ClinVar for MedGen (Select 105318) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 255

<< First< Prev

Page of 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335892	NM_144574.4(WDR20):c.432+2718_432+2721dup	WDR20 (V174fs)	Duplication (frameshift variant +2 more)	Global developmental delay +2 more	GUncertain significance
Select item 2571639	NM_001193511.2(MAP3K12):c.1099A>G (p.Ser367Gly)	MAP3K12 (S334G +1 more)	Single nucleotide variant (missense variant)	Falls +1 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 2571623	NM_003112.5(SP4):c.90dup (p.Asn31Ter)	SP4 (N14* +1 more)	Duplication (nonsense +2 more)	Attention deficit hyperactivity disorder +5 more	GUncertain significance
Select item 2570695	NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)	MARK2 (R610L +3 more)	Single nucleotide variant (missense variant)	Seizure +5 more	GUncertain significance
Select item 2570687	NM_005245.4(FAT1):c.11518G>A (p.Val3840Met)	FAT1 (V3840M)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2570686	NM_005245.4(FAT1):c.10513A>T (p.Arg3505Trp)	FAT1 (R3505W)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +4 more	GUncertain significance
Select item 2570682	NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)	DNAH14 (K1136Q)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570681	NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)	DNAH14 (L1746S)	Single nucleotide variant (missense variant)	Seizure +4 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 2570677	NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)	CUL9 (P911L)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +14 more	GUncertain significance
Select item 2570675	NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)	CUL9 (R2413W)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +14 more	GUncertain significance
Select item 2570674	NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)	DHX15 (K443E)	Single nucleotide variant (missense variant)	Seizure +7 more	GUncertain significance
Select item 2570673	NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)	UPF1 (R694W +1 more)	Single nucleotide variant (missense variant)	Mild global developmental delay +5 more	GUncertain significance
Select item 2570671	NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)	CSNK1E, TPTEP2-CSNK1E (R178C)	Single nucleotide variant (missense variant)	Seizure +11 more	GUncertain significance
Select item 2570666	NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)	PDE1B (Q66* +2 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2570665	NM_000924.4(PDE1B):c.735+5G>A	PDE1B	Single nucleotide variant (intron variant)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2570664	NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)	SYVN1 (Y23C)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570663	NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)	SYVN1 (A13V)	Single nucleotide variant (missense variant)	Seizure +8 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 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 2430281	NM_004663.5(RAB11A):c.335A>G (p.His112Arg)	RAB11A (H112R)	Single nucleotide variant (missense variant)	Intellectual disability, mild +6 more	GLikely pathogenic
Select item 1804154	NM_001470.4(GABBR1):c.2018G>A (p.Gly673Asp)	GABBR1 (G496D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804153	NM_001470.4(GABBR1):c.1104G>C (p.Glu368Asp)	GABBR1 (E191D +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804152	NM_001470.4(GABBR1):c.1603G>A (p.Ala535Thr)	GABBR1 (A358T +3 more)	Single nucleotide variant (missense variant)	Global developmental delay +2 more	GLikely pathogenic
