C0026764 - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 373003	NM_002524.5(NRAS):c.183A>T (p.Gln61His)	NRAS (Q61H)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +1 more	GConflicting classifications of pathogenicity
Select item 375874	NM_002524.5(NRAS):c.182A>T (p.Gln61Leu)	NRAS (Q61L)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 280409	NM_002524.5(NRAS):c.182A>C (p.Gln61Pro)	NRAS (Q61P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13900	NM_002524.5(NRAS):c.182A>G (p.Gln61Arg)	NRAS (Q61R)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +3 more	GConflicting classifications of pathogenicity
Select item 73058	NM_002524.5(NRAS):c.181C>A (p.Gln61Lys)	NRAS (Q61K)	Single nucleotide variant (missense variant)	Large congenital melanocytic nevus +2 more	GConflicting classifications of pathogenicity
Select item 375876	NM_002524.5(NRAS):c.38G>T (p.Gly13Val)	NRAS (G13V)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +10 more	GPathogenic/Likely pathogenic
Select item 13901	NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)	NRAS (G13D)	Single nucleotide variant (missense variant)	Acute megakaryoblastic leukemia in down syndrome +2 more	GPathogenic/Likely pathogenic
Select item 13899	NM_002524.5(NRAS):c.37G>C (p.Gly13Arg)	NRAS (G13R)	Single nucleotide variant (missense variant)	Noonan syndrome 6	GLikely pathogenic
Select item 219097	NM_002524.5(NRAS):c.35G>C (p.Gly12Ala)	NRAS (G12A)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 40470	NM_002524.5(NRAS):c.35G>T (p.Gly12Val)	NRAS (G12V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 39648	NM_002524.5(NRAS):c.35G>A (p.Gly12Asp)	NRAS (G12D)	Single nucleotide variant (missense variant)	NRAS-related condition +5 more	GPathogenic/Likely pathogenic
Select item 177778	NM_002524.5(NRAS):c.34G>A (p.Gly12Ser)	NRAS (G12S)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GPathogenic
Select item 40469	NM_002524.5(NRAS):c.34G>C (p.Gly12Arg)	NRAS (G12R)	Single nucleotide variant (missense variant)	Noonan syndrome 6 +2 more	GPathogenic
Select item 40468	NM_002524.5(NRAS):c.34G>T (p.Gly12Cys)	NRAS (G12C)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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 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 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 375889	NM_005896.4(IDH1):c.395G>T (p.Arg132Leu)	IDH1 (R132L)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +14 more	GPathogenic/Likely pathogenic
Select item 156444	NM_005896.4(IDH1):c.395G>A (p.Arg132His)	IDH1 (R132H)	Single nucleotide variant (missense variant)	Metaphyseal chondromatosis +3 more	GPathogenic/Likely pathogenic
Select item 375893	NM_005896.4(IDH1):c.394C>A (p.Arg132Ser)	IDH1 (R132S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375892	NM_005896.4(IDH1):c.394C>G (p.Arg132Gly)	IDH1 (R132G)	Single nucleotide variant (missense variant)	Adenoid cystic carcinoma +14 more	GPathogenic/Likely pathogenic
Select item 375891	NM_005896.4(IDH1):c.394C>T (p.Arg132Cys)	IDH1 (R132C)	Single nucleotide variant (missense variant)	Maffucci syndrome +4 more	GPathogenic/Likely 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 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 800320	NM_016302.4(CRBN):c.1100A>T (p.Asn367Ile)	TRNT1, CRBN (N366I +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Multiple myeloma	GLikely pathogenic
Select item 37055	NM_002468.5(MYD88):c.755T>C (p.Leu252Pro)	MYD88 (L252P +2 more)	Single nucleotide variant (stop lost +1 more)	Pyogenic bacterial infections due to MyD88 deficiency	GUncertain significance
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 800323	NM_004656.4(BAP1):c.1787G>C (p.Ser596Thr)	BAP1 (S596T)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
Select item 376482	NM_006218.4(PIK3CA):c.331A>G (p.Lys111Glu)	PIK3CA (K111E)	Single nucleotide variant (missense variant)	Cowden syndrome 5	GPathogenic
Select item 376484	NM_006218.4(PIK3CA):c.332A>G (p.Lys111Arg)	PIK3CA (K111R)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +10 more	GLikely pathogenic
Select item 376483	NM_006218.4(PIK3CA):c.333G>C (p.Lys111Asn)	PIK3CA (K111N)	Single nucleotide variant (missense variant)	Cowden syndrome	GUncertain significance
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	FGFR3-related chondrodysplasia +32 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)	Thanatophoric dysplasia +4 more	GPathogenic
