ClinVar for MedGen (Select 849) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068677	NM_001395333.1(MTCL1):c.828G>A (p.Ala276=)	MTCL1, GACAT2	Single nucleotide variant (synonymous variant)	Cerebellar ataxia	GBenign
Select item 2674598	NM_015289.5(VPS39):c.442-2A>G	VPS39	Single nucleotide variant (splice acceptor variant)	Cerebellar ataxia	GUncertain significance
Select item 2664503	NM_005898.5(CAPRIN1):c.1535C>T (p.Pro512Leu)	CAPRIN1 (P512L)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 2570671	NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)	TPTEP2-CSNK1E, CSNK1E (R178C)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +11 more	GUncertain significance
Select item 2570666	NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)	PDE1B (Q66* +2 more)	Single nucleotide variant (nonsense +2 more)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2570665	NM_000924.4(PDE1B):c.735+5G>A	PDE1B	Single nucleotide variant (intron variant)	Intellectual disability, moderate +3 more	GUncertain significance
Select item 2446708	NM_001278064.2(GRM1):c.2471C>G (p.Thr824Arg)	GRM1 (T824R)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GPathogenic
Select item 2431351	NM_001395333.1(MTCL1):c.1129C>T (p.Gln377Ter)	MTCL1 (Q17* +1 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia	GPathogenic
Select item 2430245	NM_002235.5(KCNA6):c.1367T>A (p.Val456Asp)	KCNA6 (V456D)	Single nucleotide variant (missense variant +1 more)	Focal-onset seizure +10 more	GLikely pathogenic
Select item 1710296	NM_175929.3(FGF14):c.208+239747CTT[349]	FGF14	Microsatellite (intron variant)	Cerebellar ataxia	GPathogenic
Select item 1705026	NM_006289.4(TLN1):c.2176dup (p.Thr726fs)	TLN1 (T726fs)	Duplication (frameshift variant)	Attention deficit hyperactivity disorder +2 more	GUncertain significance
Select item 1684497	NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)	ZNF236 (K232E +1 more)	Single nucleotide variant (missense variant)	Delayed speech and language development +3 more	GUncertain significance
Select item 1683717	NM_001278116.2(L1CAM):c.898C>G (p.Leu300Val)	L1CAM (L295V +1 more)	Single nucleotide variant (missense variant)	Peripheral neuropathy +1 more	GUncertain significance
Select item 1342852	NM_020871.4(LRCH2):c.772A>G (p.Lys258Glu)	LRCH2 (K258E)	Single nucleotide variant (missense variant)	Demyelinating peripheral neuropathy +1 more	GPathogenic
Select item 1338863	NM_001458.5(FLNC):c.5385dup (p.Gly1796fs)	FLNC, FLNC-AS1 (G1763fs +1 more)	Duplication (frameshift variant)	Spastic ataxia +1 more	GPathogenic
Select item 1330275	NM_016263.4(FZR1):c.1126G>A (p.Gly376Ser)	FZR1 (G287S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 109 +5 more	GConflicting classifications of pathogenicity
Select item 1321152	NM_153816.6(SNX14):c.867+1G>T	SNX14	Single nucleotide variant (splice donor variant)	Cerebellar ataxia +1 more	GLikely pathogenic
Select item 1298387	NM_015160.3(PMPCA):c.1093C>T (p.Leu365Phe)	PMPCA (L234F +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GUncertain significance
Select item 1184998	NM_002739.5(PRKCG):c.450C>G (p.Cys150Trp)	PRKCG (C150W)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GLikely pathogenic
Select item 1183976	NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)	COQ8A (Q284*)	Single nucleotide variant (nonsense)	Cerebellar ataxia	GLikely pathogenic
Select item 1172597	NM_001172509.2(SATB2):c.1924C>T (p.Gln642Ter)	LOC126806462, SATB2 (Q642*)	Single nucleotide variant (nonsense)	Cerebellar ataxia	GPathogenic
Select item 1048633	NM_001127222.2(CACNA1A):c.4508A>G (p.Asn1503Ser)	CACNA1A (N1503S +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GUncertain significance
Select item 996014	NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)	UNC13A (P814L +1 more)	Single nucleotide variant (missense variant)	Febrile seizure (within the age range of 3 months to 6 years) +5 more	GLikely pathogenic
Select item 984915	NM_014284.3(NCDN):c.1955C>T (p.Pro652Leu)	NCDN (P635L +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 984913	NM_014284.3(NCDN):c.1433G>A (p.Arg478Gln)	NCDN (R461Q +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +2 more	GLikely pathogenic
