C0557874[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 373993	NM_006516.4(SLC2A1):c.470dup (p.Thr158fs)	SLC2A1 (T158fs)	Duplication (frameshift variant)	Myoclonus +4 more	GPathogenic
Select item 39814	NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)	AKT3 (R465W)	Single nucleotide variant (missense variant +1 more)	Macrocephaly +8 more	GPathogenic/Likely pathogenic
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 523267	GRCh37/hg19 1p33-32.3(chr1:50458362-51306889)	AGBL4, DMRTA2 +2 more	Copy number loss	Global developmental delay	GUncertain significance
Select item 374178	NM_001206744.2(TPO):c.1558C>T (p.His520Tyr)	TPO (H520Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of iodide peroxidase +7 more	GLikely pathogenic
Select item 6367	NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg)	SCN1A-AS1, SCN9A (K666R)	Single nucleotide variant (missense variant)	not provided +8 more	GBenign/Likely benign
Select item 523422	NM_001172509.2(SATB2):c.1990C>T (p.Gln664Ter)	LOC126806462, SATB2 (Q664*)	Single nucleotide variant (nonsense)	Microcephaly +6 more	GLikely pathogenic
Select item 523423	NM_001172509.2(SATB2):c.1654_1655del (p.Arg552fs)	SATB2 (R552fs)	Microsatellite (frameshift variant)	not provided +6 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 373906	NM_001370658.1(BTD):c.40_41del (p.Gly14fs)	BTD (G14fs)	Deletion (frameshift variant)	Biotinidase deficiency	GPathogenic
Select item 523403	NM_001904.4(CTNNB1):c.1876G>T (p.Glu626Ter)	CTNNB1 (E626* +1 more)	Single nucleotide variant (nonsense)	Microcephaly +4 more	GLikely pathogenic
Select item 636314	NM_015466.4(PTPN23):c.2747A>G (p.Gln916Arg)	PTPN23 (Q916R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 636316	NM_015466.4(PTPN23):c.2866CAGCCCCATCCT[1] (p.956QPHP[1])	PTPN23	Microsatellite (inframe_deletion)	Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity +1 more	GConflicting classifications of pathogenicity
Select item 523374	NM_000532.5(PCCB):c.763+10C>G	PCCB	Single nucleotide variant (intron variant)	PCCB-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 343477	NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)	PCCB (K474R +1 more)	Single nucleotide variant (missense variant)	Global developmental delay +4 more	GConflicting classifications of pathogenicity
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 873538	NM_005172.2(ATOH1):c.481C>G (p.Arg161Gly)	ATOH1 (R161G)	Single nucleotide variant (missense variant)	See cases +3 more	GUncertain significance
Select item 523281	GRCh37/hg19 4q13.1(chr4:65991029-66411150)	EPHA5	Copy number loss	Global developmental delay	GUncertain significance
Select item 374158	NM_133433.4(NIPBL):c.6242G>C (p.Gly2081Ala)	NIPBL (G2081A)	Single nucleotide variant (missense variant)	Global developmental delay +3 more	GLikely pathogenic
Select item 217570	NM_001384732.1(CPLANE1):c.8425dup (p.Thr2809fs)	CPLANE1 (T2755fs +1 more)	Duplication (frameshift variant)	See cases +4 more	GPathogenic
Select item 217575	NM_001384732.1(CPLANE1):c.7871T>A (p.Leu2624Ter)	CPLANE1 (L2606* +1 more)	Single nucleotide variant (nonsense)	Jaundice +4 more	GPathogenic
Select item 217590	NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)	CPLANE1	Deletion (frameshift variant)	CPLANE1-related disorder +6 more	GPathogenic/Likely 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 978558	NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala)	FBN2 (T2555A)	Single nucleotide variant (missense variant)	Global developmental delay +6 more	GUncertain significance
Select item 159398	NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)	NSD1 (R2017Q +5 more)	Single nucleotide variant (missense variant)	Macrocephaly +16 more	GPathogenic/Likely pathogenic
