C3661900[trait identifier] AND "Genomic Diagnostic Laboratory, Divisio - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 252808	NM_198576.4(AGRN):c.4639G>A (p.Glu1547Lys)	AGRN (E1547K +1 more)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 8 +3 more	GConflicting classifications of pathogenicity
Select item 218832	NM_001170687.4(MIB2):c.-151C>A	LOC129929140, MIB2	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GLikely benign
Select item 218791	NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val)	PRDM16 (A916V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 218544	NM_001199862.2(KCNAB2):c.1183A>G (p.Ile395Val)	KCNAB2 (I347V +3 more)	Single nucleotide variant (missense variant)	KCNAB2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 252694	NM_015215.4(CAMTA1):c.1994G>A (p.Arg665Gln)	CAMTA1 (R665Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252590	NM_001561.6(TNFRSF9):c.166G>A (p.Ala56Thr)	TNFRSF9 (A56T)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 260541	NM_001365951.3(KIF1B):c.184-6_184-5del	KIF1B	Deletion (intron variant)	not specified +4 more	GBenign/Likely benign
Select item 218862	NM_001365951.3(KIF1B):c.2115+6360G>T	KIF1B (M807I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 5210	NM_006610.4(MASP2):c.359A>G (p.Asp120Gly)	MASP2 (D120G)	Single nucleotide variant (missense variant)	MASP2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 218749	NM_001405666.3(NBPF1):c.2666+2T>C	NBPF1	Single nucleotide variant (splice donor variant +1 more)	not specified +1 more	GUncertain significance
Select item 218748	NM_001405666.3(NBPF1):c.1905-6C>A	NBPF1	Single nucleotide variant (intron variant)	not specified +1 more	GUncertain significance
Select item 230243	NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)	SDHB (Q214*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Gastrointestinal stromal tumor +7 more	GConflicting classifications of pathogenicity
Select item 218428	NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)	FUCA1 (W361*)	Single nucleotide variant (nonsense)	FUCA1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 252663	NM_006314.3(CNKSR1):c.851del (p.Pro284fs)	CNKSR1 (P26fs +2 more)	Deletion (frameshift variant)	not specified +2 more	GBenign
Select item 218485	NM_001371928.1(AHDC1):c.3001G>A (p.Ala1001Thr)	AHDC1 (A1001T)	Single nucleotide variant (missense variant)	AHDC1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 252789	NM_153212.3(GJB4):c.507C>G (p.Cys169Trp)	GJB4 (C169W)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 252498	NM_000831.4(GRIK3):c.1268G>A (p.Arg423Gln)	GRIK3 (R423Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 252743	NM_024700.4(SNIP1):c.1158T>G (p.Asp386Glu)	SNIP1 (D386E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 218716	NM_001365999.1(SZT2):c.5345C>T (p.Ala1782Val)	SZT2 (A1725V +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 252550	NM_003738.5(PTCH2):c.1864C>A (p.His622Asn)	PTCH2 (H622N)	Single nucleotide variant (missense variant)	PTCH2-related disorder +3 more	GBenign/Likely benign
Select item 41755	NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)	MUTYH (S515F +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 186129	NM_001048174.2(MUTYH):c.1351G>A (p.Glu451Lys)	MUTYH (E479K +7 more)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GUncertain significance
Select item 134859	NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)	MUTYH (V329M +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +5 more	GConflicting classifications of pathogenicity
Select item 5293	NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)	MUTYH (Y165C +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 132760	NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)	MUTYH	Single nucleotide variant (synonymous variant +2 more)	Familial adenomatous polyposis 2 +3 more	GConflicting classifications of pathogenicity
Select item 2878	NM_174936.4(PCSK9):c.137G>T (p.Arg46Leu)	PCSK9 (R46L)	Single nucleotide variant (missense variant)	Familial hypercholesterolemia +6 more	GBenign/Likely benign
Select item 242027	NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)	PCSK9 (H553R +7 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 218580	NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg)	DOCK7 (K487R)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 218828	NM_001854.4(COL11A1):c.652-6del	COL11A1	Deletion (intron variant)	not provided +6 more	GBenign
Select item 218728	NM_015967.8(PTPN22):c.2250G>C (p.Lys750Asn)	AP4B1-AS1, PTPN22 (K750N +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 218686	NM_001253852.3(AP4B1):c.767C>T (p.Thr256Ile)	AP4B1, AP4B1-AS1 (T256I +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +5 more	GLikely benign
