ClinVar for MedGen (Select 13966) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3338230	NM_198465.4(NRK):c.4375C>T (p.Gln1459Ter)	NRK (Q1459*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 3338229	NM_014844.5(TECPR2):c.3905_3918del (p.Val1302fs)	TECPR2 (V1302fs)	Deletion (frameshift variant)	Autism	GPathogenic
Select item 3338228	NM_020683.7(TMIGD3):c.793del (p.Trp265fs)	TMIGD3 (W184fs +2 more)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338227	NM_033278.4(TRIM3):c.1067G>T (p.Arg356Leu)	TRIM3 (R237L +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338226	NM_152906.7(TANGO2):c.459C>G (p.Tyr153Ter)	TANGO2 (Y119* +5 more)	Single nucleotide variant (nonsense +2 more)	Autism	GUncertain significance
Select item 3338225	NM_001193532.3(RAB42):c.223G>A (p.Glu75Lys)	RAB42 (E75K)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338224	NM_014337.4(PPIL2):c.*1255A>G	PPIL2	Single nucleotide variant (3 prime UTR variant +2 more)	Autism	GUncertain significance
Select item 3338223	NR_168285.1(LOC100129697):n.977G>A	CBFA2T3, LOC100129697 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Autism	GUncertain significance
Select item 3338222	NM_001199267.2(DGKZ):c.367-5A>C	DGKZ	Single nucleotide variant (intron variant +1 more)	Autism	GUncertain significance
Select item 3338221	NM_021181.5(SLAMF7):c.953C>A (p.Ser318Ter)	SLAMF7 (S171* +5 more)	Single nucleotide variant (synonymous variant +1 more)	Autism	GUncertain significance
Select item 3338220	NM_078483.4(SLC36A1):c.487_490dup (p.Asp164delinsGlyTer)	SLC36A1	Duplication (nonsense)	Autism	GUncertain significance
Select item 3338219	NM_172365.3(PPP1R36):c.270-1G>C	PPP1R36	Single nucleotide variant (splice acceptor variant)	Autism	GUncertain significance
Select item 3338218	NM_013247.5(HTRA2):c.1156G>T (p.Asp386Tyr)	HTRA2, LOXL3 (D386Y)	Single nucleotide variant (missense variant +3 more)	Autism	GUncertain significance
Select item 3338217	NM_001271838.2(RSRC1):c.109C>T (p.Arg37Ter)	RSRC1 (R37*)	Single nucleotide variant (nonsense)	Autism	GPathogenic
Select item 3338216	NM_173632.4(ZNF776):c.934del (p.Arg312fs)	ZNF776 (R312fs)	Deletion (frameshift variant +2 more)	Autism	GUncertain significance
Select item 3338215	NM_024704.5(KIF16B):c.1910T>C (p.Val637Ala)	KIF16B (V637A +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338214	NM_032780.4(TMEM25):c.614A>G (p.Asn205Ser)	TMEM25 (N101S +1 more)	Single nucleotide variant (missense variant +2 more)	Autism	GUncertain significance
Select item 3338213	NM_015705.6(SGSM3):c.1288G>C (p.Glu430Gln)	SGSM3 (E264Q +3 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338212	NM_001042625.2(CAPSL):c.200G>A (p.Gly67Glu)	CAPSL (G67E)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338211	NM_198320.5(CPM):c.752G>C (p.Gly251Ala)	CPM (G130A +5 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338210	NM_001395254.1(ZNF185):c.1218-2A>G	ZNF185	Single nucleotide variant (splice acceptor variant)	Autism	GUncertain significance
Select item 3338209	NM_001206927.2(DNAH8):c.8159A>T (p.Asp2720Val)	DNAH8 (D2503V +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338208	NM_001172779.2(LRRC34):c.528+1G>A	LRRC34	Single nucleotide variant (splice donor variant)	Autism	GUncertain significance
Select item 3338207	NM_152755.2(CNPY4):c.245+1G>C	CNPY4, TAF6	Single nucleotide variant (splice donor variant)	Autism	GUncertain significance
Select item 3338206	NM_001040616.3(LINS1):c.1116del (p.Glu372fs)	LINS1 (E123fs +2 more)	Deletion (frameshift variant +1 more)	Autism	GPathogenic
