ClinVar (all) for Orgtrack (Select 507610) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2505371	NM_001142864.4(PIEZO1):c.3198T>A (p.Asp1066Glu)	PIEZO1 (D1066E +1 more)	Single nucleotide variant (missense variant)	Hemolytic anemia	GUncertain significance
Select item 2505370	NM_000175.5(GPI):c.283-2A>G	GPI	Single nucleotide variant (splice acceptor variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2505369	NM_001355436.2(SPTB):c.2163_2164dup (p.Ser722fs)	SPTB (S722fs)	Microsatellite (frameshift variant)	Hereditary spherocytosis	GLikely pathogenic
Select item 2505368	NM_000037.4(ANK1):c.1638C>A (p.Tyr546Ter)	ANK1 (Y546* +1 more)	Single nucleotide variant (nonsense)	Hereditary spherocytosis	GLikely pathogenic
Select item 2442798	NM_002351.5(SH2D1A):c.1A>G (p.Met1Val)	SH2D1A (M1V)	Single nucleotide variant (missense variant +1 more)	X-linked lymphoproliferative disease due to SH2D1A deficiency	GPathogenic
Select item 2442797	NM_000206.3(IL2RG):c.681del (p.Phe227fs)	IL2RG (F227fs)	Deletion (frameshift variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 2442796	NM_032638.5(GATA2):c.750del (p.Ser251fs)	GATA2 (S251fs)	Deletion (frameshift variant)	Monocytopenia with susceptibility to infections	GLikely pathogenic
Select item 2442795	NM_000206.3(IL2RG):c.340G>A (p.Gly114Ser)	IL2RG (G114S)	Single nucleotide variant (missense variant)	X-linked severe combined immunodeficiency	GLikely pathogenic
Select item 2442794	NM_001083116.3(PRF1):c.65del (p.Pro22fs)	PRF1 (P22fs)	Deletion (frameshift variant)	Familial hemophagocytic lymphohistiocytosis 2 +1 more	GPathogenic
Select item 2442793	NM_001127208.3(TET2):c.2188del (p.Thr730fs)	TET2, TET2-AS1 (T730fs)	Deletion (frameshift variant)	Immunodeficiency 75	GLikely pathogenic
Select item 2442792	NM_032638.5(GATA2):c.1018_1036delinsAATTT (p.Ser340fs)	GATA2 (S340fs)	Indel (frameshift variant +1 more)	Monocytopenia with susceptibility to infections	GLikely pathogenic
Select item 2439067	NM_000037.4(ANK1):c.5372A>T (p.Asn1791Ile)	ANK1 (N1629I +2 more)	Single nucleotide variant (missense variant)	Hemolytic anemia +1 more	GUncertain significance
Select item 1803089	NM_001323289.2(CDKL5):c.595T>C (p.Cys199Arg)	CDKL5 (C199R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1803088	NM_021224.6(ZNF462):c.5941C>T (p.Arg1981Ter)	ZNF462 (R1116* +1 more)	Single nucleotide variant (nonsense)	Weiss-Kruszka syndrome	GPathogenic
Select item 1803087	NM_205768.3(ZBTB18):c.1478A>G (p.His493Arg)	ZBTB18 (H484R +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 22	GLikely pathogenic
Select item 1803086	NM_130839.5(UBE3A):c.2458_2461dup (p.Lys821fs)	SNHG14, UBE3A (K384fs +8 more)	Duplication (frameshift variant +1 more)	Angelman syndrome	GPathogenic
Select item 1803085	NM_006009.4(TUBA1A):c.615C>A (p.Asp205Glu)	TUBA1A (D170E +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 1803084	NM_001323289.2(CDKL5):c.80T>C (p.Val27Ala)	CDKL5 (V27A)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +1 more	GPathogenic/Likely pathogenic
Select item 1803083	NM_006009.4(TUBA1A):c.626T>C (p.Ile209Thr)	TUBA1A (I174T +1 more)	Single nucleotide variant (missense variant)	Tubulinopathy	GLikely pathogenic
Select item 1803082	NM_000548.5(TSC2):c.1358_1361+14del	TSC2	Deletion (splice donor variant)	Tuberous sclerosis 2	GPathogenic
Select item 1803081	NM_001032221.6(STXBP1):c.1030-2A>G	STXBP1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 1803080	NM_001032221.6(STXBP1):c.748C>G (p.Gln250Glu)	STXBP1 (Q236E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803079	NM_001032221.6(STXBP1):c.620A>G (p.Asp207Gly)	STXBP1 (D193G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803078	NM_001032221.6(STXBP1):c.1657G>C (p.Ala553Pro)	STXBP1 (A517P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803077	NM_001032221.6(STXBP1):c.701A>G (p.Asp234Gly)	STXBP1 (D220G +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 1803076	NM_052874.5(STX1B):c.655_660dup (p.Met220_Leu221insAlaMet)	STX1B	Duplication (inframe_insertion)	Generalized epilepsy with febrile seizures plus, type 9	GLikely pathogenic