Select item 523302	GRCh37/hg19 5p14.3-14.2(chr5:22308420-24492723)	PRDM9, CDH12 +2 more	Copy number gain	Global developmental delay +4 more	GUncertain significance
Select item 523494	NM_006772.3(SYNGAP1):c.1697_1700dup (p.Val568fs)	SYNGAP1, SYNGAP1-AS1 (V568fs)	Duplication (frameshift variant)	Motor delay +3 more	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 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 374179	NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)	ARID1B (Q538* +1 more)	Single nucleotide variant (nonsense)	not provided +7 more	GPathogenic
Select item 374133	NM_001374828.1(ARID1B):c.3814del (p.Leu1272fs)	ARID1B (L439fs +3 more)	Deletion (frameshift variant)	Global developmental delay +5 more	GLikely pathogenic
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 374065	NM_015570.4(AUTS2):c.3377ACC[9] (p.His1133dup)	AUTS2	Microsatellite (inframe_insertion)	Autism spectrum disorder due to AUTS2 deficiency +3 more	GConflicting classifications of pathogenicity
Select item 978557	NM_000089.4(COL1A2):c.280-7T>C	COL1A2	Single nucleotide variant (intron variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 180204	NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)	TAF6 (I108T +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 451504	NM_004333.6(BRAF):c.755G>C (p.Arg252Pro)	BRAF (R252P +4 more)	Single nucleotide variant (missense variant)	Noonan syndrome and Noonan-related syndrome +2 more	GConflicting classifications of pathogenicity
Select item 523285	GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)	CDK14, FZD1	Copy number loss	Autism +4 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 39679	NM_015214.3(DDHD2):c.1978G>C (p.Asp660His)	DDHD2 (D660H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 54 +5 more	GPathogenic/Likely pathogenic
Select item 217725	NM_153704.6(TMEM67):c.1321C>T (p.Arg441Cys)	TMEM67 (R360C +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel syndrome, type 3 +23 more	GConflicting classifications of pathogenicity
Select item 1383	NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)	TMEM67 (C615R +1 more)	Single nucleotide variant (missense variant +1 more)	Meckel-Gruber syndrome +26 more	GPathogenic/Likely pathogenic
Select item 523291	GRCh37/hg19 8q23.1(chr8:109990022-110168343)	TRHR	Copy number loss	Intellectual disability, mild +8 more	GUncertain significance
Select item 523458	NM_001032221.6(STXBP1):c.360del (p.Lys120fs)	STXBP1 (K120fs +2 more)	Deletion (frameshift variant)	Macrocephaly +4 more	GPathogenic
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 224142	NM_004408.4(DNM1):c.139G>A (p.Val47Met)	DNM1, CIZ1 (V47M)	Single nucleotide variant (missense variant +1 more)	not provided +7 more	GPathogenic/Likely pathogenic
Select item 374120	NM_024757.5(EHMT1):c.1647+2T>C	EHMT1 (V519A +1 more)	Single nucleotide variant (missense variant +1 more)	Kleefstra syndrome 1 +6 more	GPathogenic/Likely pathogenic
Select item 374034	NM_024757.5(EHMT1):c.2712+1G>A	EHMT1	Single nucleotide variant (splice donor variant)	Kleefstra syndrome 1 +5 more	GPathogenic
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 374088	NM_001776.6(ENTPD1):c.25G>A (p.Val9Met)	ENTPD1, ENTPD1-AS1 (V16M +2 more)	Single nucleotide variant (missense variant +2 more)	Hereditary spastic paraplegia 64 +4 more	GUncertain significance
Select item 39581	NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)	PACS1 (R203W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +13 more	GPathogenic/Likely pathogenic
Select item 93725	NM_001360.3(DHCR7):c.964-1G>C	DHCR7	Single nucleotide variant (splice acceptor variant)	Smith-Lemli-Opitz syndrome +5 more	GPathogenic/Likely pathogenic
Select item 523418	NM_032531.4(KIRREL3):c.1696+19G>C	KIRREL3 (G572A)	Single nucleotide variant (missense variant +1 more)	Difficulty walking +3 more	GUncertain significance
