ClinVar for MedGen (Select 934585) - ClinVar

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Items: 79

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3242598	NM_001375380.1(EBF3):c.347dup (p.Tyr116Ter)	EBF3 (Y116*)	Duplication (nonsense)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 3065799	NM_001375380.1(EBF3):c.1873C>T (p.Leu625=)	EBF3 (A515V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 3065192	NM_001375380.1(EBF3):c.455G>C (p.Arg152Pro)	EBF3 (R152P)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 3064805	NM_001375380.1(EBF3):c.370C>A (p.Gln124Lys)	EBF3 (Q124K)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 3024299	NM_001375380.1(EBF3):c.663_685del (p.Asp222fs)	EBF3 (D222fs)	Deletion (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 2688997	NM_001375380.1(EBF3):c.967G>A (p.Val323Ile)	EBF3 (V314I +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2674611	NM_001375380.1(EBF3):c.1454_1455del (p.Thr485fs)	EBF3 (T476fs +1 more)	Microsatellite (frameshift variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 2637862	NC_000010.10:g.(131676114_131755521)_(131762539_?)del	EBF3	Deletion	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 2599739	NM_001375380.1(EBF3):c.950C>T (p.Pro317Leu)	EBF3 (P317L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2585176	NM_001375380.1(EBF3):c.1185_1186del (p.His395fs)	EBF3 (H395fs +1 more)	Microsatellite (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 2573011	NM_001375380.1(EBF3):c.1346C>G (p.Ser449Ter)	EBF3 (S440* +1 more)	Single nucleotide variant (nonsense)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 2442003	NM_001375380.1(EBF3):c.1435C>T (p.Gln479Ter)	EBF3 (Q470* +1 more)	Single nucleotide variant (nonsense +1 more)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 2441166	NM_001375380.1(EBF3):c.737G>A (p.Arg246His)	EBF3 (R246H)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441165	NM_001375380.1(EBF3):c.301A>G (p.Asn101Asp)	EBF3 (N101D)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441164	NM_001375380.1(EBF3):c.1875A>G (p.Leu625=)	EBF3 (M516V +3 more)	Single nucleotide variant (missense variant +1 more)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441162	NM_001375380.1(EBF3):c.356-4G>C	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441161	NM_001375380.1(EBF3):c.828G>A (p.Thr276=)	EBF3	Single nucleotide variant (synonymous variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441160	NM_001375380.1(EBF3):c.612C>A (p.Asn204Lys)	EBF3 (N204K)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 2441159	NM_001375380.1(EBF3):c.66C>G (p.Ser22Arg)	EBF3 (S22R)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1810200	NM_001375380.1(EBF3):c.486-12A>G	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1710284	NM_001375380.1(EBF3):c.947C>T (p.Pro316Leu)	EBF3 (P307L +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1709755	NM_001375380.1(EBF3):c.947dup (p.Pro317fs)	EBF3 (P308fs +1 more)	Duplication (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1709699	NM_001375380.1(EBF3):c.554G>C (p.Arg185Thr)	EBF3 (R185T)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1706600	NM_001375380.1(EBF3):c.701T>C (p.Val234Ala)	EBF3 (V234A)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1701824	NM_001375380.1(EBF3):c.454C>T (p.Arg152Cys)	EBF3 (R152C)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1701823	NM_001375380.1(EBF3):c.631T>C (p.Phe211Leu)	EBF3 (F211L)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1701822	NM_001375380.1(EBF3):c.487C>G (p.Arg163Gly)	EBF3 (R163G)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1699372	NM_001375380.1(EBF3):c.705CAA[1] (p.Asn237del)	EBF3 (N237del)	Microsatellite (inframe_deletion)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1699177	NM_001375380.1(EBF3):c.554+5G>A	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1685311	NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)	EBF3 (R63Q)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1685310	NM_001375380.1(EBF3):c.574_576del (p.Leu192del)	EBF3 (L192del)	Deletion (inframe_deletion)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1683518	NM_001375380.1(EBF3):c.1342G>A (p.Val448Met)	EBF3 (V439M +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1343248	NM_001375380.1(EBF3):c.505A>G (p.Ser169Gly)	EBF3 (S169G)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1321302	NM_001375380.1(EBF3):c.373G>A (p.Asp125Asn)	EBF3 (D125N)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome +1 more	GUncertain significance
Select item 1320106	NM_001375380.1(EBF3):c.548_551del (p.Ile183fs)	EBF3 (I183fs)	Deletion (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1308632	NM_001375380.1(EBF3):c.239dup (p.Pro81fs)	EBF3 (P81fs)	Duplication (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1299694	NM_001375380.1(EBF3):c.486-10T>G	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1297046	NM_001375380.1(EBF3):c.326A>C (p.His109Pro)	EBF3 (H109P)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1285489	NM_001375380.1(EBF3):c.491G>C (p.Cys164Ser)	EBF3 (C164S)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1285453	NM_001375380.1(EBF3):c.187C>T (p.Arg63Trp)	EBF3 (R63W)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1236204	NM_001375380.1(EBF3):c.589A>G (p.Asn197Asp)	EBF3 (N197D)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 1184357	NM_001375380.1(EBF3):c.1351A>G (p.Thr451Ala)	EBF3 (T442A +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1172640	NM_001375380.1(EBF3):c.1408C>T (p.Arg470Ter)	EBF3 (R461* +1 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability +2 more	GConflicting classifications of pathogenicity
