-88 (C-->T) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 460008	NM_000815.5(GABRD):c.263C>T (p.Thr88Met)	GABRD (T88M)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 289039	NM_015102.5(NPHP4):c.263G>A (p.Arg88Lys)	NPHP4 (R88K)	Single nucleotide variant (5 prime UTR variant +3 more)	Nephronophthisis +1 more	GUncertain significance
Select item 1341628	NM_015557.3(CHD5):c.4498G>A (p.Val1500Met)	CHD5 (V1500M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941512	NM_001042681.2(RERE):c.263G>A (p.Arg88Lys)	RERE (R88K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496218	NM_005026.5(PIK3CD):c.262C>T (p.Arg88Cys)	PIK3CD (R88C)	Single nucleotide variant (missense variant)	Immunodeficiency 14	GUncertain significance
Select item 537328	NM_007375.4(TARDBP):c.263C>T (p.Thr88Ile)	TARDBP (T88I)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis type 10 +1 more	GUncertain significance
Select item 3129189	NM_153213.5(ARHGEF19):c.262G>A (p.Glu88Lys)	ARHGEF19 (E88K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115401	NM_152375.3(KLHDC7A):c.262C>T (p.Arg88Trp)	KLHDC7A (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351636	NM_152376.5(UBXN10):c.262C>T (p.Pro88Ser)	UBXN10 (P88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 295544	NM_000478.6(ALPL):c.534C>T (p.Tyr178=)	ALPL	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1343485	NM_000478.6(ALPL):c.1541C>T (p.Ala514Val)	ALPL (A437V +2 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1344987	NM_005529.7(HSPG2):c.12364G>A (p.Ala4122Thr)	HSPG2 (A4122T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3107410	NM_005529.7(HSPG2):c.12292G>A (p.Gly4098Ser)	HSPG2 (G4098S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173061	NM_001193308.2(SYTL1):c.262C>T (p.Arg88Cys)	SYTL1 (R88C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235250	NM_005248.3(FGR):c.88G>A (p.Ala30Thr)	FGR (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135215	NM_018045.8(BSDC1):c.88G>A (p.Glu30Lys)	BSDC1 (E30K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322121	NM_001625.4(AK2):c.262G>A (p.Glu88Lys)	AK2 (E40K +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2279813	NM_178548.4(TFAP2E):c.263C>T (p.Ala88Val)	TFAP2E, TFAP2E-AS1 (A88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349454	NM_032881.3(LSM10):c.262G>A (p.Val88Met)	LSM10 (V88M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3165990	NM_144990.4(SLFNL1):c.263G>A (p.Arg88Gln)	SLFNL1, SLFNL1-AS1 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255004	NM_020883.2(ZSWIM5):c.263G>A (p.Arg88Gln)	ZSWIM5 (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 142138	NM_001048174.2(MUTYH):c.1381G>A (p.Ala461Thr)	MUTYH (A489T +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +3 more	GUncertain significance
Select item 479993	NM_001048174.2(MUTYH):c.1366G>A (p.Ala456Thr)	MUTYH (A484T +7 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 140877	NM_001048174.2(MUTYH):c.650G>A (p.Arg217His)	MUTYH (R245H +8 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 2 +7 more	GPathogenic/Likely pathogenic
Select item 216520	NM_001128425.2(MUTYH):c.37G>A (p.Ala13Thr)	MUTYH (A13T)	Single nucleotide variant (5 prime UTR variant +2 more)	not provided +2 more	GUncertain significance
Select item 2350465	NM_001290403.2(TAL1):c.262G>A (p.Val88Met)	TAL1 (V88M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2395304	NM_001031672.4(CYB5RL):c.88G>A (p.Gly30Ser)	CYB5RL (G30S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 201925	NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe)	NEXN (L479F +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 948247	NM_003921.5(BCL10):c.263G>A (p.Arg88Gln)	BCL10 (R88Q)	Single nucleotide variant (missense variant)	Immunodeficiency 37	GUncertain significance
Select item 2345960	NM_001514.6(GTF2B):c.88G>A (p.Gly30Ser)	GTF2B (G30S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511069	NM_173567.5(EPHX4):c.88C>T (p.Leu30Phe)	EPHX4 (L30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271768	NM_005263.5(GFI1):c.262G>A (p.Asp88Asn)	GFI1 (D88N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324810	NM_005263.5(GFI1):c.88G>A (p.Glu30Lys)	GFI1 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 99448	NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)	ABCA4 (R2107H +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 99351	NM_000350.3(ABCA4):c.5196+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	Age related macular degeneration 2 +3 more	GPathogenic
