ClinVar (all) for Orgtrack (Select 505818) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1701083	NM_006009.4(TUBA1A):c.848A>G (p.His283Arg)	TUBA1A (H248R +1 more)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1701082	NM_006593.4(TBR1):c.581C>T (p.Ser194Phe)	TBR1 (S194F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1701081	NM_003070.5(SMARCA2):c.3078G>C (p.Glu1026Asp)	SMARCA2 (E1026D +1 more)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	GUncertain significance
Select item 1701080	NM_006922.4(SCN3A):c.4318G>A (p.Glu1440Lys)	SCN3A (E1391K +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701079	NM_006922.4(SCN3A):c.2264T>C (p.Leu755Ser)	SCN3A (L706S +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701078	NM_001040142.2(SCN2A):c.2954C>T (p.Ser985Phe)	SCN2A (S985F)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701077	NM_001165963.4(SCN1A):c.1439C>G (p.Ser480Ter)	SCN1A (S479* +1 more)	Single nucleotide variant (nonsense +2 more)	Seizure	GPathogenic
Select item 1701076	NM_001367721.1(CASK):c.1847A>G (p.Tyr616Cys)	CASK (Y587C +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701075	NM_001165963.4(SCN1A):c.2226del (p.Asn743fs)	SCN1A (N714fs +4 more)	Deletion (frameshift variant +2 more)	Seizure	GPathogenic
Select item 1701074	NM_001165963.4(SCN1A):c.1157dup (p.Asn386fs)	SCN1A (N386fs)	Duplication (frameshift variant +2 more)	Seizure	GPathogenic
Select item 1701073	NM_001165963.4(SCN1A):c.2868G>T (p.Met956Ile)	SCN1A (M142I +5 more)	Single nucleotide variant (missense variant +1 more)	Seizure	GLikely pathogenic
Select item 1701072	NM_006978.3(RNF113A):c.861del (p.Gln288fs)	RNF113A (Q288fs)	Deletion (frameshift variant)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701071	NM_005045.4(RELN):c.4067A>C (p.Glu1356Ala)	RELN (E1356A)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701070	NM_001673.5(ASNS):c.486A>C (p.Lys162Asn)	ASNS, CZ1P-ASNS (K141N +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701069	NM_000944.5(PPP3CA):c.760del (p.Arg254fs)	PPP3CA (R254fs)	Deletion (frameshift variant)	Seizure	GUncertain significance
Select item 1701068	NM_001184880.2(PCDH19):c.2521C>T (p.Arg841Cys)	LOC125467768, PCDH19 (R794C +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1701067	NM_001673.5(ASNS):c.1352C>G (p.Thr451Arg)	ASNS, CZ1P-ASNS (T368R +2 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701066	NM_000430.4(PAFAH1B1):c.521_523dup (p.Ile174_Lys175insIle)	PAFAH1B1	Duplication (inframe_insertion)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701065	NM_002547.3(OPHN1):c.1045C>T (p.Gln349Ter)	OPHN1 (Q349*)	Single nucleotide variant (nonsense)	Seizure	GPathogenic
Select item 1701064	NM_022455.5(NSD1):c.7952CTG[1] (p.Ala2652del)	NSD1 (A2383del +6 more)	Microsatellite (inframe_indel +1 more)	Abnormal cerebral morphology	GUncertain significance
Select item 1701063	NM_005654.6(NR2F1):c.278C>T (p.Ser93Leu)	NR2F1, NR2F1-AS1 (S93L)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1701062	NM_001144967.3(NEDD4L):c.1402C>T (p.Arg468Trp)	NEDD4L (R327W +6 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1701061	NM_001673.5(ASNS):c.1321-1G>C	ASNS, CZ1P-ASNS	Single nucleotide variant (splice acceptor variant)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701060	NM_001098511.3(KIF2A):c.1444A>C (p.Asn482His)	KIF2A (N455H +2 more)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701059	NM_004519.4(KCNQ3):c.509A>G (p.Glu170Gly)	KCNQ3 (E170G +1 more)	Single nucleotide variant (missense variant)	Seizure	GPathogenic
