ClinVar for MedGen (Select 1648373) - ClinVar

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Items: 52

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237455	NM_152743.4(BRAT1):c.1527_1533del (p.Cys510fs)	BRAT1 (C335fs +1 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GPathogenic
Select item 3237454	NM_152743.4(BRAT1):c.88G>A (p.Glu30Lys)	BRAT1 (E30K)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 3063773	NM_152743.4(BRAT1):c.457C>T (p.Gln153Ter)	BRAT1 (Q153*)	Single nucleotide variant (nonsense +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GPathogenic
Select item 2674701	NM_152743.4(BRAT1):c.398A>G (p.His133Arg)	BRAT1 (H133R)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic
Select item 2580208	NM_152743.4(BRAT1):c.1862G>C (p.Arg621Pro)	BRAT1 (R446P +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 1878610	NM_152743.4(BRAT1):c.296T>C (p.Leu99Pro)	BRAT1 (L99P)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 1806003	NM_152743.4(BRAT1):c.1771-32C>T	BRAT1 (T640I)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 1805471	NM_152743.4(BRAT1):c.458A>C (p.Gln153Pro)	BRAT1 (Q153P)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic
Select item 1802567	NM_152743.4(BRAT1):c.[638dup;803G>A]	BRAT1 (V214fs +3 more)	Duplication (frameshift variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic
Select item 1709257	NM_152743.4(BRAT1):c.2144T>A (p.Val715Glu)	BRAT1 (V540E +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 1697223	NM_152743.4(BRAT1):c.430+5G>A	BRAT1	Single nucleotide variant (intron variant)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic
Select item 1696668	NM_152743.4(BRAT1):c.1463C>G (p.Ser488Cys)	BRAT1 (S313C +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 1249397	NM_152743.4(BRAT1):c.924-14G>A	BRAT1	Single nucleotide variant (intron variant)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GBenign
Select item 1186082	NM_152743.4(BRAT1):c.*219C>A	BRAT1	Single nucleotide variant (3 prime UTR variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GLikely benign
Select item 1073760	NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)	BRAT1 (L152fs)	Microsatellite (frameshift variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +4 more	GPathogenic/Likely pathogenic
Select item 1051068	NM_152743.4(BRAT1):c.232C>T (p.Arg78Cys)	BRAT1 (R78C)	Single nucleotide variant (missense variant +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more	GUncertain significance
Select item 1006666	NM_152743.4(BRAT1):c.2334_2335del (p.Leu779fs)	BRAT1 (L839fs +2 more)	Deletion (frameshift variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more	GConflicting classifications of pathogenicity
Select item 977153	NM_001330701.2(AGTPBP1):c.2395C>T (p.Arg799Cys)	AGTPBP1 (R759C +3 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GUncertain significance
Select item 944680	NM_152743.4(BRAT1):c.1576C>T (p.Gln526Ter)	BRAT1 (Q351* +1 more)	Single nucleotide variant (nonsense +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +1 more	GPathogenic
Select item 864806	NM_152743.4(BRAT1):c.2228C>A (p.Pro743His)	BRAT1 (P803H +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 853908	NM_152743.4(BRAT1):c.750A>C (p.Arg250Ser)	BRAT1 (R75S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 665075	NM_152743.4(BRAT1):c.393_422dup (p.Gln132_Ala141dup)	BRAT1	Duplication (inframe_insertion +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 660880	NM_152743.4(BRAT1):c.59G>A (p.Arg20Lys)	BRAT1 (R20K)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GUncertain significance
Select item 651728	NM_152743.4(BRAT1):c.301G>A (p.Gly101Arg)	BRAT1 (G101R)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 651727	NM_152743.4(BRAT1):c.1130C>A (p.Pro377Gln)	BRAT1 (P202Q +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 599368	NM_001330701.2(AGTPBP1):c.2362C>T (p.Gln788Ter)	AGTPBP1 (Q788* +3 more)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures	GLikely pathogenic
Select item 587574	NM_152743.4(BRAT1):c.393_422del (p.Gln132_Ala141del)	BRAT1	Deletion (inframe_deletion +2 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more	GConflicting classifications of pathogenicity
