"GeneDx"[submitter] AND "EBF3"[gene] - ClinVar

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Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 58825	GRCh38/hg38 10q26.3(chr10:129673966-133613938)x1	ADAM8, ADGRA1 +158 more	Copy number loss	See cases	GPathogenic
Select item 3363926	NM_001375380.1(EBF3):c.1709_1710insCGAGGCCCCA (p.Gln570fs)	EBF3 (Q498fs +3 more)	Insertion (frameshift variant)	not provided	GUncertain significance
Select item 3367564	NM_001375380.1(EBF3):c.1684G>A (p.Ala562Thr)	EBF3 (A490T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375648	NM_001375380.1(EBF3):c.1670T>C (p.Val557Ala)	EBF3 (M512T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421178	NM_001375380.1(EBF3):c.1429_1441del (p.Thr477fs)	EBF3 (T468fs +1 more)	Deletion (frameshift variant +1 more)	Hypotonia, ataxia, and delayed development syndrome +2 more	GPathogenic
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 1306590	NM_001375380.1(EBF3):c.1381A>G (p.Ser461Gly)	EBF3 (S452G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620233	NM_001375380.1(EBF3):c.1357C>T (p.Gln453Ter)	EBF3 (Q444* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 3378195	NM_001375380.1(EBF3):c.1082A>C (p.Gln361Pro)	EBF3 (Q352P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037347	NM_001375380.1(EBF3):c.1067G>A (p.Gly356Asp)	EBF3 (G356D +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2579378	NM_001375380.1(EBF3):c.1013G>T (p.Gly338Val)	EBF3 (G329V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504454	NM_001375380.1(EBF3):c.982C>T (p.Leu328Phe)	EBF3 (L319F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2499720	NM_001375380.1(EBF3):c.925C>T (p.His309Tyr)	EBF3 (H300Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1723580	NM_001375380.1(EBF3):c.878A>T (p.Gln293Leu)	EBF3 (Q284L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310072	NM_001375380.1(EBF3):c.871G>A (p.Gly291Arg)	EBF3 (G282R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2571952	NM_001375380.1(EBF3):c.785C>G (p.Thr262Ser)	EBF3 (T253S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1313970	NM_001375380.1(EBF3):c.782-4_782-3delinsAG	EBF3	Indel (intron variant)	not provided	GUncertain significance
Select item 1806753	NM_001375380.1(EBF3):c.730G>A (p.Ala244Thr)	EBF3 (A244T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452012	NM_001375380.1(EBF3):c.716A>G (p.Lys239Arg)	EBF3 (K239R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1691200	NM_001375380.1(EBF3):c.673G>A (p.Val225Met)	EBF3 (V225M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1675273	NM_001375380.1(EBF3):c.661G>A (p.Val221Met)	EBF3 (V221M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1678844	NM_001375380.1(EBF3):c.635A>T (p.Gln212Leu)	EBF3 (Q212L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 452210	NM_001375380.1(EBF3):c.633C>A (p.Phe211Leu)	EBF3 (F211L)	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 375494	NM_001375380.1(EBF3):c.625C>T (p.Arg209Trp)	EBF3 (R209W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3372452	NM_001375380.1(EBF3):c.623T>A (p.Met208Lys)	EBF3 (M208K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 453044	NM_001375380.1(EBF3):c.610A>G (p.Asn204Asp)	EBF3 (N204D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1687681	NM_001375380.1(EBF3):c.587A>G (p.Gln196Arg)	EBF3 (Q196R)	Single nucleotide variant (missense variant)	not provided	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 816997	NM_001375380.1(EBF3):c.560_563del (p.Phe186_Phe187insTer)	EBF3	Microsatellite (nonsense)	not provided	GPathogenic
Select item 59412	GRCh38/hg38 10q26.3(chr10:129904929-130552922)x1	C10orf143, EBF3 +16 more	Copy number loss	See cases	GUncertain significance
Select item 224085	NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)	EBF3 (P177L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2577648	NM_001375380.1(EBF3):c.524_528del (p.Glu175fs)	EBF3 (E175fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
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 430927	NM_001375380.1(EBF3):c.486-1G>A	EBF3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 451823	NM_001375380.1(EBF3):c.486-5del	EBF3	Deletion (intron variant)	not provided	GUncertain significance
Select item 3371727	NM_001375380.1(EBF3):c.486-7T>G	EBF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 430929	NM_001375380.1(EBF3):c.471C>A (p.His157Gln)	EBF3 (H157Q)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 451021	NM_001375380.1(EBF3):c.469C>T (p.His157Tyr)	EBF3 (H157Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2430946	NM_001375380.1(EBF3):c.464T>C (p.Leu155Pro)	EBF3 (L155P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1306764	NM_001375380.1(EBF3):c.454C>G (p.Arg152Gly)	EBF3 (R152G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 524128	NM_001375380.1(EBF3):c.421_422insC (p.Tyr141fs)	EBF3 (Y141fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1309060	NM_001375380.1(EBF3):c.402G>A (p.Met134Ile)	EBF3 (M134I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 391200	NM_001375380.1(EBF3):c.370C>T (p.Gln124Ter)	EBF3 (Q124*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 424047	NM_001375380.1(EBF3):c.341T>G (p.Leu114Ter)	EBF3 (L114*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1801865	NM_001375380.1(EBF3):c.320G>T (p.Gly107Val)	EBF3 (G107V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308544	NM_001375380.1(EBF3):c.298A>G (p.Asn100Asp)	EBF3 (N100D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1676934	NM_001375380.1(EBF3):c.292-2A>G	EBF3	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 1309651	NM_001375380.1(EBF3):c.292-6T>G	EBF3	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 426170	NM_001375380.1(EBF3):c.288_289del (p.Lys97fs)	EBF3 (K97fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 1304365	NM_001375380.1(EBF3):c.249G>T (p.Glu83Asp)	EBF3 (E83D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 430928	NM_001375380.1(EBF3):c.244del (p.Val82fs)	EBF3 (V82fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1222295	NM_001375380.1(EBF3):c.229A>C (p.Arg77=)	EBF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 430931	NM_001375380.1(EBF3):c.191A>C (p.Lys64Thr)	EBF3 (K64T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 806582	NM_001375380.1(EBF3):c.173C>G (p.Pro58Arg)	EBF3 (P58R)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 504040	NM_001375380.1(EBF3):c.171del (p.Gln57fs)	EBF3 (Q57fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1311689	NM_001375380.1(EBF3):c.155C>T (p.Ala52Val)	EBF3 (A52V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 503921	NM_001375380.1(EBF3):c.151_153delinsTGA (p.Arg51Ter)	EBF3 (R51*)	Indel (nonsense)	not provided	GPathogenic
Select item 1179936	NM_001375380.1(EBF3):c.89G>A (p.Trp30Ter)	EBF3 (W30*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 620368	NM_001375380.1(EBF3):c.86C>A (p.Ser29Ter)	EBF3 (S29*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2578159	NM_001375380.1(EBF3):c.46_48del (p.Lys16del)	EBF3 (K16del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1307472	NM_001375380.1(EBF3):c.32G>A (p.Gly11Glu)	EBF3 (G11E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 253479	GRCh37/hg19 10q24.32-26.3(chr10:103288313-135512075)x3	ABLIM1, ABRAXAS2 +201 more	Copy number gain	See cases	GPathogenic
Select item 3360603	NM_001375380.1(EBF3):c.1888T>C (p.Ter630Gln)	EBF3 (V520A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 72