c.618C>A[varname] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3173961	NM_138697.4(TAS1R1):c.618C>A (p.Phe206Leu)	TAS1R1 (F206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2009386	NM_000302.4(PLOD1):c.618C>A (p.Ile206=)	PLOD1	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, kyphoscoliotic type 1	GLikely benign
Select item 2695242	NM_005216.5(DDOST):c.618C>A (p.Ser206=)	DDOST	Single nucleotide variant (synonymous variant)	Congenital disorder of glycosylation type Ir	GLikely benign
Select item 863704	NM_003738.5(PTCH2):c.618C>A (p.Pro206=)	PTCH2	Single nucleotide variant (synonymous variant)	Gorlin syndrome	GLikely benign
Select item 2593547	NM_003579.4(RAD54L):c.1158C>A (p.Ser386Arg)	RAD54L (S206R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2706472	NM_002633.3(PGM1):c.1209C>A (p.Ala403=)	PGM1	Single nucleotide variant (synonymous variant)	PGM1-congenital disorder of glycosylation	GLikely benign
Select item 862665	NM_000642.3(AGL):c.996C>A (p.His332Gln)	AGL (H316Q +3 more)	Single nucleotide variant (missense variant)	Glycogen storage disease type III	GUncertain significance
Select item 636395	NM_170707.4(LMNA):c.618C>A (p.Phe206Leu)	LMNA (F206L +2 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GLikely pathogenic
Select item 2972634	NM_172362.3(KCNH1):c.618C>A (p.Pro206=)	KCNH1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1752098	NM_022051.3(EGLN1):c.618C>A (p.Gly206=)	EGLN1	Single nucleotide variant (synonymous variant)	Erythrocytosis, familial, 3 +1 more	GLikely benign
Select item 1308233	NM_013247.5(HTRA2):c.618C>A (p.Val206=)	HTRA2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 194617	NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln)	SCN1A (H1009Q +5 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1607663	NM_001875.5(CPS1):c.618C>A (p.Thr206=)	CPS1	Single nucleotide variant (synonymous variant +1 more)	Congenital hyperammonemia, type I	GLikely benign
Select item 2928697	NM_001927.4(DES):c.618C>A (p.Asn206Lys)	DES (N206K)	Single nucleotide variant (missense variant +1 more)	Desmin-related myofibrillar myopathy	GUncertain significance
Select item 1172448	NM_000249.4(MLH1):c.1692C>A (p.Leu564=)	MLH1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1679773	NM_138615.3(DHX30):c.618C>A (p.Asp206Glu)	DHX30 (D167E +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GConflicting classifications of pathogenicity
Select item 2051476	NM_004656.4(BAP1):c.618C>A (p.Ala206=)	BAP1	Single nucleotide variant (synonymous variant)	BAP1-related tumor predisposition syndrome	GLikely benign
Select item 3044782	NM_001395656.1(ROBO2):c.618C>A (p.Thr206=)	ROBO2	Single nucleotide variant (synonymous variant +1 more)	ROBO2-related disorder	GLikely benign
Select item 3109475	NM_001199799.2(ILDR1):c.885C>A (p.Asn295Lys)	ILDR1 (N295K +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2833098	NM_001063.4(TF):c.750C>A (p.Thr250=)	TF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2107941	NM_001312673.2(PCYT1A):c.618C>A (p.Ile206=)	PCYT1A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 791617	NM_012318.3(LETM1):c.618C>A (p.Leu206=)	LETM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2953509	NM_173660.5(DOK7):c.618C>A (p.Thr206=)	DOK7 (Q203K)	Single nucleotide variant (missense variant +2 more)	Congenital myasthenic syndrome 10 +1 more	GLikely benign
Select item 1966168	NM_000812.4(GABRB1):c.618C>A (p.Ile206=)	GABRB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1747533	NM_006206.6(PDGFRA):c.543C>A (p.Thr181=)	PDGFRA	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2810271	NM_001291303.3(FAT4):c.618C>A (p.Gly206=)	FAT4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1023610	NM_001166108.2(PALLD):c.2790C>A (p.Phe930Leu)	CBR4, PALLD (F206L +5 more)	Single nucleotide variant (missense variant)	Pancreatic adenocarcinoma +1 more	GUncertain significance
Select item 682368	NM_001199397.3(NEK1):c.618C>A (p.Gly206=)	NEK1	Single nucleotide variant (synonymous variant +1 more)	Short-rib thoracic dysplasia 6 with or without polydactyly +1 more	GBenign/Likely benign
Select item 846940	NM_198253.3(TERT):c.618C>A (p.Ser206Arg)	TERT (S206R)	Single nucleotide variant (missense variant +1 more)	Idiopathic Pulmonary Fibrosis +1 more	GUncertain significance
Select item 586623	NM_004172.5(SLC1A3):c.954C>A (p.Thr318=)	SLC1A3	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 537682	NM_000038.6(APC):c.618C>A (p.Thr206=)	APC	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1752102	NM_002317.7(LOX):c.618C>A (p.Gly206=)	LOX, SRFBP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 1635746	NM_014244.5(ADAMTS2):c.618C>A (p.Gly206=)	ADAMTS2	Single nucleotide variant (synonymous variant)	Ehlers-Danlos syndrome, dermatosparaxis type	GLikely benign
