ClinVar for MedGen (Select 453059) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3255157	NM_001375765.1(GIGYF1):c.1939G>T (p.Asp647Tyr)	GIGYF1 (D647Y)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3255091	NM_014991.6(WDFY3):c.3403C>T (p.His1135Tyr)	WDFY3 (H1135Y)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3254977	NM_004818.3(DDX23):c.480+2T>C	DDX23	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3254937	NM_014991.6(WDFY3):c.3547C>T (p.Arg1183Ter)	WDFY3 (R1183*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 3254664	NM_002830.4(PTPN4):c.149del (p.Gln50fs)	PTPN4 (Q50fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3254547	NM_001252102.2(KIF21B):c.4670_4671insT (p.Met1559fs)	KIF21B (M1546fs +1 more)	Insertion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252068	NM_025004.3(CCDC15):c.268C>T (p.Arg90Ter)	CCDC15 (R90*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GUncertain significance
Select item 3252067	NM_199141.2(CARM1):c.421A>G (p.Thr141Ala)	CARM1 (T106A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252066	NM_003010.4(MAP2K4):c.947A>T (p.Gln316Leu)	MAP2K4 (Q316L +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252065	NM_020340.5(ARFGEF3):c.3671_3672del (p.His1224fs)	ARFGEF3 (H1224fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252062	NM_004289.7(NFE2L3):c.433G>T (p.Gly145Cys)	NFE2L3 (G145C)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252061	NM_004289.7(NFE2L3):c.79del (p.Arg27fs)	NFE2L3 (R27fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252060	NM_001099270.4(ZBTB34):c.490_491del (p.Pro164fs)	ZBTB34 (P164fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252059	NM_001352913.2(PPP2R5C):c.556T>C (p.Trp186Arg)	PPP2R5C (W131R +4 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252058	NM_001115016.3(KANSL3):c.795A>G (p.Pro265=)	KANSL3	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3252057	NM_001115016.3(KANSL3):c.1409G>T (p.Gly470Val)	KANSL3, LOC126806274 (G242V +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3252056	NM_003837.4(FBP2):c.68G>A (p.Arg23His)	FBP2 (R23H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252053	NM_005915.6(MCM6):c.605A>G (p.Asp202Gly)	MCM6 (D202G)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252052	NM_001326342.2(CELF2):c.221A>G (p.Tyr74Cys)	CELF2 (Y43C +5 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3252051	NM_015902.6(UBR5):c.4791G>T (p.Glu1597Asp)	UBR5 (E1597D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252050	NM_012433.4(SF3B1):c.2107A>C (p.Thr703Pro)	SF3B1 (T703P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252049	NM_001282857.2(XRN1):c.624C>A (p.Asp208Glu)	XRN1 (D208E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3252019	NM_016390.4(SPOUT1):c.940C>T (p.Leu314Phe)	KYAT1-SPOUT1, SPOUT1 (L314F +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3252018	NM_016390.4(SPOUT1):c.1058C>T (p.Thr353Met)	KYAT1-SPOUT1, SPOUT1 (T353M +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 3242264	NM_016390.4(SPOUT1):c.866C>T (p.Thr289Met)	KYAT1-SPOUT1, SPOUT1 (T289M +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3242263	NM_016390.4(SPOUT1):c.741ATC[1] (p.Ser249del)	KYAT1-SPOUT1, SPOUT1 (S249del +1 more)	Microsatellite (inframe_deletion +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3238620	NM_018914.3(PCDHGA11):c.1355T>G (p.Val452Gly)	PCDHG@, PCDHGA1 +17 more (V452G)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3236477	NM_016390.4(SPOUT1):c.1054C>T (p.Arg352Cys)	KYAT1-SPOUT1, SPOUT1 (R352C +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3236476	NM_016390.4(SPOUT1):c.1016A>G (p.Tyr339Cys)	KYAT1-SPOUT1, SPOUT1 (Y339C +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3236475	NM_016390.4(SPOUT1):c.292G>A (p.Gly98Ser)	KYAT1-SPOUT1, SPOUT1 (G547S +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3236474	NM_016390.4(SPOUT1):c.877G>A (p.Gly293Ser)	KYAT1-SPOUT1, SPOUT1 (G293S +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3236473	NM_016390.4(SPOUT1):c.730G>A (p.Gly244Ser)	KYAT1-SPOUT1, SPOUT1 (G244S +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075986	NM_182931.3(KMT2E):c.544dup (p.Glu182fs)	KMT2E (E182fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075966	NM_006421.5(ARFGEF1):c.1203+1G>T	