ClinVar for MedGen (Select 346841) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1802172	NM_000243.3(MEFV):c.[2080A>G];[2177T>C]			Familial Mediterranean fever	GPathogenic
Select item 1252017	NM_019100.5(DMAP1):c.511T>C (p.Phe171Leu)	DMAP1 (F171L)	Single nucleotide variant (missense variant)	Generalized hypotonia +1 more	GUncertain significance
Select item 1172673	NM_000252.3(MTM1):c.1400del (p.Leu467fs)	MTM1 (L430fs +1 more)	Deletion (frameshift variant)	Generalized hypotonia	GPathogenic
Select item 1172625	NM_031263.4(HNRNPK):c.452T>A (p.Ile151Asn)	HNRNPK, HNRNPK-AS1 (I127N +1 more)	Single nucleotide variant (missense variant)	Generalized hypotonia	GLikely pathogenic
Select item 1047903	GRCh37/hg19 4p16.3(chr4:388344-3872380)	HGFAC, HTT +48 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 1047900	GRCh37/hg19 12q24.21(chr12:116484240-116564043)	MED13L	Copy number loss	Generalized hypotonia +1 more	GPathogenic
Select item 997077	GRCh37/hg19 Xp22.33(chrX:61091-787353)		Copy number loss	Generalized hypotonia +3 more	GPathogenic
Select item 812931	NC_000023.11:g.41506506_41542250del	CASK	Deletion	Dystonic disorder +4 more	GLikely pathogenic
Select item 812923	NC_000005.10:g.139189727_139201554del	SIL1	Deletion	Global developmental delay +8 more	GPathogenic
Select item 807299	NM_001278512.2(AP3B2):c.881A>C (p.Lys294Thr)	AP3B2, CPEB1-AS1 (K262T +1 more)	Single nucleotide variant (missense variant)	Autism +11 more	GUncertain significance
Select item 691885	NM_001039348.3(EFEMP1):c.615T>A (p.Tyr205Ter)	EFEMP1 (Y205*)	Single nucleotide variant (nonsense)	Dural ectasia +13 more	GPathogenic
Select item 691884	NM_001039348.3(EFEMP1):c.320_324del (p.Met107fs)	EFEMP1 (M107fs)	Deletion (frameshift variant)	Dural ectasia +13 more	GPathogenic
Select item 691798	NM_001346249.2(RALGAPA1):c.4745A>G (p.Asn1582Ser)	RALGAPA1 (N1535S +4 more)	Single nucleotide variant (missense variant)	Infantile spasms +3 more	GPathogenic
Select item 691797	NM_001346249.2(RALGAPA1):c.7250C>G (p.Ser2417Ter)	RALGAPA1 (S1911* +4 more)	Single nucleotide variant (nonsense)	Infantile spasms +3 more	GPathogenic
Select item 691796	NM_001346249.2(RALGAPA1):c.610G>T (p.Glu204Ter)	RALGAPA1 (E204*)	Single nucleotide variant (nonsense)	Infantile spasms +3 more	GPathogenic
Select item 691795	NM_001346249.2(RALGAPA1):c.6510del (p.Phe2170fs)	RALGAPA1 (F1711fs +4 more)	Deletion (frameshift variant)	Infantile spasms +3 more	GPathogenic
Select item 691794	NM_001346249.2(RALGAPA1):c.1126C>T (p.Arg376Ter)	RALGAPA1 (R376*)	Single nucleotide variant (nonsense)	Infantile spasms +3 more	GPathogenic
Select item 690370	NM_032536.4(NTNG2):c.376dup (p.Ser126fs)	NTNG2 (S126fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia +4 more	GPathogenic
Select item 689477	NM_002599.5(PDE2A):c.1180C>T (p.Gln394Ter)	PDE2A (Q387* +3 more)	Single nucleotide variant (nonsense)	EEG abnormality +5 more	GPathogenic
Select item 635405	NM_005859.5(PURA):c.640G>T (p.Glu214Ter)	PURA (E214*)	Single nucleotide variant (nonsense)	Limb dystonia +3 more	GPathogenic/Likely pathogenic
Select item 632442	NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs)	SRD5A3, SRD5A3-AS1 (F318fs)	Deletion (frameshift variant)	Inborn genetic diseases +6 more	GUncertain significance