Select item 3338205	NM_152564.5(VPS13B):c.1829del (p.Ser610fs)	VPS13B (S610fs)	Deletion (frameshift variant)	Autism	GPathogenic
Select item 3338204	NM_021008.4(DEAF1):c.1112dup (p.Ala372fs)	DEAF1 (A130fs +2 more)	Duplication (frameshift variant)	Autism	GPathogenic
Select item 3338203	NM_175571.4(GIMAP8):c.1953_1954del (p.Gln652fs)	GIMAP8, LOC126860223 (Q652fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338202	NM_001478.5(B4GALNT1):c.1259_1279del (p.His420_Phe426del)	B4GALNT1	Deletion (inframe_deletion)	Autism	GUncertain significance
Select item 3338201	NM_006064.5(RRAGB):c.730T>C (p.Phe244Leu)	RRAGB (F206L +3 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338200	NM_006044.4(HDAC6):c.908A>G (p.Tyr303Cys)	HDAC6 (Y303C +1 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338199	NM_001009931.3(HRNR):c.423_432del (p.Arg142fs)	CCDST, HRNR (R142fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338198	NM_005381.3(NCL):c.1991del (p.Gly664fs)	NCL (G664fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338197	NM_032385.5(FAXDC2):c.915del (p.Thr306fs)	FAXDC2 (T306fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338196	NM_001110792.2(MECP2):c.1234dup (p.Thr412fs)	MECP2 (T177fs +3 more)	Duplication (frameshift variant)	Autism	GLikely pathogenic
Select item 3338195	NM_012216.4(MID2):c.2003A>G (p.Tyr668Cys)	LOC101928335, MID2 (Y618C +3 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338194	NM_002444.3(MSN):c.139C>A (p.Leu47Met)	MSN (L47M)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338193	NM_001303052.2(MYT1L):c.394del (p.Glu132fs)	MYT1L (E132fs)	Deletion (frameshift variant)	Autism	GPathogenic
Select item 3338192	NM_138295.5(PKD1L1):c.1523-2A>G	PKD1L1	Single nucleotide variant (splice acceptor variant)	Autism	GUncertain significance
Select item 3338191	NM_001939.3(DRP2):c.1873A>C (p.Ser625Arg)	DRP2 (S547R +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338190	NM_002364.5(MAGEB2):c.83del (p.Pro28fs)	MAGEB2 (P28fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338189	NM_016366.3(CABP2):c.202G>A (p.Ala68Thr)	CABP2 (A68T)	Single nucleotide variant (synonymous variant +1 more)	Autism	GUncertain significance
Select item 3338188	NM_145294.5(WDR90):c.4489C>T (p.Arg1497Trp)	WDR90 (R1497W)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338187	NM_199351.3(ILDR2):c.1187_1188del (p.Glu396fs)	ILDR2 (E337fs +2 more)	Microsatellite (frameshift variant)	Autism	GUncertain significance
Select item 3338186	NM_018075.5(ANO10):c.1669-1730G>T	ANO10 (C560F)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338185	NC_000006.12:g.47679135G>A	ADGRF2	Single nucleotide variant	Autism	GUncertain significance
Select item 3338184	NM_016605.3(FAM53C):c.256dup (p.Ser86fs)	FAM53C (S76fs +1 more)	Duplication (frameshift variant +1 more)	Autism	GUncertain significance
Select item 3338183	NM_020415.4(RETN):c.12_13del (p.Cys5fs)	RETN (C5fs)	Microsatellite (frameshift variant)	Autism	GUncertain significance
Select item 3338182	NM_001366521.1(ATP2B1):c.2558C>G (p.Ser853Ter)	ATP2B1 (S666* +7 more)	Single nucleotide variant (nonsense +1 more)	Autism	GLikely pathogenic
Select item 3338181	NM_170692.4(RASAL2):c.2236C>A (p.Leu746Ile)	RASAL2 (L605I +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338180	NM_005493.3(RANBP9):c.1735G>C (p.Gly579Arg)	RANBP9 (G579R)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338179	NM_001977.4(ENPEP):c.2671C>T (p.Arg891Ter)	ENPEP (R816* +1 more)	Single nucleotide variant (nonsense +1 more)	Autism	GUncertain significance
