ClinVar (all) for Orgtrack (Select 506632) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3148957	NM_001394372.1(BICRA):c.1910del (p.Leu637fs)	BICRA (L637fs)	Deletion (frameshift variant)	CSS12 + schizoaffective disorder, bipolar type/adult-onset psychiatric condition	GLikely pathogenic
Select item 2692424	NM_015030.2(FRYL):c.8079_8080del (p.Gln2693fs)	FRYL (Q2693fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692423	NM_015030.2(FRYL):c.5474_5475del (p.Tyr1825fs)	FRYL (Y1825fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692422	NM_015030.2(FRYL):c.4724del (p.Cys1575fs)	FRYL (C1575fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692421	NM_015030.2(FRYL):c.4663C>T (p.Arg1555Ter)	FRYL (R1555*)	Single nucleotide variant (nonsense)	FRYL-related developmental disorder	GUncertain significance
Select item 2692420	NM_015030.2(FRYL):c.2210_2211dup (p.Ser738Ter)	FRYL (S738*)	Duplication (nonsense)	FRYL-related developmental disorder	GUncertain significance
Select item 2692419	NM_015030.2(FRYL):c.1987-1G>A	FRYL	Single nucleotide variant (splice acceptor variant)	not specified +1 more	GUncertain significance
Select item 2692418	NM_015030.2(FRYL):c.1855_1858del (p.Val619fs)	FRYL (V619fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692417	NM_015030.2(FRYL):c.8852A>G (p.Tyr2951Cys)	FRYL (Y2951C)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692416	NM_015030.2(FRYL):c.7190G>T (p.Ser2397Ile)	FRYL (S2397I)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692415	NM_015030.2(FRYL):c.6884T>C (p.Phe2295Ser)	FRYL (F2295S)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692414	NM_015030.2(FRYL):c.4882T>C (p.Phe1628Leu)	FRYL (F1628L)	Single nucleotide variant (missense variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2692413	NM_015030.2(FRYL):c.1129_1130del (p.Val377fs)	FRYL (V377fs)	Deletion (frameshift variant)	FRYL-related developmental disorder	GUncertain significance
Select item 2664259	NM_017934.7(PHIP):c.1525A>T (p.Ile509Phe)	PHIP (I509F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664258	NM_017934.7(PHIP):c.1523dup (p.Met508fs)	PHIP (M508fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664257	NM_017934.7(PHIP):c.1520A>G (p.Asn507Ser)	PHIP (N507S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome +1 more	GLikely pathogenic
Select item 2664256	NM_017934.7(PHIP):c.1452_1458del (p.Ala485fs)	PHIP (A485fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664255	NM_017934.7(PHIP):c.1451C>T (p.Ser484Phe)	PHIP (S484F)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664254	NM_017934.7(PHIP):c.1283C>G (p.Thr428Ser)	PHIP (T428S)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664253	NM_017934.7(PHIP):c.820C>T (p.Gln274Ter)	PHIP (Q274*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664252	NM_017934.7(PHIP):c.4979del (p.Gly1660fs)	IRAK1BP1, PHIP (G1660fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664251	NM_017934.7(PHIP):c.4102G>T (p.Glu1368Ter)	IRAK1BP1, PHIP (E1368*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664250	NM_017934.7(PHIP):c.3952dup (p.Ile1318fs)	IRAK1BP1, PHIP (I1318fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664249	NM_017934.7(PHIP):c.439+5G>T	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664248	NM_017934.7(PHIP):c.3902dup (p.Asp1302fs)	IRAK1BP1, PHIP (D1302fs)	Duplication (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664247	NM_017934.7(PHIP):c.3499del (p.Arg1167fs)	IRAK1BP1, PHIP (R1167fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664246	NM_017934.7(PHIP):c.3394G>T (p.Glu1132Ter)	IRAK1BP1, PHIP (E1132*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664245	NM_017934.7(PHIP):c.3216_3227del (p.Phe1072_Ile1076delinsLeu)	IRAK1BP1, PHIP	Deletion (inframe_indel)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664244	NM_017934.7(PHIP):c.2978G>A (p.Trp993Ter)	IRAK1BP1, PHIP (W993*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664243	NM_017934.7(PHIP):c.2890-2A>G	IRAK1BP1, PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664242	NM_017934.7(PHIP):c.2306_2309del (p.Pro769fs)	PHIP (P769fs)	Deletion (frameshift variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664241	NM_017934.7(PHIP):c.2216G>A (p.Trp739Ter)	PHIP (W739*)	Single nucleotide variant (nonsense)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2664240	NM_017934.7(PHIP):c.1654-2A>C	PHIP	Single nucleotide variant (splice acceptor variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GPathogenic