Select item 252668	NM_001253852.3(AP4B1):c.530_531insA (p.Asn178fs)	AP4B1 (N178fs +1 more)	Insertion (frameshift variant +1 more)	not provided	GPathogenic
Select item 252667	NM_001253852.3(AP4B1):c.114-2A>C	AP4B1	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GPathogenic
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 +3 more	GPathogenic/Likely pathogenic
Select item 134987	NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His)	NOTCH2 (L2408H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +5 more	GBenign/Likely benign
Select item 134975	NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His)	NOTCH2 (L1413H)	Single nucleotide variant (missense variant)	Hajdu-Cheney syndrome +3 more	GBenign/Likely benign
Select item 218796	NM_024408.4(NOTCH2):c.7G>T (p.Ala3Ser)	NOTCH2 (A3S)	Single nucleotide variant (missense variant)	Alagille syndrome due to a NOTCH2 point mutation +2 more	GBenign/Likely benign
Select item 252690	NM_015100.4(POGZ):c.3259C>T (p.Arg1087Ter)	POGZ (R1087* +4 more)	Single nucleotide variant (nonsense)	Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome +2 more	GPathogenic/Likely pathogenic
Select item 16320	NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	CCDST, FLG (S761fs)	Microsatellite (frameshift variant)	Eczematoid dermatitis +4 more	GPathogenic/Likely pathogenic
Select item 218687	NM_006617.2(NES):c.1825G>C (p.Glu609Gln)	NES (E609Q)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 129316	NM_002241.5(KCNJ10):c.53G>A (p.Arg18Gln)	KCNJ10 (R18Q)	Single nucleotide variant (missense variant)	not specified +6 more	GConflicting classifications of pathogenicity
Select item 41773	NM_003001.5(SDHC):c.*84G>C	SDHC (E144Q +2 more)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +6 more	GConflicting classifications of pathogenicity
Select item 252767	NM_033343.4(LHX4):c.365G>A (p.Arg122Gln)	LHX4 (R122Q)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 195603	NM_005562.3(LAMC2):c.3206C>T (p.Thr1069Met)	LAMC2 (T1069M)	Single nucleotide variant (missense variant)	Junctional epidermolysis bullosa +2 more	GBenign/Likely benign
Select item 199685	NM_000069.3(CACNA1S):c.2047C>T (p.Arg683Cys)	CACNA1S (R683C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +6 more	GBenign
Select item 252503	NM_001006658.3(CR2):c.3033G>C (p.Gln1011His)	CR2 (Q1011H +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency, common variable, 7 +3 more	GConflicting classifications of pathogenicity
Select item 48395	NM_206933.4(USH2A):c.12295-3T>A	USH2A	Single nucleotide variant (intron variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 179542	NM_206933.4(USH2A):c.8177G>A (p.Gly2726Glu)	USH2A (G2726E)	Single nucleotide variant (missense variant)	Usher syndrome	GUncertain significance FDA Recognized database
Select item 48547	NM_206933.4(USH2A):c.5975A>G (p.Tyr1992Cys)	USH2A (Y1992C)	Single nucleotide variant (missense variant)	USH2A-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 48487	NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)	LOC122152296, USH2A (S841Y)	Single nucleotide variant (missense variant)	Usher syndrome	GBenign FDA Recognized database
Select item 2356	NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)	USH2A (C759F)	Single nucleotide variant (missense variant)	Usher syndrome	GPathogenic FDA Recognized database
Select item 252717	NM_018060.4(IARS2):c.951G>A (p.Lys317=)	IARS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 211989	NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)	RAB3GAP2 (I1354V)	Single nucleotide variant (missense variant)	Martsolf syndrome +4 more	GConflicting classifications of pathogenicity
Select item 252619	NM_003268.6(TLR5):c.2537A>G (p.Asp846Gly)	TLR5 (D846G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 252618	NM_003268.6(TLR5):c.1930A>T (p.Ile644Phe)	TLR5 (I644F)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 252617	NM_003268.6(TLR5):c.1459C>A (p.Leu487Ile)	TLR5 (L487I)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 218605	NM_002296.4(LBR):c.866G>A (p.Gly289Glu)	LBR (G289E)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 218604	NM_002296.4(LBR):c.367-5T>C	LBR	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3645	NM_020247.5(COQ8A):c.993C>T (p.Phe331=)	COQ8A	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 201209	NM_001035.3(RYR2):c.1144G>A (p.Val382Met)	RYR2 (V382M)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GConflicting classifications of pathogenicity
Select item 36746	NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu)	RYR2 (G1885E)	Single nucleotide variant (missense variant)	Catecholaminergic polymorphic ventricular tachycardia +6 more	GBenign
Select item 252509	NM_001035.3(RYR2):c.6232C>T (p.Pro2078Ser)	RYR2 (P2078S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +4 more	GUncertain significance