Select item 1701058	NM_172107.4(KCNQ2):c.2363T>C (p.Ile788Thr)	KCNQ2 (I757T +4 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701057	NM_001112741.2(KCNC1):c.1595T>A (p.Leu532Gln)	KCNC1 (L532Q)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701056	NM_021072.4(HCN1):c.1618+2T>A	HCN1	Single nucleotide variant (splice donor variant)	Seizure	GUncertain significance
Select item 1701055	NM_021072.4(HCN1):c.1606T>G (p.Ser536Ala)	HCN1 (S536A)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701054	NM_001194.4(HCN2):c.1417C>T (p.Arg473Trp)	HCN2 (R473W)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701053	NM_000836.4(GRIN2D):c.655G>C (p.Gly219Arg)	GRIN2D (G219R)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701052	NM_007327.4(GRIN1):c.398T>G (p.Ile133Ser)	GRIN1 (I133S)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1701051	NM_198904.4(GABRG2):c.626C>A (p.Ser209Tyr)	GABRG2 (S114Y +5 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701050	NM_001099922.3(ALG13):c.1730-4A>T	ALG13	Single nucleotide variant (intron variant)	Seizure	GUncertain significance
Select item 1701049	NM_001110556.2(FLNA):c.5536del (p.Tyr1846fs)	FLNA (Y1838fs +1 more)	Deletion (frameshift variant)	Abnormal cerebral morphology	GPathogenic
Select item 1701048	NM_001110556.2(FLNA):c.7775T>G (p.Val2592Gly)	FLNA, LOC107988032 (V2584G +1 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701047	NM_001958.5(EEF1A2):c.1261C>T (p.Leu421Phe)	EEF1A2 (L421F)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701046	NM_001376.5(DYNC1H1):c.6074G>A (p.Arg2025Gln)	DYNC1H1 (R2025Q)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	GPathogenic
Select item 1701045	NM_001242896.3(DEPDC5):c.3913C>T (p.His1305Tyr)	DEPDC5 (H1205Y +6 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral morphology	GUncertain significance
Select item 1701044	NM_001242896.3(DEPDC5):c.3264+1G>C	DEPDC5	Single nucleotide variant (splice donor variant)	Seizure	GLikely pathogenic
Select item 1701043	NM_001242896.3(DEPDC5):c.913A>T (p.Asn305Tyr)	DEPDC5 (N277Y +1 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral morphology	GUncertain significance
Select item 1701042	NM_001282531.3(ADNP):c.1084C>G (p.Gln362Glu)	ADNP (Q362E)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701041	NM_001356.5(DDX3X):c.578G>T (p.Gly193Val)	DDX3X (G177V +2 more)	Single nucleotide variant (missense variant +1 more)	Abnormal cerebral morphology	GUncertain significance
Select item 1701040	NM_001195553.2(DCX):c.781del (p.Gln261fs)	DCX (Q261fs +1 more)	Deletion (frameshift variant)	Abnormal cerebral morphology	GPathogenic
Select item 1701039	NM_001079872.2(CUL4B):c.1121A>G (p.Glu374Gly)	CUL4B (E196G +3 more)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701038	NM_004380.3(CREBBP):c.223C>T (p.Arg75Ter)	CREBBP (R75*)	Single nucleotide variant (nonsense)	CREBBP-related disorder +1 more	GPathogenic
Select item 1701037	NM_001845.6(COL4A1):c.359dup (p.Gly121fs)	COL4A1 (G121fs)	Duplication (frameshift variant)	Abnormal cerebral morphology	GPathogenic
Select item 1701036	NM_001845.6(COL4A1):c.1190G>A (p.Gly397Glu)	COL4A1 (G397E)	Single nucleotide variant (missense variant)	Seizure	GLikely pathogenic
Select item 1701035	NM_012479.4(YWHAG):c.225T>G (p.Asn75Lys)	YWHAG (N75K)	Single nucleotide variant (missense variant)	Seizure	GUncertain significance
Select item 1701034	NM_001083961.2(WDR62):c.829CTC[1] (p.Leu278del)	WDR62 (L278del)	Microsatellite (inframe_deletion)	Abnormal cerebral morphology	GLikely pathogenic
Select item 1701033	NM_006086.4(TUBB3):c.535G>C (p.Val179Leu)	TUBB3 (V107L +1 more)	Single nucleotide variant (missense variant)	Abnormal cerebral morphology	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 +2 more	GConflicting classifications of pathogenicity