Select item 2664239	NM_017934.7(PHIP):c.41-7C>A	PHIP	Single nucleotide variant (intron variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 2576593	NM_015030.2(FRYL):c.1224del (p.Lys409fs)	FRYL (K409fs)	Deletion (frameshift variant)	FRYL-associated neurodevelopmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 2289180	NM_015030.2(FRYL):c.328C>T (p.Arg110Cys)	FRYL (R110C)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1698719	NM_001039396.2(MPEG1):c.445C>T (p.Arg149Ter)	MPEG1 (R149*)	Single nucleotide variant (nonsense)	Immunodeficiency 77	GUncertain significance
Select item 1695372	NM_017934.7(PHIP):c.1463A>T (p.Asp488Val)	PHIP (D488V)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1695371	NM_017934.7(PHIP):c.2888A>G (p.Glu963Gly)	IRAK1BP1, PHIP (E963G)	Single nucleotide variant (missense variant)	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	GLikely pathogenic
Select item 1679533	NM_001127222.2(CACNA1A):c.5015dup (p.Gln1673fs)	CACNA1A (Q1673fs +3 more)	Duplication (frameshift variant)	Developmental and epileptic encephalopathy, 52 +3 more	GPathogenic
Select item 1679532	NM_001127222.2(CACNA1A):c.5120T>C (p.Ile1707Thr)	CACNA1A (I1707T +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679531	NM_001127222.2(CACNA1A):c.652T>C (p.Ser218Pro)	CACNA1A (S218P)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679530	NM_001127222.2(CACNA1A):c.1850T>C (p.Leu617Ser)	CACNA1A (L617S +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679529	NM_001127222.2(CACNA1A):c.2017_2034del (p.Met673_Lys678del)	CACNA1A	Deletion (inframe_deletion)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679528	NM_001127222.2(CACNA1A):c.2099G>A (p.Gly700Glu)	CACNA1A (G700E +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679527	NM_001127222.2(CACNA1A):c.2137G>A (p.Val713Met)	CACNA1A (V713M +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +4 more	GPathogenic/Likely pathogenic
Select item 1679526	NM_001127222.2(CACNA1A):c.3948C>A (p.Asp1316Glu)	CACNA1A, LOC126862865 (D1316E +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679525	NM_001127222.2(CACNA1A):c.5417T>C (p.Val1806Ala)	CACNA1A (V1806A +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +3 more	GLikely pathogenic
Select item 1679524	NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro)	CACNA1A (L1344P +2 more)	Single nucleotide variant (missense variant)	CACNA1A-associated disorder +4 more	GPathogenic/Likely pathogenic
Select item 1679523	NM_001127222.2(CACNA1A):c.4519G>A (p.Ala1507Thr)	CACNA1A (A1507T +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 52 +4 more	GPathogenic
Select item 1441063	NM_001127222.2(CACNA1A):c.2311A>T (p.Lys771Ter)	CACNA1A (K771* +2 more)	Single nucleotide variant (nonsense)	Migraine, familial hemiplegic, 1 +4 more	GPathogenic
Select item 1421109	NM_001127222.2(CACNA1A):c.5422G>A (p.Val1808Ile)	CACNA1A (V1811I +3 more)	Single nucleotide variant (missense variant)	Episodic ataxia type 2 +4 more	GPathogenic/Likely pathogenic
Select item 1398258	NM_001127222.2(CACNA1A):c.841del (p.Cys281fs)	CACNA1A (C281fs)	Deletion (frameshift variant)	Spinocerebellar ataxia type 6 +4 more	GPathogenic
Select item 1341467	NM_001321120.2(TBX4):c.1354A>G (p.Met452Val)	TBX4 (M451V +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341466	NM_001321120.2(TBX4):c.-3-581G>A	TBX4	Single nucleotide variant (intron variant +1 more)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341465	NM_001321120.2(TBX4):c.229T>C (p.Trp77Arg)	TBX4 (W77R)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341464	NM_001321120.2(TBX4):c.677C>A (p.Ser226Tyr)	TBX4 (S226Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341463	NM_001321120.2(TBX4):c.916G>T (p.Glu306Ter)	TBX4 (E306*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341462	NM_001321120.2(TBX4):c.167C>T (p.Ala56Val)	TBX4 (A56V)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341461	NM_001321120.2(TBX4):c.401G>C (p.Trp134Ser)	TBX4 (W134S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341460	NM_001321120.2(TBX4):c.432G>T (p.Met144Ile)	TBX4 (M144I)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341459	NM_001321120.2(TBX4):c.1461dup (p.Pro488fs)	TBX4 (P487fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341458	NM_001321120.2(TBX4):c.153_181del (p.Val54fs)	TBX4 (V54fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341457	NM_001321120.2(TBX4):c.143dup (p.Pro50fs)	TBX4 (P50fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341456	NM_001321120.2(TBX4):c.1420_1423dup (p.Tyr475fs)	TBX4 (Y474fs +1 more)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341455	NM_001321120.2(TBX4):c.1122C>A (p.Tyr374Ter)	TBX4 (Y373* +1 more)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341454	NM_001321120.2(TBX4):c.1148A>C (p.Tyr383Ser)	TBX4 (Y382S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341453	NM_001321120.2(TBX4):c.1021G>C (p.Ala341Pro)	TBX4 (A341P +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341452	NM_001321120.2(TBX4):c.985G>T (p.Asp329Tyr)	TBX4 (D329Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GPathogenic
