ClinVar (all) for Orgtrack (Select 505368) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Orgtrack

Items: 1 to 100 of 530

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1691256	NM_000426.4(LAMA2):c.8989-15T>G	LAMA2	Single nucleotide variant (intron variant)	Merosin deficient congenital muscular dystrophy	GLikely pathogenic
Select item 1684154	NM_145697.3(NUF2):c.908T>C (p.Leu303Pro)	NUF2 (L303P)	Single nucleotide variant (missense variant)	4p partial monosomy syndrome	GUncertain significance
Select item 1339463	NM_007373.4(SHOC2):c.520C>T (p.Leu174Phe)	SHOC2 (L174F)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 1210167	NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)	SPRED2 (R60* +1 more)	Single nucleotide variant (nonsense)	Noonan syndrome +1 more	GPathogenic
Select item 997801	NM_133443.4(GPT2):c.1037+5G>A	GPT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 988761	NM_054027.6(ANKH):c.830C>T (p.Ala277Val)	ANKH (A277V)	Single nucleotide variant (missense variant)	Craniometaphyseal dysplasia, autosomal dominant +1 more	GUncertain significance
Select item 988760	NM_001372044.2(SHANK3):c.3313del (p.Leu1105fs)	SHANK3 (L1105fs)	Deletion (frameshift variant)	Schizophrenia 15 +1 more	GLikely pathogenic
Select item 988759	NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)	ATRX (L601W +1 more)	Single nucleotide variant (missense variant)	Alpha thalassemia-X-linked intellectual disability syndrome	GLikely benign
Select item 988758	NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)	CLCN4 (D44N)	Single nucleotide variant (intron variant +1 more)	Intellectual disability, X-linked 49	GUncertain significance
Select item 988757	NM_015215.4(CAMTA1):c.2460C>A (p.Cys820Ter)	CAMTA1 (C790* +1 more)	Single nucleotide variant (nonsense)	Cerebellar dysfunction with variable cognitive and behavioral abnormalities	GLikely pathogenic
Select item 988756	NM_015981.4(CAMK2A):c.220C>T (p.Arg74Ter)	CAMK2A (R74*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 988755	NM_015559.3(SETBP1):c.1414_1417del (p.Glu472fs)	SETBP1 (E472fs)	Deletion (frameshift variant)	Schinzel-Giedion syndrome +1 more	GLikely pathogenic
Select item 988754	NM_001356.5(DDX3X):c.1574A>G (p.Tyr525Cys)	DDX3X (Y339C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, X-linked 102	GLikely pathogenic
Select item 988753	NM_001353921.2(ARHGEF9):c.1469C>T (p.Pro490Leu)	ARHGEF9 (P301L +10 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 8	GUncertain significance
Select item 988752	NM_006766.5(KAT6A):c.4348_4349del (p.Leu1450fs)	KAT6A (L1450fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 988751	NM_001291415.2(KDM6A):c.3058dup (p.Thr1020fs)	KDM6A (T1020fs +5 more)	Duplication (frameshift variant +1 more)	Kabuki syndrome 2	GLikely pathogenic
Select item 988750	NM_205768.3(ZBTB18):c.244_246dup (p.Pro82_Ala83insPro)	ZBTB18	Duplication (inframe_insertion +1 more)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 988749	NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)	KCNQ5 (N292S)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 46	GLikely pathogenic
Select item 988748	NM_080632.3(UPF3B):c.646_647del (p.Glu216fs)	UPF3B (E216fs)	Microsatellite (frameshift variant)	Syndromic X-linked intellectual disability 14	GLikely pathogenic
Select item 988747	NM_022893.4(BCL11A):c.540_546del (p.Ser181fs)	BCL11A (S147fs +1 more)	Deletion (frameshift variant)	Dias-Logan syndrome	GLikely pathogenic
Select item 988746	NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)	PTCHD1 (Y213C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GConflicting classifications of pathogenicity
Select item 988745	NM_001110556.2(FLNA):c.5621G>C (p.Gly1874Ala)	FLNA (G1866A +1 more)	Single nucleotide variant (missense variant)	Oto-palato-digital syndrome, type I +3 more	GUncertain significance
