ClinVar for MedGen (Select 10133) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571628	NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)	PTK2 (R124* +34 more)	Single nucleotide variant (nonsense +1 more)	Autism +10 more	GUncertain significance
Select item 2570691	NM_001171876.2(MCF2):c.2462G>T (p.Gly821Val)	MCF2 (G821V +4 more)	Single nucleotide variant (missense variant)	Failure to thrive +1 more	GUncertain significance
Select item 2570682	NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)	DNAH14 (K1136Q)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
Select item 2570681	NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)	DNAH14 (L1746S)	Single nucleotide variant (missense variant)	Seizure +4 more	GUncertain significance
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 2570664	NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)	SYVN1 (Y23C)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 2570663	NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)	SYVN1 (A13V)	Single nucleotide variant (missense variant)	Seizure +8 more	GUncertain significance
Select item 1804057	NM_003601.4(SMARCA5):c.2677G>A (p.Glu893Lys)	SMARCA5 (E893K)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GPathogenic
Select item 1803962	NM_001374736.1(DST):c.5850del (p.Pro1950_Val1951insTer)	DST	Deletion (intron variant +1 more)	Global developmental delay +3 more	GPathogenic
Select item 1802600	NM_017777.4(MKS1):c.[1115_1117del;1476T>G]	MKS1 (C492W +3 more)	Single nucleotide variant (missense variant +2 more)	Bardet-Biedl syndrome 13	GLikely pathogenic
Select item 1710148	NM_001303512.2(PDZD4):c.2208G>C (p.Lys736Asn)	PDZD4 (K621N +5 more)	Single nucleotide variant (missense variant)	Hand tremor +4 more	GUncertain significance
Select item 1705939	GRCh37/hg19 15q11.2(chr15:22770421-25648680)x1	CYFIP1, GOLGA6L2 +20 more	Copy number loss	Hypotonia	GPathogenic
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
Select item 1703579	GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	SCML2, SEPTIN6 +822 more	Copy number gain	Hypotonia +2 more	GPathogenic
Select item 1697213	NM_001659.3(ARF3):c.379A>G (p.Lys127Glu)	ARF3 (K127E)	Single nucleotide variant (missense variant)	Hypotonia +6 more	GPathogenic
Select item 1697212	NM_001659.3(ARF3):c.277G>A (p.Asp93Asn)	ARF3 (D93N)	Single nucleotide variant (missense variant)	Neurodevelopmental delay +17 more	GPathogenic/Likely pathogenic
Select item 1684581	NM_001378120.1(MBD5):c.295C>G (p.Leu99Val)	MBD5 (L99V)	Single nucleotide variant (missense variant)	Hypotonia	GUncertain significance
Select item 1684509	NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)	MTCL3, SOGA3-KIAA0408 (G778R)	Single nucleotide variant (non-coding transcript variant +1 more)	Decreased body weight +6 more	GUncertain significance
Select item 1683530	NM_001110556.2(FLNA):c.571G>T (p.Asp191Tyr)	FLNA (D191Y)	Single nucleotide variant (missense variant)	Hypotonia +3 more	GUncertain significance
Select item 1683500	NM_000287.4(PEX6):c.1680C>G (p.Pro560=)	PEX6	Single nucleotide variant (synonymous variant +1 more)	Megalencephaly +4 more	GUncertain significance
Select item 1342911	NM_001252102.2(KIF21B):c.433G>C (p.Ala145Pro)	KIF21B (A145P)	Single nucleotide variant (missense variant)	Hypotonia +3 more	GUncertain significance
Select item 1342850	NM_001378183.1(PIEZO2):c.410G>A (p.Trp137Ter)	PIEZO2 (W137*)	Single nucleotide variant (nonsense)	Hypotonia	GLikely pathogenic