Select item 974794	GRCh37/hg19 8p23.3-23.1(chr8:176814-11472913)x1	DEFB106B, XKR5 +57 more	Copy number loss	Intellectual disability +1 more	GPathogenic
Select item 974793	GRCh37/hg19 16q23.1(chr16:77896747-79037091)x1	WWOX, CLEC3A +1 more	Copy number loss	Intellectual disability +1 more	GLikely benign
Select item 973832	NM_020944.3(GBA2):c.1444A>C (p.Asn482His)	GBA2 (N482H)	Single nucleotide variant (missense variant)	Cerebellar ataxia +4 more	GUncertain significance
Select item 973107	NM_006796.3(AFG3L2):c.[1385C>T;1858C>A]	AFG3L2 (A462V +1 more)	Single nucleotide variant (missense variant)	Spasticity +4 more	GPathogenic
Select item 933149	NM_021614.4(KCNN2):c.1931T>C (p.Leu644Pro)	LOC101927078, KCNN2 (L644P +2 more)	Single nucleotide variant (missense variant +1 more)	Dyskinesia +3 more	GPathogenic
Select item 933145	NM_021614.4(KCNN2):c.1718A>G (p.Tyr573Cys)	LOC101927078, KCNN2 (Y13C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability +4 more	GLikely pathogenic
Select item 933141	NM_021614.4(KCNN2):c.1436_1439del (p.Leu478_Tyr479insTer)	KCNN2	Deletion (nonsense)	Intellectual disability, mild +2 more	GPathogenic
Select item 915836	NM_016035.5(COQ4):c.[577C>T;718C>T]	COQ4 (R240C +1 more)	Single nucleotide variant (3 prime UTR variant +2 more)	Postural instability +5 more	GPathogenic
Select item 869197	NM_000287.4(PEX6):c.371T>C (p.Leu124Pro)	PEX6 (L124P)	Single nucleotide variant (missense variant +1 more)	Cognitive impairment +5 more	GPathogenic
Select item 812999	NM_000303.3(PMM2):c.584A>G (p.His195Arg)	PMM2 (H195R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 812756	NM_014704.4(CEP104):c.89del (p.Thr30fs)	CEP104 (T30fs)	Deletion (frameshift variant)	Dystonic disorder +2 more	GPathogenic
Select item 812705	NM_016614.3(TDP2):c.636+3_636+6del	TDP2	Deletion (splice donor variant)	Cerebellar ataxia	GPathogenic
Select item 812159	NM_018896.5(CACNA1G):c.3601G>A (p.Gly1201Ser)	CACNA1G (G1178S +1 more)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia	GUncertain significance
Select item 812154	NM_000166.6(GJB1):c.386G>A (p.Gly129Glu)	GJB1 (G129E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth Neuropathy X +3 more	GConflicting classifications of pathogenicity
Select item 812153	NM_018896.5(CACNA1G):c.1288G>A (p.Gly430Ser)	CACNA1G (G430S)	Single nucleotide variant (missense variant +1 more)	Cerebellar ataxia	GUncertain significance
Select item 805947	NC_012920.1(MT-TE):m.14724G>A	MT-TE	Single nucleotide variant	Mitochondrial disease +4 more	GPathogenic
Select item 804288	NM_002109.6(HARS1):c.1393A>C (p.Ile465Leu)	HARS1 (I351L +6 more)	Single nucleotide variant (missense variant)	Usher syndrome type 3B +14 more	GConflicting classifications of pathogenicity
Select item 804287	NM_002109.6(HARS1):c.910_912dup (p.Leu305dup)	HARS1	Duplication (inframe_insertion)	Cerebellar ataxia +11 more	GPathogenic
Select item 721279	NM_033225.6(CSMD1):c.8935G>A (p.Gly2979Ser)	CSMD1, LOC105377785 (G2979S)	Single nucleotide variant (missense variant)	CSMD1-related condition +1 more	GBenign/Likely benign
Select item 693064	NC_012920.1(MT-ATP6):m.9049G>A	MT-ATP6	Single nucleotide variant	Progressive spastic paraparesis +4 more	GLikely pathogenic
Select item 693061	NC_012920.1(MT-ATP6):m.9032T>C	MT-ATP6	Single nucleotide variant	Mitochondrial disease	GUncertain significance FDA Recognized database
Select item 691268	NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG	STXBP1	Indel (intron variant)	Cerebellar ataxia +1 more	GLikely pathogenic
Select item 691261	NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys)	SCN8A (W937C)	Single nucleotide variant (missense variant)	Cerebellar ataxia +1 more	GLikely pathogenic
Select item 689551	NM_001378452.1(ITPR1):c.4127A>T (p.Asp1376Val)	ITPR1 (D1352V +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia	GUncertain significance
Select item 689374	NM_000051.4(ATM):c.3244_3245insG (p.His1082fs)	ATM (H1082fs)	Insertion (frameshift variant)	Ataxia-telangiectasia syndrome +1 more	GPathogenic
