J Du Toit - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 12792	NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)	SDHB (S163P)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +7 more	GConflicting classifications of pathogenicity
Select item 36769	NM_003000.3(SDHB):c.423+20T>A	SDHB	Single nucleotide variant (intron variant)	Paragangliomas 4 +5 more	GConflicting classifications of pathogenicity
Select item 12791	NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)	SDHB (A3G)	Single nucleotide variant (missense variant)	Hereditary pheochromocytoma-paraganglioma +9 more	GBenign/Likely benign
Select item 188857	NM_000310.4(PPT1):c.541G>A (p.Val181Met)	PPT1 (V181M +1 more)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 1 +3 more	GPathogenic/Likely pathogenic
Select item 16118	NM_006516.4(SLC2A1):c.376C>T (p.Arg126Cys)	SLC2A1 (R126C)	Single nucleotide variant (missense variant)	Hereditary cryohydrocytosis with reduced stomatin +3 more	GPathogenic/Likely pathogenic
Select item 16117	NM_006516.4(SLC2A1):c.277C>T (p.Arg93Trp)	SLC2A1 (R93W)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 4440	NM_020365.5(EIF2B3):c.1037T>C (p.Ile346Thr)	EIF2B3 (I346T)	Single nucleotide variant (missense variant)	Leukoencephalopathy with vanishing white matter 3	GPathogenic
Select item 617897	NM_174936.4(PCSK9):c.443_444del (p.Ser148fs)	PCSK9 (S148fs)	Microsatellite (frameshift variant)	Hypercholesterolemia, autosomal dominant, 3	GUncertain significance
Select item 203540	NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)	ACADM (D266G +4 more)	Single nucleotide variant (missense variant)	Epileptic spasm +3 more	GPathogenic/Likely pathogenic
Select item 3586	NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)	ACADM (K329E +4 more)	Single nucleotide variant (missense variant)	ACADM-related disorder +7 more	GPathogenic/Likely pathogenic
Select item 827788	NM_001378969.1(KCND3):c.1070C>T (p.Ser357Leu)	KCND3 (S357L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +1 more	GConflicting classifications of pathogenicity
Select item 162814	NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu)	CASQ2 (F189L)	Single nucleotide variant (missense variant)	Cardiomyopathy +8 more	GConflicting classifications of pathogenicity
Select item 44167	NM_001232.4(CASQ2):c.481A>G (p.Ile161Val)	CASQ2 (I161V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 224726	NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)	POGZ (E1145fs +4 more)	Deletion (frameshift variant)	Neurodevelopmental disorder +3 more	GPathogenic/Likely pathogenic
Select item 561681	NM_006912.6(RIT1):c.268A>G (p.Met90Val)	RIT1 (M90V +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 48097	NM_170707.4(LMNA):c.976T>A (p.Ser326Thr)	LMNA (S326T +2 more)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1A +6 more	GConflicting classifications of pathogenicity
Select item 14527	NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys)	LMNA (R644C +6 more)	Single nucleotide variant (missense variant +1 more)	Familial partial lipodystrophy, Dunnigan type +18 more	GConflicting classifications of pathogenicity
Select item 1035800	NM_002241.5(KCNJ10):c.769C>G (p.His257Asp)	KCNJ10 (H257D)	Single nucleotide variant (missense variant)	EAST syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1335935	NM_002241.5(KCNJ10):c.115G>A (p.Val39Met)	KCNJ10 (V39M)	Single nucleotide variant (missense variant)	Seizure +3 more	GConflicting classifications of pathogenicity
Select item 199686	NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	CACNA1S (S177L)	Single nucleotide variant (missense variant)	Long QT syndrome +5 more	GConflicting classifications of pathogenicity
Select item 12411	NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)	TNNT2 (R278C +5 more)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy 1 +9 more	GConflicting classifications of pathogenicity
Select item 43659	NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)	TNNT2 (K210del +5 more)	Microsatellite (inframe_deletion)	Cardiomyopathy +6 more	GPathogenic/Likely pathogenic
Select item 43675	NM_000364.3(TNNT2):c.113C>T (p.Ala38Val)	TNNT2 (A28V +2 more)	Single nucleotide variant	Hypertrophic cardiomyopathy 2 +8 more	GConflicting classifications of pathogenicity
