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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1452181	NM_080605.4(B3GALT6):c.2T>C (p.Met1Thr)	B3GALT6 (M1T)	Single nucleotide variant (missense variant +1 more)	Spondyloepimetaphyseal dysplasia with joint laxity +1 more	GPathogenic
Select item 2357352	NM_023018.5(NADK):c.263+2165G>A	NADK (V127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173124	NM_023018.5(NADK):c.263+2126G>A	NADK (G114R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2638062	NM_023018.5(NADK):c.263+2107G>A	NADK	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1798675	NM_007272.3(CTRC):c.2T>C (p.Met1Thr)	CTRC (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary pancreatitis	GLikely pathogenic
Select item 981885	NM_032264.6(NBPF3):c.2T>C (p.Met1Thr)	NBPF3 (M1T)	Single nucleotide variant (missense variant +3 more)	Hereditary breast ovarian cancer syndrome	GUncertain significance
Select item 1645928	NM_000478.6(ALPL):c.117T>C (p.Tyr39=)	ALPL (M1T)	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2780529	NM_000478.6(ALPL):c.167T>C (p.Met56Thr)	ALPL (M56T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 666838	NM_198173.3(GRHL3):c.140T>C (p.Met47Thr)	GRHL3 (M47T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 530813	NM_020451.3(SELENON):c.2T>C (p.Met1Thr)	SELENON (M1T)	Single nucleotide variant (missense variant +1 more)	Eichsfeld type congenital muscular dystrophy	GPathogenic
Select item 1199835	NM_006015.6(ARID1A):c.2T>C (p.Met1Thr)	ARID1A (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 16715	NM_001376013.1(EPB41):c.629T>C (p.Met210Thr)	EPB41 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GPathogenic
Select item 16714	NM_001376013.1(EPB41):c.629T>G (p.Met210Arg)	EPB41 (M1R +1 more)	Single nucleotide variant (missense variant +1 more)	Elliptocytosis 1	GPathogenic
Select item 206651	NM_000310.4(PPT1):c.2T>C (p.Met1Thr)	PPT1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2339049	NM_006845.4(KIF2C):c.341T>C (p.Met114Thr)	KIF2C (M114T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 567351	NM_001048174.2(MUTYH):c.2T>G (p.Met1Arg)	MUTYH (M15R +1 more)	Single nucleotide variant (missense variant +3 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 406849	NM_001048174.2(MUTYH):c.2T>C (p.Met1Thr)	MUTYH (M15T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 230848	NM_001128425.2(MUTYH):c.2T>C (p.Met1Thr)	MUTYH, TOE1 (M1T +1 more)	Single nucleotide variant (missense variant +3 more)	not provided +3 more	GUncertain significance
Select item 859836	NM_001128425.2(MUTYH):c.1A>G (p.Met1Val)	MUTYH, TOE1 (M1V +1 more)	Single nucleotide variant (missense variant +3 more)	Familial adenomatous polyposis 2 +1 more	GUncertain significance
Select item 557424	NM_015506.3(MMACHC):c.2T>G (p.Met1Arg)	MMACHC (M1R)	Single nucleotide variant (5 prime UTR variant +2 more)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 556190	NM_015506.3(MMACHC):c.2T>C (p.Met1Thr)	MMACHC (M1T)	Single nucleotide variant (5 prime UTR variant +2 more)	Cobalamin C disease	GPathogenic/Likely pathogenic
Select item 1810484	NM_015506.3(MMACHC):c.173T>C (p.Met58Thr)	MMACHC (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3223451	NM_003579.4(RAD54L):c.542T>C (p.Met181Thr)	RAD54L (M181T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2068347	NM_002979.5(SCP2):c.2T>C (p.Met1Thr)	SCP2 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 919992	NM_174936.4(PCSK9):c.2T>G (p.Met1Arg)	PCSK9 (M1R)	Single nucleotide variant (missense variant +1 more)	Familial hypercholesterolemia	GUncertain significance
