ClinVar (all) for Orgtrack (Select 507314) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1048568	NM_017679.5(BCAS3):c.576C>A (p.Cys192Ter)	BCAS3 (C192*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 1048567	NM_017679.5(BCAS3):c.337C>T (p.Gln113Ter)	BCAS3 (Q113*)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 993277	NM_017679.5(BCAS3):c.2425G>C (p.Gly809Arg)	BCAS3, BCAS3-AS1 (G809R +3 more)	Single nucleotide variant (missense variant)	Global developmental delay	GLikely pathogenic
Select item 993276	NM_017679.5(BCAS3):c.2029+4_2029+7del	BCAS3, BCAS3-AS1	Deletion (splice donor variant)	Global developmental delay	GLikely pathogenic
Select item 993275	NC_000017.11:g.60921178_61232194del	BCAS3, BCAS3-AS1	Deletion	Global developmental delay	GLikely pathogenic
Select item 993274	NM_017679.5(BCAS3):c.530del (p.Met177fs)	BCAS3 (M177fs)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 993273	NM_017679.5(BCAS3):c.1133del (p.Val378fs)	BCAS3 (V378fs)	Deletion (frameshift variant)	Global developmental delay	GLikely pathogenic
Select item 993272	NM_017679.5(BCAS3):c.2182C>T (p.Gln728Ter)	BCAS3, BCAS3-AS1 (Q728* +3 more)	Single nucleotide variant (nonsense)	Global developmental delay	GLikely pathogenic
Select item 993271	NM_017679.5(BCAS3):c.1684G>A (p.Gly562Arg)	BCAS3, BCAS3-AS1 (G562R +3 more)	Single nucleotide variant (missense variant)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 993270	NM_017679.5(BCAS3):c.1655C>T (p.Pro552Leu)	BCAS3, BCAS3-AS1 (P552L +3 more)	Single nucleotide variant (missense variant)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 993269	NM_017679.5(BCAS3):c.1457C>G (p.Ser486Ter)	BCAS3 (S486*)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 993268	NM_017679.5(BCAS3):c.726T>G (p.Tyr242Ter)	BCAS3 (Y242*)	Single nucleotide variant (nonsense)	Global developmental delay +1 more	GPathogenic/Likely pathogenic
Select item 993267	NM_017679.5(BCAS3):c.73C>T (p.Gln25Ter)	BCAS3 (Q25*)	Single nucleotide variant (nonsense)	Hengel-Maroofian-Schols syndrome +1 more	GPathogenic/Likely pathogenic
Select item 830329	NM_022834.5(VWA1):c.186_209del (p.Pro63_Ala70del)	VWA1	Deletion (inframe_deletion +1 more)	Neuromuscular disease	GLikely pathogenic
Select item 830328	NM_022834.5(VWA1):c.879del (p.Arg293fs)	VWA1 (R293fs)	Deletion (frameshift variant +1 more)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GPathogenic/Likely pathogenic
Select item 830327	NM_022834.5(VWA1):c.62_71dup (p.Gly25fs)	VWA1 (G25fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +2 more	GPathogenic/Likely pathogenic
Select item 830326	NM_022834.5(VWA1):c.94C>T (p.Arg32Ter)	VWA1 (R32*)	Single nucleotide variant (nonsense +1 more)	VWA1-related disorder	GLikely pathogenic
Select item 830325	NM_022834.5(VWA1):c.252del (p.Glu85fs)	VWA1 (E85fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 830324	NM_022834.5(VWA1):c.62_71del (p.Gly21fs)	VWA1 (G21fs)	Microsatellite (frameshift variant)	Neuronopathy, distal hereditary motor, autosomal recessive 7 +1 more	GPathogenic/Likely pathogenic
Select item 810662	NM_003359.4(UGDH):c.41A>G (p.Tyr14Cys)	UGDH (Y14C)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +2 more	GConflicting classifications of pathogenicity
Select item 810661	NM_003359.4(UGDH):c.70G>A (p.Ala24Thr)	UGDH (A24T)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810660	NM_003359.4(UGDH):c.125T>C (p.Ile42Thr)	UGDH (I42T)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810659	NM_003359.4(UGDH):c.131C>T (p.Ala44Val)	UGDH (A44V)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GLikely pathogenic
Select item 810658	NM_003359.4(UGDH):c.193C>T (p.Arg65Ter)	UGDH (R65*)	Single nucleotide variant (nonsense +1 more)	Developmental and epileptic encephalopathy, 84	GPathogenic
Select item 810657	NM_003359.4(UGDH):c.214T>G (p.Ser72Ala)	UGDH (S72A)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810656	NM_003359.4(UGDH):c.244G>A (p.Ala82Thr)	UGDH (A82T)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810655	NM_003359.4(UGDH):c.374T>C (p.Ile125Thr)	UGDH (I125T +1 more)	Single nucleotide variant (missense variant +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810654	NM_003359.4(UGDH):c.463C>T (p.Gln155Ter)	UGDH (Q155* +1 more)	Single nucleotide variant (nonsense +1 more)	Epileptic encephalopathy	GLikely pathogenic