Select item 1048549	NM_001375380.1(EBF3):c.622dup (p.Met208fs)	EBF3 (M208fs)	Duplication (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1032517	NM_001375380.1(EBF3):c.82C>A (p.Arg28Ser)	EBF3 (R28S)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1032516	NM_001375380.1(EBF3):c.291+2del	EBF3	Deletion (splice donor variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 1032515	NM_001375380.1(EBF3):c.220C>T (p.Leu74Phe)	EBF3 (L74F)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1029993	NM_001375380.1(EBF3):c.1372+3A>G	EBF3	Single nucleotide variant (intron variant)	Hypotonia, ataxia, and delayed development syndrome	GUncertain significance
Select item 1029992	NM_001375380.1(EBF3):c.1151C>T (p.Ala384Val)	EBF3 (A384V +1 more)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 993019	NM_001375380.1(EBF3):c.412-2A>T	EBF3	Single nucleotide variant (splice acceptor variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 976694	NM_001375380.1(EBF3):c.656T>C (p.Val219Ala)	EBF3 (V219A)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 975542	NM_001375380.1(EBF3):c.481T>A (p.Cys161Ser)	EBF3 (C161S)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 828142	NM_001375380.1(EBF3):c.428G>A (p.Gly143Asp)	EBF3 (G143D)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 828034	NM_001375380.1(EBF3):c.636+1G>A	EBF3	Single nucleotide variant (splice donor variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 817501	NM_001375380.1(EBF3):c.833dup (p.Ala279fs)	EBF3 (A270fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 802637	NM_001375380.1(EBF3):c.1128+1G>C	EBF3	Single nucleotide variant (splice donor variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 692039	NM_001375380.1(EBF3):c.163G>T (p.Glu55Ter)	EBF3 (E55*)	Single nucleotide variant (nonsense)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 684472	NM_001375380.1(EBF3):c.833del (p.Gly278fs)	EBF3 (G269fs +1 more)	Deletion (frameshift variant)	Hypotonia, ataxia, and delayed development syndrome	Gnot provided
Select item 620273	NM_001375380.1(EBF3):c.1210C>T (p.Arg404Ter)	EBF3 (R395* +1 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 560684	NM_001375380.1(EBF3):c.461_462delinsCT (p.Leu154Pro)	EBF3 (L154P)	Indel (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GLikely pathogenic
Select item 545444	NM_001375380.1(EBF3):c.593G>A (p.Cys198Tyr)	EBF3 (C198Y)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 522147	NM_001375380.1(EBF3):c.856G>A (p.Asp286Asn)	EBF3 (D277N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 488452	NM_001375380.1(EBF3):c.554G>A (p.Arg185Lys)	EBF3 (R185K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430930	NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)	EBF3 (R209Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 430927	NM_001375380.1(EBF3):c.486-1G>A	EBF3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 423864	NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter)	EBF3 (R303* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 375503	NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)	EBF3 (R206*)	Single nucleotide variant (nonsense)	Hypotonia, ataxia, and delayed development syndrome +1 more	GPathogenic
Select item 375502	NM_001375380.1(EBF3):c.280_283del (p.Glu94fs)	EBF3 (E94fs)	Deletion (frameshift variant)	Generalized hypotonia +7 more	GPathogenic
Select item 375501	NM_001375380.1(EBF3):c.579G>T (p.Lys193Asn)	EBF3 (K193N)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 375500	NM_001375380.1(EBF3):c.488G>C (p.Arg163Pro)	EBF3 (R163P)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GPathogenic
Select item 375497	NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)	EBF3 (Y141C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 375495	NM_001375380.1(EBF3):c.196A>G (p.Asn66Asp)	EBF3 (N66D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 375494	NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	EBF3 (R209W)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome +2 more	GPathogenic/Likely pathogenic
Select item 375375	NM_001375380.1(EBF3):c.512G>A (p.Gly171Asp)	EBF3 (G171D)	Single nucleotide variant (missense variant)	Neurogenic bladder +4 more	GPathogenic
Select item 374797	NM_001375380.1(EBF3):c.487C>T (p.Arg163Trp)	EBF3 (R163W)	Single nucleotide variant (missense variant)	Hypotonia, ataxia, and delayed development syndrome	GConflicting classifications of pathogenicity
Select item 268156	NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)	EBF3 (R163Q)	Single nucleotide variant (missense variant)	Global developmental delay +8 more	GPathogenic
Select item 268155	NM_001375380.1(EBF3):c.488G>T (p.Arg163Leu)	EBF3 (R163L)	Single nucleotide variant (missense variant)	Global developmental delay +5 more	GPathogenic
Select item 224085	NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)	EBF3 (P177L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 79