Select item 16186	NM_002353.3(TACSTD2):c.2T>G (p.Met1Arg)	TACSTD2 (M1R)	Single nucleotide variant (missense variant +1 more)	Gelatinous droplike corneal dystrophy	GPathogenic
Select item 546320	NM_001134673.4(NFIA):c.2T>C (p.Met1Thr)	NFIA (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	NFIA-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 558047	NM_013339.4(ALG6):c.2T>C (p.Met1Thr)	ALG6 (M1T)	Single nucleotide variant (missense variant +1 more)	ALG6-congenital disorder of glycosylation 1C	GLikely pathogenic
Select item 2394767	NM_001130058.2(SLC44A5):c.128T>C (p.Met43Thr)	SLC44A5 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 280328	NM_000350.3(ABCA4):c.3G>T (p.Met1Ile)	ABCA4 (M1I)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 556579	NM_000642.3(AGL):c.82+1547T>C	AGL (M1T)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease type III	GLikely benign
Select item 3140767	NM_003672.4(CDC14A):c.881T>C (p.Met294Thr)	CDC14A (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1135001	NM_001368809.2(AMPD2):c.-67T>C	AMPD2 (M1T)	Single nucleotide variant (missense variant +3 more)	Hereditary spastic paraplegia 63 +1 more	GLikely benign
Select item 1798622	NM_001253852.3(AP4B1):c.299T>C (p.Met100Thr)	AP4B1 (M1T +1 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3031621	NM_000549.5(TSHB):c.163-26T>C	TSHB (M1T)	Single nucleotide variant (missense variant +2 more)	TSHB-related disorder	GUncertain significance
Select item 452250	NM_001232.4(CASQ2):c.2T>C (p.Met1Thr)	CASQ2 (M1T)	Single nucleotide variant (missense variant +1 more)	Catecholaminergic polymorphic ventricular tachycardia 1 +1 more	GPathogenic/Likely pathogenic
Select item 1331415	NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)	PHGDH (M1T)	Single nucleotide variant (missense variant +1 more)	Neu-Laxova syndrome 1 +1 more	GPathogenic/Likely pathogenic
Select item 2682551	NM_032305.3(POLR3GL):c.2T>C (p.Met1Thr)	POLR3GL (M1T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2971683	NM_002796.3(PSMB4):c.2T>C (p.Met1Thr)	PSMB4 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2398754	NM_176823.4(S100A7A):c.155T>C (p.Ile52Thr)	S100A7A, S100A8 (I52T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511126	NM_176823.4(S100A7A):c.175T>C (p.Phe59Leu)	S100A7A, S100A8 (F59L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3157405	NM_176823.4(S100A7A):c.209T>C (p.Ile70Thr)	S100A8, S100A7A (I70T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2597946	NM_176823.4(S100A7A):c.281C>T (p.Ala94Val)	S100A7A, S100A8 (A94V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2590845	NM_001162383.2(ARHGEF2):c.83T>C (p.Met28Thr)	ARHGEF2 (M11T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2488942	NM_170707.4(LMNA):c.2T>A (p.Met1Lys)	LMNA (M1K)	Single nucleotide variant (missense variant +3 more)	not provided +1 more	GPathogenic
Select item 1023702	NM_000702.4(ATP1A2):c.2T>C (p.Met1Thr)	ATP1A2 (M1T)	Single nucleotide variant (missense variant +1 more)	Familial hemiplegic migraine	GUncertain significance
Select item 655883	NM_001122764.3(PPOX):c.2T>C (p.Met1Thr)	PPOX (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GPathogenic
Select item 1052037	NM_001122764.3(PPOX):c.488T>C (p.Met163Thr)	PPOX (M130T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2943040	NM_003001.5(SDHC):c.2T>C (p.Met1Thr)	SDHC (M1T)	Single nucleotide variant (missense variant +3 more)	Paragangliomas 3 +1 more	GPathogenic
Select item 968839	NM_003001.5(SDHC):c.2T>G (p.Met1Arg)	SDHC (M1R)	Single nucleotide variant (missense variant +1 more)	Paragangliomas 3 +1 more	GLikely pathogenic
Select item 971677	NM_003001.5(SDHC):c.113T>C (p.Met38Thr)	SDHC (M38T +2 more)	Single nucleotide variant (missense variant +3 more)	Gastrointestinal stromal tumor +1 more	GUncertain significance