Select item 1804147	NM_001470.4(GABBR1):c.1190C>T (p.Ala397Val)	GABBR1 (A220V +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and variable cognitive abnormalities +5 more	GLikely pathogenic
Select item 1804069	NM_207037.2(TCF12):c.381del (p.Gly128fs)	TCF12 (G128fs +2 more)	Deletion (frameshift variant +1 more)	Global developmental delay +1 more	GLikely pathogenic
Select item 1706642	NM_015571.4(SENP6):c.469C>T (p.Arg157Ter)	SENP6 (R157*)	Single nucleotide variant (nonsense +1 more)	Epicanthus +3 more	GLikely benign
Select item 1706640	NM_032199.3(ARID5B):c.1302del (p.Asn434fs)	ARID5B (N191fs +1 more)	Deletion (frameshift variant)	Retrognathia +7 more	GUncertain significance
Select item 1705028	NM_002714.4(PPP1R10):c.1295C>T (p.Ala432Val)	PPP1R10 (A432V)	Single nucleotide variant (missense variant +1 more)	Generalized muscle weakness +3 more	GUncertain significance
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
Select item 1703616	GRCh37/hg19 21q22.3(chr21:42679089-48097372)	ABCG1, ADARB1 +81 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 1703563	GRCh37/hg19 Xp22.33(chrX:372029-1262195)		Copy number loss	Delayed speech and language development	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Hypotonia +18 more	GPathogenic/Likely pathogenic
Select item 1687716	Single allele	FEZF1, GPR37 +38 more	Deletion	Delayed speech and language development	GLikely pathogenic
Select item 1684576	NM_001388485.1(LMTK3):c.189dup (p.Arg64fs)	LMTK3 (R64fs)	Duplication (frameshift variant)	Intellectual disability +2 more	GUncertain significance
Select item 1684526	NM_153827.5(MINK1):c.3206T>G (p.Leu1069Arg)	MINK1 (L1032R +4 more)	Single nucleotide variant (missense variant)	Autism +4 more	GUncertain significance
Select item 1684509	NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)	MTCL3, SOGA3-KIAA0408 (G778R)	Single nucleotide variant (non-coding transcript variant +1 more)	Global developmental delay +6 more	GUncertain significance
Select item 1684507	NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)	SHANK1 (R717*)	Single nucleotide variant (nonsense)	Global developmental delay +4 more	GPathogenic
Select item 1684497	NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)	ZNF236 (K232E +1 more)	Single nucleotide variant (missense variant)	Optic atrophy +3 more	GUncertain significance
Select item 1678525	NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg)	COPB1 (Q701R)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 1330179	GRCh37/hg19 9q33.1-33.2(chr9:117853848-124633077)x1	ASTN2, BRINP1 +19 more	Copy number loss	Intellectual disability, borderline +5 more	GUncertain significance
Select item 1299319	NM_001332.4:c.(1761+1_1762-1)_(3084+1_3085-1)del	CTNND2	Deletion	Delayed speech and language development +1 more	GPathogenic
Select item 1183985	NM_005324.5(H3-3B):c.410_411del (p.Ter137CysextTer?)	H3-3B	Deletion (frameshift variant +1 more)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183984	NM_005324.5(H3-3B):c.155T>A (p.Ile52Asn)	H3-3B (I52N)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 2 +5 more	GPathogenic/Likely pathogenic
Select item 1183983	NM_005324.5(H3-3B):c.68C>A (p.Thr23Lys)	H3-3B (T23K)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183982	NM_005324.5(H3-3B):c.28A>G (p.Lys10Glu)	H3-3B (K10E)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183981	NM_002107.7(H3-3A):c.386G>A (p.Arg129His)	H3-3A (R129H)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1183980	NM_002107.7(H3-3A):c.363G>A (p.Met121Ile)	H3-3A (M121I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1183979	NM_002107.7(H3-3A):c.271G>C (p.Gly91Arg)	H3-3A (G91R)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1	GUncertain significance