Select item 625211	NM_007325.5(GRIA3):c.2327C>T (p.Thr776Met)	GRIA3 (T776M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 623485	NM_014462.3(LSM1):c.231+4A>C	LSM1	Single nucleotide variant (intron variant)	Triphalangeal thumb +19 more	GUncertain significance
Select item 599400	NM_001378418.1(TCF20):c.4774C>T (p.Gln1592Ter)	TCF20 (Q1592*)	Single nucleotide variant (nonsense)	Hypotelorism +2 more	GPathogenic
Select item 599006	NM_000252.3(MTM1):c.1262G>T (p.Arg421Leu)	MTM1 (R421L +1 more)	Single nucleotide variant (missense variant)	not provided +14 more	GPathogenic/Likely pathogenic
Select item 599002	NM_005654.6(NR2F1):c.265T>C (p.Cys89Arg)	NR2F1, NR2F1-AS1 (C89R)	Single nucleotide variant (missense variant)	Polyphagia +12 more	GUncertain significance
Select item 598998	NM_007117.5(TRH):c.25G>A (p.Ala9Thr)	TRH (A9T)	Single nucleotide variant (missense variant)	Brachycephaly +4 more	GUncertain significance
Select item 598997	NM_000388.4(CASR):c.1609-27C>T	CASR (L538F)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant hypocalcemia 1 +6 more	GConflicting classifications of pathogenicity
Select item 598986	NM_001127.4(AP1B1):c.637G>A (p.Glu213Lys)	AP1B1 (E213K +1 more)	Single nucleotide variant (missense variant)	Sensory neuropathy +7 more	GUncertain significance
Select item 598983	NM_014491.4(FOXP2):c.1782_1783delinsTA (p.Leu594_Val595delinsPheIle)	FOXP2	Indel (missense variant +1 more)	Generalized hypotonia +6 more	GUncertain significance
Select item 598982	NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter)	OBSL1 (W1114*)	Single nucleotide variant (nonsense)	Coarctation of aorta +12 more	GUncertain significance
Select item 598981	NM_015311.3(OBSL1):c.2980C>T (p.Arg994Cys)	OBSL1 (R994C)	Single nucleotide variant (missense variant)	Heart block +12 more	GUncertain significance
Select item 598978	NM_001317778.2(SFTPC):c.163C>T (p.Leu55Phe)	SFTPC (L55F)	Single nucleotide variant (missense variant +1 more)	Myopathy +14 more	GLikely pathogenic
Select item 598975	NM_182914.3(SYNE2):c.19624G>T (p.Gly6542Trp)	SYNE2 (G6542W +3 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 5, autosomal dominant +10 more	GUncertain significance
Select item 598974	NM_000540.3(RYR1):c.10097G>T (p.Arg3366Leu)	RYR1 (R3366L)	Single nucleotide variant (missense variant)	RYR1-Related Disorders +12 more	GConflicting classifications of pathogenicity
Select item 598968	NM_001379110.1(SLC9A6):c.1662-19_1662-3del	SLC9A6	Deletion (intron variant)	Autism +14 more	GLikely pathogenic
Select item 598967	NM_001379451.1(BCORL1):c.532A>G (p.Thr178Ala)	BCORL1 (T178A)	Single nucleotide variant (missense variant)	Stereotypic movement disorder +22 more	GUncertain significance
Select item 598959	NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	CREBBP (R1868Q +1 more)	Single nucleotide variant (missense variant)	Rubinstein-Taybi syndrome +12 more	GPathogenic/Likely pathogenic
Select item 598958	NM_000393.5(COL5A2):c.1842G>A (p.Met614Ile)	COL5A2 (M614I)	Single nucleotide variant (missense variant)	High palate +9 more	GUncertain significance