Select item 988744	NM_006015.6(ARID1A):c.3198+2dup	ARID1A	Duplication (splice donor variant)	Intellectual disability, autosomal dominant 14	GLikely pathogenic
Select item 988743	NM_133433.4(NIPBL):c.432A>C (p.Gln144His)	NIPBL (Q144H)	Single nucleotide variant (missense variant)	Cornelia de Lange syndrome 1	GUncertain significance
Select item 988742	NM_001372044.2(SHANK3):c.4108GAG[1] (p.Glu1371del)	SHANK3 (E1371del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 988741	NM_001321075.3(DLG4):c.210+2del	DLG4	Deletion (splice donor variant)	Intellectual developmental disorder 62	GLikely pathogenic
Select item 988740	NM_173495.3(PTCHD1):c.1975GAA[1] (p.Glu660del)	PTCHD1 (E660del)	Microsatellite (inframe_deletion)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 988739	NM_003070.5(SMARCA2):c.3441C>A (p.Asp1147Glu)	SMARCA2 (D1089E +1 more)	Single nucleotide variant (missense variant)	Nicolaides-Baraitser syndrome	GLikely pathogenic
Select item 988738	NM_005249.5(FOXG1):c.974_975del (p.Thr324_Leu325insTer)	FOXG1	Deletion (nonsense)	Rett syndrome, congenital variant	GLikely pathogenic
Select item 988737	NM_173495.3(PTCHD1):c.1435G>A (p.Glu479Lys)	PTCHD1 (E479K)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4	GUncertain significance
Select item 988736	NM_001374828.1(ARID1B):c.3581_3602del (p.Leu1194fs)	ARID1B (L1141fs +3 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GLikely pathogenic
Select item 988735	NM_133443.4(GPT2):c.1177dup (p.Val393fs)	GPT2 (V293fs +1 more)	Duplication (frameshift variant)	Glutamate pyruvate transaminase 2 deficiency	GLikely pathogenic
Select item 988734	NM_004859.4(CLTC):c.3611del (p.Arg1204fs)	CLTC (R1204fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 56	GLikely pathogenic
Select item 988733	NM_001039591.3(USP9X):c.3410C>T (p.Pro1137Leu)	USP9X (P1137L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 988732	NM_203447.4(DOCK8):c.2400C>A (p.Phe800Leu)	DOCK8 (F732L +1 more)	Single nucleotide variant (missense variant)	Combined immunodeficiency due to DOCK8 deficiency	GUncertain significance
Select item 988731	NM_006662.3(SRCAP):c.7219C>T (p.Gln2407Ter)	SRCAP (Q2407*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 988730	NM_001379110.1(SLC9A6):c.821T>C (p.Ile274Thr)	SLC9A6 (I242T +3 more)	Single nucleotide variant (missense variant)	Christianson syndrome	GUncertain significance
Select item 988729	NM_001278116.2(L1CAM):c.3589G>A (p.Gly1197Arg)	L1CAM (G1188R +2 more)	Single nucleotide variant (missense variant)	Spastic paraplegia	GUncertain significance
Select item 988728	NM_153252.5(BRWD3):c.5345C>A (p.Ser1782Ter)	BRWD3 (S1782*)	Single nucleotide variant (nonsense)	Intellectual disability, X-linked 93	GUncertain significance
Select item 988727	NM_014727.3(KMT2B):c.3596dup (p.Met1202fs)	KMT2B (M1202fs)	Duplication (frameshift variant)	Dystonia 28, childhood-onset	GPathogenic
Select item 988726	NM_012330.4(KAT6B):c.3668A>G (p.Asn1223Ser)	KAT6B (N1040S +7 more)	Single nucleotide variant (missense variant)	Genitopatellar syndrome +1 more	GUncertain significance
Select item 988725	NM_000834.5(GRIN2B):c.895A>G (p.Ile299Val)	GRIN2B (I299V)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6 +1 more	GUncertain significance
Select item 988724	NM_013275.6(ANKRD11):c.3268del (p.Ala1090fs)	ANKRD11 (A1090fs)	Deletion (frameshift variant)	KBG syndrome	GLikely pathogenic
Select item 988723	NM_006766.5(KAT6A):c.1907_1908del (p.Lys636fs)	KAT6A (K636fs)	Deletion (frameshift variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 988722	NM_015570.4(AUTS2):c.1775del (p.Pro592fs)	AUTS2 (P592fs)	Deletion (frameshift variant)	Autism spectrum disorder due to AUTS2 deficiency	GLikely pathogenic
Select item 988721	NM_003482.4(KMT2D):c.3061C>T (p.Pro1021Ser)	KMT2D (P1021S)	Single nucleotide variant (missense variant)	Kabuki syndrome	GLikely benign