Select item 625205	NM_006612.6(KIF1C):c.1051_1055del (p.Asn351fs)	KIF1C (N351fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 619128	NM_016580.4(PCDH12):c.2008G>T (p.Glu670Ter)	PCDH12, RNF14 (E670*)	Single nucleotide variant (nonsense)	Abnormal facial shape +3 more	GLikely pathogenic
Select item 560724	NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del	CACNA1A	Deletion (nonsense +1 more)	Developmental and epileptic encephalopathy, 42 +3 more	GPathogenic/Likely pathogenic
Select item 560384	NM_001278064.2(GRM1):c.951-6T>A	GRM1	Single nucleotide variant (intron variant)	Cerebellar ataxia	GUncertain significance
Select item 560227	NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	ATP6V0A1 (R741Q +22 more)	Single nucleotide variant (missense variant)	Autism +12 more	GConflicting classifications of pathogenicity
Select item 553552	NM_000287.4(PEX6):c.2356C>T (p.Arg786Trp)	PEX6 (R786W +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 523492	NM_006392.4(NOP56):c.452G>C (p.Ser151Thr)	NOP56 (S151T)	Single nucleotide variant (missense variant +1 more)	Mild global developmental delay +1 more	GUncertain significance
Select item 523471	NM_004366.6(CLCN2):c.740G>T (p.Gly247Val)	CLCN2 (G247V +1 more)	Single nucleotide variant (missense variant)	Bipolar affective disorder +3 more	GUncertain significance
Select item 523439	NM_001376.5(DYNC1H1):c.13298A>C (p.Asp4433Ala)	DYNC1H1 (D4433A)	Single nucleotide variant (missense variant)	Impaired vibration sensation in the lower limbs +6 more	GUncertain significance
Select item 523307	NC_012920.1:m.9355A>T	MT-CO3	Single nucleotide variant	Difficulty walking +12 more	GUncertain significance
Select item 523242	GRCh37/hg19 22q11.23(chr22:23720171-25065576)	ADORA2A, C22orf15 +25 more	Copy number gain	Cerebellar ataxia	GUncertain significance
Select item 453645	NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)	ATM, C11orf65 (E2290*)	Duplication (frameshift variant +2 more)	Ataxia-telangiectasia syndrome +5 more	GPathogenic
Select item 448333	NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs)	SETX (E1770fs)	Microsatellite (frameshift variant)	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 +5 more	GPathogenic/Likely pathogenic
Select item 424801	NM_033071.3(SYNE1):c.[4482+1G>T];[9646A>T]			Autosomal recessive ataxia, Beauce type	GLikely pathogenic
Select item 397544	NM_001127222.2(CACNA1A):c.2393A>T (p.Asp798Val)	CACNA1A (D799V +2 more)	Single nucleotide variant (missense variant)	Amyotrophic lateral sclerosis +2 more	GUncertain significance
Select item 375366	NM_001127222.2(CACNA1A):c.5015G>C (p.Arg1672Pro)	CACNA1A (R1672P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 374194	NM_000051.4(ATM):c.689del (p.Asn230fs)	ATM (N230fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +6 more	GPathogenic/Likely pathogenic
Select item 374157	NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)	PNPLA6 (P261A +2 more)	Single nucleotide variant (missense variant)	Dysarthria +2 more	GLikely pathogenic
Select item 374124	NM_198525.3(KIF7):c.434A>C (p.Tyr145Ser)	KIF7 (Y145S)	Single nucleotide variant (missense variant)	Male infertility due to gonadal dysgenesis or sperm disorder +8 more	GConflicting classifications of pathogenicity
Select item 374055	NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)	PNPLA6 (R1311W +3 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 39 +8 more	GConflicting classifications of pathogenicity
Select item 374049	NM_000271.5(NPC1):c.1421C>T (p.Pro474Leu)	NPC1 (P474L)	Single nucleotide variant (missense variant)	Niemann-Pick disease, type C1 +6 more	GPathogenic
Select item 373993	NM_006516.4(SLC2A1):c.470dup (p.Thr158fs)	SLC2A1 (T158fs)	Duplication (frameshift variant)	Myoclonus +4 more	GPathogenic
Select item 373970	NM_001077365.2(POMT1):c.1793G>A (p.Arg598Gln)	POMT1 (R620Q +10 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive limb-girdle muscular dystrophy type 2K +8 more	GUncertain significance