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 1327422	NM_001161352.2(KCNMA1):c.3619C>A (p.His1207Asn)	KCNMA1 (H1099N +9 more)	Single nucleotide variant (missense variant)	Generalized epilepsy-paroxysmal dyskinesia syndrome	GUncertain significance
Select item 1297468	NM_001145250.2(SP9):c.1216del (p.His406fs)	SP9 (H406fs)	Deletion (frameshift variant)	Convulsive status epilepticus +5 more	GPathogenic
Select item 1297467	NM_001145250.2(SP9):c.1133A>G (p.Glu378Gly)	SP9 (E378G)	Single nucleotide variant (missense variant)	SP9-associated disorder	GPathogenic
Select item 1184823	NM_001099922.3(ALG13):c.2915G>T (p.Gly972Val)	ALG13 (G894V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1172642	NM_001142416.2(AIMP1):c.82C>T (p.Gln28Ter)	AIMP1 (Q28*)	Single nucleotide variant (nonsense)	Hypotonia	GPathogenic
Select item 1172595	NM_003470.3(USP7):c.2596C>T (p.Gln866Ter)	USP7 (Q767* +3 more)	Single nucleotide variant (nonsense +1 more)	Hypotonia +2 more	GPathogenic/Likely pathogenic
Select item 981181	NM_017739.4(POMGNT1):c.1111-9C>G	TSPAN1, POMGNT1	Single nucleotide variant (intron variant)	Hypotonia	GUncertain significance
Select item 981180	NM_022041.4(GAN):c.141C>G (p.Ile47Met)	GAN, LOC130059498 (I47M)	Single nucleotide variant (missense variant +1 more)	Hypotonia	GLikely pathogenic
Select item 978556	NM_001127671.2(LIFR):c.1886-9T>A	LIFR	Single nucleotide variant (intron variant)	Absent speech +5 more	GUncertain significance
Select item 974617	NM_001286.5(CLCN6):c.1658A>G (p.Tyr553Cys)	CLCN6 (Y531C +1 more)	Single nucleotide variant (missense variant +1 more)	Global developmental delay +12 more	GConflicting classifications of pathogenicity
Select item 973608	GRCh37/hg19 3p14.2(chr3:62939217-63583768)x3	SYNPR	Copy number gain	Hypotonia +2 more	GUncertain significance
Select item 973607	GRCh37/hg19 10q21.1(chr10:58932423-59272160)x1		Copy number loss	Hypotonia +2 more	GUncertain significance
Select item 973606	GRCh37/hg19 13q12.2(chr13:27876782-28102260)x3	GTF3A, MTIF3	Copy number gain	Hypotonia +2 more	GUncertain significance
Select item 930179	NM_015114.3(ANKLE2):c.1870C>T (p.Arg624Ter)	ANKLE2 (R624*)	Single nucleotide variant (nonsense)	Microcephaly 16, primary, autosomal recessive +3 more	GPathogenic
Select item 916029	NM_000834.5(GRIN2B):c.1439_1446del (p.Leu480fs)	GRIN2B (L480fs)	Deletion (frameshift variant)	Atypical behavior +6 more	GPathogenic
Select item 915836	NM_016035.5(COQ4):c.[577C>T;718C>T]	COQ4 (R240C +1 more)	Single nucleotide variant (missense variant +2 more)	Dysmetria +5 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 804386	NM_001134225.2(INPP4A):c.352_353del (p.Ser118fs)	INPP4A (S118fs)	Microsatellite (frameshift variant)	Pectus excavatum +4 more	GLikely pathogenic
Select item 694501	NM_020971.3(SPTBN4):c.3949-1G>A	SPTBN4	Single nucleotide variant (splice acceptor variant)	Hypotonia +2 more	GUncertain significance
Select item 689567	NM_000426.4(LAMA2):c.1288G>T (p.Glu430Ter)	LAMA2 (E430*)	Single nucleotide variant (nonsense)	Hypotonia	GLikely pathogenic
Select item 659092	NM_012479.4(YWHAG):c.169C>T (p.Arg57Cys)	YWHAG (R57C)	Single nucleotide variant (missense variant)	not provided +10 more	GPathogenic
Select item 638688	NM_005909.5(MAP1B):c.5368C>T (p.Arg1790Ter)	MAP1B (R1790* +1 more)	Single nucleotide variant (nonsense)	Periventricular nodular heterotopia 9	GPathogenic
Select item 599269	NM_004947.5(DOCK3):c.1038-2A>G	DOCK3	Single nucleotide variant (splice acceptor variant)	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +2 more	GPathogenic