Select item 617902	NM_001035.3(RYR2):c.505C>T (p.Arg169Ter)	RYR2 (R169*)	Single nucleotide variant (nonsense)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 43784	NM_001035.3(RYR2):c.4596+12G>A	RYR2	Single nucleotide variant (intron variant)	Catecholaminergic polymorphic ventricular tachycardia 1 +2 more	GBenign/Likely benign
Select item 666427	Single allele	ROR1, RPE65 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 40672	NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)	SOS1 (G434R +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome 4 +12 more	GPathogenic/Likely pathogenic
Select item 40651	NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)	SOS1 (K170E +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 89267	NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)	MSH6 (R772W +2 more)	Single nucleotide variant (missense variant)	Lynch syndrome	GPathogenic
Select item 30935	NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)	TTC21B, TTC21B-AS1 (P209L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 4 +8 more	GPathogenic/Likely pathogenic
Select item 68523	NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)	SCN1A (R935H +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy +5 more	GPathogenic/Likely pathogenic
Select item 281260	NM_001267550.2(TTN):c.67348+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +6 more	GConflicting classifications of pathogenicity
Select item 666351	NM_001267550.2(TTN):c.56648-1G>A	TTN, TTN-AS1	Single nucleotide variant (splice acceptor variant)	Early-onset myopathy with fatal cardiomyopathy +3 more	GLikely pathogenic
Select item 666352	NM_001267550.2(TTN):c.56347+1G>A	TTN, TTN-AS1	Single nucleotide variant (splice donor variant)	Dilated cardiomyopathy 1G +3 more	GLikely pathogenic
Select item 179050	NM_001267550.2(TTN):c.43481-16dup	TTN	Duplication (intron variant)	Dilated cardiomyopathy 1G +6 more	GBenign/Likely benign
Select item 46841	NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe)	TTN (V10240F +2 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome +10 more	GConflicting classifications of pathogenicity
Select item 166348	NM_001267550.2(TTN):c.1449C>T (p.Ala483=)	TTN	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +5 more	GConflicting classifications of pathogenicity
Select item 977315	NM_000090.4(COL3A1):c.2672G>A (p.Gly891Glu)	COL3A1 (G891E)	Single nucleotide variant (missense variant)	Ehlers-Danlos syndrome, type 4	GPathogenic
Select item 101296	NM_000090.4(COL3A1):c.2959G>A (p.Gly987Ser)	COL3A1	Single nucleotide variant (missense variant)	Familial thoracic aortic aneurysm and aortic dissection +1 more	GPathogenic
Select item 617903	NM_001927.4(DES):c.1063C>T (p.Arg355Ter)	DES (R355*)	Single nucleotide variant (nonsense)	Desmin-related myofibrillar myopathy +3 more	GConflicting classifications of pathogenicity
Select item 17407	NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)	COL4A4 (R1377*)	Single nucleotide variant (nonsense)	Benign familial hematuria +4 more	GPathogenic
Select item 188986	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT (G350D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 242895	NM_000844.4(GRM7):c.461T>C (p.Ile154Thr)	GRM7 (I154T)	Single nucleotide variant (missense variant)	Hypotonia +5 more	GPathogenic/Likely pathogenic
Select item 972736	NM_000844.4(GRM7):c.1757G>A (p.Trp586Ter)	GRM7 (W586*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 242900	NM_000844.4(GRM7):c.1972C>T (p.Arg658Trp)	GRM7 (R658W)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic/Likely pathogenic
Select item 972737	NM_000844.4(GRM7):c.1973G>A (p.Arg658Gln)	GRM7 (R658Q)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities +1 more	GUncertain significance
Select item 972739	NM_000844.4(GRM7):c.1975C>T (p.Arg659Ter)	GRM7 (R659*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 972738	NM_000844.4(GRM7):c.2671G>A (p.Glu891Lys)	GRM7 (E891K)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities	GPathogenic
Select item 8293	NM_033337.3(CAV3):c.233C>T (p.Thr78Met)	CAV3, OXTR (T78M)	Single nucleotide variant (missense variant)	CAV3-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 788	NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)	GPD1L (I124V)	Single nucleotide variant (missense variant)	GPD1L-related disorder +7 more	GConflicting classifications of pathogenicity
Select item 67835	NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)	SCN5A (T1303M +2 more)	Single nucleotide variant (missense variant)	Brugada syndrome 1 +7 more	GUncertain significance
