ClinVar for MedGen (Select 98409) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2570688	NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)	FASN (A418fs)	Microsatellite (frameshift variant)	Hearing impairment +7 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 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 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 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1710149	NM_201599.3(ZMYM3):c.1322G>A (p.Arg441Gln)	ZMYM3 (R441Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1710148	NM_001303512.2(PDZD4):c.2208G>C (p.Lys736Asn)	PDZD4 (K621N +5 more)	Single nucleotide variant (missense variant)	Autism +4 more	GUncertain significance
Select item 1708023	NM_032635.4(TMEM147):c.344+5G>A	TMEM147	Single nucleotide variant (intron variant)	not provided +5 more	GPathogenic/Likely pathogenic
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 1691097	NM_004521.3(KIF5B):c.1610T>C (p.Leu537Pro)	KIF5B (L537P)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GPathogenic
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 1679375	NM_019100.5(DMAP1):c.1024del (p.Glu342fs)	DMAP1 (E342fs)	Deletion (frameshift variant)	Intellectual disability +2 more	GLikely pathogenic
Select item 1679334	NM_005529.7(HSPG2):c.9109C>T (p.Gln3037Ter)	HSPG2 (Q3037* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1679286	NM_005529.7(HSPG2):c.9745C>T (p.Arg3249Cys)	HSPG2 (R3249C +1 more)	Single nucleotide variant (missense variant)	Abnormal facial shape	GUncertain significance
Select item 1679257	NM_019100.5(DMAP1):c.291G>C (p.Trp97Cys)	DMAP1 (W97C)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GUncertain significance
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	EPHA1, EPHB6 +105 more	Copy number loss	Hypertelorism +7 more	GPathogenic
Select item 1299472	NM_001284401.2(TAMM41):c.411+1G>T	TAMM41	Single nucleotide variant (splice donor variant)	Ankle flexion contracture +5 more	GPathogenic
Select item 1299471	NM_001284401.2(TAMM41):c.256T>C (p.Ser86Pro)	TAMM41 (S45P +1 more)	Single nucleotide variant (missense variant +2 more)	Ankle flexion contracture +5 more	GPathogenic
Select item 1047877	GRCh37/hg19 2q31.1-31.3(chr2:171999572-182774361)	PJVK, RBM45 +60 more	Copy number loss	3-4 finger osseus syndactyly +1 more	GPathogenic
Select item 1047868	GRCh37/hg19 12q24.31-24.32(chr12:123878845-126829341)	AACS, ATP6V0A2 +19 more	Copy number loss	Neurodevelopmental delay +2 more	GPathogenic
Select item 983410	NM_016604.4(KDM3B):c.3415G>A (p.Val1139Ile)	KDM3B (V1139I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 983221	NM_022474.4(PALS1):c.1289A>G (p.Glu430Gly)	GPHN, PALS1 (E396G +1 more)	Single nucleotide variant (missense variant)	Intellectual disability +4 more	GPathogenic
Select item 982316	NM_004818.3(DDX23):c.1886T>G (p.Ile629Ser)	DDX23 (I629S)	Single nucleotide variant (missense variant)	Fetal growth restriction +4 more	GConflicting classifications of pathogenicity
Select item 981662	NM_152753.4(SCUBE3):c.2785C>T (p.Arg929Ter)	SCUBE3 (R928* +1 more)	Single nucleotide variant (nonsense)	Abnormality of the dentition +3 more	GPathogenic
Select item 981661	NM_152753.4(SCUBE3):c.2599+2T>C	SCUBE3	Single nucleotide variant (splice donor variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 981660	NM_152753.4(SCUBE3):c.2444T>C (p.Ile815Thr)	SCUBE3 (I814T +1 more)	Single nucleotide variant (missense variant)	Abnormality of the dentition +4 more	GPathogenic/Likely pathogenic