Select item 599268	NM_004947.5(DOCK3):c.3107_3110del (p.Tyr1036fs)	DOCK3 (Y1036fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia +2 more	GPathogenic
Select item 590780	NM_001378418.1(TCF20):c.5725C>T (p.His1909Tyr)	TCF20 (H1909Y)	Single nucleotide variant (missense variant)	Neurodevelopmental abnormality	GPathogenic
Select item 560389	NM_005548.3(KARS1):c.1354del (p.Leu452fs)	LOC126862402, KARS1 (L452fs +2 more)	Deletion (frameshift variant)	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS +4 more	GPathogenic
Select item 560227	NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)	ATP6V0A1 (R741Q +22 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +12 more	GConflicting classifications of pathogenicity
Select item 523526	NM_001365276.2(TNXB):c.6349_6352del (p.Val2117fs)	TNXB (V2117fs)	Deletion (frameshift variant)	Cyanosis +6 more	GUncertain significance
Select item 523525	NM_001365276.2(TNXB):c.5052C>A (p.Asp1684Glu)	TNXB (D1684E)	Single nucleotide variant (missense variant)	Cyanosis +7 more	GUncertain significance
Select item 523519	NM_017777.4(MKS1):c.1166-2A>C	MKS1	Single nucleotide variant (splice acceptor variant)	Polydactyly +2 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 523475	NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)	RPS6KA3 (Q508*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +7 more	GPathogenic
Select item 523340	NM_000257.4(MYH7):c.5746C>T (p.Gln1916Ter)	MYH7 (Q1916*)	Single nucleotide variant (nonsense)	Primary dilated cardiomyopathy +1 more	GUncertain significance
Select item 523303	GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3	ARID1B, TMEM242 +1 more	Copy number gain	Hypotonia +7 more	GUncertain significance
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	SEC16A, SEC61B +553 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 523278	GRCh37/hg19 3p26.3-26.1(chr3:93949-5427855)	ARL8B, BHLHE40 +12 more	Copy number loss	Hypotonia +2 more	GLikely pathogenic
Select item 523269	GRCh37/hg19 1p36.33-36.31(chr1:834101-6076140)	CCDC27, MIR200B +79 more	Copy number loss	Primary dilated cardiomyopathy +2 more	GPathogenic
Select item 523266	GRCh37/hg19 19p13.3(chr19:259395-3152419)	GNA11, GNA15 +100 more	Copy number gain	Hypotonia +2 more	GLikely pathogenic
Select item 427768	NM_000540.3(RYR1):c.4160+1G>A	RYR1	Single nucleotide variant (splice donor variant)	RYR1-Related Disorders +5 more	GLikely pathogenic
Select item 426476	NM_017946.4(FKBP14):c.357T>G (p.Ile119Met)	FKBP14, FKBP14-AS1 (I119M)	Single nucleotide variant (missense variant +1 more)	Hypotonia +3 more	GUncertain significance
Select item 420362	NM_145199.3(LIPT1):c.369del (p.Lys123fs)	LIPT1, MITD1 (K123fs)	Deletion (frameshift variant +1 more)	Hypotonia +7 more	GConflicting classifications of pathogenicity
Select item 418123	NM_025114.4(CEP290):c.7220_7223del (p.Lys2407fs)	CEP290, RLIG1 (K2407fs)	Deletion (frameshift variant +1 more)	Hypotonia +10 more	GPathogenic/Likely pathogenic
Select item 374241	NM_018249.6(CDK5RAP2):c.1772G>A (p.Arg591Gln)	CDK5RAP2 (R591Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 374087	NM_001429.4(EP300):c.2053+4A>T	EP300	Single nucleotide variant (intron variant)	Menke-Hennekam syndrome 2 +7 more	GUncertain significance
Select item 373939	NM_002025.4(AFF2):c.3209A>G (p.His1070Arg)	AFF2 (H1070R +4 more)	Single nucleotide variant (missense variant)	Intellectual disability, moderate +6 more	GUncertain significance
Select item 373929	NM_001376.5(DYNC1H1):c.1802T>A (p.Ile601Asn)	DYNC1H1 (I601N)	Single nucleotide variant (missense variant)	Polymicrogyria +3 more	GLikely pathogenic