Select item 578193	NM_152743.4(BRAT1):c.349C>T (p.Pro117Ser)	BRAT1 (P117S)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GUncertain significance
Select item 576068	NM_152743.4(BRAT1):c.1297C>G (p.Leu433Val)	BRAT1 (L433V +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GUncertain significance
Select item 567707	NM_152743.4(BRAT1):c.346G>A (p.Val116Ile)	BRAT1 (V116I)	Single nucleotide variant (missense variant +2 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GUncertain significance
Select item 546475	NM_152743.4(BRAT1):c.1340C>T (p.Thr447Met)	BRAT1 (T447M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 540171	NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly)	BRAT1 (R777G +2 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +3 more	GUncertain significance
Select item 540153	NM_152743.4(BRAT1):c.883A>G (p.Met295Val)	BRAT1 (M295V +1 more)	Single nucleotide variant (missense variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +2 more	GUncertain significance
Select item 472985	NM_152743.4(BRAT1):c.993G>A (p.Thr331=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures +3 more	GBenign/Likely benign
Select item 472968	NM_152743.4(BRAT1):c.431G>A (p.Gly144Asp)	BRAT1 (G144D)	Single nucleotide variant (missense variant +2 more)	not provided +2 more	GBenign/Likely benign
Select item 472957	NM_152743.4(BRAT1):c.1939G>T (p.Asp647Tyr)	BRAT1 (D647Y +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 472954	NM_152743.4(BRAT1):c.1726G>A (p.Gly576Ser)	BRAT1 (G576S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 472947	NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg)	BRAT1 (G532R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 472936	NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)	BRAT1 (Q438fs +1 more)	Deletion (frameshift variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +2 more	GPathogenic
Select item 472932	NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val)	BRAT1 (L400V +1 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GUncertain significance
Select item 449963	NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu)	BRAT1 (A642E +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +1 more	GConflicting classifications of pathogenicity
Select item 446895	NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp)	BRAT1 (R610W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 434519	NM_152743.4(BRAT1):c.675C>T (p.Phe225=)	BRAT1	Single nucleotide variant (synonymous variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +3 more	GBenign/Likely benign
Select item 427101	NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro)	BRAT1 (L140P)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 377362	NM_152743.4(BRAT1):c.2041G>A (p.Glu681Lys)	BRAT1 (E681K +2 more)	Single nucleotide variant (missense variant +1 more)	Neonatal-onset encephalopathy with rigidity and seizures +4 more	GConflicting classifications of pathogenicity
Select item 377093	NM_152743.4(BRAT1):c.962T>G (p.Leu321Arg)	BRAT1 (L321R +1 more)	Single nucleotide variant (missense variant +1 more)	BRAT1-related disorder +3 more	GBenign/Likely benign
Select item 372962	NM_152743.4(BRAT1):c.2125_2128del (p.Phe709fs)	BRAT1 (F769fs +2 more)	Deletion (frameshift variant +1 more)	BRAT1-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 279703	NM_152743.4(BRAT1):c.294dup (p.Leu99fs)	BRAT1 (L99fs)	Duplication (frameshift variant +2 more)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 265048	NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)	BRAT1 (R609W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 235265	NM_152743.4(BRAT1):c.866G>C (p.Cys289Ser)	BRAT1 (C289S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 225028	NM_152743.4(BRAT1):c.803+1G>C	BRAT1	Single nucleotide variant (splice donor variant)	Inborn genetic diseases	GPathogenic
Select item 31199	NM_152743.4(BRAT1):c.638dup (p.Val214fs)	BRAT1 (V214fs +1 more)	Duplication (frameshift variant +1 more)	BRAT1-related disorder +4 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 52