Select item 1701031	NM_201525.4(ADGRG1):c.619_620+2del	ADGRG1	Deletion (splice donor variant +1 more)	Abnormal cerebral morphology	GPathogenic
Select item 1352898	NM_006914.4(RORB):c.515T>A (p.Met172Lys)	RORB (M172K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1349442	NM_000430.4(PAFAH1B1):c.287C>G (p.Pro96Arg)	PAFAH1B1 (P96R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1334910	NM_032539.5(SLITRK2):c.1665G>C (p.Glu555Asp)	SLITRK2 (E555D)	Single nucleotide variant (missense variant)	Intellectual disability	GUncertain significance
Select item 1334909	NM_032539.5(SLITRK2):c.628G>A (p.Glu210Lys)	SLITRK2 (E210K)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GConflicting classifications of pathogenicity
Select item 1334908	NM_032539.5(SLITRK2):c.1531G>A (p.Val511Met)	SLITRK2 (V511M)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GConflicting classifications of pathogenicity
Select item 1334907	NM_032539.5(SLITRK2):c.934A>G (p.Thr312Ala)	SLITRK2 (T312A)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334906	NM_032539.5(SLITRK2):c.221T>C (p.Leu74Ser)	SLITRK2 (L74S)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1334905	NM_032539.5(SLITRK2):c.1276C>T (p.Arg426Cys)	SLITRK2 (R426C)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334882	NM_032539.5(SLITRK2):c.1121C>G (p.Pro374Arg)	SLITRK2 (P374R)	Single nucleotide variant (missense variant)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1334881	NM_032539.5(SLITRK2):c.1381G>T (p.Glu461Ter)	SLITRK2 (E461*)	Single nucleotide variant (nonsense)	Intellectual developmental disorder, X-linked 111 +1 more	GPathogenic/Likely pathogenic
Select item 1326326	NM_172107.4(KCNQ2):c.668C>T (p.Ser223Phe)	KCNQ2 (S223F)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +2 more	GPathogenic/Likely pathogenic
Select item 1300188	NM_012199.5(AGO1):c.2389A>T (p.Ile797Phe)	AGO1 (I722F +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1300187	NM_012199.5(AGO1):c.2252A>T (p.His751Leu)	AGO1 (H676L +1 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1300186	NM_012199.5(AGO1):c.760G>A (p.Val254Ile)	AGO1, LOC129930123 (V179I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299764	NM_012199.5(AGO1):c.758G>A (p.Arg253His)	AGO1, LOC129930123 (R178H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299763	NM_012199.5(AGO1):c.595G>A (p.Gly199Ser)	AGO1 (G124S +1 more)	Single nucleotide variant (missense variant)	AGO1-related neurodevelopmental disorder +1 more	GPathogenic/Likely pathogenic
Select item 1299762	NM_012199.5(AGO1):c.569T>G (p.Leu190Arg)	AGO1 (L115R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures +1 more	GPathogenic/Likely pathogenic
Select item 1299669	NM_012199.5(AGO1):c.583G>A (p.Glu195Lys)	AGO1 (E120K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1264351	NM_007315.4(STAT1):c.884C>A (p.Thr295Lys)	STAT1 (T262K +4 more)	Single nucleotide variant (missense variant +1 more)	Chronic mucocutaneous candidiasis	GPathogenic
Select item 1251924	NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)	AGO1 (E301del +1 more)	Microsatellite (inframe_deletion)	AGO1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 1182639	NM_001069.3(TUBB2A):c.1070C>T (p.Pro357Leu)	TUBB2A (P272L +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1172840	NM_001372179.1(PABPC1L):c.1037C>T (p.Ala346Val)	PABPC1L (A346V)	Single nucleotide variant (missense variant +1 more)	Female infertility due to zona pellucida defect	GPathogenic
Select item 1164088	NM_001347721.2(DYRK1A):c.909T>A (p.Cys303Ter)	DYRK1A (C274* +2 more)	Single nucleotide variant (nonsense)	Intellectual disability	GPathogenic
