753565	NM_206937.2(LIG4):c.2585_2586del (p.His862fs)	LIG4 (H795fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2736056	NM_206937.2(LIG4):c.833G>T (p.Arg278Leu)	LIG4 (R211L +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency disease +2 more	GPathogenic
Select item 1423545	NM_206937.2(LIG4):c.724_725del (p.Leu242fs)	LIG4 (L242fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1370122	NM_206937.2(LIG4):c.597_600del (p.Gln200fs)	LIG4 (Q212fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1076150	NM_206937.2(LIG4):c.1746_1750del (p.Glu582fs)	LIG4 (E515fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1040677	NM_206937.2(LIG4):c.1704_1705delinsCG (p.Met569Val)	LIG4 (M569V +2 more)	Indel (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 1029589	NM_206937.2(LIG4):c.2422T>C (p.Ser808Pro)	LIG4 (S808P +2 more)	Single nucleotide variant (missense variant)	Multiple myeloma	GUncertain significance
Select item 1002393	NM_206937.2(LIG4):c.524T>C (p.Ile175Thr)	LIG4 (I108T +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GUncertain significance
Select item 881302	NM_206937.2(LIG4):c.1705A>G (p.Met569Val)	LIG4 (M569V +2 more)	Single nucleotide variant (missense variant)	Multiple myeloma +2 more	GUncertain significance
Select item 844759	NM_206937.2(LIG4):c.381G>C (p.Met127Ile)	LIG4 (M60I +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 834697	NM_206937.2(LIG4):c.691C>T (p.Pro231Ser)	LIG4 (P243S +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 827984	NM_206937.2(LIG4):c.1242A>C (p.Val414=)	LIG4	Single nucleotide variant (synonymous variant)	Multiple myeloma +1 more	GConflicting classifications of pathogenicity
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 significanceFDA 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)	not provided	GUncertain significance
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 665611	NM_206937.2(LIG4):c.712A>G (p.Ile238Val)	LIG4 (I238V +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +1 more	GConflicting classifications of pathogenicity
Select item 640573	NM_206937.2(LIG4):c.1496T>C (p.Val499Ala)	LIG4 (V432A +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 626131	NM_206937.2(LIG4):c.2356G>A (p.Glu786Lys)	LIG4 (E786K +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GUncertain significance
Select item 577575	NM_206937.2(LIG4):c.1882C>T (p.Arg628Trp)	LIG4 (R628W +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GUncertain significance
Select item 533822	NM_206937.2(LIG4):c.1094G>T (p.Cys365Phe)	LIG4 (C365F +2 more)	Single nucleotide variant (missense variant)	Multiple myeloma +3 more	GUncertain significance
Select item 521262	NM_206937.2(LIG4):c.613del (p.Ser205fs)	LIG4 (S205fs +2 more)	Deletion (frameshift variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 505512	NM_206937.2(LIG4):c.879_883del (p.Asn294fs)	LIG4 (N306fs +2 more)	Deletion (frameshift variant)	Multiple myeloma +1 more	GPathogenic/Likely pathogenic
Select item 433158	NM_206937.2(LIG4):c.1345A>C (p.Lys449Gln)	LIG4 (K449Q +2 more)	Single nucleotide variant (missense variant)	DNA ligase IV deficiency +2 more	GConflicting classifications of pathogenicity
Select item 433156	NM_206937.2(LIG4):c.1512_1513del (p.Arg505fs)	LIG4 (R438fs +2 more)	Microsatellite (frameshift variant)	DNA ligase IV deficiency +3 more	GPathogenic
Select item 418659	NM_206937.2(LIG4):c.1904del (p.Lys635fs)	LIG4 (K568fs +2 more)	Deletion (frameshift variant)	DNA ligase IV deficiency +3 more	GPathogenic
Select item 375963	NM_033360.4(KRAS):c.436G>C (p.Ala146Pro)	KRAS (A146P)	Single nucleotide variant (missense variant)	Autoimmune lymphoproliferative syndrome type 4 +1 more	GPathogenic/Likely pathogenic
Select item 372805	NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	KMT2D (R4282*)	Single nucleotide variant (nonsense)	not provided +4 more	GPathogenic OLikely oncogenic
Select item 310991	NM_206937.2(LIG4):c.560T>C (p.Ile187Thr)	LIG4 (I187T +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 310982	NM_206937.2(LIG4):c.1617A>T (p.Leu539Phe)	LIG4 (L539F +2 more)	Single nucleotide variant (missense variant)	Severe combined immunodeficiency due to DCLRE1C deficiency +2 more	GUncertain significance
Select item 310975	NM_206937.2(LIG4):c.2525C>A (p.Ala842Asp)	LIG4 (A842D +2 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 279838	NM_206937.2(LIG4):c.1271_1275del (p.Lys424fs)	LIG4 (K357fs +2 more)	Deletion (frameshift variant)	LIG4-related disorder +3 more	GPathogenic
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 +13 more	GPathogenic/Likely 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 43594	NM_000546.6(TP53):c.817C>T (p.Arg273Cys)	TP53 (R141C +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +5 more	GPathogenic/Likely pathogenic OOncogenic
Select item 37922	NM_000059.4(BRCA2):c.476-1G>A	BRCA2	Single nucleotide variant (splice acceptor variant)	Breast-ovarian cancer, familial, susceptibility to, 2 +2 more	GPathogenic/Likely pathogenic
Select item 16343	t(4;14)(p16.3;q32.3)	FGFR3	Translocation	Multiple myeloma	GPathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	Muenke syndrome +35 more	GPathogenic
Select item 16331	NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)	FGFR3 (K650E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +15 more	GPathogenic
Select item 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +5 more	GPathogenic/Likely pathogenic STier I - Strong OOncogenic
Select item 12366	NM_000546.6(TP53):c.818G>A (p.Arg273His)	TP53 (R273H +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +1 more	GPathogenicFDA Recognized database 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	GPathogenicFDA Recognized database OOncogenic
Select item 7673	NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)	LIG4 (R814* +2 more)	Single nucleotide variant (nonsense)	prenatal LIG4 syndrome with aqueductal stenosis +4 more	GPathogenic/Likely pathogenic
Select item 7672	NM_206937.2(LIG4):c.1738C>T (p.Arg580Ter)	LIG4 (R580* +2 more)	Single nucleotide variant (nonsense)	DNA ligase IV deficiency +2 more	GPathogenic/Likely pathogenic

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Items: 90