Select item 981659	NM_152753.4(SCUBE3):c.2239+1G>A	LOC126859661, SCUBE3	Single nucleotide variant (splice donor variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 981658	NM_152753.4(SCUBE3):c.1717C>T (p.Arg573Ter)	SCUBE3 (R572* +1 more)	Single nucleotide variant (nonsense)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 981657	NM_152753.4(SCUBE3):c.829+3_952+2del	LOC123620094, SCUBE3	Deletion (splice acceptor variant +1 more)	Abnormality of the dentition +3 more	GPathogenic
Select item 981656	NM_152753.4(SCUBE3):c.611G>A (p.Gly204Asp)	SCUBE3 (G203D +1 more)	Single nucleotide variant (missense variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 981655	NM_152753.4(SCUBE3):c.291C>G (p.Cys97Trp)	SCUBE3 (C97W)	Single nucleotide variant (missense variant)	Abnormality of the dentition +3 more	GPathogenic
Select item 972714	NM_002907.4(RECQL):c.1375G>T (p.Ala459Ser)	RECQL (A459S)	Single nucleotide variant (missense variant)	Abnormal facial shape +2 more	GUncertain significance
Select item 917749	NM_002745.5(MAPK1):c.968C>G (p.Pro323Arg)	MAPK1 (P323R)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917748	NM_002745.5(MAPK1):c.964G>C (p.Glu322Gln)	MAPK1 (E322Q)	Single nucleotide variant (missense variant)	Abnormal facial shape +6 more	GPathogenic
Select item 917746	NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)	MAPK1 (D318G)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917745	NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)	MAPK1 (D318N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917744	NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)	MAPK1 (A174V)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917743	NM_002745.5(MAPK1):c.238C>T (p.His80Tyr)	MAPK1 (H80Y)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 917742	NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)	MAPK1 (I74N)	Single nucleotide variant (missense variant)	Abnormal facial shape +5 more	GPathogenic
Select item 850869	NM_004958.4(MTOR):c.5345A>G (p.His1782Arg)	MTOR (H1782R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 691277	NM_001429.4(EP300):c.2817+186_3262-187delinsTG	EP300, LOC126863158	Indel (splice acceptor variant +1 more)	Abnormal facial shape +2 more	GPathogenic
Select item 638688	NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)	MAP1B (R1790* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9	GPathogenic
Select item 635772	GRCh37/hg19 14q24.1(chr14:68126321-68269053)x3	ZFYVE26, ARG2 +3 more	Copy number gain	Ptosis +3 more	GUncertain significance
Select item 635078	NM_001377142.1(PLCB4):c.1924G>A (p.Asp642Asn)	PLCB4 (D642N +1 more)	Single nucleotide variant (missense variant)	Abnormal facial shape +3 more	GConflicting classifications of pathogenicity
Select item 634993	NM_078471.4(MYO18A):c.2932G>A (p.Ala978Thr)	MYO18A (A978T +3 more)	Single nucleotide variant (missense variant)	Multiple joint contractures +2 more	GUncertain significance
Select item 633774	NM_017714.3(TASP1):c.701C>T (p.Thr234Met)	TASP1 (T234M +2 more)	Single nucleotide variant (missense variant +1 more)	Suleiman-El-Hattab syndrome	GLikely pathogenic
Select item 633602	NM_020975.6(RET):c.2137-31del	RET	Deletion (intron variant)	Megacolon +1 more	GUncertain significance
Select item 631491	NM_001260.3(CDK8):c.185C>A (p.Ser62Ter)	CDK8 (S62*)	Single nucleotide variant (nonsense +1 more)	Ebstein anomaly +6 more	GPathogenic
Select item 625873	NM_001256012.3(MYH10):c.4505G>C (p.Arg1502Pro)	MYH10 (R1502P +3 more)	Single nucleotide variant (missense variant)	Congenital ocular coloboma +6 more	GPathogenic
Select item 624558	NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn)	ADAMTSL2 (D167N)	Single nucleotide variant (missense variant)	Geleophysic dysplasia 1 +1 more	GPathogenic
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Complex neurodevelopmental disorder +19 more	GUncertain significance