Select item 9399	NM_000335.5(SCN5A):c.3781G>A (p.Gly1261Ser)	SCN5A (G1262S +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +8 more	GConflicting classifications of pathogenicity
Select item 9392	NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln)	SCN5A (R1193Q +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +13 more	GBenign/Likely benign
Select item 9393	NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr)	LOC110121269, SCN5A (S1103Y +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome 3 +15 more	GConflicting classifications of pathogenicity
Select item 9400	NM_000335.5(SCN5A):c.3157G>A (p.Glu1053Lys)	LOC110121269, SCN5A (E1053K)	Single nucleotide variant (missense variant)	Long QT syndrome 3 +5 more	GConflicting classifications of pathogenicity
Select item 67672	NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)	SCN5A (R535Q)	Single nucleotide variant (missense variant)	not specified +5 more	GUncertain significance
Select item 43121	NM_000258.3(MYL3):c.170C>A (p.Ala57Asp)	MYL3 (A57D)	Single nucleotide variant (missense variant)	Hypertrophic cardiomyopathy +5 more	GConflicting classifications of pathogenicity
Select item 376470	NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys)	PIK3CA (E453K)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 13653	NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)	PIK3CA (H1047L)	Single nucleotide variant (missense variant)	Hemihypertrophy +6 more	GPathogenic
Select item 13652	NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg)	PIK3CA (H1047R)	Single nucleotide variant (missense variant)	Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes	GPathogenic FDA Recognized database
Select item 266034	NM_004113.6(FGF12):c.155G>A (p.Arg52His)	FGF12 (R114H +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 47 +2 more	GPathogenic
Select item 16332	NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)	FGFR3 (R248C)	Single nucleotide variant (missense variant +1 more)	FGFR3-related disorder +31 more	GPathogenic
Select item 16327	NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)	FGFR3 (G380R +1 more)	Single nucleotide variant (missense variant +2 more)	Camptodactyly-tall stature-scoliosis-hearing loss syndrome +18 more	GPathogenic
Select item 549845	NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)	EXOSC9 (L14P)	Single nucleotide variant (missense variant)	Cerebral atrophy +2 more	GPathogenic/Likely pathogenic
Select item 2579279	GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1	LOC129993645, LOC129993646 +419 more	Copy number loss	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	GPathogenic
Select item 149556	GRCh38/hg38 5p15.33-14.3(chr5:22149-21217120)x1	LOC126807323, LOC126807324 +530 more	Copy number loss	See cases	GPathogenic
Select item 146365	GRCh38/hg38 5p15.33-13.3(chr5:22149-32248010)x1	ADAMTS16, ADAMTS16-DT +606 more	Copy number loss	See cases	GPathogenic
Select item 39108	NM_198253.3(TERT):c.2110C>T (p.Pro704Ser)	TERT (P704S)	Single nucleotide variant (missense variant +1 more)	Dyskeratosis congenita +3 more	GPathogenic/Likely pathogenic
Select item 12730	NM_198253.3(TERT):c.1234C>T (p.His412Tyr)	TERT (H412Y)	Single nucleotide variant (missense variant +1 more)	not specified +8 more	GConflicting classifications of pathogenicity
Select item 822	NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)	APC (I1307K +12 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +7 more	GConflicting classifications of pathogenicity; association; risk factor
Select item 17994	NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)	ALDH7A1 (E399Q +2 more)	Single nucleotide variant (missense variant)	Pyridoxine-dependent epilepsy caused by ALDH7A1 mutant +3 more	GPathogenic/Likely pathogenic
Select item 4089	NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	SLC26A2 (R279W)	Single nucleotide variant (missense variant)	Sulfate transporter-related osteochondrodysplasia +10 more	GPathogenic/Likely pathogenic
Select item 2685147	GRCh37/hg19 5p15.31-15.1(chr5:9002950-15174932)x1	ANKH, ANKRD33B +15 more	Copy number loss	not provided	GPathogenic
Select item 1809200	GRCh37/hg19 5p15.33-14.1(chr5:113577-26164852)x1	ADAMTS16, ADCY2 +66 more	Copy number loss	not provided	GPathogenic
Select item 1340533	GRCh37/hg19 5p15.33-15.1(chr5:113577-16952167)x1	ADAMTS16, ADCY2 +60 more	Copy number loss	not provided	GPathogenic