Select item 1803075	NM_138927.4(SON):c.5455_5456dup (p.Asp1819fs)	SON (D1819fs)	Microsatellite (frameshift variant +2 more)	ZTTK syndrome	GLikely pathogenic
Select item 1803074	NM_003042.4(SLC6A1):c.896G>T (p.Gly299Val)	SLC6A1 (G121V +2 more)	Single nucleotide variant (missense variant)	Myoclonic-astatic epilepsy	GLikely pathogenic
Select item 1803073	NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)	SLC1A2 (G282V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 41	GLikely pathogenic
Select item 1803072	NM_001145358.2(SIN3A):c.366+5T>C	SIN3A	Single nucleotide variant (intron variant)	SIN3A-related intellectual disability syndrome due to a point mutation	GLikely pathogenic
Select item 1803071	NM_001372044.2(SHANK3):c.4908C>G (p.Tyr1636Ter)	SHANK3 (Y1561* +1 more)	Single nucleotide variant (nonsense)	Phelan-McDermid syndrome	GPathogenic
Select item 1803070	NM_012309.5(SHANK2):c.5176_5177del (p.Leu1726fs)	SHANK2 (L1138fs +2 more)	Deletion (frameshift variant +1 more)	Autism, susceptibility to, 17 +1 more	GLikely pathogenic
Select item 1803069	NM_001353345.2(SETD1B):c.5860T>C (p.Cys1954Arg)	SETD1B (C1954R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder with seizures and language delay	GLikely pathogenic
Select item 1803068	NM_001330260.2(SCN8A):c.4475T>C (p.Met1492Thr)	SCN8A (M1451T +1 more)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GConflicting classifications of pathogenicity
Select item 1803067	NM_001330260.2(SCN8A):c.4871T>G (p.Ile1624Ser)	SCN8A (I1583S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803066	NM_001330260.2(SCN8A):c.778T>G (p.Phe260Val)	SCN8A (F260V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803065	NM_021098.3(CACNA1H):c.1654C>T (p.Arg552Ter)	CACNA1H (R552*)	Single nucleotide variant (nonsense)	Epilepsy, childhood absence, susceptibility to, 6	GLikely pathogenic
Select item 1803064	NM_001330260.2(SCN8A):c.2934C>A (p.Ser978Arg)	SCN8A (S978R)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 13	GLikely pathogenic
Select item 1803063	NM_001040142.2(SCN2A):c.4622T>A (p.Ile1541Asn)	SCN2A (I1541N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803062	NM_001040142.2(SCN2A):c.819C>A (p.Asn273Lys)	SCN2A (N273K)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803061	NM_001040142.2(SCN2A):c.4426T>A (p.Phe1476Ile)	SCN2A (F1476I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803060	NM_001040142.2(SCN2A):c.4499C>T (p.Ala1500Val)	SCN2A (A1500V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 11	GLikely pathogenic
Select item 1803059	NM_001040142.2(SCN2A):c.183_184insA (p.Leu62fs)	SCN2A (L62fs)	Insertion (frameshift variant)	Non-syndromic intellectual disability	GPathogenic
Select item 1803058	NM_001040142.2(SCN2A):c.3676-7C>G	SCN2A	Single nucleotide variant (intron variant)	Neurodevelopmental delay	GLikely pathogenic
Select item 1803057	NM_001165963.4(SCN1A):c.4003-4T>G	LOC102724058, SCN1A	Single nucleotide variant (intron variant)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1803056	NM_001165963.4(SCN1A):c.2671G>A (p.Gly891Arg)	SCN1A (G77R +5 more)	Single nucleotide variant (missense variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic
Select item 1803055	NM_000719.7(CACNA1C):c.770T>C (p.Val257Ala)	CACNA1C (V257A)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 1803054	NM_001165963.4(SCN1A):c.1006T>C (p.Cys336Arg)	SCN1A (C336R)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 1803053	NM_005859.5(PURA):c.227A>T (p.Asp76Val)	PURA (D76V)	Single nucleotide variant (missense variant)	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	GLikely pathogenic
Select item 1803052	NM_000314.8(PTEN):c.374A>G (p.Lys125Arg)	PTEN (K125R +1 more)	Single nucleotide variant (missense variant +1 more)	Macrocephaly-autism syndrome	GLikely pathogenic
Select item 1803051	NM_001184880.2(PCDH19):c.1728C>G (p.Tyr576Ter)	PCDH19 (Y576*)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 9	GPathogenic
Select item 1803050	NM_000430.4(PAFAH1B1):c.485G>A (p.Gly162Asp)	PAFAH1B1 (G162D)	Single nucleotide variant (missense variant)	Lissencephaly due to LIS1 mutation	GLikely pathogenic