Select item 488888	NM_005562.3(LAMC2):c.2T>C (p.Met1Thr)	LAMC2, LOC126805948 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 521635	NM_024529.5(CDC73):c.2T>C (p.Met1Thr)	CDC73 (M1T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 448640	NM_001146262.4(SYT14):c.-13T>C	SYT14 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GUncertain significance
Select item 521372	NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)	FLVCR1 (M1T)	Single nucleotide variant (missense variant +1 more)	Posterior column ataxia-retinitis pigmentosa syndrome +2 more	GPathogenic/Likely pathogenic
Select item 2109545	NM_012424.6(RPS6KC1):c.1058T>C (p.Met353Thr)	RPS6KC1 (M1T +7 more)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2584783	NM_003676.4(DEGS1):c.2T>C (p.Met1Thr)	DEGS1 (M1T)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GLikely pathogenic
Select item 805856	NM_003676.4(DEGS1):c.110T>C (p.Met37Thr)	DEGS1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Leukodystrophy, hypomyelinating, 18	GUncertain significance
Select item 1339604	NM_022786.3(ARV1):c.2T>C (p.Met1Thr)	ARV1, LOC129932761 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 1712741	NM_001035.3(RYR2):c.2T>C (p.Met1Thr)	RYR2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 822533	NM_000143.4(FH):c.2T>C (p.Met1Thr)	FH (M1T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 429172	NM_000143.4(FH):c.2T>G (p.Met1Arg)	FH (M1R)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1320208	NM_198076.6(COX20):c.2T>C (p.Met1Thr)	COX20 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 3205237	NM_030904.2(OR2T1):c.2T>C (p.Met1Thr)	OR2T1 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 977840	NM_005378.6(MYCN):c.2T>C (p.Met1Thr)	MYCN, MYCNOS (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 860519	NM_144631.6(ZNF513):c.188T>C (p.Met63Thr)	ZNF513 (M63T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 265705	NM_000348.4(SRD5A2):c.2T>C (p.Met1Thr)	SRD5A2 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 2048950	NM_001199138.2(NLRC4):c.2-2A>G	NLRC4	Single nucleotide variant (splice acceptor variant)	Periodic fever-infantile enterocolitis-autoinflammatory syndrome +1 more	GLikely benign
Select item 518437	NM_016008.4(DYNC2LI1):c.2T>C (p.Met1Thr)	DYNC2LI1 (M1T)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1677567	NM_022437.3(ABCG8):c.2T>C (p.Met1Thr)	ABCG5, ABCG8 (M1T)	Single nucleotide variant (missense variant +1 more)	Sitosterolemia 1 +1 more	GLikely pathogenic
Select item 556852	NM_133259.4(LRPPRC):c.2T>A (p.Met1Lys)	LRPPRC (M1K)	Single nucleotide variant (missense variant +1 more)	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	GLikely pathogenic
Select item 1391143	NM_000251.3(MSH2):c.2T>C (p.Met1Thr)	MSH2 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GUncertain significance
Select item 820508	NM_000251.3(MSH2):c.200T>C (p.Met67Thr)	MSH2 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary nonpolyposis colorectal neoplasms +1 more	GConflicting classifications of pathogenicity
Select item 2107348	NM_000179.3(MSH6):c.2T>C (p.Met1Thr)	MSH6 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary nonpolyposis colorectal neoplasms	GLikely pathogenic
Select item 2852158	NM_000179.3(MSH6):c.299T>C (p.Met100Thr)	MSH6 (M132T +4 more)	Single nucleotide variant (missense variant +4 more)	Hereditary nonpolyposis colorectal neoplasms	GUncertain significance
Select item 630179	NM_000179.3(MSH6):c.908T>C (p.Met303Thr)	MSH6 (M303T +2 more)	Single nucleotide variant (missense variant +1 more)	Lynch syndrome +2 more	GUncertain significance