Select item 619129	NM_014252.4(SLC25A15):c.388G>A (p.Val130Met)	SLC25A15 (V130M)	Single nucleotide variant (missense variant)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 619128	NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter)	PCDH12, RNF14 (E670*)	Single nucleotide variant (nonsense)	Cerebellar ataxia +3 more	GLikely pathogenic
Select item 617676	NM_032305.3(POLR3GL):c.-41-1G>A	POLR3GL	Single nucleotide variant (splice acceptor variant)	POLR3GL-related disorder	GPathogenic
Select item 617636	NM_032305.3(POLR3GL):c.326-1G>A	LOC129931343, POLR3GL	Single nucleotide variant (splice acceptor variant)	Short stature, oligodontia, dysmorphic facies, and motor delay +4 more	GPathogenic/Likely pathogenic
Select item 599283	NM_002317.7(LOX):c.760G>A (p.Val254Ile)	LOX, SRFBP1 (V254I +1 more)	Single nucleotide variant (missense variant +1 more)	Interphalangeal joint contracture of finger +5 more	GConflicting classifications of pathogenicity
Select item 585297	NM_001348800.3(ZBTB20):c.1955A>T (p.His652Leu)	ZBTB20 (H652L +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal facial shape +4 more	GLikely pathogenic
Select item 560222	NM_033310.3(KCNK4):c.730G>C (p.Ala244Pro)	KCNK4, KCNK4-CATSPERZ (A244P)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal facial shape +4 more	GPathogenic
Select item 560221	NM_033310.3(KCNK4):c.515C>A (p.Ala172Glu)	KCNK4-CATSPERZ, KCNK4 (A172E)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal facial shape +5 more	GPathogenic/Likely pathogenic
Select item 523684	NM_006593.4(TBR1):c.1652dup (p.Gln552fs)	TBR1 (Q552fs)	Duplication (frameshift variant)	Abnormal facial shape +9 more	GLikely pathogenic
Select item 523557	NM_001365088.1(SLC12A6):c.752dup (p.Ser252fs)	SLC12A6 (S252fs +4 more)	Duplication (frameshift variant)	Abnormal facial shape +5 more	GPathogenic/Likely pathogenic
Select item 523552	NM_001854.4(COL11A1):c.4048_4065del (p.Ser1350_Pro1355del)	COL11A1	Deletion (inframe_deletion +1 more)	Telecanthus +7 more	GLikely pathogenic
Select item 523539	NM_031407.7(HUWE1):c.6485G>C (p.Arg2162Pro)	HUWE1 (R2162P)	Single nucleotide variant (missense variant)	Blepharophimosis +7 more	GUncertain significance
Select item 523536	NM_030662.4(MAP2K2):c.514A>G (p.Lys172Glu)	MAP2K2 (K172E)	Single nucleotide variant (missense variant)	Pain +9 more	GUncertain significance
Select item 523522	NM_017780.4(CHD7):c.2867C>A (p.Ser956Ter)	CHD7 (S956*)	Single nucleotide variant (nonsense +1 more)	Atrial septal defect +3 more	GLikely pathogenic
Select item 523500	NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)	KAT6B (T1738I +7 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 523499	NM_012330.4(KAT6B):c.3399_3402del (p.Arg1133fs)	KAT6B (R438fs +7 more)	Deletion (frameshift variant)	Blepharophimosis +9 more	GLikely pathogenic
Select item 523485	NM_005629.4(SLC6A8):c.1208C>T (p.Ala403Val)	SLC6A8 (A403V +2 more)	Single nucleotide variant (missense variant)	Abnormal facial shape +3 more	GLikely pathogenic
Select item 523453	NM_002473.6(MYH9):c.4271A>G (p.Asp1424Gly)	MYH9 (D1424G)	Single nucleotide variant (missense variant)	MYH9-related disorder +10 more	GLikely pathogenic
Select item 523435	NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)	PRMT7 (E108* +2 more)	Single nucleotide variant (nonsense +2 more)	Inborn genetic diseases +17 more	GPathogenic/Likely pathogenic
Select item 523434	NM_019023.5(PRMT7):c.1713C>A (p.Cys571Ter)	PRMT7 (C571* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided +15 more	GPathogenic