Select item 373952	NM_006772.3(SYNGAP1):c.3200del (p.Pro1067fs)	SYNGAP1, SYNGAP1-AS1 (P1053fs +1 more)	Deletion (frameshift variant)	Intellectual disability, autosomal dominant 5	GLikely pathogenic
Select item 373933	NM_001127222.2(CACNA1A):c.574C>T (p.Arg192Trp)	CACNA1A (R192W)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +2 more	GConflicting classifications of pathogenicity
Select item 373927	NM_001130823.3(DNMT1):c.2718C>G (p.Phe906Leu)	DNMT1 (F906L +2 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +6 more	GUncertain significance
Select item 373217	NM_003172.4(SURF1):c.751+5G>A	SURF1	Single nucleotide variant (intron variant)	Cerebellar ataxia +6 more	GConflicting classifications of pathogenicity
Select item 355928	NM_182961.4(SYNE1):c.3670-14del	SYNE1	Deletion (intron variant)	Emery-Dreifuss muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 355910	NM_182961.4(SYNE1):c.7713-19_7713-13dup	SYNE1	Duplication (intron variant)	Cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 355909	NM_182961.4(SYNE1):c.7713-18_7713-13dup	SYNE1	Duplication (intron variant)	Cerebellar ataxia +2 more	GConflicting classifications of pathogenicity
Select item 355906	NM_182961.4(SYNE1):c.7713-12_7713-11delinsTTTTTTTCT	SYNE1	Indel (intron variant)	Cerebellar ataxia +1 more	GUncertain significance
Select item 355890	NM_182961.4(SYNE1):c.10302A>G (p.Leu3434=)	SYNE1	Single nucleotide variant (synonymous variant)	Cerebellar ataxia +1 more	GUncertain significance
Select item 355885	NM_182961.4(SYNE1):c.11581-15dup	SYNE1	Duplication (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +5 more	GBenign
Select item 355831	NM_182961.4(SYNE1):c.21523-8dup	SYNE1, LOC126859836	Duplication (intron variant)	Emery-Dreifuss muscular dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 355828	NM_182961.4(SYNE1):c.21980T>A (p.Leu7327His)	SYNE1 (L7256H +1 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +1 more	GUncertain significance
Select item 355810	NM_182961.4(SYNE1):c.25070G>A (p.Arg8357His)	SYNE1 (R8309H +3 more)	Single nucleotide variant (missense variant)	Cerebellar ataxia +1 more	GUncertain significance
Select item 355797	NM_182961.4(SYNE1):c.*580del	ESR1, SYNE1	Deletion (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 355795	NM_182961.4(SYNE1):c.666_667del	ESR1, SYNE1	Deletion (3 prime UTR variant +1 more)	Cerebellar ataxia +1 more	GBenign
Select item 355794	NM_182961.4(SYNE1):c.*667del	ESR1, SYNE1	Deletion (3 prime UTR variant +1 more)	Emery-Dreifuss muscular dystrophy +1 more	GUncertain significance
Select item 290551	NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 284568	NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=)	LOC126859836, SYNE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 283754	NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=)	SYNE1	Single nucleotide variant (synonymous variant)	Cerebellar ataxia +4 more	GConflicting classifications of pathogenicity
Select item 267929	46;XY;t(10;14)(p13;q32.1)dn		Translocation	Absent speech +4 more	GUncertain significance
Select item 267858	46;XX;t(1;19)(p34.1;p13.1)dn		Translocation	Atypical behavior +4 more	GLikely pathogenic
Select item 242514	NM_182961.4(SYNE1):c.9625A>T (p.Lys3209Ter)	SYNE1 (K3209* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	CIZ1, DNM1 (V47M)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 31 +7 more	GPathogenic/Likely pathogenic
Select item 214652	NM_014874.4(MFN2):c.314C>T (p.Thr105Met)	MFN2 (T105M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +3 more	GPathogenic/Likely pathogenic
Select item 212300	NM_006946.4(SPTBN2):c.181A>G (p.Lys61Glu)	SPTBN2 (K61E)	Single nucleotide variant (missense variant)	Cerebellar ataxia +1 more	GLikely pathogenic
Select item 207429	NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	STXBP1 (R367* +3 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia +7 more	GPathogenic
Select item 199206	NM_182961.4(SYNE1):c.17203-7_17203-6del	SYNE1	Deletion (intron variant)	SYNE1-related condition +4 more	GBenign/Likely benign

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