Select item 1651456	NM_002460.4(IRF4):c.621C>A (p.Gly207=)	IRF4	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1896820	NM_022047.4(DEF6):c.618C>A (p.Ile206=)	DEF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3160538	NM_014454.3(SESN1):c.618C>A (p.Asp206Glu)	ARMC2, SESN1 (D81E +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2001679	NM_000301.5(PLG):c.618C>A (p.Cys206Ter)	PLG (C206*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 142461	NM_000535.7(PMS2):c.1551C>A (p.Ser517Arg)	PMS2 (S517R +7 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +3 more	GConflicting classifications of pathogenicity
Select item 1766408	NM_000535.7(PMS2):c.927C>A (p.Val309=)	PMS2	Single nucleotide variant (synonymous variant +3 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1807283	NM_000162.5(GCK):c.615C>A (p.Asp205Glu)	GCK (D204E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3012223	NM_001220.5(CAMK2B):c.618C>A (p.Ile206=)	CAMK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1752097	NM_005918.4(MDH2):c.618C>A (p.Ile206=)	MDH2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 783145	NM_001061.7(TBXAS1):c.480C>A (p.Asp160Glu)	TBXAS1 (D141E +4 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1402851	NM_000083.3(CLCN1):c.618C>A (p.Tyr206Ter)	CLCN1 (Y206*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal dominant form +1 more	GPathogenic
Select item 1583010	NM_003289.4(TPM2):c.618C>A (p.Ser206=)	TPM2	Single nucleotide variant (synonymous variant +1 more)	Arthrogryposis, distal, type 1A	GLikely benign
Select item 3230927	NM_000264.5(PTCH1):c.1071C>A (p.Ala357=)	PTCH1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1645060	NM_000380.4(XPA):c.618C>A (p.Val206=)	XPA	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 994239	NM_001114753.3(ENG):c.618C>A (p.Gly206=)	ENG	Single nucleotide variant (synonymous variant)	Telangiectasia, hereditary hemorrhagic, type 1	GLikely benign
Select item 1018339	NM_000368.5(TSC1):c.771C>A (p.Ile257=)	TSC1	Single nucleotide variant (synonymous variant)	Tuberous sclerosis syndrome +2 more	GConflicting classifications of pathogenicity
Select item 2615113	NM_014688.5(USP6NL):c.618C>A (p.Phe206Leu)	USP6NL (F157L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3192821	NM_001174096.2(ZEB1):c.885C>A (p.Ser295Arg)	ZEB1 (S203R +11 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1594534	NM_022124.6(CDH23):c.9927C>A (p.Gly3309=)	CDH23	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 598503	NM_000235.4(LIPA):c.618C>A (p.Val206=)	LIPA	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2977031	NM_000141.5(FGFR2):c.963C>A (p.Asp321Glu)	FGFR2 (D321E +3 more)	Single nucleotide variant (missense variant +2 more)	FGFR2-related craniosynostosis	GLikely pathogenic
Select item 1655188	NM_000274.4(OAT):c.939C>A (p.Thr313=)	OAT	Single nucleotide variant (synonymous variant)	Ornithine aminotransferase deficiency	GLikely benign
Select item 1937059	NM_000218.3(KCNQ1):c.1158C>A (p.Asn386Lys)	KCNQ1 (N386K +4 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2495650	NM_176875.4(CCKBR):c.870C>A (p.Ser290Arg)	CCKBR, LOC126861124 (S206R +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615728	NM_000613.3(HPX):c.618C>A (p.Phe206Leu)	HPX (F206L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1474571	NM_004171.4(SLC1A2):c.618C>A (p.Asn206Lys)	SLC1A2 (N197K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3021875	NM_207122.2(EXT2):c.618C>A (p.Pro206=)	EXT2	Single nucleotide variant (synonymous variant)	Exostoses, multiple, type 2	GLikely benign
Select item 636003	NM_004183.4(BEST1):c.936C>A (p.Asp312Glu)	BEST1 (D312E +3 more)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 1428234	NM_002599.5(PDE2A):c.681C>A (p.Asp227Glu)	PDE2A (D206E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 306728	NM_002465.4(MYBPC1):c.750C>A (p.Ile250=)	MYBPC1	Single nucleotide variant (synonymous variant)	Arthrogryposis, distal, type 1B	GBenign
Select item 556660	NM_000277.3(PAH):c.618C>A (p.Tyr206Ter)	PAH (Y206*)	Single nucleotide variant (nonsense)	Phenylketonuria	GPathogenic FDA Recognized database
Select item 3046033	NM_133448.3(TMEM132D):c.618C>A (p.Pro206=)	TMEM132D	Single nucleotide variant (synonymous variant)	TMEM132D-related disorder	GLikely benign
Select item 1413602	NM_018139.3(DNAAF2):c.618C>A (p.Pro206=)	DNAAF2	Single nucleotide variant (synonymous variant)	Primary ciliary dyskinesia	GLikely benign