Select item 1162742	NM_001347721.2(DYRK1A):c.887T>G (p.Ile296Arg)	DYRK1A (I267R +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely pathogenic
Select item 1162711	NM_001347721.2(DYRK1A):c.1006del (p.Trp336fs)	DYRK1A (W307fs +2 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1162318	NM_001347721.2(DYRK1A):c.737G>A (p.Arg246Gln)	DYRK1A (R217Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability	GBenign
Select item 1162316	NM_001347721.2(DYRK1A):c.1243del (p.His415fs)	DYRK1A (H386fs +2 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1162315	NM_001347721.2(DYRK1A):c.1951del (p.Ser651fs)	DYRK1A (S622fs +2 more)	Deletion (3 prime UTR variant +1 more)	Intellectual disability	GPathogenic
Select item 1162314	NM_001347721.2(DYRK1A):c.450del (p.Arg149_Tyr150insTer)	DYRK1A	Deletion (nonsense)	Intellectual disability	GPathogenic
Select item 1162313	NM_001347721.2(DYRK1A):c.924+1G>C	DYRK1A	Single nucleotide variant (splice donor variant)	DYRK1A-related intellectual disability syndrome	GPathogenic
Select item 1162312	NM_001347721.2(DYRK1A):c.977del (p.Gly326fs)	DYRK1A (G297fs +2 more)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1065605	NM_001349338.3(FOXP1):c.1426C>T (p.Gln476Ter)	FOXP1 (Q375* +4 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1065604	NM_001271.4(CHD2):c.4349del (p.Gly1450fs)	CHD2 (G1450fs)	Deletion (frameshift variant)	Intellectual disability	GPathogenic
Select item 1060427	NM_001165963.4(SCN1A):c.3158A>T (p.Asp1053Val)	LOC102724058, SCN1A (D1024V +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1058696	NM_001171613.2(PREPL):c.1827+5G>A	PREPL, SLC3A1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1053011	NM_021072.4(HCN1):c.809G>A (p.Arg270Gln)	HCN1 (R270Q)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1028470	NM_006009.4(TUBA1A):c.1156G>A (p.Glu386Lys)	TUBA1A (E386K +1 more)	Single nucleotide variant (missense variant)	Lissencephaly due to TUBA1A mutation	GLikely pathogenic
Select item 1021969	NM_001184880.2(PCDH19):c.1526A>G (p.Asn509Ser)	PCDH19 (N509S)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 9	GUncertain significance
Select item 1015785	NM_001040142.2(SCN2A):c.2654C>T (p.Thr885Ile)	SCN2A (T885I)	Single nucleotide variant (missense variant)	Seizures, benign familial infantile, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1012379	NM_001271.4(CHD2):c.1934C>T (p.Thr645Met)	CHD2 (T645M)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder +2 more	GPathogenic/Likely pathogenic
Select item 996332	NM_015512.5(DNAH1):c.6131del (p.Phe2044fs)	DNAH1 (F2044fs)	Deletion (frameshift variant)	Spermatogenic failure 18	GPathogenic
Select item 996331	NM_145292.4(GALNTL5):c.153dup (p.Val52fs)	GALNTL5 (V52fs)	Duplication (frameshift variant +1 more)	Male infertility	GLikely pathogenic
Select item 996214	NM_177987.3(TUBB8):c.922G>A (p.Gly308Ser)	TUBB8 (G308S)	Single nucleotide variant (missense variant)	Oocyte maturation defect 2	GPathogenic
Select item 996213	NM_001017975.6(HFM1):c.1905T>A (p.Tyr635Ter)	HFM1 (Y635*)	Single nucleotide variant (nonsense +1 more)	Premature ovarian failure 9	GPathogenic
Select item 996145	NM_152467.5(KLHL10):c.985C>T (p.Arg329Cys)	KLHL10 (R241C +1 more)	Single nucleotide variant (missense variant)	Spermatogenic failure 11	GPathogenic
Select item 988746	NM_173495.3(PTCHD1):c.638A>G (p.Tyr213Cys)	PTCHD1 (Y213C)	Single nucleotide variant (missense variant)	Autism, susceptibility to, X-linked 4 +1 more	GConflicting classifications of pathogenicity
Select item 981457	NM_004722.4(AP4M1):c.974+2dup	AP4M1	Duplication (splice donor variant)	Intellectual disability	GPathogenic

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