Select item 598957	NM_003737.4(DCHS1):c.877G>A (p.Glu293Lys)	DCHS1 (E293K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 598956	NM_003737.4(DCHS1):c.1679C>T (p.Ser560Phe)	DCHS1 (S560F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 598946	NM_003470.3(USP7):c.383+1G>C	USP7	Single nucleotide variant (splice donor variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 598945	NM_003470.3(USP7):c.333C>G (p.His111Gln)	USP7 (H111Q +3 more)	Single nucleotide variant (missense variant +1 more)	Generalized hypotonia +5 more	GUncertain significance
Select item 590777	NM_001378418.1(TCF20):c.3605dup (p.Pro1203fs)	TCF20 (P1203fs)	Duplication (frameshift variant)	Failure to thrive +4 more	GPathogenic
Select item 559443	NM_006295.3(VARS1):c.3214T>C (p.Phe1072Leu)	VARS1 (F1072L)	Single nucleotide variant (missense variant)	Microcephaly +7 more	GConflicting classifications of pathogenicity
Select item 559442	NM_006295.3(VARS1):c.65C>A (p.Ala22Asp)	VARS1 (A22D)	Single nucleotide variant (missense variant)	Generalized hypotonia +5 more	GUncertain significance
Select item 523684	NM_006593.4(TBR1):c.1652dup (p.Gln552fs)	TBR1 (Q552fs)	Duplication (frameshift variant)	Hypoplastic anterior commissure +9 more	GLikely pathogenic
Select item 523563	NM_172107.4(KCNQ2):c.869G>T (p.Gly290Val)	KCNQ2 (G290V)	Single nucleotide variant (missense variant)	Seizure +1 more	GPathogenic
Select item 523562	NM_153704.6(TMEM67):c.2418_2423dup (p.805_806MN[3])	TMEM67	Duplication (inframe_insertion +1 more)	Nystagmus +3 more	GLikely pathogenic
Select item 523510	NM_015100.4(POGZ):c.2771del (p.Pro924fs)	POGZ (P924fs +4 more)	Deletion (frameshift variant)	Downturned corners of mouth +16 more	GPathogenic
Select item 523498	NM_012310.5(KIF4A):c.1553G>C (p.Arg518Pro)	KIF4A (R518P)	Single nucleotide variant (missense variant)	Generalized hypotonia +9 more	GUncertain significance
Select item 523478	NM_004975.4(KCNB1):c.935G>A (p.Arg312His)	KCNB1 (R312H)	Single nucleotide variant (missense variant)	Intellectual disability +7 more	GPathogenic/Likely pathogenic
Select item 523409	NM_001127222.2(CACNA1A):c.5419G>T (p.Ala1807Ser)	CACNA1A (A1808S +3 more)	Single nucleotide variant (missense variant)	Strabismus +2 more	GLikely pathogenic
Select item 523371	NM_000489.6(ATRX):c.5026G>T (p.Gly1676Cys)	ATRX (G1676C +1 more)	Single nucleotide variant (missense variant)	Absent speech +6 more	GLikely pathogenic
Select item 523360	NM_000352.6(ABCC8):c.1024G>T (p.Gly342Trp)	ABCC8 (G342W +1 more)	Single nucleotide variant (missense variant +1 more)	Maturity onset diabetes mellitus in young +13 more	GConflicting classifications of pathogenicity
Select item 523331	NM_000098.3(CPT2):c.1436A>T (p.Tyr479Phe)	CPT2 (Y479F)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +10 more	GConflicting classifications of pathogenicity
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
Select item 523283	GRCh37/hg19 7q11.23(chr7:72766313-74133332)	ABHD11, ABHD11-AS1 +23 more	Copy number loss	Generalized hypotonia +2 more	GPathogenic
Select item 523277	GRCh37/hg19 2p16.1-15(chr2:60308869-62368583)	USP34, XPO1 +10 more	Copy number gain	Macrocephaly +2 more	GLikely pathogenic
Select item 523275	GRCh37/hg19 22q11.21(chr22:21081260-21431174)	AIFM3, SNAP29 +7 more	Copy number gain	Intellectual disability, mild +8 more	GUncertain significance
Select item 523274	GRCh37/hg19 22q11.21(chr22:18894835-21505417)	CLTCL1, COMT +45 more	Copy number loss	Pes planus +13 more	GPathogenic
Select item 523270	GRCh37/hg19 1q32.1-32.3(chr1:204682513-212815646)	EIF2D, LPGAT1 +75 more	Copy number loss	Global developmental delay +2 more	GPathogenic