ARFGEF1	Single nucleotide variant (splice donor variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075961	NM_031844.3(HNRNPU):c.1142dup (p.Tyr381Ter)	HNRNPU (Y362* +1 more)	Duplication (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075954	NM_016333.4(SRRM2):c.4537del (p.Gln1513fs)	SRRM2 (Q1513fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075952	NM_001008537.3(NEXMIF):c.1771A>T (p.Lys591Ter)	NEXMIF (K591*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3075951	NM_001348323.3(TRIP12):c.3624+1G>A	TRIP12	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3068685	NM_201599.3(ZMYM3):c.688_699dup (p.Lys233_Pro234insAlaSerGluLys)	ZMYM3	Duplication (inframe_insertion)	Neurodevelopmental disorder	GUncertain significance
Select item 3068680	NM_020706.2(SCAF4):c.3254_3257del (p.Asp1085fs)	SCAF4 (D1063fs +2 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GLikely benign
Select item 3068649	NM_001384528.1(GATAD2A):c.1073A>C (p.Lys358Thr)	GATAD2A (K215T +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3068597	NM_002830.4(PTPN4):c.722T>C (p.Ile241Thr)	PTPN4 (I241T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3068569	NM_003540.4(H4C6):c.96G>C (p.Lys32Asn)	H4C6 (K32N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3067114	NM_001142551.2(WDR47):c.578G>A (p.Arg193His)	WDR47 (R193H +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 3062362	NM_001034173.4(ALDH1L2):c.398C>A (p.Pro133His)	ALDH1L2 (P133H)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 3062029	NM_015378.4(VPS13D):c.5723T>C (p.Ile1908Thr)	VPS13D (I1908T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3061818	NM_207312.3(TUBA3E):c.1277C>A (p.Ala426Glu)	MZT2B, TUBA3E (A426E)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3061811	NM_001252102.2(KIF21B):c.1061T>C (p.Phe354Ser)	KIF21B (F354S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3061810	NM_006035.4(CDC42BPB):c.4471A>G (p.Thr1491Ala)	CDC42BPB (T1465A +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 3061809	NM_017588.3(WDR5):c.354+2dup	WDR5	Duplication (splice donor variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2692529	NM_001382637.1(OTUD7A):c.893+1del	OTUD7A	Deletion (splice donor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2692521	NM_001281775.3(ZMYND8):c.1960_1964del (p.Lys654fs)	ZMYND8 (K634fs +5 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 2683757	NM_001367479.1(DNAH14):c.3697C>T (p.Gln1233Ter)	DNAH14 (Q1233*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627885	NM_014795.4(ZEB2):c.1384_1385del (p.Lys462fs)	ZEB2 (K438fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627884	NM_001375524.1(TRRAP):c.11491G>A (p.Ala3831Thr)	TRRAP (A3788T +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627883	NM_173495.3(PTCHD1):c.2351_2352insCAT (p.Thr784_Lys785insIle)	PTCHD1	Insertion (inframe_insertion)	Neurodevelopmental disorder	GUncertain significance
Select item 2627882	NM_001366521.1(ATP2B1):c.2386G>A (p.Gly796Ser)	ATP2B1 (G609S +7 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627881	NM_000875.5(IGF1R):c.3137_3138del (p.Glu1046fs)	IGF1R (E1045fs +1 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627880	NM_001042750.2(STAG2):c.943T>C (p.Trp315Arg)	STAG2 (W315R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627879	NM_001101.5(ACTB):c.350AGA[1] (p.Lys118del)	ACTB (K118del)	Microsatellite (inframe_deletion)	Neurodevelopmental disorder	GUncertain significance
Select item 2627878	NM_001197104.2(KMT2A):c.9449del (p.Pro3150fs)	KMT2A (P3147fs +2 more)	Deletion (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627877	NM_024989.4(PGAP1):c.1351-1G>T	PGAP1	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627876	NM_001367721.1(CASK):c.38_39del (p.Glu13fs)	CASK (E13fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GPathogenic