Select item 1803049	NM_001382637.1(OTUD7A):c.1251G>A (p.Trp417Ter)	OTUD7A (W410* +1 more)	Single nucleotide variant (nonsense)	Non-syndromic intellectual disability	Gno classifications from unflagged records
Select item 1803048	NM_001378120.1(MBD5):c.1756G>A (p.Ala586Thr)	MBD5 (A586T)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 1	GLikely pathogenic
Select item 1803047	NM_001244008.2(KIF1A):c.806C>A (p.Ala269Asp)	KIF1A (A269D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 30	GLikely pathogenic
Select item 1803046	NM_172107.4(KCNQ2):c.2331dup (p.Glu778fs)	KCNQ2 (E747fs +4 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 7	GPathogenic
Select item 1803045	NM_004975.4(KCNB1):c.1106G>T (p.Trp369Leu)	KCNB1 (W369L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GPathogenic/Likely pathogenic
Select item 1803044	NM_004974.4(KCNA2):c.1130A>G (p.Tyr377Cys)	KCNA2 (Y377C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 32 +1 more	GPathogenic/Likely pathogenic
Select item 1803043	NM_004974.4(KCNA2):c.785C>T (p.Ala262Val)	KCNA2 (A262V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 32	GLikely pathogenic
Select item 1803042	NM_006766.5(KAT6A):c.4667T>C (p.Ile1556Thr)	KAT6A (I1556T)	Single nucleotide variant (missense variant)	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	GLikely pathogenic
Select item 1803041	NM_001111125.3(IQSEC2):c.3016-1G>T	IQSEC2	Single nucleotide variant (splice acceptor variant)	Intellectual disability, X-linked 1	GPathogenic
Select item 1803040	NM_001111125.3(IQSEC2):c.2295C>G (p.Asn765Lys)	IQSEC2 (N560K +1 more)	Single nucleotide variant (missense variant)	Intellectual disability, X-linked 1	GLikely pathogenic
Select item 1803039	NM_031844.3(HNRNPU):c.61A>G (p.Lys21Glu)	HNRNPU (K21E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 54	GLikely pathogenic
Select item 1803038	NM_031263.4(HNRNPK):c.1192-7_1192-3del	HNRNPK	Deletion (intron variant)	Au-Kline syndrome	GPathogenic
Select item 1803037	NM_021072.4(HCN1):c.535A>T (p.Asn179Tyr)	HCN1 (N179Y)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GLikely pathogenic
Select item 1803036	NM_152296.5(ATP1A3):c.2528C>A (p.Ala843Asp)	ATP1A3 (A843D +2 more)	Single nucleotide variant (missense variant)	Alternating hemiplegia of childhood 2	GLikely pathogenic
Select item 1803035	NM_021072.4(HCN1):c.794T>A (p.Leu265His)	HCN1 (L265H)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 24	GLikely pathogenic
Select item 1803034	NM_000836.4(GRIN2D):c.2330C>T (p.Thr777Ile)	GRIN2D (T777I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 46	GLikely pathogenic
Select item 1803033	NM_000834.5(GRIN2B):c.1237G>A (p.Glu413Lys)	GRIN2B (E413K)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 6	GLikely pathogenic
Select item 1803032	NM_198904.4(GABRG2):c.631+4A>G	GABRG2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 74	GLikely pathogenic
Select item 1803031	NM_001371727.1(GABRB2):c.929T>C (p.Met310Thr)	GABRB2 (M310T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy 92	GLikely pathogenic
Select item 1803030	NM_001127644.2(GABRA1):c.84G>T (p.Gln28His)	GABRA1 (Q28H)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely pathogenic
Select item 1803029	NM_001127644.2(GABRA1):c.839C>T (p.Pro280Leu)	GABRA1 (P280L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 19	GLikely pathogenic
Select item 1803028	NM_001127644.2(GABRA1):c.134T>C (p.Ile45Thr)	GABRA1 (I45T)	Single nucleotide variant (missense variant)	Epilepsy, idiopathic generalized, susceptibility to, 13	GLikely pathogenic
Select item 1803027	NM_001349338.3(FOXP1):c.580C>T (p.Gln194Ter)	FOXP1 (Q118* +4 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 1803026	NM_001349338.3(FOXP1):c.573dup (p.Gln192fs)	FOXP1 (Q116fs +4 more)	Duplication (frameshift variant +1 more)	Intellectual disability-severe speech delay-mild dysmorphism syndrome	GPathogenic
Select item 1803025	NM_001374828.1(ARID1B):c.3261del (p.Met1087fs)	ARID1B (M1087fs +2 more)	Deletion (frameshift variant)	Coffin-Siris syndrome 1	GPathogenic