Select item 961758	NM_000350.3(ABCA4):c.2382+1G>A	ABCA4	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 99087	NM_000350.3(ABCA4):c.1819G>A (p.Gly607Arg)	ABCA4 (G607R)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 3129173	NM_002858.4(ABCD3):c.262C>T (p.Leu88Phe)	ABCD3 (L88F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3091455	NM_001993.5(F3):c.88G>A (p.Ala30Thr)	F3 (A30T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2034246	NM_144988.4(ALG14):c.263G>A (p.Arg88Gln)	ALG14-AS1, ALG14 (R88Q)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 15	GUncertain significance
Select item 555616	NM_000110.4(DPYD):c.704G>A (p.Arg235Gln)	DPYD (R235Q)	Single nucleotide variant (missense variant)	Dihydropyrimidine dehydrogenase deficiency	GConflicting classifications of pathogenicity
Select item 3097034	NM_001361041.2(FRRS1):c.263G>A (p.Gly88Asp)	FRRS1 (G88D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 370032	NM_013386.5(SLC25A24):c.650G>A (p.Arg217His)	SLC25A24 (R198H +1 more)	Single nucleotide variant (missense variant)	Fontaine progeroid syndrome +1 more	GPathogenic
Select item 3172932	NM_001040709.2(SYPL2):c.262C>T (p.Arg88Trp)	SYPL2 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 12687	NM_000549.5(TSHB):c.205C>T (p.Gln69Ter)	TSHB (Q24* +1 more)	Single nucleotide variant (nonsense)	TSHB-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 3140265	NM_001256106.3(CD101):c.262C>T (p.Arg88Trp)	CD101 (R88W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522787	NM_001461.4(FMO5):c.262G>A (p.Val88Ile)	CHD1L, FMO5 (V88I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 8721	NM_005267.5(GJA8):c.262C>T (p.Pro88Ser)	GJA8 (P88S)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GPathogenic/Likely pathogenic
Select item 1684590	NM_005267.5(GJA8):c.263C>T (p.Pro88Leu)	GJA8 (P88L)	Single nucleotide variant (missense variant)	Cataract 1 multiple types	GConflicting classifications of pathogenicity
Select item 2588499	NM_018178.6(GOLPH3L):c.263G>A (p.Arg88Gln)	GOLPH3L (R88Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1341599	NM_002016.2(FLG):c.6919G>A (p.Ala2307Thr)	CCDST, FLG (A2307T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3203134	NM_207308.3(NUP210L):c.88G>A (p.Val30Ile)	NUP210L (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1800198	NM_000157.4(GBA1):c.845G>A (p.Gly282Glu)	GBA1, LOC106627981 (G195E +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely pathogenic
Select item 2617565	NM_001005189.2(OR6Y1):c.262G>A (p.Val88Ile)	OR6Y1 (V88I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 651705	NM_002241.5(KCNJ10):c.264G>A (p.Leu88=)	KCNJ10	Single nucleotide variant (synonymous variant)	EAST syndrome	GUncertain significance
Select item 3113350	NM_004983.3(KCNJ9):c.88C>T (p.Arg30Trp)	KCNJ9 (R30W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 596561	NM_002857.4(PEX19):c.262G>A (p.Glu88Lys)	PEX19 (E88K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1056613	NM_002857.4(PEX19):c.88G>A (p.Asp30Asn)	PEX19 (D30N)	Single nucleotide variant (missense variant +1 more)	Peroxisome biogenesis disorder 12A (Zellweger) +1 more	GUncertain significance
Select item 496142	NM_001643.2(APOA2):c.288G>A (p.Gln96=)	APOA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 41776	NM_003001.5(SDHC):c.43C>T (p.Arg15Ter)	SDHC (R15*)	Single nucleotide variant (nonsense +3 more)	Hereditary cancer-predisposing syndrome +4 more	GPathogenic
Select item 407056	NM_003001.5(SDHC):c.263C>T (p.Ser88Leu)	SDHC (S88L +7 more)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 3203694	NM_003953.6(MPZL1):c.88C>T (p.Leu30Phe)	MPZL1 (L30F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1978443	NM_006996.3(SLC19A2):c.262G>A (p.Val88Met)	SLC19A2 (V88M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2429763	NM_000261.2(MYOC):c.1452G>A (p.Lys484=)	MYOC	Single nucleotide variant (synonymous variant)	Glaucoma of childhood	GUncertain significance FDA Recognized database
Select item 2334228	NM_003326.5(TNFSF4):c.262G>A (p.Val88Met)	TNFSF4 (V38M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 5370	NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)	NPHS2 (R229Q)	Single nucleotide variant (missense variant +1 more)	Proteinuria +6 more	GConflicting classifications of pathogenicity