Select item 370057	NC_012920.1:m.12018C>G	MT-ND4	Single nucleotide variant	Microcephaly +10 more	GUncertain significance
Select item 370056	NC_012920.1:m.12013A>G	MT-ND4	Single nucleotide variant	Microcephaly +10 more	GUncertain significance
Select item 370053	NC_012920.1:m.11815C>G	MT-ND4	Single nucleotide variant	Developmental delay +5 more	GUncertain significance
Select item 279809	NM_017946.4(FKBP14):c.362dup (p.Glu122fs)	FKBP14, FKBP14-AS1 (E122fs)	Duplication (frameshift variant +1 more)	Cardiovascular phenotype +3 more	GPathogenic/Likely pathogenic
Select item 268156	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3 (R163Q)	Single nucleotide variant (missense variant)	Intellectual disability +8 more	GPathogenic
Select item 268155	NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)	EBF3 (R163L)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic
Select item 268043	46;XY;der(2)inv(2)(p21p22);der(5)t(5;7)(p14.3;q32);der(7)t(7;2;5)(7pter-7p22.3::7q32-7p22.3::5p14.3-5p15.1::2p22-2p21::5p15.1-5pter)dn		Complex	Setting-sun eye phenomenon +16 more	GPathogenic
Select item 268039	46;XY;t(3;18)(q13.31;q22.1)dn		Translocation	Brisk reflexes +29 more	GPathogenic
Select item 268037	46;XY;t(2;14)(p22;q24.3)dn		Translocation	Hypotonia +11 more	GLikely pathogenic
Select item 268027	46;XY;t(2;5)(q11.2;q33.1)dn		Translocation	Hypotonia +6 more	GUncertain significance
Select item 268021	46;X;idic(Y)(q11);t(2;6;12;3)(q24;q23;q12;p13)[21]/46;XY;t(2;6;12;3)dn		Complex	Clubfoot +9 more	GUncertain significance
Select item 268012	46;XX;t(X;19)(p11.4;q13.3)		Translocation	Intellectual disability, mild +2 more	GUncertain significance
Select item 268010	46;XX;t(2;10)(p23;q22.1)dn		Translocation	Large for gestational age +9 more	GPathogenic
Select item 268009	46;X;t(X;3)(p21.3;p25.1)dn		Translocation	Dolichocephaly +11 more	GPathogenic
Select item 268007	46;XX;t(5;17)(p15.31~32;q25.3)dn		Translocation	Hypotonia +10 more	GUncertain significance
Select item 268006	46;XY;t(6;11)(p12.3;p14.2)dn		Translocation	Lumbar hypertrichosis +12 more	GPathogenic
Select item 267959	46;XY;t(1;14)(p36.22;q22.1)		Translocation	Dysarthria +2 more	GPathogenic
Select item 267956	46;XY;t(3;18)(q13.3;q21.3)dn		Translocation	Abnormal facial shape +3 more	GPathogenic
Select item 267947	46;XX;t(2;14)(q21;q24.3)dn		Translocation	Choreoathetosis +3 more	GUncertain significance
Select item 267941	46;XY;inv(6)(p22q13)dn		Inversion	Hypotonia +22 more	GPathogenic
Select item 267925	46;XX;t(1;2)(q42.3;q24.2)dn		Translocation	Inversion of nipple +13 more	GUncertain significance
Select item 267922	46;XY;ins(7;10)(q32;q22.1q24.3);t(9;16)(q22;q12.1)dn		Translocation	Athetosis +14 more	GUncertain significance
Select item 267892	46;XX;t(4;14)(p15.2;q13)dn		Translocation	Clinodactyly of the 5th finger +14 more	GLikely pathogenic
Select item 267891	46;XY;t(9;15)(q13;q11.2)dn		Translocation	Receptive language delay +7 more	GPathogenic
Select item 267886	46;XX;inv(5)(p12q13.1)dn		Inversion	Autistic behavior +3 more	GLikely pathogenic
Select item 267879	46;XY;inv(1)(p11q21)dn		Inversion	Tall stature +3 more	GPathogenic
Select item 267878	46;XX;t(1;13)(p36.1;q12.1)dn		Translocation	Isolated Pierre-Robin syndrome +1 more	GUncertain significance
Select item 267876	46;XY;t(2;6)(q32.3;q25.3)dn		Translocation	Growth delay +3 more	GLikely pathogenic
Select item 267873	46;XX;t(7;16)(p15.2;q22)dn		Translocation	Delayed speech and language development +3 more	GUncertain significance

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