Select item 3338178	NM_001195215.2(DENND1B):c.447+1G>T	DENND1B	Single nucleotide variant (splice donor variant)	Autism	GUncertain significance
Select item 3338177	NM_001040142.2(SCN2A):c.2654C>A (p.Thr885Asn)	SCN2A (T885N)	Single nucleotide variant (missense variant)	Autism	GLikely pathogenic
Select item 3338176	NM_153343.4(ENPP6):c.886_887del (p.Met296fs)	ENPP6 (M296fs)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 3338175	NM_004441.5(EPHB1):c.2122T>C (p.Phe708Leu)	EPHB1 (F708L)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 3338174	NM_006133.3(DAGLA):c.647C>G (p.Ser216Ter)	DAGLA (S216*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 3338173	NM_001376571.1(MADD):c.1883A>G (p.Tyr628Cys)	MADD (Y406C +2 more)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 3338172	NM_006514.4(SCN10A):c.937G>T (p.Gly313Ter)	SCN10A (G313*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 3238865	NM_020795.4(NLGN2):c.958G>T (p.Glu320Ter)	NLGN2 (E320*)	Single nucleotide variant (nonsense)	Autism	GUncertain significance
Select item 3233357	NM_001035006.5(RPL17):c.452del (p.Thr151fs)	RPL17, RPL17-C18orf32 (T113fs +3 more)	Deletion (frameshift variant)	High forehead +9 more	GLikely pathogenic
Select item 3188841	NM_022575.4(VPS16):c.2501C>A (p.Ala834Glu)	PTPRA, VPS16 (A690E +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3146125	NM_020665.6(CLTRN):c.137A>T (p.Glu46Val)	CLTRN (E46V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3064025	NM_003024.3(ITSN1):c.2405A>C (p.Glu802Ala)	ITSN1 (E760A +2 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2674596	NM_018323.4(PI4K2B):c.807G>C (p.Trp269Cys)	PI4K2B (W269C)	Single nucleotide variant (missense variant +1 more)	Autism	GUncertain significance
Select item 2672167	NM_017514.5(PLXNA3):c.1691A>G (p.Asn564Ser)	PLXNA3 (N564S)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2672156	NM_001197294.2(DPYSL3):c.655A>C (p.Ile219Leu)	DPYSL3 (I105L +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2664739	NM_016121.5(KCTD3):c.997A>T (p.Asn333Tyr)	KCTD3 (N231Y +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2661571	NM_005462.5(MAGEC1):c.1471_1472insA (p.Leu491fs)	MAGEC1 (L491fs)	Insertion (frameshift variant)	not provided	GLikely benign
Select item 2579716	NM_006154.4(NEDD4):c.291+9303G>A	NEDD4 (D497N)	Single nucleotide variant (missense variant +2 more)	Autism	GUncertain significance
Select item 2579715	NM_003756.3(EIF3H):c.50C>G (p.Ser17Cys)	EIF3H (S17C)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579714	NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)	ZNF292 (D2536N +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, autosomal dominant 64	GBenign
Select item 2579713	NM_005660.3(SLC35A2):c.1069G>C (p.Gly357Arg)	SLC35A2 (G296R +5 more)	Single nucleotide variant (missense variant)	SLC35A2-congenital disorder of glycosylation	GUncertain significance
Select item 2579712	NM_001323289.2(CDKL5):c.2626A>G (p.Ile876Val)	CDKL5 (I876V)	Single nucleotide variant (missense variant)	Autism	GLikely pathogenic
Select item 2579711	NM_001329998.2(TRANK1):c.818A>G (p.Glu273Gly)	TRANK1 (E229G +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579710	NM_001039763.4(TMEM232):c.476A>G (p.Tyr159Cys)	TMEM232 (Y159C)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579709	NM_017727.5(TMEM214):c.937G>A (p.Gly313Ser)	TMEM214 (G268S +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579708	NM_001281956.2(CSMD2):c.5984G>A (p.Arg1995Gln)	CSMD2 (R1955Q +1 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579707	NM_001040118.3(ARAP1):c.2522G>A (p.Trp841Ter)	ARAP1 (W535* +2 more)	Single nucleotide variant (nonsense +1 more)	Autism	GUncertain significance