Select item 2499988	NM_003038.5(SLC1A4):c.2T>C (p.Met1Thr)	SLC1A4 (M1T)	Single nucleotide variant (missense variant +2 more)	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	GPathogenic
Select item 3167058	NM_003096.4(SNRPG):c.33A>G (p.Lys11=)	SNRPG	Single nucleotide variant (synonymous variant +2 more)	not specified	GLikely benign
Select item 44228	NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr)	ATP6V1B1 (M1T)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign
Select item 553165	NM_003494.4(DYSF):c.2T>C (p.Met1Thr)	DYSF (M1T)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2B +1 more	GPathogenic/Likely pathogenic
Select item 2734235	NM_080916.3(DGUOK):c.2T>C (p.Met1Thr)	DGUOK, LOC129934096 (M1T)	Single nucleotide variant (missense variant +3 more)	not provided	GPathogenic
Select item 215086	NM_001371279.1(REEP1):c.10T>G (p.Trp4Gly)	REEP1 (W4G +1 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 31 +1 more	GUncertain significance
Select item 941193	NM_001371279.1(REEP1):c.2T>C (p.Met1Thr)	REEP1 (M1T)	Single nucleotide variant (5 prime UTR variant +3 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1792939	NM_017849.4(TMEM127):c.254T>G (p.Met85Arg)	TMEM127 (M1R +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2574088	NM_017849.4(TMEM127):c.2T>C (p.Met1Thr)	LOC129934333, TMEM127 (M1T)	Single nucleotide variant (missense variant +2 more)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 857168	NM_017849.4(TMEM127):c.2T>G (p.Met1Arg)	LOC129934333, TMEM127 (M1R)	Single nucleotide variant (missense variant +1 more)	Hereditary pheochromocytoma-paraganglioma +1 more	GPathogenic/Likely pathogenic
Select item 1208630	NM_145199.3(LIPT1):c.2T>C (p.Met1Thr)	LIPT1, MITD1 (M1T)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 2388198	NM_020868.6(DPP10):c.764T>C (p.Met255Thr)	DPP10 (M171T +9 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2404264	NM_001376312.2(GTDC1):c.389T>C (p.Met130Thr)	GTDC1 (M130T +2 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 204928	NM_000726.5(CACNB4):c.656T>C (p.Met219Thr)	CACNB4 (M219T +5 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2351561	NM_016836.4(RBMS1):c.101T>C (p.Met34Thr)	RBMS1 (M34T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 461262	NM_001165963.4(SCN1A):c.2T>C (p.Met1Thr)	SCN1A (M1T)	Single nucleotide variant (missense variant +3 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic
Select item 3039992	NM_152381.6(XIRP2):c.2T>C (p.Met1Thr)	XIRP2 (M1T)	Single nucleotide variant (missense variant +1 more)	XIRP2-related disorder	GLikely benign
Select item 2771257	NM_025000.4(DCAF17):c.2T>C (p.Met1Thr)	DCAF17, METTL8 (M1T)	Single nucleotide variant (missense variant +3 more)	Woodhouse-Sakati syndrome	GPathogenic
Select item 2392933	NM_001207067.2(BZW1):c.-11+431C>T	BZW1 (P5L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493251	NM_001207067.2(BZW1):c.-11+452C>T	BZW1 (A12V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135645	NM_001207067.2(BZW1):c.-11+481C>T	BZW1 (R22W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 402493	NM_001228.5(CASP8):c.-26-8228T>C	CASP8, LOC128772255 (M1T)	Single nucleotide variant (missense variant +4 more)	not specified +1 more	GBenign
Select item 1374355	NM_001372051.1(CASP8):c.311T>C (p.Met104Thr)	CASP8 (M104T +3 more)	Single nucleotide variant (missense variant +3 more)	Autoimmune lymphoproliferative syndrome type 2B	GUncertain significance
Select item 282570	NM_000784.4(CYP27A1):c.2T>C (p.Met1Thr)	CYP27A1 (M1T)	Single nucleotide variant (missense variant +1 more)	Cholestanol storage disease +3 more	GConflicting classifications of pathogenicity

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