Select item 2902980	NM_018163.3(DNAJC17):c.618C>A (p.Asn206Lys)	DNAJC17 (N206K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710897	NM_000236.3(LIPC):c.618C>A (p.Ser206Arg)	LIPC (S206R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 718211	NM_022369.4(STRA6):c.645C>A (p.Gly215=)	STRA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 94070	NM_002435.3(MPI):c.678C>A (p.Ala226=)	MPI	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 502115	NM_001145358.2(SIN3A):c.618C>A (p.Gly206=)	SIN3A	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1081107	NM_000126.4(ETFA):c.765C>A (p.Gly255=)	ETFA	Single nucleotide variant (synonymous variant)	Multiple acyl-CoA dehydrogenase deficiency	GLikely benign
Select item 1903834	NM_018671.5(UNC45A):c.663C>A (p.Gly221=)	UNC45A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 65051	NM_000548.5(TSC2):c.585C>A (p.Ile195=)	TSC2	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 49883	NM_000548.5(TSC2):c.618C>A (p.Cys206Ter)	TSC2 (C206* +4 more)	Single nucleotide variant (nonsense)	Tuberous sclerosis syndrome	Gnot provided
Select item 556280	NM_000303.3(PMM2):c.618C>A (p.Phe206Leu)	PMM2 (F206L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GConflicting classifications of pathogenicity
Select item 1539430	NM_182493.3(MYLK3):c.618C>A (p.Pro206=)	MYLK3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2887256	NM_001082486.2(ACD):c.627C>A (p.Ala209=)	ACD	Single nucleotide variant (synonymous variant)	Dyskeratosis congenita, autosomal dominant 6	GLikely benign
Select item 3261540	NM_001082486.2(ACD):c.618C>A (p.His206Gln)	ACD (H203Q +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2782880	NM_001080442.3(SLC38A8):c.618C>A (p.Ser206=)	SLC38A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1532184	NM_177550.5(SLC13A5):c.669C>A (p.Thr223=)	SLC13A5	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 25	GLikely benign
Select item 55110	NM_007294.4(BRCA1):c.4131C>A (p.Ser1377Arg)	BRCA1 (S1377R +48 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2038511	NM_007294.4(BRCA1):c.1002C>A (p.Pro334=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary breast ovarian cancer syndrome	GLikely benign
Select item 1721749	NM_007294.4(BRCA1):c.741C>A (p.Asn247Lys)	BRCA1 (N119K +20 more)	Single nucleotide variant (missense variant +1 more)	Hereditary breast ovarian cancer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1752260	NM_007294.4(BRCA1):c.621C>A (p.Ile207=)	BRCA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2180709	NM_017777.4(MKS1):c.618C>A (p.Ile206=)	MKS1	Single nucleotide variant (synonymous variant)	Meckel-Gruber syndrome +1 more	GLikely benign
Select item 858075	NM_000717.5(CA4):c.618C>A (p.Asp206Glu)	CA4 (D206E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1620332	NM_000152.5(GAA):c.618C>A (p.Ser206=)	GAA	Single nucleotide variant (synonymous variant)	Glycogen storage disease, type II	GLikely benign
Select item 1694224	NM_001366385.1(CARD14):c.1329C>A (p.Ser443Arg)	CARD14 (S206R +1 more)	Single nucleotide variant (missense variant +1 more)	Autoinflammatory syndrome	GUncertain significance
Select item 2971492	NM_001384474.1(LOXHD1):c.4239C>A (p.Cys1413Ter)	LOXHD1 (C206* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 326844	NM_001384474.1(LOXHD1):c.3951C>A (p.Val1317=)	LOXHD1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 77 +1 more	GConflicting classifications of pathogenicity
Select item 2132182	NM_003839.4(TNFRSF11A):c.660C>A (p.Phe220Leu)	TNFRSF11A (F206L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1514826	NM_002579.3(PALM):c.618C>A (p.Tyr206Ter)	PALM (Y206*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1308702	NM_006087.4(TUBB4A):c.834C>A (p.Ser278Arg)	TUBB4A (S206R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2736805	NM_001611.5(ACP5):c.618C>A (p.Tyr206Ter)	ACP5 (Y206*)	Single nucleotide variant (nonsense)	Spondyloenchondrodysplasia with immune dysregulation	GPathogenic
Select item 2877775	NM_032620.4(GTPBP3):c.618C>A (p.Ile206=)	GTPBP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971402	NM_001042545.2(LTBP4):c.618C>A (p.Ser206Arg)	LTBP4 (S206R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1756099	NM_000400.4(ERCC2):c.690C>A (p.Val230=)	ERCC2	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 2227305	NM_003827.4(NAPA):c.618C>A (p.Phe206Leu)	NAPA, NAPA-AS1 (F206L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1973319	NM_017636.4(TRPM4):c.2226C>A (p.Ala742=)	TRPM4	Single nucleotide variant (synonymous variant +1 more)	Progressive familial heart block type IB	GLikely benign

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