Select item 1183978	NM_002107.7(H3-3A):c.166C>A (p.Gln56Lys)	H3-3A (Q56K)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GLikely pathogenic
Select item 1183977	NM_002107.7(H3-3A):c.121C>T (p.Arg41Cys)	H3-3A (R41C)	Single nucleotide variant (missense variant)	Bryant-Li-Bhoj neurodevelopmental syndrome 1 +5 more	GPathogenic/Likely pathogenic
Select item 1047888	GRCh37/hg19 4q26-28.2(chr4:116833638-130232122)	MAD2L1, METTL14 +43 more	Copy number loss	Delayed speech and language development +1 more	GPathogenic
Select item 1047883	GRCh37/hg19 Xp11.4-11.3(chrX:39645568-44199000)	MPC1L, GPR82 +13 more	Copy number loss	Motor delay +2 more	GPathogenic
Select item 1047874	GRCh37/hg19 2q23.1(chr2:149254120-149273345)	MBD5	Copy number loss	Global developmental delay +1 more	GLikely pathogenic
Select item 1047867	GRCh37/hg19 16p13.3(chr16:3784414-3821324)	CREBBP	Copy number loss	Autism +4 more	GPathogenic
Select item 1027649	NM_001190274.2(FBXO11):c.617A>G (p.Tyr206Cys)	FBXO11 (Y122C +1 more)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	GLikely pathogenic
Select item 997086	GRCh37/hg19 22q11.22(chr22:22313128-22556733)	TOP3B	Copy number loss	Delayed speech and language development	GLikely pathogenic
Select item 997084	GRCh37/hg19 1q21.1-21.2(chr1:145818702-149378266)	PPIAL4D, PPIAL4E +15 more	Copy number gain	Delayed speech and language development	GPathogenic
Select item 997083	GRCh37/hg19 1q21.1-21.2(chr1:146506310-147824207)	ACP6, BCL9 +6 more	Copy number loss	Delayed speech and language development	GPathogenic
Select item 997063	GRCh37/hg19 2p16.3(chr2:51172123-51314430)	NRXN1	Copy number loss	Delayed speech and language development	GPathogenic
Select item 997056	GRCh37/hg19 3q29(chr3:195419168-197387258)	UBXN7, BDH1 +24 more	Copy number gain	Delayed speech and language development +1 more	GPathogenic
Select item 997053	GRCh37/hg19 22q11.21(chr22:18894835-21464119)	RIMBP3, RTL10 +45 more	Copy number gain	Atypical behavior +2 more	GPathogenic
Select item 997052	GRCh37/hg19 3p26.3-26.1(chr3:73914-4331711)	CHL1, CNTN4 +5 more	Copy number loss	Autism +1 more	GLikely pathogenic
Select item 997051	GRCh37/hg19 15q11.2(chr15:22765628-23085096)	CYFIP1, NIPA1 +2 more	Copy number loss	Autism +1 more	GPathogenic
Select item 997047	GRCh37/hg19 22q11.21(chr22:18628019-20311763)	CLDN5, CLTCL1 +28 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 997046	GRCh37/hg19 3q29(chr3:195747856-197387258)	SENP5, SLC51A +19 more	Copy number gain	Motor delay +1 more	GPathogenic
Select item 996321	NM_006421.5(ARFGEF1):c.4033C>T (p.Arg1345Ter)	ARFGEF1 (R1345*)	Single nucleotide variant (nonsense)	Intellectual disability +4 more	GPathogenic
Select item 996320	NM_006421.5(ARFGEF1):c.3697C>T (p.Gln1233Ter)	ARFGEF1 (Q1233*)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic
Select item 996319	NM_006421.5(ARFGEF1):c.1942C>T (p.Gln648Ter)	ARFGEF1 (Q648*)	Single nucleotide variant (nonsense)	Global developmental delay +3 more	GPathogenic
Select item 996318	NM_006421.5(ARFGEF1):c.1006del (p.Met336fs)	ARFGEF1 (M336fs)	Deletion (frameshift variant)	Global developmental delay +3 more	GPathogenic
Select item 996317	NM_006421.5(ARFGEF1):c.2395C>T (p.Arg799Ter)	ARFGEF1 (R799*)	Single nucleotide variant (nonsense)	Intellectual disability +3 more	GPathogenic
Select item 996316	NM_006421.5(ARFGEF1):c.2923_2924dup (p.Cys976fs)	ARFGEF1 (C976fs)	Microsatellite (frameshift variant)	Intellectual disability +3 more	GPathogenic
Select item 996315	NM_006421.5(ARFGEF1):c.2158del (p.Leu720fs)	ARFGEF1 (L720fs)	Deletion (frameshift variant)	Intellectual disability +3 more	GPathogenic