Select item 970366	NM_201253.3(CRB1):c.263C>T (p.Thr88Ile)	CRB1 (T88I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2166437	NM_001031725.6(DDX59):c.88G>A (p.Glu30Lys)	DDX59 (E30K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 43642	NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)	TNNT2 (R139H +3 more)	Single nucleotide variant (missense variant)	Primary dilated cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 1981849	NM_000537.4(REN):c.262G>A (p.Gly88Ser)	REN (G88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2258570	NM_001005388.3(NFASC):c.263C>T (p.Pro88Leu)	NFASC (P88L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2910274	NM_172362.3(KCNH1):c.262G>A (p.Glu88Lys)	KCNH1 (E88K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2235992	NM_013349.5(NENF):c.88C>T (p.Arg30Trp)	LOC129932466, NENF (R30W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 495213	NM_003238.6(TGFB2):c.958C>T (p.Arg320Cys)	TGFB2 (R348C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 433010	NM_001379403.1(WDR26):c.1150G>A (p.Asp384Asn)	WDR26 (D284N +2 more)	Single nucleotide variant (missense variant)	Skraban-Deardorff syndrome	GPathogenic
Select item 1330815	NM_002296.4(LBR):c.262G>A (p.Gly88Ser)	LBR (G88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 559322	NM_001010867.4(IBA57):c.599C>T (p.Thr200Ile)	IBA57 (T200I +1 more)	Single nucleotide variant (missense variant)	Multiple mitochondrial dysfunctions syndrome 3 +3 more	GUncertain significance
Select item 3103810	NM_175055.3(H2BC26):c.88C>T (p.Arg30Cys)	H2BC26 (R30C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1053538	NM_003193.5(TBCE):c.262C>T (p.Arg88Cys)	TBCE (R88C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 671848	NM_001103.2(ACTN2):c.-510C>T	ACTN2	Single nucleotide variant	not provided	GBenign
Select item 876165	NM_001103.3(ACTN2):c.-223C>T	ACTN2	Single nucleotide variant	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 296490	NM_001103.4(ACTN2):c.-159C>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	Dilated cardiomyopathy 1AA	GUncertain significance
Select item 136287	NM_001103.4(ACTN2):c.-22C>T	ACTN2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign/Likely benign
Select item 2932818	NM_001103.4(ACTN2):c.16C>T (p.Pro6Ser)	ACTN2 (P6S)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 43919	NM_001103.4(ACTN2):c.18C>T (p.Pro6=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign/Likely benign
Select item 1042730	NM_001103.4(ACTN2):c.21C>T (p.Gly7=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Myopathy, congenital, with structured cores and z-line abnormalities +3 more	GConflicting classifications of pathogenicity
Select item 1658140	NM_001103.4(ACTN2):c.30C>T (p.Tyr10=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 1596511	NM_001103.4(ACTN2):c.36C>T (p.Tyr12=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 463213	NM_001103.4(ACTN2):c.64C>T (p.Gln22Ter)	ACTN2 (Q22*)	Single nucleotide variant (nonsense +1 more)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 180257	NM_001103.4(ACTN2):c.82C>T (p.Arg28Cys)	ACTN2 (R28C)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1AA +1 more	GUncertain significance
Select item 43953	NM_001103.4(ACTN2):c.93C>T (p.Leu31=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GLikely benign
Select item 964189	NM_001103.4(ACTN2):c.126+3C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GUncertain significance
Select item 1217284	NM_001103.4(ACTN2):c.126+13C>T	ACTN2	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 201625	NM_001103.4(ACTN2):c.126+14C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +2 more	GBenign
Select item 1546496	NM_001103.4(ACTN2):c.126+16C>T	ACTN2	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1AA +1 more	GLikely benign
Select item 389659	NM_001103.4(ACTN2):c.153C>T (p.His51=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Primary familial hypertrophic cardiomyopathy +2 more	GLikely benign
Select item 626617	NM_001103.4(ACTN2):c.154C>T (p.Leu52=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	Cardiomyopathy +3 more	GConflicting classifications of pathogenicity
Select item 35648	NM_001103.4(ACTN2):c.165C>T (p.Ala55=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not specified +4 more	GBenign/Likely benign
Select item 43918	NM_001103.4(ACTN2):c.186C>T (p.Ile62=)	ACTN2	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GLikely benign
Select item 2924407	NM_001103.4(ACTN2):c.241+16C>T	ACTN2	Single nucleotide variant (intron variant)	Primary familial hypertrophic cardiomyopathy +1 more	GLikely benign

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