Select item 988720	NM_201525.4(ADGRG1):c.1561C>G (p.Pro521Ala)	ADGRG1 (P346A +7 more)	Single nucleotide variant (missense variant)	Polymicrogyria, bilateral perisylvian, autosomal recessive +1 more	GUncertain significance
Select item 988719	NM_022455.4:c.5623-?_c.8091+?del	NSD1	Deletion	Sotos syndrome	GLikely pathogenic
Select item 988718	NM_020699.4(GATAD2B):c.1441C>T (p.Gln481Ter)	GATAD2B (Q481*)	Single nucleotide variant (nonsense)	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	GLikely pathogenic
Select item 988717	NM_003470.3(USP7):c.1097A>C (p.Asp366Ala)	USP7 (D267A +3 more)	Single nucleotide variant (missense variant +1 more)	Hao-Fountain syndrome	GUncertain significance
Select item 988716	NM_022124.6(CDH23):c.2846C>T (p.Thr949Ile)	CDH23 (T949I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 12 +2 more	GUncertain significance
Select item 988715	NM_001379110.1(SLC9A6):c.506T>A (p.Ile169Asn)	SLC9A6 (I137N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 988714	NM_001040142.2(SCN2A):c.1912del (p.Leu638fs)	SCN2A (L638fs)	Deletion (frameshift variant)	Episodic ataxia, type 9 +2 more	GLikely pathogenic
Select item 988713	NM_001190274.2(FBXO11):c.1454A>G (p.Lys485Arg)	FBXO11 (K401R +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 988712	NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp)	PQBP1 (R162W +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 988711	NM_005654.6(NR2F1):c.452T>A (p.Met151Lys)	NR2F1, NR2F1-AS1 (M151K)	Single nucleotide variant (missense variant)	Bosch-Boonstra-Schaaf optic atrophy syndrome	GPathogenic
Select item 988710	NM_001040142.2(SCN2A):c.4822+1G>A	SCN2A	Single nucleotide variant (splice donor variant)	Episodic ataxia, type 9 +2 more	GLikely pathogenic
Select item 988709	NM_001079872.2(CUL4B):c.921_923delinsACC (p.Trp307_Asp308delinsTer)	CUL4B	Indel (nonsense)	X-linked intellectual disability Cabezas type	GLikely pathogenic
Select item 981612	NM_001122681.2(SH3BP2):c.1244G>T (p.Arg415Leu)	SH3BP2 (R415L +2 more)	Single nucleotide variant (missense variant)	Fibrous dysplasia of jaw	GUncertain significance
Select item 981611	NM_007373.4(SHOC2):c.1207A>G (p.Ser403Gly)	SHOC2 (S357G +1 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GLikely benign
Select item 981610	NM_007373.4(SHOC2):c.323C>G (p.Ser108Cys)	SHOC2 (S108C)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981609	NM_007373.4(SHOC2):c.307A>G (p.Met103Val)	SHOC2 (M103V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 981608	NM_007373.4(SHOC2):c.187G>A (p.Gly63Arg)	SHOC2 (G63R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 981607	NM_006912.6(RIT1):c.491C>G (p.Ser164Cys)	RIT1 (S128C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 981606	NM_006912.6(RIT1):c.376G>A (p.Asp126Asn)	RIT1 (D126N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8 +2 more	GUncertain significance
Select item 981605	NM_006912.6(RIT1):c.313C>T (p.Arg105Cys)	RIT1 (R105C +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GUncertain significance
Select item 981604	NM_006912.6(RIT1):c.235C>G (p.Gln79Glu)	RIT1 (Q43E +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 981603	NM_006912.6(RIT1):c.152A>T (p.Asp51Val)	RIT1 (D15V +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981602	NM_006912.6(RIT1):c.131A>T (p.His44Leu)	RIT1 (H44L +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981601	NM_006912.6(RIT1):c.113C>A (p.Thr38Asn)	RIT1 (T2N +2 more)	Single nucleotide variant (missense variant)	Noonan syndrome 8	GLikely pathogenic
Select item 981600	NM_002880.4(RAF1):c.1466T>C (p.Leu489Ser)	RAF1 (L375S +5 more)	Single nucleotide variant (missense variant +1 more)	RASopathy	GUncertain significance
Select item 981599	NM_002880.4(RAF1):c.1432G>A (p.Glu478Lys)	RAF1 (E364K +5 more)	Single nucleotide variant (missense variant +1 more)	Noonan syndrome	GUncertain significance