Select item 523422	NM_001172509.2(SATB2):c.1990C>T (p.Gln664Ter)	LOC126806462, SATB2 (Q664*)	Single nucleotide variant (nonsense)	Abnormal facial shape +6 more	GLikely pathogenic
Select item 523381	NM_000834.5(GRIN2B):c.2216T>G (p.Met739Arg)	GRIN2B (M739R)	Single nucleotide variant (missense variant)	Abnormal facial shape +10 more	GLikely pathogenic
Select item 523364	NM_000381.4(MID1):c.1765A>G (p.Asn589Asp)	LOC126863207, MID1 (N589D +1 more)	Single nucleotide variant (missense variant)	Abnormal facial shape +4 more	GUncertain significance
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Cryptorchidism +7 more	GUncertain significance
Select item 523295	GRCh37/hg19 Xq28(chrX:153138672-153665655)	ARHGAP4, ATP6AP1 +19 more	Copy number gain	Abnormal facial shape +3 more	GPathogenic
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	MLXIPL, TBL2 +23 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 523260	GRCh37/hg19 17p13.3(chr17:1361431-2573023)	DPH1, HIC1 +25 more	Copy number loss	Abnormal facial shape +2 more	GPathogenic
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	DRC3, DRG2 +20 more	Copy number loss	Abnormal facial shape +14 more	GPathogenic
Select item 523249	GRCh37/hg19 15q11.2(chr15:22765628-23300287)	CYFIP1, NIPA1 +2 more	Copy number loss	Abnormal facial shape +9 more	GPathogenic
Select item 520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B (D32N)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 487654	NM_001791.4(CDC42):c.511G>A (p.Glu171Lys)	CDC42 (E171K)	Single nucleotide variant (missense variant)	Noonan-like syndrome +1 more	GPathogenic
Select item 487653	NM_001791.4(CDC42):c.476C>T (p.Ala159Val)	CDC42 (A159V)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 487652	NM_001791.4(CDC42):c.247T>C (p.Ser83Pro)	CDC42 (S83P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 450370	NM_001791.4(CDC42):c.203G>A (p.Arg68Gln)	CDC42 (R68Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 432071	NM_001791.4(CDC42):c.242G>T (p.Cys81Phe)	CDC42 (C81F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 422537	NM_001791.4(CDC42):c.62T>C (p.Ile21Thr)	CDC42 (I21T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 418123	NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	CEP290, RLIG1 (K2407fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome 14 +9 more	GPathogenic/Likely pathogenic
Select item 375502	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)	EBF3 (E94fs)	Deletion (frameshift variant)	Generalized hypotonia +7 more	GPathogenic
Select item 374158	NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)	NIPBL (G2081A)	Single nucleotide variant (missense variant)	Brachydactyly +3 more	GLikely pathogenic
Select item 374138	NM_005120.3(MED12):c.4342G>A (p.Gly1448Arg)	MED12 (G1448R)	Single nucleotide variant (missense variant)	Expressive language delay +6 more	GLikely pathogenic
Select item 374047	NM_006306.4(SMC1A):c.1996T>C (p.Trp666Arg)	SMC1A (W644R +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +1 more	GUncertain significance
Select item 374034	NM_024757.5(EHMT1):c.2712+1G>A	EHMT1	Single nucleotide variant (splice donor variant)	Difficulty walking +5 more	GPathogenic
Select item 373964	NM_001271.4(CHD2):c.949A>G (p.Ile317Val)	CHD2 (I317V)	Single nucleotide variant (missense variant)	Growth delay +10 more	GLikely benign
Select item 373963	NM_001374353.1(GLI2):c.254G>C (p.Gly85Ala)	GLI2 (G85A)	Single nucleotide variant (missense variant +1 more)	Growth delay +10 more	GLikely benign
Select item 371634	NM_000263.4(NAGLU):c.419A>G (p.Tyr140Cys)	NAGLU (Y140C)	Single nucleotide variant (missense variant)	Mucopolysaccharidosis, MPS-III-B +10 more	GPathogenic/Likely pathogenic

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