Select item 810653	NM_003359.4(UGDH):c.523C>G (p.Pro175Ala)	UGDH (P175A +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810652	NM_003359.4(UGDH):c.651G>C (p.Glu217Asp)	UGDH (E217D +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810651	NM_003359.4(UGDH):c.764T>C (p.Ile255Thr)	UGDH (I158T +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810650	NM_003359.4(UGDH):c.811G>C (p.Gly271Arg)	UGDH (G271R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810649	NM_003359.4(UGDH):c.907G>A (p.Val303Ile)	UGDH (V206I +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810648	NM_003359.4(UGDH):c.916A>G (p.Met306Val)	UGDH (M306V +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810647	NM_003359.4(UGDH):c.1068T>G (p.Tyr356Ter)	UGDH (Y259* +2 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GLikely pathogenic
Select item 810646	NM_003359.4(UGDH):c.1100A>G (p.Tyr367Cys)	UGDH (Y367C +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84 +1 more	GPathogenic/Likely pathogenic
Select item 810645	NM_003359.4(UGDH):c.1177C>T (p.Arg393Trp)	UGDH (R393W +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GLikely pathogenic
Select item 810644	NM_003359.4(UGDH):c.1228G>T (p.Ala410Ser)	UGDH (A313S +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810643	NM_003359.4(UGDH):c.1324C>T (p.Arg442Trp)	UGDH (R375W +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810642	NM_003359.4(UGDH):c.1328G>A (p.Arg443His)	UGDH (R346H +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810641	NM_003359.4(UGDH):c.1346A>G (p.His449Arg)	UGDH (H382R +2 more)	Single nucleotide variant (missense variant)	Epileptic encephalopathy	GLikely pathogenic
Select item 810640	NM_207346.3(TSEN54):c.341C>T (p.Pro114Leu)	TSEN54 (P114L)	Single nucleotide variant (missense variant)	Pontoneocerebellar hypoplasia	GUncertain significance
Select item 810639	NM_203446.3(SYNJ1):c.1157G>T (p.Cys386Phe)	SYNJ1 (C386F +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53	GUncertain significance
Select item 810638	NM_016955.4(SEPSECS):c.181A>G (p.Met61Val)	SEPSECS (M61V)	Single nucleotide variant (missense variant)	Pontocerebellar hypoplasia type 2D	GUncertain significance
Select item 810637	NM_181882.3(PRX):c.27+1G>T	PRX	Single nucleotide variant (splice donor variant)	PRX-related disorder	GPathogenic
Select item 810636	NM_004562.3(PRKN):c.101del (p.Gln34fs)	PRKN (Q34fs)	Deletion (frameshift variant)	Autosomal recessive juvenile Parkinson disease 2	GPathogenic
Select item 810635	NM_000466.3(PEX1):c.403C>T (p.Arg135Ter)	PEX1 (R135*)	Single nucleotide variant (nonsense +1 more)	Peroxisome biogenesis disorder 1A (Zellweger) +3 more	GPathogenic
Select item 810634	NM_002529.4(NTRK1):c.2170G>A (p.Gly724Ser)	NTRK1 (G688S +2 more)	Single nucleotide variant (missense variant)	Hereditary insensitivity to pain with anhidrosis	GPathogenic
Select item 810633	NM_001351169.2(NT5C2):c.430C>T (p.Arg144Ter)	NT5C2 (R113* +3 more)	Single nucleotide variant (nonsense +2 more)	Hereditary spastic paraplegia 45	GPathogenic
Select item 810632	NM_014874.4(MFN2):c.1963A>G (p.Lys655Glu)	MFN2 (K655E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;	GUncertain significance
Select item 810631	NM_020533.3(MCOLN1):c.230C>T (p.Thr77Met)	MCOLN1 (T77M)	Single nucleotide variant (missense variant)	Mucolipidosis type IV	GUncertain significance
Select item 810630	NM_001122769.3(LCA5):c.1062_1068del (p.Cys353_Tyr354insTer)	LCA5	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 810629	NM_004523.4(KIF11):c.381G>A (p.Trp127Ter)	KIF11 (W127*)	Single nucleotide variant (nonsense)	Syndromic retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 810628	NM_000156.6(GAMT):c.491del (p.Gly164fs)	GAMT (G164fs)	Deletion (frameshift variant)	Deficiency of guanidinoacetate methyltransferase	GPathogenicFDA Recognized database
Select item 810627	NM_001368809.2(AMPD2):c.333del (p.Gln112fs)	AMPD2 (Q112fs +3 more)	Deletion (frameshift variant)	Pontocerebellar hypoplasia type 9	GPathogenic