Select item 523505	NM_001330260.2(SCN8A):c.4235T>C (p.Phe1412Ser)	SCN8A (F1412S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13 +5 more	GConflicting classifications of pathogenicity
Select item 217635	NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)	CEP290 (Q1628*)	Single nucleotide variant (nonsense)	Blindness +13 more	GPathogenic
Select item 286074	NM_025114.4(CEP290):c.1512_1515del (p.Arg504fs)	CEP290 (R504fs)	Microsatellite (frameshift variant)	Nephronophthisis +10 more	GPathogenic/Likely pathogenic
Select item 40513	NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp)	PTPN11 (E139D +1 more)	Single nucleotide variant (missense variant)	Noonan syndrome	GPathogenic FDA Recognized database
Select item 523246	GRCh37/hg19 12p13.33-13.32(chr12:3288857-4004582)	PARP11, CRACR2A +2 more	Copy number loss	Global developmental delay +1 more	GUncertain significance
Select item 523247	GRCh37/hg19 13q33.1(chr13:101849920-101885422)	NALCN	Copy number loss	Generalized hypotonia +1 more	GUncertain significance
Select item 374024	NM_000153.4(GALC):c.850G>A (p.Gly284Ser)	GALC (G284S +2 more)	Single nucleotide variant (missense variant)	Developmental regression +20 more	GPathogenic/Likely pathogenic
Select item 374023	NM_000153.4(GALC):c.196G>A (p.Ala66Thr)	GALC (A66T +1 more)	Single nucleotide variant (missense variant +1 more)	Galactosylceramide beta-galactosidase deficiency +19 more	GLikely pathogenic
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 374190	NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)	DYNC1H1 (R2332C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +7 more	GPathogenic/Likely pathogenic
Select item 523440	NM_001376.5(DYNC1H1):c.9930G>A (p.Met3310Ile)	DYNC1H1 (M3310I)	Single nucleotide variant (missense variant)	Microcephaly +4 more	GUncertain significance
Select item 373923	NM_130839.5(UBE3A):c.2272G>A (p.Gly758Arg)	SNHG14, UBE3A (G738R +6 more)	Single nucleotide variant (missense variant +2 more)	EEG abnormality +5 more	GPathogenic
Select item 13505	NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)	POLG, POLGARF (P587L)	Single nucleotide variant (missense variant)	Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis +14 more	GConflicting classifications of pathogenicity
Select item 13503	NM_002693.3(POLG):c.752C>T (p.Thr251Ile)	POLG, POLGARF (T251I)	Single nucleotide variant (missense variant)	POLG-Related Spectrum Disorders +15 more	GConflicting classifications of pathogenicity
Select item 523248	GRCh37/hg19 15q11.2(chr15:22503621-23091180)	CYFIP1, GOLGA6L1 +3 more	Copy number loss	Global developmental delay	GPathogenic
Select item 2538	NM_000243.3(MEFV):c.2080A>G (p.Met694Val)	LOC126862264, MEFV	Single nucleotide variant (missense variant +1 more)	Macrocephaly +24 more	GPathogenic/Likely pathogenic
Select item 373943	NM_004380.3(CREBBP):c.6244C>T (p.Gln2082Ter)	CREBBP (Q2082* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 39787	NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)	EARS2 (R108W)	Single nucleotide variant (missense variant +1 more)	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome +12 more	GPathogenic/Likely pathogenic
Select item 374089	NM_145239.3(PRRT2):c.674A>G (p.Glu225Gly)	MVP-DT, PRRT2 (E225G)	Single nucleotide variant (missense variant)	Infantile convulsions and choreoathetosis +4 more	GUncertain significance
Select item 522263	NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)	ANKRD11 (P2307S)	Single nucleotide variant (missense variant)	not provided +8 more	GConflicting classifications of pathogenicity
Select item 279678	NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)	ANKRD11 (K635fs)	Microsatellite (frameshift variant)	Neurodevelopmental delay +11 more	GPathogenic/Likely pathogenic