Select item 996314	NM_006421.5(ARFGEF1):c.3592-2A>G	ARFGEF1	Single nucleotide variant (splice acceptor variant)	Delayed speech and language development +1 more	GPathogenic
Select item 996313	NM_006421.5(ARFGEF1):c.5320C>T (p.Arg1774Ter)	ARFGEF1 (R1774*)	Single nucleotide variant (nonsense)	Developmental delay, impaired speech, and behavioral abnormalities, with or without seizures +6 more	GPathogenic
Select item 996312	NM_006421.5(ARFGEF1):c.2392G>A (p.Asp798Asn)	ARFGEF1 (D798N)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GPathogenic
Select item 996014	NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)	UNC13A (P814L +1 more)	Single nucleotide variant (missense variant)	Febrile seizure (within the age range of 3 months to 6 years) +5 more	GLikely pathogenic
Select item 985559	NM_005324.5(H3-3B):c.25C>T (p.Arg9Cys)	H3-3B (R9C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 977332	NM_018489.3(ASH1L):c.8487G>T (p.Lys2829Asn)	ASH1L (K2829N +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, mild +2 more	GUncertain significance
Select item 873154	NM_005957.5(MTHFR):c.1517A>G (p.Tyr506Cys)	MTHFR (Y506C +1 more)	Single nucleotide variant (missense variant)	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	GUncertain significance
Select item 872912	NM_022893.4(BCL11A):c.148C>T (p.Gln50Ter)	BCL11A (Q50*)	Single nucleotide variant (nonsense)	Postaxial polydactyly +1 more	GPathogenic
Select item 870372	NM_017825.3(ADPRS):c.639_642del (p.Lys213fs)	ADPRS (K213fs)	Deletion (frameshift variant)	Abdominal distention +8 more	GUncertain significance
Select item 870099	NM_001356.5(DDX3X):c.1746del (p.Ser583fs)	DDX3X (S583fs +2 more)	Deletion (frameshift variant +1 more)	Global developmental delay +2 more	GPathogenic
Select item 816865	NM_003072.5(SMARCA4):c.2900G>A (p.Arg967His)	SMARCA4 (R967H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 813844	GRCh37/hg19 4q13.2(chr4:66969699-69462438)x3	CENPC, GNRHR +10 more	Copy number gain	Delayed speech and language development +1 more	GUncertain significance
Select item 812930	NC_000022.11:g.20042177_20075233del	TANGO2	Deletion	Hereditary episodic ataxia +2 more	GPathogenic
Select item 807299	NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)	AP3B2, CPEB1-AS1 (K262T +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +12 more	GUncertain significance
Select item 692102	NM_001044.5(SLC6A3):c.1139_1150del (p.Gly380_Lys384delinsGlu)	SLC6A3	Deletion (inframe_indel)	Dysphagia +5 more	GUncertain significance
Select item 691768	NM_133443.4(GPT2):c.266A>G (p.Glu89Gly)	GPT2 (E89G)	Single nucleotide variant (5 prime UTR variant +1 more)	Frequent falls +3 more	GUncertain significance
Select item 690374	NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)	H3-3A (P122L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 690365	NM_138691.3(TMC1):c.530T>C (p.Ile177Thr)	TMC1 (I177T)	Single nucleotide variant (missense variant)	Bilateral sensorineural hearing impairment +2 more	GPathogenic
Select item 635771	GRCh37/hg19 12p13.32(chr12:4458971-4614518)x3	C12orf4, FGF23 +2 more	Copy number gain	Delayed speech and language development	GUncertain significance
Select item 635770	GRCh37/hg19 1p31.1(chr1:84264954-84731653)x1	PRKACB, TTLL7	Copy number loss	Delayed speech and language development	GLikely benign
Select item 635769	GRCh37/hg19 7q36.2(chr7:154390339-154546335)x3		Copy number gain	Delayed speech and language development	GUncertain significance
Select item 635768	GRCh37/hg19 12p13.33(chr12:1345909-1476210)x1	ERC1	Copy number loss	Delayed speech and language development	GLikely pathogenic
Select item 635765	GRCh37/hg19 10q26.11(chr10:121430894-121474213)x1	BAG3, INPP5F	Copy number loss	Intellectual disability +1 more	GLikely benign

<< First< Prev

Page of 3