Select item 800353	NC_000004.12:g.104314621_104314622insG	TET2	Insertion	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 800309	NM_005245.4(FAT1):c.2668G>A (p.Glu890Lys)	FAT1 (E890K)	Single nucleotide variant (missense variant)	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 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 800339	NM_003529.3(H3C1):c.400G>C (p.Glu134Gln)	H3C1 (E134Q)	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 800324	NM_003511.3(H2AC16):c.44C>G (p.Ala15Gly)	H2AC16 (A15G)	Single nucleotide variant (missense variant)	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 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 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 13961	NM_004333.6(BRAF):c.1799T>A (p.Val600Glu)	BRAF (V600E +7 more)	Single nucleotide variant (missense variant)	Vascular malformation +3 more	GPathogenic STier I - Strong
Select item 76687	NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln)	BRAF (L597Q +7 more)	Single nucleotide variant (missense variant)	Prostate adenocarcinoma +3 more	GPathogenic/Likely pathogenic
Select item 13968	NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg)	BRAF (L597R +7 more)	Single nucleotide variant (missense variant)	Melanoma +5 more	GPathogenic/Likely pathogenic
Select item 376375	NM_004333.6(BRAF):c.1787G>A (p.Gly596Asp)	BRAF (G596D +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +3 more	GLikely pathogenic
Select item 40387	NM_004333.6(BRAF):c.1787G>T (p.Gly596Val)	BRAF (G596V +7 more)	Single nucleotide variant (missense variant)	RASopathy	GPathogenic FDA Recognized database
Select item 376374	NM_004333.6(BRAF):c.1786G>A (p.Gly596Ser)	BRAF (G596S +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +3 more	GLikely pathogenic
Select item 375943	NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg)	BRAF (G596R +7 more)	Single nucleotide variant (missense variant)	Multiple myeloma +5 more	GPathogenic/Likely pathogenic
Select item 13972	NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly)	BRAF (D594G +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 375947	NM_004333.6(BRAF):c.1780G>C (p.Asp594His)	BRAF (D594H +7 more)	Single nucleotide variant (missense variant)	Melanoma +9 more	GPathogenic/Likely pathogenic
Select item 44813	NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn)	BRAF (D594N +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 376376	NM_004333.6(BRAF):c.1742A>C (p.Asn581Thr)	BRAF (N581T +7 more)	Single nucleotide variant (missense variant)	Papillary renal cell carcinoma, sporadic +6 more	GConflicting classifications of pathogenicity
Select item 177776	NM_004333.6(BRAF):c.1742A>G (p.Asn581Ser)	BRAF (N581S +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GLikely pathogenic
Select item 55794	NM_004333.6(BRAF):c.1741A>C (p.Asn581His)	BRAF (N581H +7 more)	Single nucleotide variant (missense variant)	BRAF-related condition +1 more	GConflicting classifications of pathogenicity
Select item 44803	NM_004333.6(BRAF):c.1406G>T (p.Gly469Val)	BRAF (G469V +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13974	NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)	BRAF (G469E +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 13971	NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala)	BRAF (G469A +7 more)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 13970	NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)	BRAF (G469R +7 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome +1 more	GPathogenic/Likely pathogenic
Select item 376295	NM_004333.6(BRAF):c.1397G>C (p.Gly466Ala)	BRAF (G466A +7 more)	Single nucleotide variant (missense variant)	Melanoma +6 more	GLikely pathogenic
Select item 376073	NM_004333.6(BRAF):c.1397G>A (p.Gly466Glu)	BRAF (G466E +7 more)	Single nucleotide variant (missense variant)	RASopathy +1 more	GConflicting classifications of pathogenicity
Select item 13967	NM_004333.6(BRAF):c.1397G>T (p.Gly466Val)	BRAF (G466V +7 more)	Single nucleotide variant (missense variant)	Neoplasm of the large intestine +7 more	GPathogenic/Likely 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 800336	NM_170606.3(KMT2C):c.9137T>C (p.Leu3046Pro)	KMT2C (L3046P)	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 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 12611	NM_005343.4(HRAS):c.437C>T (p.Ala146Val)	HRAS, LRRC56 (A146V +1 more)	Single nucleotide variant (missense variant)	Costello syndrome	GLikely pathogenic
Select item 376442	NM_005343.4(HRAS):c.436G>C (p.Ala146Pro)	HRAS, LRRC56 (A146P)	Single nucleotide variant (missense variant +1 more)	Multiple myeloma +5 more	GLikely pathogenic