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 374152	NM_004247.4(EFTUD2):c.2047A>T (p.Asn683Tyr)	EFTUD2 (N683Y +2 more)	Single nucleotide variant (missense variant)	Seizure +1 more	GLikely pathogenic
Select item 217677	NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)	MKS1 (S372del +1 more)	Deletion (inframe_deletion)	Bardet-Biedl syndrome 13 +9 more	GPathogenic/Likely pathogenic
Select item 2120	NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)	TSEN54 (A307S)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 4 +14 more	GPathogenic/Likely pathogenic
Select item 523261	GRCh37/hg19 17p13.3(chr17:2339561-2826073)	RAP1GAP2, CLUH +2 more	Copy number loss	Strabismus +6 more	GPathogenic
Select item 523259	GRCh37/hg19 17p12(chr17:14215739-15422582)	CDRT4, HS3ST3B1 +4 more	Copy number loss	Attention deficit hyperactivity disorder +3 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 374031	NM_001083962.2(TCF4):c.1719_1722dup (p.Ala575fs)	TCF4 (A359fs +21 more)	Duplication (frameshift variant)	Pitt-Hopkins syndrome +2 more	GPathogenic
Select item 374054	NM_001083962.2(TCF4):c.500-1G>A	TCF4	Single nucleotide variant (splice acceptor variant)	Pitt-Hopkins syndrome +7 more	GPathogenic
Select item 374051	NM_003072.5(SMARCA4):c.1358C>T (p.Thr453Ile)	SMARCA4 (T453I)	Single nucleotide variant (missense variant +1 more)	Rhabdoid tumor predisposition syndrome 2 +6 more	GConflicting classifications of pathogenicity
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 68432	NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)	CACNA1A (R1664Q +3 more)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 37108	NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)	ATP1A3 (E815K +2 more)	Single nucleotide variant (missense variant)	Dystonia 12 +13 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 30986	NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)	ASXL1 (R404* +1 more)	Single nucleotide variant (nonsense)	dystrophia +14 more	GPathogenic
Select item 279598	NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)	ADNP (R730*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 374013	NM_001429.4(EP300):c.1619A>G (p.Gln540Arg)	EP300 (Q540R)	Single nucleotide variant (missense variant)	Facial grimacing +4 more	GLikely benign
Select item 374009	NM_001098.3(ACO2):c.75C>T (p.Val25=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +5 more	GUncertain significance
Select item 374008	NM_001098.3(ACO2):c.76C>T (p.Leu26=)	ACO2	Single nucleotide variant (synonymous variant)	Optic atrophy 9 +6 more	GConflicting classifications of pathogenicity
Select item 374007	NM_001098.3(ACO2):c.1395G>C (p.Lys465Asn)	ACO2 (K465N)	Single nucleotide variant (missense variant)	Brain atrophy +4 more	GUncertain significance
Select item 374006	NM_001098.3(ACO2):c.1397A>C (p.Asn466Thr)	ACO2 (N466T)	Single nucleotide variant (missense variant)	Brain atrophy +4 more	GUncertain significance
Select item 523550	NM_001372044.2(SHANK3):c.3302C>T (p.Ser1101Phe)	SHANK3 (S1026F +1 more)	Single nucleotide variant (missense variant)	Macrocephaly +4 more	GUncertain significance
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 158186	NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)	CDKL5 (Q208*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 2 +8 more	GPathogenic
Select item 374040	NM_004586.3(RPS6KA3):c.1959+2dup	RPS6KA3	Duplication (splice donor variant)	Global developmental delay +1 more	GConflicting classifications of pathogenicity
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 523425	NM_001205019.2(GK):c.*1A>G	GK	Single nucleotide variant (3 prime UTR variant)	Global developmental delay +2 more	GUncertain significance

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