Select item 1803024	NM_001958.5(EEF1A2):c.43C>A (p.His15Asn)	EEF1A2 (H15N)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 33	GLikely pathogenic
Select item 1803023	NM_012062.5(DNM1L):c.1247T>C (p.Leu416Pro)	DNM1L (L213P +2 more)	Single nucleotide variant (missense variant)	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1	GLikely pathogenic
Select item 1803022	NM_004408.4(DNM1):c.632A>T (p.Asp211Val)	DNM1 (D211V)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GLikely pathogenic
Select item 1803021	NM_004408.4(DNM1):c.415_423del (p.Gly139_Thr141del)	DNM1, LOC113839516	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 31A	GLikely pathogenic
Select item 1803020	NM_004408.4(DNM1):c.1943T>C (p.Met648Thr)	DNM1 (M648T)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 31A	GLikely pathogenic
Select item 1803019	NM_001845.6(COL4A1):c.3922G>A (p.Gly1308Arg)	COL4A1 (G1308R)	Single nucleotide variant (missense variant)	Brain small vessel disease 1 with or without ocular anomalies	GLikely pathogenic
Select item 1803018	NM_001271.4(CHD2):c.2605_2606delinsTT (p.Ala869Phe)	CHD2 (A869F)	Indel (missense variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1803017	NM_001271.4(CHD2):c.4137+3A>G	CHD2	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy 94	GLikely pathogenic
Select item 1803016	NM_001323289.2(CDKL5):c.146-1G>T	CDKL5	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 1803015	NM_183357.3(ADCY5):c.1235G>T (p.Arg412Leu)	ADCY5 (R412L +1 more)	Single nucleotide variant (missense variant)	Dyskinesia with orofacial involvement, autosomal dominant	GLikely pathogenic
Select item 1701032	NM_001323289.2(CDKL5):c.2684C>T (p.Pro895Leu)	CDKL5 (P895L)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2 +3 more	GConflicting classifications of pathogenicity
Select item 1683487	NM_000061.3(BTK):c.842G>A (p.Trp281Ter)	BTK (W281* +1 more)	Single nucleotide variant (nonsense)	X-linked agammaglobulinemia	GLikely pathogenic
Select item 1522436	NM_001127222.2(CACNA1A):c.4175T>C (p.Val1392Ala)	CACNA1A, LOC126862864 (V1393A +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 42 +1 more	GLikely pathogenic
Select item 1512107	NM_001032221.6(STXBP1):c.328T>C (p.Cys110Arg)	STXBP1 (C96R +1 more)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 1478168	NM_001040142.2(SCN2A):c.5636T>C (p.Met1879Thr)	SCN2A (M1879T)	Single nucleotide variant (missense variant)	Complex neurodevelopmental disorder	GLikely pathogenic FDA Recognized database
Select item 1424891	NM_001376.5(DYNC1H1):c.12419G>A (p.Arg4140His)	DYNC1H1 (R4140H)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal dominant 13 +3 more	GConflicting classifications of pathogenicity
Select item 1423525	NM_001110792.2(MECP2):c.937C>G (p.Leu313Val)	MECP2 (L208V +3 more)	Single nucleotide variant (missense variant)	Severe neonatal-onset encephalopathy with microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 1070748	NM_199242.3(UNC13D):c.1055+1G>A	UNC13D	Single nucleotide variant (splice donor variant)	Autoinflammatory syndrome +1 more	GPathogenic/Likely pathogenic
Select item 982681	NM_004975.4(KCNB1):c.1237G>A (p.Val413Ile)	KCNB1 (V413I)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 26	GConflicting classifications of pathogenicity
Select item 981654	NM_003334.4(UBA1):c.121A>C (p.Met41Leu)	LOC126863253, UBA1 (M41L)	Single nucleotide variant (missense variant)	VEXAS syndrome +2 more	GConflicting classifications of pathogenicity
Select item 972716	NM_020365.5(EIF2B3):c.503T>C (p.Leu168Pro)	EIF2B3 (L168P)	Single nucleotide variant (missense variant)	Vanishing white matter disease	GLikely pathogenic
Select item 830051	NM_001558.4(IL10RA):c.537G>A (p.Thr179=)	IL10RA	Single nucleotide variant (synonymous variant +1 more)	Inflammatory bowel disease 28	GPathogenic/Likely pathogenic
Select item 617677	NM_020365.5(EIF2B3):c.89T>C (p.Val30Ala)	EIF2B3 (V30A)	Single nucleotide variant (missense variant)	Vanishing white matter disease +1 more	GLikely pathogenic

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