Select item 2627875	NM_020944.3(GBA2):c.2330A>C (p.His777Pro)	GBA2 (H777P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627874	NM_170606.3(KMT2C):c.9517+5G>A	KMT2C	Single nucleotide variant (intron variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627873	NM_002576.5(PAK1):c.259G>T (p.Val87Phe)	PAK1 (V87F)	Single nucleotide variant (missense variant +3 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627872	NM_145207.3(AFG2A):c.2174T>C (p.Phe725Ser)	AFG2A (F724S +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627871	NM_016284.5(CNOT1):c.820C>T (p.Arg274Cys)	CNOT1 (R274C)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627870	NM_057175.5(NAA15):c.1410+1G>T	NAA15	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627869	NM_018489.3(ASH1L):c.6136C>T (p.Gln2046Ter)	ASH1L (Q2046* +1 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627868	NM_000048.4(ASL):c.374T>C (p.Met125Thr)	ASL (M125T)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627867	NM_005445.4(SMC3):c.631G>T (p.Ala211Ser)	SMC3 (A211S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627866	NM_052874.5(STX1B):c.821T>C (p.Leu274Pro)	STX1B (L274P)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627865	NM_001330260.2(SCN8A):c.755C>G (p.Ser252Ter)	SCN8A (S252*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder	GPathogenic
Select item 2627864	NM_001197104.2(KMT2A):c.11430-250_11643+240del	KMT2A, TTC36-AS1	Deletion (splice acceptor variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627863	NM_001291415.2(KDM6A):c.1486-2A>G	KDM6A	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627862	NM_182710.3(KAT5):c.1622G>C (p.Ser541Thr)	KAT5, RNASEH2C (S456T +3 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627861	NM_001366521.1(ATP2B1):c.2353G>A (p.Val785Ile)	ATP2B1 (V598I +7 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627860	NM_001375380.1(EBF3):c.135-2A>G	EBF3	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627859	NM_000834.5(GRIN2B):c.1079C>T (p.Pro360Leu)	GRIN2B (P360L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627858	NM_014974.3(DIP2C):c.2232del (p.Tyr745fs)	DIP2C (Y745fs)	Deletion (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627857	NM_003042.4(SLC6A1):c.559A>G (p.Ser187Gly)	SLC6A1 (S187G +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627856	NM_014991.6(WDFY3):c.4592+1G>A	WDFY3	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627855	NM_145059.3(FCSK):c.506G>A (p.Arg169Gln)	FCSK (R169Q)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2627854	NM_145059.3(FCSK):c.3164A>G (p.Asn1055Ser)	FCSK (N1055S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627853	NM_032737.4(LMNB2):c.236C>T (p.Ser79Leu)	LMNB2, LOC130063065 (S79L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627852	NM_032737.4(LMNB2):c.119G>T (p.Arg40Leu)	LMNB2 (R40L)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627851	NM_015100.4(POGZ):c.1535A>G (p.His512Arg)	POGZ (H417R +5 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627850	NM_005392.4(PHF2):c.1475dup (p.Thr493fs)	PHF2 (T493fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627849	NM_020338.4(ZMIZ1):c.3150dup (p.Asp1051fs)	ZMIZ1 (D1051fs)	Duplication (frameshift variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627848	NM_016032.4(ZDHHC9):c.496G>C (p.Asp166His)	ZDHHC9 (D166H)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627847	NM_001197104.2(KMT2A):c.4524G>C (p.Glu1508Asp)	KMT2A (E1508D +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627846	NM_001001344.3(ATP2B3):c.3485C>T (p.Thr1162Met)	ATP2B3 (T1162M)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627845	NM_001127222.2(CACNA1A):c.6780+1G>A	CACNA1A, LOC130063717	Single nucleotide variant (splice donor variant)	Neurodevelopmental disorder	GUncertain significance
Select item 2627844	NM_001366521.1(ATP2B1):c.3110C>G (p.Ser1037Ter)	ATP2B1 (S1024* +7 more)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627843	NM_197968.4(ZMYM2):c.1013T>G (p.Leu338Ter)	ZMYM2 (L251* +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Neurodevelopmental disorder	GPathogenic
Select item 2627842	NM_153252.5(BRWD3):c.3413G>A (p.Trp1138Ter)	BRWD3 (W1138*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2627841	NM_001348800.3(ZBTB20):c.1862T>G (p.Leu621Arg)	ZBTB20 (L548R +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder	GLikely pathogenic
Select item 2627840	NM_001190737.2(NFIB):c.30+1G>A	NFIB	Single nucleotide variant (splice donor variant +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2627839	NM_182641.4(BPTF):c.7747_7750del (p.Asp2583fs)	BPTF (D2566fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder	GLikely pathogenic

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