Select item 563025	GRCh37/hg19 5p15.33-15.1(chr5:113576-15822225)x1	ADAMTS16, ADCY2 +56 more	Copy number loss	not provided	GPathogenic
Select item 16846	NM_004415.4(DSP):c.88G>A (p.Val30Met)	DSP, DSP-AS1 (V30M)	Single nucleotide variant (missense variant)	Arrhythmogenic right ventricular cardiomyopathy +9 more	GConflicting classifications of pathogenicity
Select item 44863	NM_004415.4(DSP):c.1574+14G>T	DSP	Single nucleotide variant (intron variant)	Woolly hair-skin fragility syndrome +5 more	GConflicting classifications of pathogenicity
Select item 977635	NM_004415.4(DSP):c.1783C>T (p.Gln595Ter)	DSP (Q595*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 9	NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	HFE (C282Y +8 more)	Single nucleotide variant (missense variant +1 more)	Abnormal peripheral nervous system morphology +19 more	GPathogenic/Pathogenic, low penetrance; other; risk factor
Select item 438586	NM_178014.4(TUBB):c.860C>T (p.Pro287Leu)	TUBB (P287L +3 more)	Single nucleotide variant (missense variant +1 more)	Complex cortical dysplasia with other brain malformations 6 +3 more	GConflicting classifications of pathogenicity
Select item 127189	NM_178014.4(TUBB):c.895A>G (p.Met299Val)	TUBB (M299V +3 more)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GPathogenic
Select item 279703	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	BRAT1 (L99fs)	Duplication (frameshift variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures +3 more	GPathogenic/Likely pathogenic
Select item 9245	NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	PMS2 (S46I)	Single nucleotide variant (missense variant +3 more)	Lynch syndrome	GLikely pathogenic
Select item 279809	NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	FKBP14, FKBP14-AS1 (E122fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +2 more	GPathogenic/Likely pathogenic
Select item 7126	NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	CFTR, CFTR-AS1 (F508C)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 7115	NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)	CFTR, LOC111674475 (G542*)	Single nucleotide variant (nonsense)	Cystic fibrosis	GPathogenic
Select item 38497	NM_000492.4(CFTR):c.2657+5G>A	CFTR	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 35864	NM_000492.4(CFTR):c.3140-26A>G	CFTR, LOC111674472	Single nucleotide variant (intron variant)	Cystic fibrosis	GPathogenic
Select item 7136	NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	CFTR (N1303K)	Single nucleotide variant (missense variant)	Cystic fibrosis	GPathogenic
Select item 13973	NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)	BRAF (Q257R +4 more)	Single nucleotide variant (missense variant)	Cardio-facio-cutaneous syndrome	GPathogenic FDA Recognized database
Select item 200693	NM_000238.4(KCNH2):c.2959_2960del (p.Leu987fs)	KCNH2 (L987fs +1 more)	Deletion (frameshift variant)	Long QT syndrome +5 more	GPathogenic
Select item 195321	NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)	CHD7 (R157*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +3 more	GPathogenic
Select item 56683	NM_152564.5(VPS13B):c.6657+1G>A	VPS13B	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 9293	NM_000459.5(TEK):c.2545C>T (p.Arg849Trp)	TEK (R849W +4 more)	Single nucleotide variant (missense variant)	Multiple cutaneous and mucosal venous malformations +2 more	GPathogenic
Select item 161233	NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)	ENG (G214S +1 more)	Single nucleotide variant (missense variant)	ENG-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3241959	NM_016390.4(SPOUT1):c.766G>C (p.Ala256Pro)	KYAT1-SPOUT1, SPOUT1 (A256P +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1 Associated Development delay Microcephaly Seizures Short stature	GLikely pathogenic
Select item 3241960	NM_016390.4(SPOUT1):c.590G>A (p.Arg197Gln)	KYAT1-SPOUT1, SPOUT1 (R197Q +1 more)	Single nucleotide variant (missense variant +1 more)	SPOUT1 Associated Development delay Microcephaly Seizures Short stature	GLikely pathogenic
Select item 503495	NM_000755.5(CRAT):c.962G>A (p.Arg321His)	CRAT (R321H +3 more)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation +2 more	GConflicting classifications of pathogenicity
Select item 5103	NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)	TSC1 (H732Y +3 more)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity

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