Select item 523258	GRCh37/hg19 17p11.2(chr17:16936603-18184130)	ALKBH5, MIEF2 +20 more	Copy number loss	Brachydactyly +14 more	GPathogenic
Select item 523255	GRCh37/hg19 16p11.2(chr16:29656684-30197341)	ASPHD1, C16orf54 +25 more	Copy number gain	Intellectual disability, mild +8 more	GLikely pathogenic
Select item 523252	GRCh37/hg19 15q25.2-25.3(chr15:85149690-85666309)	WDR73, ALPK3 +6 more	Copy number loss	Hearing impairment +1 more	GUncertain significance
Select item 523250	GRCh37/hg19 15q13.2-13.3(chr15:30366065-32899558)	ARHGAP11B, CHRFAM7A +11 more	Copy number gain	Short attention span +12 more	GPathogenic
Select item 523247	GRCh37/hg19 13q33.1(chr13:101849920-101885422)	NALCN	Copy number loss	Generalized hypotonia +1 more	GUncertain significance
Select item 510229	NM_001382391.1(CSPP1):c.3296A>G (p.Glu1099Gly)	ARFGEF1, CSPP1 (E1094G +7 more)	Single nucleotide variant (missense variant)	Global developmental delay +8 more	GConflicting classifications of pathogenicity
Select item 506012	NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	TMEM67 (R172* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial aplasia of the vermis +11 more	GPathogenic/Likely pathogenic
Select item 460433	NM_000098.3(CPT2):c.236A>C (p.Lys79Thr)	CPT2 (K79T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +13 more	GUncertain significance
Select item 458712	NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)	POLG, POLGARF (R1081Q)	Single nucleotide variant (missense variant)	not provided +13 more	GConflicting classifications of pathogenicity
Select item 440463	NM_019066.5(MAGEL2):c.1996del (p.Gln666fs)	MAGEL2 (Q666fs)	Deletion (frameshift variant)	Generalized hypotonia +4 more	GPathogenic
Select item 426517	NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter)	ASXL3 (S1155*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 409952	NM_030973.4(MED25):c.1778_1779del (p.Gln593fs)	MED25 (Q593fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 2 +8 more	GUncertain significance
Select item 376786	NM_003737.4(DCHS1):c.379G>A (p.Val127Ile)	DCHS1 (V127I)	Single nucleotide variant (missense variant)	Abnormal renal pelvis morphology +11 more	GBenign/Likely benign
Select item 375502	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)	EBF3 (E94fs)	Deletion (frameshift variant)	Vesicoureteral reflux +7 more	GPathogenic
Select item 375394	NM_001037161.2(ACOT1):c.410_423del (p.Glu137fs)	ACOT1, HEATR4 (E137fs)	Deletion (frameshift variant +1 more)	Generalized hypotonia	GPathogenic
Select item 375384	NM_003490.4(SYN3):c.1444_1445delinsTT (p.Pro482Leu)	SYN3 (P481L +1 more)	Indel (missense variant +1 more)	Cerebellar vermis atrophy +4 more	GPathogenic
Select item 375383	NM_033066.3(MPP4):c.946T>C (p.Trp316Arg)	MPP4 (W316R)	Single nucleotide variant (missense variant)	High palate +6 more	GPathogenic
Select item 375375	NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)	EBF3 (G171D)	Single nucleotide variant (missense variant)	Generalized hypotonia +4 more	GPathogenic
Select item 375373	NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)	DHX30 (R782W +2 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with severe motor impairment and absent language +1 more	GPathogenic