Select item 1341451	NM_001321120.2(TBX4):c.809T>G (p.Ile270Ser)	TBX4 (I270S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341450	NM_001321120.2(TBX4):c.789del (p.Ser264fs)	TBX4 (S264fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341449	NM_001321120.2(TBX4):c.782G>A (p.Arg261Gln)	TBX4 (R261Q)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341448	NM_001321120.2(TBX4):c.571_576del (p.Lys191_Tyr192del)	TBX4	Deletion (inframe_deletion)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341447	NM_001321120.2(TBX4):c.561_570dup (p.Lys191fs)	TBX4 (K191fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341446	NM_001321120.2(TBX4):c.529C>T (p.His177Tyr)	TBX4 (H177Y)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341445	NM_001321120.2(TBX4):c.748C>T (p.Arg250Trp)	TBX4 (R250W)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1341444	NM_001321120.2(TBX4):c.455C>T (p.Pro152Leu)	TBX4 (P152L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1341443	NM_001321120.2(TBX4):c.299A>G (p.Tyr100Cys)	TBX4 (Y100C)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341442	NM_001321120.2(TBX4):c.293C>T (p.Pro98Leu)	TBX4 (P98L)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	GUncertain significance
Select item 1341441	NM_001321120.2(TBX4):c.210dup (p.Leu71fs)	TBX4 (L71fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1 +1 more	GPathogenic/Likely pathogenic
Select item 1341440	NM_001321120.2(TBX4):c.179_180dup (p.Glu61fs)	TBX4 (E61fs)	Microsatellite (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341439	NM_001321120.2(TBX4):c.379T>A (p.Tyr127Asn)	TBX4 (Y127N)	Single nucleotide variant (missense variant)	Autosomal recessive amelia	GPathogenic
Select item 1341438	NM_001321120.2(TBX4):c.316G>A (p.Gly106Ser)	TBX4 (G106S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1 +1 more	GLikely pathogenic
Select item 1341437	NM_001321120.2(TBX4):c.338A>G (p.Tyr113Cys)	TBX4 (Y113C)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	Gnot provided
Select item 1341436	NM_001321120.2(TBX4):c.146del (p.Gly49fs)	TBX4 (G49fs)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341435	NM_001321120.2(TBX4):c.847dup (p.Gln283fs)	TBX4 (Q283fs)	Duplication (frameshift variant)	Pulmonary hypertension, primary, 1	GLikely pathogenic
Select item 1341434	NM_001321120.2(TBX4):c.1201G>A (p.Glu401Lys)	TBX4 (E400K +1 more)	Single nucleotide variant (missense variant)	Primary pulmonary hypoplasia	Gnot provided
Select item 1341433	NM_001321120.2(TBX4):c.524_527del (p.Asn175fs)	TBX4 (N175fs)	Microsatellite (frameshift variant)	Primary pulmonary hypoplasia	Gnot provided
Select item 1341432	NM_001321120.2(TBX4):c.1150T>C (p.Cys384Arg)	TBX4 (C383R +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341431	NM_001321120.2(TBX4):c.1345G>A (p.Ala449Thr)	TBX4 (A448T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1341430	NM_001321120.2(TBX4):c.1167_1168del (p.Glu391fs)	TBX4 (E390fs +1 more)	Deletion (frameshift variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341429	NM_001321120.2(TBX4):c.1106G>A (p.Arg369His)	TBX4 (R368H +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341428	NM_001321120.2(TBX4):c.1027G>T (p.Gly343Cys)	TBX4 (G342C +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341427	NM_001321120.2(TBX4):c.287T>A (p.Met96Lys)	TBX4 (M96K)	Single nucleotide variant (missense variant)	Coxopodopatellar syndrome	Gnot provided
Select item 1341426	NM_001321120.2(TBX4):c.538C>T (p.Pro180Ser)	TBX4 (P180S)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341425	NM_001321120.2(TBX4):c.64G>T (p.Gly22Ter)	TBX4 (G22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1341424	NM_001321120.2(TBX4):c.1546G>A (p.Glu516Lys)	TBX4 (E515K +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341423	NM_001321120.2(TBX4):c.1277C>A (p.Pro426Gln)	TBX4 (P425Q +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341422	NM_001321120.2(TBX4):c.1186T>C (p.Ser396Pro)	TBX4 (S395P +1 more)	Single nucleotide variant (missense variant)	Pulmonary hypertension, primary, 1	Gnot provided
Select item 1341421	NM_001321120.2(TBX4):c.1012A>T (p.Lys338Ter)	TBX4 (K338*)	Single nucleotide variant (nonsense)	Pulmonary hypertension, primary, 1	Gnot provided

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