Select item 804461	NM_016156.6(MTMR2):c.766_767del (p.Lys256fs)	MTMR2 (K184fs +1 more)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease type 4B1 +1 more	GPathogenic/Likely pathogenic
Select item 804392	NM_020919.4(ALS2):c.601C>T (p.Arg201Ter)	ALS2 (R201*)	Single nucleotide variant (nonsense)	Amyotrophic lateral sclerosis type 2, juvenile +2 more	GPathogenic/Likely pathogenic
Select item 689508	NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)	PAX7 (R74*)	Single nucleotide variant (nonsense)	Alveolar rhabdomyosarcoma +1 more	GLikely pathogenic
Select item 598963	NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter)	TMCO1 (R206* +2 more)	Single nucleotide variant (nonsense +1 more)	See cases +21 more	GPathogenic/Likely pathogenic
Select item 592087	NM_003359.4(UGDH):c.950G>A (p.Arg317Gln)	UGDH (R317Q +2 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 84	GPathogenic/Likely pathogenic
Select item 567983	NM_014252.4(SLC25A15):c.446del (p.Ser149fs)	SLC25A15 (S149fs)	Deletion (frameshift variant)	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	GPathogenic
Select item 560980	NM_003632.3(CNTNAP1):c.2015G>A (p.Trp672Ter)	CNTNAP1 (W672*)	Single nucleotide variant (nonsense)	Arthrogryposis, distal, type 1A	GPathogenic
Select item 551670	NM_000199.5(SGSH):c.416C>T (p.Thr139Met)	SGSH (T139M)	Single nucleotide variant (missense variant +1 more)	Mucopolysaccharidosis, MPS-III-A +1 more	GConflicting classifications of pathogenicity
Select item 522105	NM_133443.4(GPT2):c.70C>T (p.Gln24Ter)	GPT2 (Q24*)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 449556	NM_007055.4(POLR3A):c.1771-7C>G	POLR3A	Single nucleotide variant (intron variant)	Neonatal pseudo-hydrocephalic progeroid syndrome +4 more	GPathogenic/Likely pathogenic
Select item 425428	NM_000083.3(CLCN1):c.1012C>T (p.Arg338Ter)	CLCN1 (R338*)	Single nucleotide variant (nonsense +1 more)	Congenital myotonia, autosomal recessive form +2 more	GPathogenic/Likely pathogenic
Select item 424861	NM_020843.4(SCAPER):c.2023-2A>G	SCAPER	Single nucleotide variant (splice acceptor variant)	Intellectual developmental disorder and retinitis pigmentosa; IDDRP +2 more	GPathogenic
Select item 225768	NM_005186.4(CAPN1):c.1605+5G>A	CAPN1	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 211236	NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)	KCNQ2 (F305del)	Microsatellite (inframe_deletion)	Seizures, benign familial neonatal, 1 +6 more	GPathogenic/Likely pathogenic
Select item 189243	NM_000231.3(SGCG):c.525del (p.Phe175fs)	SGCG (F193fs)	Deletion (frameshift variant)	SGCG-related congenital myopathy +2 more	GPathogenic/Likely pathogenic
Select item 183301	NM_138422.4(ADAT3):c.430G>A (p.Val144Met)	ADAT3, SCAMP4 (V144M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 143749	NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)	MECP2 (R309W +3 more)	Single nucleotide variant (missense variant)	Rett syndrome	GPathogenicFDA Recognized database
Select item 100648	NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg)	MAF, WWOX (G372R +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 88854	NM_001256864.2(DNAJC6):c.801-2A>G	DNAJC6	Single nucleotide variant (splice acceptor variant)	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome +1 more	GPathogenic
Select item 60525	NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)	B4GALNT1 (L89fs)	Duplication (frameshift variant +1 more)	Spastic paraplegia +3 more	GPathogenic/Likely pathogenic
Select item 41315	NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)	SPG11, LOC130056973 (Q1436fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 29584	NM_001098.3(ACO2):c.336C>G (p.Ser112Arg)	ACO2 (S112R)	Single nucleotide variant (missense variant)	Infantile cerebellar-retinal degeneration	GPathogenic
Select item 4431	NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)	APTX (W279* +3 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic
Select item 2283	NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln)	LOC130007700, PRICKLE1 (R104Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic

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Items: 79