Select item 43840	NM_001035.3(RYR2):c.9560A>G (p.Lys3187Arg)	RYR2 (K3187R)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 43698	NM_001035.3(RYR2):c.10324-4A>G	RYR2	Single nucleotide variant (intron variant)	RYR2-related disorder +6 more	GConflicting classifications of pathogenicity
Select item 420230	NM_001035.3(RYR2):c.13476+8_13476+11dup	RYR2	Duplication (intron variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 218487	NM_001035.3(RYR2):c.13564-41A>G	RYR2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 218764	NM_020066.5(FMN2):c.2828C>T (p.Pro943Leu)	FMN2 (P947L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 218765	NM_020066.5(FMN2):c.2840C>T (p.Pro947Leu)	FMN2 (P951L +1 more)	Single nucleotide variant (missense variant +1 more)	FMN2-related disorder +2 more	GBenign/Likely benign
Select item 218766	NM_020066.5(FMN2):c.2897T>C (p.Leu966Pro)	FMN2 (L970P +1 more)	Single nucleotide variant (missense variant +1 more)	FMN2-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 218767	NM_020066.5(FMN2):c.3413C>T (p.Ala1138Val)	FMN2 (A1142V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 279808	NM_000143.4(FH):c.1506dup (p.Pro503fs)	FH (P503fs)	Duplication (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 265151	NM_000143.4(FH):c.1500G>A (p.Trp500Ter)	FH (W500*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 393582	NM_000143.4(FH):c.1469del (p.Gly490fs)	FH (G490fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 214427	NM_000143.4(FH):c.1424C>A (p.Ala475Glu)	FH (A475E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214425	NM_000143.4(FH):c.1394A>G (p.Tyr465Cys)	FH (Y465C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 92452	NM_000143.4(FH):c.1293del (p.Glu432fs)	FH	Deletion (frameshift variant)	Fumarase deficiency +3 more	GPathogenic
Select item 92451	NM_000143.4(FH):c.1255T>C (p.Ser419Pro)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 393580	NM_000143.4(FH):c.1209del (p.Phe403fs)	FH (F403fs)	Deletion (frameshift variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 214422	NM_000143.4(FH):c.1189G>A (p.Gly397Arg)	FH (G397R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 167065	NM_000143.4(FH):c.1154C>A (p.Ala385Asp)	FH	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic/Likely pathogenic
Select item 393579	NM_000143.4(FH):c.1138dup (p.Met380fs)	FH (M380fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic
Select item 92448	NM_000143.4(FH):c.1126C>T (p.Gln376Ter)	FH (Q376*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 393578	NM_000143.4(FH):c.1118A>G (p.Asn373Ser)	FH (N373S)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 214374	NM_000143.4(FH):c.1093A>G (p.Ser365Gly)	FH (S365G)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 214399	NM_000143.4(FH):c.1083_1086del (p.Glu362fs)	FH (E362fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 393577	NM_000143.4(FH):c.1063G>T (p.Glu355Ter)	FH (E355*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 393576	NM_000143.4(FH):c.1041del (p.Gly348fs)	FH (G348fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 16235	NM_000143.4(FH):c.1027C>T (p.Arg343Ter)	FH (R343*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic
Select item 393575	NM_000143.4(FH):c.1022A>G (p.Asp341Gly)	FH (D341G)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 92447	NM_000143.4(FH):c.1020T>A (p.Asn340Lys)	FH	Single nucleotide variant (missense variant)	Fumarase deficiency +4 more	GPathogenic/Likely pathogenic
Select item 214417	NM_000143.4(FH):c.965T>G (p.Val322Gly)	FH (V322G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 92458	NM_000143.4(FH):c.952C>T (p.His318Tyr)	FH	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +3 more	GPathogenic/Likely pathogenic
Select item 198391	NM_000143.4(FH):c.912_918del (p.Phe305fs)	FH (F305fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic
Select item 198045	NM_000143.4(FH):c.892G>C (p.Ala298Pro)	FH (A298P)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic/Likely pathogenic
Select item 393574	NM_000143.4(FH):c.823G>C (p.Gly275Arg)	FH (G275R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 393570	NM_000143.4(FH):c.722_738+3del	FH	Deletion (splice donor variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GPathogenic
Select item 393571	NM_000143.4(FH):c.731T>G (p.Leu244Arg)	FH (L244R)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +2 more	GConflicting classifications of pathogenicity
Select item 393569	NM_000143.4(FH):c.703C>G (p.His235Asp)	FH (H235D)	Single nucleotide variant (missense variant)	Hereditary leiomyomatosis and renal cell cancer +1 more	GLikely pathogenic
Select item 16237	NM_000143.4(FH):c.698G>T (p.Arg233Leu)	FH (R233L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic

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