Select item 981598	NM_002880.4(RAF1):c.1418A>G (p.Asn473Ser)	RAF1 (N359S +5 more)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 981597	NM_152594.3(SPRED1):c.836G>A (p.Ser279Asn)	SPRED1 (S279N)	Single nucleotide variant (missense variant)	Legius syndrome	GUncertain significance
Select item 981596	NM_152594.3(SPRED1):c.563T>C (p.Met188Thr)	SPRED1 (M188T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GUncertain significance
Select item 981595	NM_152594.3(SPRED1):c.282T>G (p.Ile94Met)	SPRED1 (I94M)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981594	NM_152594.3(SPRED1):c.47G>A (p.Arg16Gln)	SPRED1 (R16Q)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 981593	NM_006939.4(SOS2):c.2312_2313insTGTCCT (p.Thr771_Phe772insValLeu)	SOS2	Insertion (inframe_insertion)	Noonan syndrome	GUncertain significance
Select item 981592	NM_006939.4(SOS2):c.1634G>A (p.Arg545His)	SOS2 (R545H)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 981591	NM_006939.4(SOS2):c.1339C>A (p.Pro447Thr)	SOS2 (P447T)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 981590	NM_006939.4(SOS2):c.709C>A (p.Pro237Thr)	SOS2 (P237T)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981589	NM_006939.4(SOS2):c.584G>C (p.Gly195Ala)	SOS2 (G195A)	Single nucleotide variant (missense variant)	Noonan syndrome 9 +1 more	GUncertain significance
Select item 981588	NM_006939.4(SOS2):c.530A>G (p.Asp177Gly)	SOS2 (D177G)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GUncertain significance
Select item 981587	NM_006939.4(SOS2):c.13C>G (p.Pro5Ala)	LOC130055588, SOS2 (P5A)	Single nucleotide variant (missense variant)	Noonan syndrome 9	GLikely benign
Select item 981586	NM_005633.4(SOS1):c.2708A>C (p.Glu903Ala)	SOS1 (E896A +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 981585	NM_005633.4(SOS1):c.2183A>C (p.Lys728Thr)	SOS1 (K721T +1 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 981584	NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)	PTPN11 (I220M +1 more)	Single nucleotide variant (missense variant)	LEOPARD syndrome 1 +2 more	GPathogenic/Likely pathogenic
Select item 981583	NM_002834.5(PTPN11):c.395A>C (p.His132Pro)	PTPN11 (H131P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981582	NM_002834.5(PTPN11):c.387A>C (p.Lys129Asn)	PTPN11 (K128N +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981581	NM_002834.5(PTPN11):c.325T>C (p.Ser109Pro)	PTPN11 (S108P +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome	GUncertain significance
Select item 981580	NM_002834.5(PTPN11):c.265_269del (p.Lys89fs)	PTPN11 (K88fs +1 more)	Deletion (frameshift variant)	RASopathy	GPathogenic
Select item 981579	NM_002834.5(PTPN11):c.186_188del (p.Tyr63del)	PTPN11 (Y62del +1 more)	Deletion (inframe_deletion)	Noonan syndrome	GLikely pathogenic
Select item 981578	NM_002834.5(PTPN11):c.175_186dup (p.Thr59_Tyr62dup)	PTPN11	Duplication (inframe_insertion)	Noonan syndrome	GLikely pathogenic
Select item 981577	NM_002834.5(PTPN11):c.171G>T (p.Gln57His)	PTPN11 (Q56H +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely pathogenic
Select item 981576	NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala)	PTPN11 (T22A)	Single nucleotide variant (missense variant)	RASopathy	GUncertain significance
Select item 981575	NM_002709.3(PPP1CB):c.544A>G (p.Met182Val)	PPP1CB (M182V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981574	NM_002709.3(PPP1CB):c.31C>G (p.Leu11Val)	PPP1CB (L11V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 981573	NM_002524.5(NRAS):c.457G>A (p.Glu153Lys)	NRAS (E153K)	Single nucleotide variant (missense variant)	Noonan syndrome	GUncertain significance
Select item 981572	NM_002524.5(NRAS):c.443C>T (p.Thr148Ile)	NRAS (T148I)	Single nucleotide variant (missense variant)	Noonan syndrome	GLikely benign
Select item 981571	NM_005633.4(SOS1):c.1708_1713del (p.Pro570_Ser571del)	SOS1	Deletion (inframe_deletion)	Noonan syndrome	GLikely pathogenic

<< First< Prev

Page of 6