Select item 374147	NM_006940.6(SOX5):c.904C>T (p.Pro302Ser)	SOX5 (P289S +3 more)	Single nucleotide variant (missense variant)	Severe global developmental delay +2 more	GLikely pathogenic
Select item 374077	NM_000302.4(PLOD1):c.1562G>A (p.Trp521Ter)	PLOD1 (W521* +1 more)	Single nucleotide variant (nonsense)	Narrow chest +18 more	GPathogenic
Select item 374026	NM_006940.6(SOX5):c.482-2A>C	SOX5	Single nucleotide variant (splice acceptor variant)	Lamb-Shaffer syndrome +5 more	GLikely pathogenic
Select item 373949	NM_139058.3(ARX):c.1579_1582del (p.Arg527fs)	ARX (R527fs)	Microsatellite (frameshift variant)	Generalized hypotonia	GLikely pathogenic
Select item 373940	NM_006772.3(SYNGAP1):c.2115G>A (p.Lys705=)	SYNGAP1, SYNGAP1-AS1	Single nucleotide variant (synonymous variant)	Intellectual disability, autosomal dominant 5	GUncertain significance
Select item 373906	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD (G14fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 370046	NC_012920.1:m.3624A>G	MT-ND1	Single nucleotide variant	Generalized hypotonia +1 more	GUncertain significance
Select item 316268	NM_000338.3(SLC12A1):c.2255C>T (p.Ala752Val)	SLC12A1 (A752V)	Single nucleotide variant (missense variant)	not provided +10 more	GConflicting classifications of pathogenicity
Select item 267882	46;XX;inv(7)(q11.23q36.3)dn		Inversion	Congenital finger flexion contractures +13 more	GPathogenic
Select item 260843	NM_001134831.2(AHI1):c.2299G>T (p.Val767Leu)	AHI1 (V767L)	Single nucleotide variant (missense variant)	Congenital ptosis +7 more	GConflicting classifications of pathogenicity
Select item 225633	NM_001385079.1(PDE10A):c.1118A>G (p.Tyr373Cys)	PDE10A (Y107C +2 more)	Single nucleotide variant (missense variant)	Infantile-onset generalized dyskinesia with orofacial involvement +2 more	GPathogenic/Likely pathogenic
Select item 221295	NM_020771.4(HACE1):c.805C>T (p.Arg269Ter)	HACE1 (R269* +8 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 217458	NM_014225.6(PPP2R1A):c.773G>A (p.Arg258His)	PPP2R1A (R258H +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +11 more	GPathogenic/Likely pathogenic
Select item 210306	NM_001374828.1(ARID1B):c.6337C>T (p.Arg2113Ter)	ARID1B (R1990* +5 more)	Single nucleotide variant (nonsense)	Dysphagia +12 more	GPathogenic
Select item 203056	NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln)	TTN-AS1, TTN (E31842Q +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +15 more	GConflicting classifications of pathogenicity
Select item 203055	NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly)	TTN, TTN-AS1 (W31837G +5 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +15 more	GConflicting classifications of pathogenicity
Select item 202555	NM_001267550.2(TTN):c.30389G>A (p.Arg10130His)	TTN (R10130H +2 more)	Single nucleotide variant (missense variant +1 more)	Dilated cardiomyopathy 1G +14 more	GConflicting classifications of pathogenicity
Select item 198157	NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter)	STXBP1 (R122* +2 more)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts +10 more	GPathogenic
Select item 158186	NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)	CDKL5 (Q208*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +8 more	GPathogenic

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