Select item 2579706	NM_001303512.2(PDZD4):c.923C>T (p.Pro308Leu)	PDZD4 (P193L +5 more)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579705	NM_207307.3(EFCAB12):c.39G>C (p.Leu13Phe)	EFCAB12 (L13F)	Single nucleotide variant (missense variant)	Autism	GUncertain significance
Select item 2579704	NM_001329998.2(TRANK1):c.1088A>G (p.Asn363Ser)	TRANK1 (N319S +1 more)	Single nucleotide variant (missense variant)	Autism	GLikely benign
Select item 2571641	NM_005428.4(VAV1):c.909del (p.Asp303fs)	VAV1 (D271fs +1 more)	Deletion (frameshift variant)	Hearing impairment +10 more	GUncertain significance
Select item 2571640	NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)	ATRN (C132W)	Single nucleotide variant (missense variant +1 more)	Thrombocytopenia +2 more	GUncertain significance
Select item 2571636	NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)	CYFIP1 (A328S +4 more)	Single nucleotide variant (missense variant +1 more)	Autism +5 more	GUncertain significance
Select item 2571633	NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)	BRPF3 (L660F)	Single nucleotide variant (missense variant)	Cranial asymmetry +3 more	GUncertain significance
Select item 2571631	NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)	CYFIP1 (F169L +6 more)	Single nucleotide variant (missense variant)	not specified +6 more	GUncertain significance
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Failure to thrive +10 more	GUncertain significance
Select item 2570679	NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)	TTBK1 (R123*)	Single nucleotide variant (nonsense)	Mild global developmental delay +5 more	GUncertain significance
Select item 2570678	NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)	SPTBN5 (R430C)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +5 more	GUncertain significance
Select item 2570654	NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)	WNK3 (R1287fs +1 more)	Duplication (frameshift variant)	Motor stereotypies +8 more	GLikely pathogenic
Select item 2570649	NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)	CAPRIN1 (Q92*)	Single nucleotide variant (nonsense)	Seizure +3 more	GLikely pathogenic
Select item 2569918	NM_002066.3(GML):c.28A>G (p.Met10Val)	GML (M10V)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 2537941	NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)	SPTBN5 (E2807K)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 2499565	NM_001367943.1(TCF7L2):c.1144C>T (p.Gln382Ter)	TCF7L2 (Q199* +7 more)	Single nucleotide variant (nonsense)	Autism +1 more	GPathogenic
Select item 2499549	NM_018133.4(MSL2):c.1102del (p.Ala368fs)	MSL2 (A294fs +1 more)	Deletion (frameshift variant)	Autism	GUncertain significance
Select item 2468474	NM_006467.3(POLR3G):c.103C>A (p.Pro35Thr)	POLR3G (P35T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321073	NM_024896.3(ERMP1):c.1721A>G (p.His574Arg)	ERMP1 (H574R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281278	NM_012128.4(CLCA4):c.482G>A (p.Arg161Gln)	CLCA4 (R161Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1803984	NM_004973.4(JARID2):c.348G>T (p.Lys116Asn)	JARID2 (K116N)	Single nucleotide variant (5 prime UTR variant +1 more)	Autism +3 more	GLikely pathogenic

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