Select item 12607	NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)	HRAS, LRRC56 (A146T)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +6 more	GPathogenic/Likely pathogenic
Select item 376322	NM_005343.4(HRAS):c.182A>C (p.Gln61Pro)	HRAS, LRRC56 (Q61P)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +13 more	GLikely pathogenic
Select item 376033	NM_005343.4(HRAS):c.182A>T (p.Gln61Leu)	HRAS, LRRC56 (Q61L)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GUncertain significance
Select item 376444	NM_005343.4(HRAS):c.181C>G (p.Gln61Glu)	HRAS, LRRC56 (Q61E)	Single nucleotide variant (missense variant +1 more)	Gastric adenocarcinoma +12 more	GLikely pathogenic
Select item 376443	NM_005343.4(HRAS):c.38G>C (p.Gly13Ala)	HRAS, LRRC56 (G13A)	Single nucleotide variant (missense variant +1 more)	Neoplasm of uterine cervix +9 more	GLikely pathogenic
Select item 180848	NM_005343.4(HRAS):c.38G>T (p.Gly13Val)	HRAS, LRRC56 (G13V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 35554	NM_005343.4(HRAS):c.37G>C (p.Gly13Arg)	HRAS, LRRC56 (G13R)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome and Noonan-related syndrome +3 more	GPathogenic/Likely pathogenic
Select item 12606	NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)	HRAS, LRRC56 (G13C)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 12603	NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)	HRAS, LRRC56 (G12A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +8 more	GPathogenic
Select item 12613	NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)	HRAS, LRRC56 (G12C)	Single nucleotide variant (missense variant +1 more)	Epidermal nevus +6 more	GPathogenic
Select item 12602	NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)	HRAS, LRRC56 (G12S)	Single nucleotide variant (missense variant +1 more)	Costello syndrome	GPathogenic FDA Recognized database
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 800343	NM_000051.4(ATM):c.5005G>A (p.Glu1669Lys)	ATM (E1669K)	Single nucleotide variant (missense variant)	Multiple myeloma	GLikely pathogenic
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 375965	NM_033360.4(KRAS):c.351A>C (p.Lys117Asn)	KRAS (K117N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 45117	NM_004985.5(KRAS):c.183A>T (p.Gln61His)	KRAS (Q61H)	Single nucleotide variant (missense variant)	Malignant neoplasm of body of uterus +14 more	GPathogenic/Likely pathogenic
Select item 45116	NM_004985.5(KRAS):c.182A>T (p.Gln61Leu)	KRAS (Q61L)	Single nucleotide variant (missense variant)	Non-small cell lung carcinoma	GPathogenic
Select item 45122	NM_004985.5(KRAS):c.35G>C (p.Gly12Ala)	KRAS (G12A)	Single nucleotide variant (missense variant)	KRAS-related condition	GLikely pathogenic
Select item 372805	NM_003482.4(KMT2D):c.12844C>T (p.Arg4282Ter)	KMT2D (R4282*)	Single nucleotide variant (nonsense)	Kabuki syndrome 1 +3 more	GPathogenic
Select item 376377	NM_000075.4(CDK4):c.71G>T (p.Arg24Leu)	CDK4 (R24L)	Single nucleotide variant (missense variant)	Multiple myeloma +2 more	GLikely pathogenic
Select item 16929	NM_000075.4(CDK4):c.71G>A (p.Arg24His)	CDK4 (R24H)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GPathogenic
Select item 376378	NM_000075.4(CDK4):c.70C>A (p.Arg24Ser)	CDK4 (R24S)	Single nucleotide variant (missense variant)	Malignant melanoma of skin +2 more	GLikely pathogenic
Select item 16928	NM_000075.4(CDK4):c.70C>T (p.Arg24Cys)	CDK4 (R24C)	Single nucleotide variant (missense variant)	Familial melanoma +3 more	GPathogenic
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 13336	NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)	PTPN11 (E76K +1 more)	Single nucleotide variant (missense variant)	PTPN11 Related Disorders +3 more	GConflicting classifications of pathogenicity
Select item 13339	NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)	PTPN11 (E76A +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 13338	NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)	PTPN11 (E76G +1 more)	Single nucleotide variant (missense variant)	Juvenile myelomonocytic leukemia +2 more	GConflicting classifications of pathogenicity
Select item 40560	NM_002834.5(PTPN11):c.1508G>T (p.Gly503Val)	PTPN11 (G503V +2 more)	Single nucleotide variant (missense variant)	Embryonal rhabdomyosarcoma +5 more	GLikely pathogenic; other
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

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